StemCell Therapy

DNA may not be lifes instruction book, but just a jumbled list of ingredients.

University of Maryland researcher develops potentially revolutionary framework for heredity and evolution in which inheritable information is stored outside the genome.

The common view of heredity is that all information passed down from one generation to the next is stored in an organisms DNA. But Antony Jose, associate professor of cell biology and molecular genetics at the University of Maryland, disagrees.

In two new papers, Jose argues that DNA is just the ingredient list, not the set of instructions used to build and maintain a living organism. The instructions, he says, are much more complicated, and theyre stored in the molecules that regulate a cells DNA and other functioning systems.

Jose outlined a new theoretical framework for heredity, which was developed through 20 years of research on genetics and epigenetics, in peer-reviewed papers in the Journal of the Royal Society Interface and the journal BioEssays. Both papers were published on April 22, 2020.

Joses argument suggests that scientists may be overlooking important avenues for studying and treating hereditary diseases, and current beliefs about evolution may be overly focused on the role of the genome, which contains all of an organisms DNA.

DNA cannot be seen as the blueprint for life, Jose said. It is at best an overlapping and potentially scrambled list of ingredients that is used differently by different cells at different times.

For example, the gene for eye color exists in every cell of the body, but the process that produces the protein for eye color only occurs during a specific stage of development and only in the cells that constitute the colored portion of the eyes. That information is not stored in the DNA.

In addition, scientists are unable to determine the complex shape of an organ such as an eye, or that a creature will have eyes at all, by reading the creatures DNA. These fundamental aspects of anatomy are dictated by something outside of the DNA.

Jose argues that these aspects of development, which enable a fertilized egg to grow from a single cell into a complex organism, must be seen as an integral part of heredity. Joses new framework recasts heredity as a complex, networked information system in which all the regulatory molecules that help the cell to function can constitute a store of hereditary information.

Michael Levin, a professor of biology and director of the Tufts Center for Regenerative and Developmental Biology and the Allen Discovery Center at Tufts University, believes Joses approach could help answer many questions not addressed by the current genome-centric view of biology. Levin was not involved with either of the published papers.

Understanding the transmission, storage and encoding of biological information is a critical goal, not only for basic science but also for transformative advances in regenerative medicine, Levin said. In these two papers, Antony Jose masterfully applies a computer science approach to provide an overview and a quantitative analysis of possible molecular dynamics that could serve as a medium for heritable information.

Jose proposes that instructions not coded in the DNA are contained in the arrangement of the molecules within cells and their interactions with one another. This arrangement of molecules is preserved and passed down from one generation to the next.

In his papers, Joses framework recasts inheritance as the combined effects of three components: entities, sensors and properties.

Entities include the genome and all the other molecules within a cell that are needed to build an organism. Entities can change over time, but they are recreated with their original structure, arrangement and interactions at the start of each generation.

That aspect of heredity, that the arrangement of molecules is similar across generations, is deeply underappreciated, and it leads to all sorts of misunderstandings of how heredity works, Jose said.

Sensors are specific entities that interact with and respond to other entities or to their environment. Sensors respond to certain properties, such as the arrangement of a molecule, its concentration in the cell or its proximity to another molecule.

Together, entities, sensors and properties enable a living organism to sense or know things about itself and its environment. Some of this knowledge is used along with the genome in every generation to build an organism.

This framework is built on years of experimental research in many labs, including ours, on epigenetics and multi-generational gene silencing combined with our growing interest in theoretical biology, Jose said. Given how two people who contract the same disease do not necessarily show the same symptoms, we really need to understand all the places where two people can be differentnot just their genomes.

The folly of maintaining a genome-centric view of heredity, according to Jose, is that scientists may be missing opportunities to combat heritable diseases and to understand the secrets of evolution.

In medicine, for instance, research into why hereditary diseases affect individuals differently focuses on genetic differences and on chemical or physical differences in entities. But this new framework suggests researchers should be looking for non-genetic differences in the cells of individuals with hereditary diseases, such as the arrangement of molecules and their interactions. Scientists dont currently have methods to measure some of these things, so this work points to potentially important new avenues for research.

In evolution, Joses framework suggests that organisms could evolve through changes in the arrangement of molecules without changes in their DNA sequence. And in conservation science, this work suggests that attempts to preserve endangered species through DNA banks alone are missing critical information stored in non-DNA molecules.

Jose acknowledged that there will be much debate about these ideas, and experiments are needed to test his hypotheses. But, he said, preliminary feedback from scientists like Levin and other colleagues has been positive.

Antony Joses generalization of memory and encoding via the entity-sensor-property framework sheds novel insights into evolution and biological complexity and suggests important revisions to existing paradigms in genetics, epigenetics and development, Levin said.

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References:

A framework for parsing heritable information by Antony M. Jose, 22 April 2020, Journal of the Royal Society Interface.DOI: 10.1098/rsif.2020.0154

Heritable Epigenetic Changes Alter Transgenerational Waveforms Maintained by Cycling Stores of Information by Antony M. Jose, 22 April 2020, BioEssays.DOI: 10.1002/bies.201900254

Research in Antony Joses laboratory is supported by the National Institutes of Health (Award Nos. R01GM111457 and R01GM124356). The content of this article does not necessarily reflect the view of this organization.

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DNA May Not Be the Blueprint for Life Just a Scrambled List of Ingredients - SciTechDaily

People who test positive again for the coronavirus, despite having already recovered from COVID-19, arent being reinfected, a new study finds.

Reports of patients dischargedfrom hospitals in South Korea testing positive after their apparent recovery hadraised concerns that people could get infected by the virus in the short term morethan once or that the infection could come back. But diagnostic tests for the coronavirus that causes COVID-19 rely on detecting theviruss genetic material (SN: 4/17/20).A positive result does not indicate whether a person is shedding virusescapable of infecting cells which would signal an active infection.

Now, a May 19 report from theKorean Centers for Disease Control and Prevention shows that samples fromreinfected patients dont have infectious viruses. The finding hints that the diagnostic tests are picking upon the genetic material from noninfectious or dead viruses. That lack of infectious virus particles meansthese people arent currently infected and cant transmit the coronavirus toothers, the researchers say.

Its good news, says AngelaRasmussen, a virologist at Columbia University. It appears people are notbeing reinfected, and this virus is not reactivating.

In thestudy, researchers tried to isolate infectious coronaviruses from samples takenfrom 108 people who retested positive. All of those samples tested negative. When the scientists examined 23 of those patients for antibodiesagainst the coronavirus, almost all had neutralizing antibodies that can stop the virus from getting intocells (SN: 4/28/20). That immuneresponse may protect a person from getting reinfected, at least in the short term.

The team also tracked down790 contacts of 285 people who retested positive. Of those contacts, 27 testedpositive for the coronavirus. Twenty-four of those were cases that officialshad previously confirmed. Officials also identified three new cases, all ofwhom either had contact with the Shincheonji religious group which was hit particularly hard inthe early days of the pandemic or aconfirmed case in their family. No new cases appeared to stem from repeatpositive patients, a sign those patients arent contagious.

Now, we can largely stopworrying about reinfection and address the next big questions, Rasmussen says.How protective are immune responses in recovered patients, and how long doesimmunity last?

Scientists and journalists share a core belief in questioning, observing and verifying to reach the truth. Science News reports on crucial research and discovery across science disciplines. We need your financial support to make it happen every contribution makes a difference.

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New data suggest people arent getting reinfected with the coronavirus - Science News

If youve ever been a newlywed, you know the tingly euphoria of saying I do and starting a life with your spouse. This is romantic love, Western style. We often chalk it up to chemistry, an ill-defined connection of hearts and minds. Groundbreaking research at UC Santa Barbara finds we were closer than we knew.

For the first time, researchers have explored the neural and genetic connections to romantic love in newlyweds. By using functional magnetic resonance imaging (fMRI) and genetic analysis of 19 first-time newlyweds, Bianca Acevedo and her collaborators showed that romantic love maintenance is part of a broad mammalian strategy for reproduction and long-term attachment that is influenced by basic reward circuitry, complex cognitive processes and genetic factors.

In short, were hard-wired to sustain romantic love to maintain a successful marriage and the family unit, thanks to neurotransmitters like dopamine and a suite of genetic mutations.

This is the first study to examine the neural and genetic correlates of romantic love maintenance, said Acevedo, a research scientist at UC Santa Barbaras Department of Psychological & Brain Sciences and the lead author of After the Honeymoon: Neural and Genetic Correlates of Romantic Love in Newlywed Marriages in the journal Frontiers in Psychology.

The study showed that the maintenance of love is not only associated with activation of subcortical regions but also higher order centers of the brain, she said. Also, for the first time we provide evidence that the propensity to sustain romantic love may be affected by genetic variability. Specifically, the genes we examined are associated with pair-bonding behaviors including fidelity and sexual behaviors; and social behaviors such as trust, eye-gazing and attachment.

To test their hypothesis that romantic love is a developed form of the mammalian drive to find and keep mates, the researchers performed fMRI scans of the brains of the members of the study group 11 women and eight men. Participants were shown alternating images of their partners and a neutral acquaintance they knew well.

At the start of each session, the subjects were instructed to recall non-sexual events with the person whose face was displayed. While still in the scanner, participants rated their moods to verify that the evoked emotions corresponded to the target image.

The participants were tested around the time of marriage and a year later.

In addition, they provided saliva samples for testing of vasopressin, oxytocin and dopamine genes implicated in pair bonding in non-human mammals, such as voles.

Our findings showed robust evidence of the dopamine reward systems involvement in romantic love, Acevedo said. This system is interesting because it is implicated in motivation, energy, working for rewards, and is associated with corresponding emotions such as excitement, euphoria and energy, as well as frustration if the drive is thwarted.

Acevedos current research builds on her work on empathy and altruism and its correlates in the brain.

Empathy has its roots in social bonding, she explained. In our previous work we showed that although humans express sentiments such as empathy and altruism towards strangers and non-close others, brain responses to partners are stronger. Thus, there is specificity. Romantic love is somewhat different in that it may or may not include empathy or altruism, but in healthy partnerships it does.

For some romantics, it might seem a tad clinical to chalk up our feelings of love and commitment to biochemistry. Acevedo, however, said gene mutations and brain activity are only components of romance and belonging.

Humans are creative and clever, she said. Romantic love inspires people to know how to put a smile on their partners face. By making our partners happy we not only keep our relationships stable, but we also derive joy from such events.

In the brain, Acevedo continued, this is shown as increased reward activation when people are shown images of a partner smiling and they are told that something wonderful has happened to the partner. People know this intuitively. They know that romance goes a long way in finding and keeping a preferred mate. Thats why there is multibillion-dollar industry built on it from dating sites, to lingerie to Hallmark cards, chocolate and diamond rings.

And besides, our chemical impulses dont buy flowers or cook dinner.

Love is basic but complex, Acevedo said. We are wired to love, but it takes work to find and keep love alive."

Nancy L. Collins, a professor in UC Santa Barbaras Psychological and Brain Sciences, was a co-author of After the Honeymoon. She is also director of the UC Santa Barbara Close Relationship Lab. Other authors are Michael J. Poulin of the University of Buffalo and Lucy L. Brown of the Albert Einstein College of Medicine in New York.

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Are we wired for romance? - University of California

A girl in New Delhi gets a nasal swab to test for the new coronavirus. A rare Kawasaki diseaselike illness linked to the virus is sickening young people.

By Jennifer Couzin-FrankelMay. 21, 2020 , 4:10 PM

Sciences COVID-19 reporting is supported by the Pulitzer Center.

Three children at one London hospital in mid-April, followed the next day by three at anotherfor Elizabeth Whittaker, a pediatric infectious disease doctor at Imperial College London, those first cases raised an alarm. The youngsters had fevers, rashes, stomach pain, and, in some cases, heart problems, along with blood markers that characterize COVID-19 in adults, including one associated with clotting. But in most, nasal swabs failed to reveal any virus.

I dont understandthey look like they have coronavirus, Whittaker recalls thinking. Doctors nonetheless suspected a link. Within days, a survey turned up 19 additional cases across England, and an alert on 27 April asked doctors to be on the lookout for such symptoms in children. Soon after, dozens more cases surfaced in New York along with smaller clusters elsewhere, bolstering a connection to the pandemic. Reports of children on life support and some deaths put parents on edgeand were especially disheartening after earlier signs that COVID-19 largely spares children from serious illness.

It is another surprise from a virus that hasproffered many, and projects worldwide are gearing up to study it. They are combing the blood and sequencing the genomes of patientsand the virus, if it can be isolated from themto search for clues to what makes some children susceptible and how to head off the worst symptoms. Theres hope that whats learned from young patients might help the many adults in whom COVID-19 also triggers a grievous overreaction of the immune system.

In some respects, Its absolutely not shocking to see this, says Rae Yeung, a rheumatologist and immunologist at the Hospital for Sick Children, whose center treated 20 children over the past 3 weeks with similar symptoms.Many pathogens occasionally trigger a similar hyperactive immune response in children, known as Kawasaki disease. Its symptoms vary but include rash, fever, and inflammation in medium-size blood vessels. Children can suffer heart problems. In rare cases, blood pressure plummets and shock sets in.

Doctors disagree on whether the variant linked to COVID-19 is Kawasaki disease or something new, with some experts calling it multisystem inflammatory syndrome in children. But as with Kawasaki disease, most recover with treatment, including steroids and immunoglobulins, which calm the immune system.

In linking the inflammatory syndrome to COVID-19,Were going on more than just a hunch, says Jesse Papenburg, a pediatric infectious disease specialist at Montreal Childrens Hospital, in a city thats seen about 25 children with the condition. Kawasaki disease is rare, ordinarily affecting just one to three in every 10,000 children in Western countries, though its more common in children with Asian ancestry. The spikes recorded so far, in COVID-19 hot spots like northern Italy and New York City, track the novel coronavirus march around the world. And although a minority of these children test positive for SARS-CoV-2, a studypublished inThe Lancetby a team in Bergamo, Italy, reported that eight of 10 children with the Kawasaki-like illness had antibodies to the virus, indicating they had been infected. Positive antibody tests have been reported in sick children elsewhere, too.

It was obvious that there was a link, says Lorenzo DAntiga, a pediatrician at the Papa Giovanni XXIII Hospital who led the study. The new coronavirus can elicit a powerful immune response, which he thinks may explain why shock and a massive immune reaction called a cytokine storm are more common in the COVID-19linked cases than in textbook Kawasaki disease. And a time lag between infection and the Kawasaki-like illness could explain why many of the affected children show no evidence of the virus. The immune systems overreaction may unfold over weeks, though virus could also be hiding somewhere in the body.

Theres clearly some underlying genetic component that puts a small number of children at risk, says Tom Maniatis, founding director of Columbia Universitys Precision Medicine Initiative. New York state is investigating 157 cases, and Maniatis is also CEO of the New York Genome Center, which is pursuing whole-genome sequencing of affected children and their parents, as well as sequencing the virus found in children, with family consent. Finding genes that heighten risk of the illness or of developing a severe case could point to better treatments or help identify children who may take a sudden turn for the worse.

Genetics may also help explain a puzzle: why the illness hasnt been reported in Asian countries, even though Kawasaki disease is far more common in children with Asian ancestry. The virus own genetics may be important; an analysis last month indicatedthe predominant viral variant in New York was brought by travelers from Europe. Its also possible that the Kawasaki-like illness is so rare that it only shows up in COVID-19 hotbeds. The areas that have been hardest hit by coronavirus are the areas reporting this syndrome now, says Alan Schroeder, a critical care physician at Lucile Packard Childrens Hospital at Stanford University, which has seen one potentially affected child, a6-month-old baby, who healed quickly.

Yeung is pursuing ways to flag children with COVID-19 who are at risk of this complication. She co-leads an international consortium thats banking blood from affected children both before and after treatment and screening for various markers, including the cytokine molecules that indicate a revved-up immune system. They are also searching for gene variants known to predict poor outcomes in Kawasaki disease. Theres also core COVID stuff that needs to be measured, Yeung says, such as markers of heart function and levels of D-dimer, a protein fragment in the blood that indicates a tendency toward clotting and that surges in many sick adults.

Another project, called DIAMONDSand originally designed to improve diagnostics of pathogens based on patterns of immune response in children with fevers,is recruiting children across Europe with the Kawasaki-like complication, along with those who have run of the mill COVID-19 symptoms. Scientists will study blood for pathogensnot just SARS-CoV-2and the behavior of immune cells such as T cells and B cells.

We have to do a deep dive into the immunology of those patients, says Elie Haddad, a pediatric immunologist and scientist at the St. Justine University Hospital Center who,with Yeung and Susanne Benseler at Alberta Childrens Hospital, is leading Canadian research efforts on the new syndrome. These deep dives may also clarify the immune system chaos seen in many sick adults. Children are cleaner, Haddad points outtheyre less likely to have other health burdens, such as diabetes or high blood pressure, that can make it harder to tease out the virus impact on the immune system.

Its possible, too, that the illness affects adults as well but is harder to tease out from their other symptoms. A global effort studying COVID-19 in adults, called the International Severe Acute Respiratory and Emerging Infection Consortium, will look at adults clinical data and blood samples,Whittaker says, to see, is this a uniquely pediatric problem?

Eager as they are to understand this new face of the pandemic, doctors want to avoid overstating the hazards. We need to identify early and we need to intervene early in treating these children, Yeung says. But she also urges calm. The kids were seeing so far, she stresses, they respond to the treatments were giving.

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Doctors race to understand rare inflammatory condition associated with coronavirus in young people - Science Magazine

Have a question about coronavirus, also known as COVID-19?

We will ask the experts.

Send questions to tribdem@tribdem.com.

If a person had COVID-19 in the past, lets say in February, and takes the testagain in May, is the test going to show negative? In other words you could have hadcoronavirus in the past and it would test negative now?

So, the only way to find out if you had it in the past would be the antibody test, correct?

The answer:

Great questions, and it all comes back to testing and more frequent testing. Theres some very recent positive data out of South Korea which Ill discuss below.

Your questions refer to the different types of tests. One test is the molecular swab (Polymerase Chain Reaction PCR), which detects genetic RNA from SARS-CoV-2, also known as the COVID-19 virus. The other test is a blood IgG antibody, which determines if someone was previously infected, or was recently exposed to the virus 10-21 days ago.

If you had COVID-19 infection in February, the PCR swab test would probably be negative now, and the blood IgG antibody test would probably be positive (indicating prior infection). Recent data out of South Korea suggest that if the repeat PCR swab test is positive, that may be detecting dead virus, rather than indicating reinfection. And the positive IgG antibodies may provide some protection.

Because the pandemic is only a few months old, there is no data on long-term immune response.

Dr. David Csikos, chief medical officer, Chan Soon-Shiong Medical Center at Windber.

When older adults fly, canthey get tested upon arrival sothey dont need to be secluded for 14 days?

The answer:

The tests that are available on the market are antibody tests and SARS CoV-2 genome tests.

The antibody tests show if a person is having an adaptive or specific response to the virus; the genome test is indicative of an active infection, as viral RNA is present. These tests, particularly the genome test, give a snapshot of what is happening on that day.

Individualswho are exposed to SARS CoV-2 wont show symptoms for five to seven days, on average. A test upon landing would not be sufficient to say that the individual is not in the incubation period of COVID-19.

Theperson could have been exposed to the virus on the plane. This is why the 14-day quarantine is recommended.

Jill D. Henning, associate professor of biology, University of Pittsburgh at Johnstown.

My husband and I tested positive in March, then aftertwo weeks, we had no symptoms. We got retested last week and are both positive. Why would this happen?

The answer:

An excellent question that has relevant implications.

I assume the tests were molecular PCR (Polymerase Chain Reaction), which detects genetic RNA from the COVID-19 virus. If you and your husband dont have any symptoms or fever, this implies both are now asymptomatic carriers. It is not known how long you will remain a carrier without symptoms, and that may depend in part how long protective immunity will last.

I recommend you and your husband consider blood tests for IgG antibodies to SARS-CoV-2.

It is unknown if both are still contagious, and thats why its important to wear face masks in public and continue social distancing. While the evidence on reinfection is evolving, current data and experience from previous viruses without substantial seasonal mutation do not support this hypothesis.

Because the COVID-19 pandemic is only a few months old, there is no data on long-term immune response. It is also controversial when asymptomatic carriers may return back to work. I recommend both of you follow up with your primary care physician, and if necessary, consult an infectious disease specialist.

Dr. David Csikos, chief medical officer, Chan Soon-Shiong Medical Center at Windber.

I have read that scientists are working on testing community spread by testing water from the sewer.

Would it be possible to develop individual urine tests (akin to pregnancy testing)that could inform a person positive or negative for the virus on a daily basis?

The answer:

To my knowledge, there are only two kinds of tests for SARS CoV 2, a genomic RNA test and an antibody test. The RNA test is looking for viral genetic material in patients and the antibody test is looking for the presence of an immune response to the virus.

SARS CoV 2 has been detected in feces of infected patients, but it is not clear whether that virus is infectious. In addition, waste water has been shown to contain the virus, but standard municipal sanitation practices or use of a septic tank has been shown to inactivate the virus.

Urine contains waste products from the human body that can be dissolved in water. Hormones, sugar, vitamins and certain proteins can be found in urine. RNA and DNA can be found in urine as well.

Urine tests,such as those you mention in your question, require a high concentration of the substance to be in the urine.

A recent study out of China was able to detect SARS CoV 2 in urine of one patient out of 17 with confirmed disease. Other peer reviewed studies were unable to find viral RNA in urine. These studies used a technique called RT-PCR to detect the viral RNA. This technique amplifies minutely small quantities of viral RNA and brings the concentration up to detectable levels.

Who knows what the future holds? That is the beauty of science. But at present, we do not have the ability to detect the minuscule amount of viral RNA in urine without amplifying it first.

I am a cashier at Walmart. I had something similar to COVID-19 in December, however no breathing problems. Am I safe to visit my 2-week-old grandson? I shower, wash my hair and wear clean clothes and wash my hands when visiting. I also work daily, sanitize frequently and wash my hands every chance I can. I also wear a mask when working and visiting. Am I putting my grandson in danger?

The answer:

Social distancing is hard and it must be truly difficult when a new family member is born.

When we are first born and until we are about a year old, our immune systems are immature. The responses we build to microbes takes time and the littlest among us have not been around long enough to have the same responses that adults or even older children do. This makes infants more susceptible to infections.

In a recent study out of China, of more than 2,100 children with suspected or confirmed COVID-19 in between late December and early February showed that about 11% of infants had severe or critical illness. Children in other age groups had lower rates of severe or critical illness (about 7% for children ages 1 to 5, 4% for ages 6 to 10, 4% for ages 11 to 15).

Other studies are showing an inflammatory illness that may be linked to COVID-19. This response that is seen in children is severe and rare. It has to deal with an immune response that leads to a cytokine storm. Our innate response, the one we are born with, has the ability to make our blood vessels leaky in order to let white blood cells into our tissues where the infection is. It does this by releasing cytokines, proteins that allow the immune system to communicate with cells and tissue of the body. This response is usually localized, but in some children it becomes systemic causing the blood vessels all over the body to be leaky; this results in severe symptoms such as organ failure and shock.

From your question, it appears that you are doing things to reduce your risk of infection. If you feel that you had COVID-19 in December, I urge you to request an antibody test. This could help determine if you did have COVID-19.

With respect to visiting your newborn grandson, I support respecting the community directed stay-at-home orders. He is still developing his immune system and is in a risk group because of his age. You and your family can speak with the childs pediatrician to see what the case counts are in your area and then determine what level of risk is acceptable to you as a family.

Jill D. Henning, associate professor of biology, University of Pittsburgh at Johnstown.

Can you be a carrier ofCOVID-19 and not have any symptoms as in youre immune to the virus but still carry and spread the virus?

The answer:

Yes, there are asymptomatic carriers, however no one can truly determine the impact of asymptomatic cases on spread until theres more testing.

Can these people who are completely asymptomatic, who never develop any symptoms, transmit the infection? Thats still an open question, and no one knows for sure. Experts say these carriers without symptoms make it even more important for people to wear face masks in public.

Dr. David Csikos, chief medical officer, Chan Soon-Shiong Medical Center at Windber.

I was really sick with upper respiratory turned into bronchitis turned to pneumonia in late December to middle of February. Is it possible I had COVID?Would an antibody test still show antibodies if I did? I had almost all the symptoms.

The answer:

When did SARS CoV-2 emerge?

That is one of the big questions of 2020.

Science uses a method called the molecular clock to determine when new pathogens emerge.

SARS CoV-2 is an RNA virus. Ituses an enzyme to copy itself called RNA dependent RNA polymerase. This enzyme is sloppy in its copying. The rate of mistakes it makes is able to be tracked.

Using this technology, scientists at the Imperial College of London collaborated withthe World Health Organization to determine that SARS CoV-2 emerged between Nov. 6 and Dec. 13 in Wuhan, China. Couple the new respiratory virus with the ability to be anywhere in the world in 24 hours and ...

Testing can help sort out whether a person has recovered from COVID-19. The test that will determine if a person has had an immune response to the infection is the antibody test. IgG antibodies are present in a person aftershe or he has had an infection that resulted in an adaptive (specific) immune response.

If you are curious about your status, you can seek out an IgG antibody test. The more data that can be acquired about positive cases, in any stage, will help answer the question of when. It is possible, however, that we will never know when it emerged.

Jill D. Henning, associate professor of biology, University of Pittsburgh at Johnstown.

I am wondering how it could be possible to see my significant other during the coronavirus pandemic. We live separately, and I have been quarantined while he has continued to do basic things such as grocery shop and goes to work two times per week, always following recommended precautions. We are wondering if he were to do a PCR test for coronavirus RNA combined with an IgG and IgM antibody test, could this provide a sufficient picture upon which to base a decision to see one another, or not?

The answer:

Social distancing is so hard! All of us have someone we want to see.

In public health there is something called risk reduction. It refers to using strategies that minimize the risk or harm certain human behaviors come with for example, wearing a bicycle helmet when riding a bike. If you wear a helmet, you are less likely to have a traumatic brain injury if you wreck. You still ride the bike, just in a safer way.

With SARS CoV-2, becoming more lax on your social distancing is not the same as wearing a bicycle helmet when riding a bike. SARS CoV-2 is spread via airborne droplets by people who may not know they are sick yet. Even people who are practicing social distancing may not know they have been exposed because they could have come in contact with people who dont know they are infected yet.

Testing can help. The test for genomic RNA of SARS CoV-2 will let a person know ifhe or she is actively infected at that time. The antibody tests would show that you are in the first stages of an adaptive immune response (IgM) or that you are in the later stages or recovered from COVID-19 (IgG).

However, this is only a snapshot of the infection risk. It only says that at the time of the test, the individual is SARS CoV-2 free. If that individual goes out in the community the next day, he or she could be exposed to someone with the virus and become infected.

Until we have more testing,two-thirds of our population recovered, or a treatment is found, it is best to keep socially distant.

As always the risk assumption is yours; however, the recommendation is to maintain social distance.

Jill D. Henning, associate professor of biology, University of Pittsburgh at Johnstown.

Are drug users, especially intravenous, more likely to spread COVID-19 or other viruses and diseases than non-drug users?

The answer:

SARS CoV-2 is spread via respiratory droplets. Anyone can spread the infection if they have symptoms and we are seeing studies that show asymptomatic transmission in about 35% of individuals (recent studies from the New England Journal of Medicine).

Now is a good time to remind everyone that human behavior contributes to the spread of any infectious disease. When we consider COVID-19, we can reduce the spread by wearing a mask in public, washing our hands, and maintaining social distance.

Injection drug users are at a greater risk for blood-borne pathogens, such as Hepatitis and HIV, as well as having a greater risk for sepsis, a bacterial infection in the blood. As for other drug users, according to the National Institute of Allergy and Infectious Diseases, because SARS CoV-2 attacks the lungs it could be a serious threat to those who smoke tobacco or marijuana or who vape. People with opioid use disorder and methamphetamine use disorder may also be vulnerable due to those drugs effects on respiratory and pulmonary health.

In short, anything that decreases lung functioning can lead to more severe COVID-19 disease.

Jill D. Henning, associate professor of biology, University of Pittsburgh at Johnstown.

I am a nanny and was asked to enter the familys home wearing a mask. I assumed they (mom, dad and 41/2-year-old) would also be wearing masks. They did not. I wear one to protect them and vice-versa, correct?

The answer:

There are no formal guidelines on what should be done in this situation. Childcare is a necessity for many families, even if they are working from home. In this situation, I would recommend that you all (mom, dad, child and nanny) keep each other apprised of your health situation. Have a discussion about your exposures and risk factors for SARS CoV-2 (for example, do you live in a home with an essential worker) be truthful about each others movement (or lack there of) in the community. If you are nannying for another family, be sure to inform all parties involved.

After this conversation, decide together on a safety plan that makes everyone comfortable.

For example, everyone has their temperature taken daily before work starts. If symptoms become apparent, all are notified.

Maybe you have certain rooms that are for family only in the home, maybe you and the child remain in one area of the home.

Through working together as a unit, you can be sure to address all concerns and come to an agreement in which everyone feels safe.

Jill D. Henning, associate professor of biology, University of Pittsburgh at Johnstown.

The news keeps saying people under 18 rarely transmit the disease. However, what evidence is this based on? I read that children under 18 dont get the disease, or very mildly and dont transmit. But how many children have had the disease? How many children under 18 have actually been tested? If we do not have facts on children under 18 how can we say that they rarely get it and they do not transmit it?

The answer:

We dont have all the facts yet on how COVID-19 affects different populations, or know how many people have had the virus. And this is especially true with children.

It seems that children may not have symptoms that are severe, but we do know they get the virus. There have been a few cases (not locally) where kids are intubated, and respirators were used for children. Children can still pass the virus to their older family members who can have much more severe symptoms.

Everyone, including children, should follow the recommended precautions to prevent the spread of the virus.

Originally posted here:
Experts answer your COVID-19 questions: 'If a person had COVID-19 in the past, let's say in February, and takes the test again in May, is the test...

DUBLIN--(BUSINESS WIRE)--The "Global Genome Editing Market By Technique (CRISPR, Zinc Finger Nucleases, TALENs, Restriction enzymes, Others), By Applications (Synthetic Biology, Engineering Cell Line and Organisms, Others), By Source, By End-User, By Region, Forecast & Opportunities, 2025" report has been added to ResearchAndMarkets.com's offering.

The Global Genome Editing Market is expected to grow at a brisk rate during the forecast period owing to growing number of research activities for treatment of various chronic diseases using this technology. Further, increased government funding for genomics technology around the globe, growing preference for personalized medicine and increase in R&D expenditure are fueling the market growth of genome editing.

Genome editing is a way of making specific changes to the DNA of a cell or organism. It could be used to edit the genome of any organism. It uses a type of enzyme called an engineered nuclease' which cuts the genome in a specific place. After cutting the DNA in a specific place, the cell naturally repairs the cut. It finds application in large number of areas, such as mutation, therapeutics, and agriculture biotechnology. Moreover, rise in the number of chronic and infectious diseases is likely to fuel the market for genome editing in the coming years.

The Global Genome Editing market is segmented based on technique, applications, source, end-user and region. Based on applications, the market is segmented into synthetic biology, engineering cell line & organisms, therapeutic genome editing and others. Among them, the cell line engineering is expected to witness the highest growth rate in the coming years due to increase in the number of people suffering with genetic disorders and rising government funding for stem cell research.

Based on end-user, the Global Genome Editing Market is segmented into pharmaceutical & biotechnology companies, clinical research organization and research institutes. Pharmaceutical & biotechnology companies contribute to the largest share of revenue generation for the Global Genome Editing Market. Growing establishments of biotech and pharma companies in emerging economies and growing usage of gene editing technique in research activities undertaken by them to manufacture and develop drugs for rare diseases anticipated to fuel the market across the globe.

Companies Mentioned

Objective of the Study:

Key Topics Covered:

1. Product Overview

2. Research Methodology

3. Executive Summary

4. Global Genome Editing Market Outlook

4.1. Market Size & Forecast

4.2. Market Share & Forecast

4.3. Market Attractiveness Index

5. Asia-Pacific Genome Editing Market Outlook

5.1. Market Size & Forecast

5.2. Market Share & Forecast

5.3. Market Attractiveness Index

5.4. Asia-Pacific: Country Analysis

6. Europe Genome Editing Market Outlook

6.1. Market Size & Forecast

6.2. Market Share & Forecast

6.3. Market Attractiveness Index

6.4. Europe: Country Analysis

7. North America Genome Editing Market Outlook

7.1. Market Size & Forecast

7.2. Market Share & Forecast

7.3. Market Attractiveness Index

7.4. North America: Country Analysis

8. South America Genome Editing Market Outlook

8.1. Market Size & Forecast

8.2. Market Share & Forecast

8.3. Market Attractiveness Index

8.4. South America: Country Analysis

9. Middle East and Africa Genome Editing Market Outlook

9.1. Market Size & Forecast

9.2. Market Share & Forecast

9.3. Market Attractiveness Index

9.4. MEA: Country Analysis

10. Market Dynamics

10.1. Drivers

10.2. Challenges

11. Market Trends & Developments

12. Competitive Landscape

12.1. Competition Outlook

12.2. Players Profiled (Leading Companies)

13. Strategic Recommendations

14. About Us & Disclaimer

For more information about this report visit https://www.researchandmarkets.com/r/tgb83z

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Outlook on the Worldwide Genome Editing Industry to 2025 - Featuring Pfizer, Bayer Crop Science & Editas Medicine Among Others -...

Aggressive public health measures tostem the tidal wave of coronavirus infections have left people isolated,unemployed and wondering when it will all end. Life probably wont gocompletely back to normal until vaccines against the virus are available,experts warn.

Researchers are working hard on thatfront. At least six vaccines are currently being tested in people, says EstherKrofah, chief executive of the FasterCures center at the Milken Institute in Washington,D.C. We expect about two dozen more toenter clinical trials by this summer and early fall. That is a huge number,Krofah said at an April 17 briefing. Dozens more are in earlier stages oftesting.

In unpublished, preliminary results of a test of one vaccine, inoculated people made as many antibodies against the coronavirus as people who have recovered from COVID-19 (SN: 5/18/20). The mRNA-based vaccine induces human cells to make one of the viruss proteins, which the immune system then builds antibodies to attack. That study was small, only eight people, but a second phase of safety testing has begun.

But vaccinestake time to test thoroughly (SN: 2/21/20). Even with acceleratedtimelines and talk of emergency use of promising vaccines for health care workersand others at high risk of catching the virus, the general public will likelywait a year or more to be vaccinated.

In the meantime, new treatments may helpsave lives or lessen the severity of disease in people who become ill.Researchers around the world are experimenting with more than 130 drugs to findout if any can help COVID-19 patients, according to atracker maintained by the Milken Institute.

Some of those drugs are aimed atstopping the virus, while others may help calm overactive immune responses thatdamage lungs and other organs. Although researchers are testing a battery ofrepurposed drugs and devising new ones, there is still a great deal ofuncertainty over whether the drugs help, or maybe even hurt.

The wait is frustrating, but theres still much doctors and scientists dont know about how this new coronavirus affects the body. Getting answers will take time, and finding measures to counter the virus that are both safe and effective will take even more. Early results suggest that the antiviral drug remdesivir can modestly speed recovery from COVID-19 (SN: 5/13/20). It is not a cure, but the drug may become the new standard of care as researchers continue to test other therapies.

Scientists and journalists share a core belief in questioning, observing and verifying to reach the truth. Science News reports on crucial research and discovery across science disciplines. We need your financial support to make it happen every contribution makes a difference.

Antiviral drugs interfere with a viruss ability to replicate itself, though such drugs are difficult to create. Remdesivir is being tested in half a dozen clinical trials worldwide. The drug mimics a building block of RNA, the genetic material of the coronavirus (SN: 3/10/20). When the virus copies its RNA, remdesivir replaces some of the building blocks, preventing new virus copies from being produced, laboratory studies have shown.

Early results in COVID-19 patients given the drug outside of a clinical trial showed that 68 percent needed less oxygen support after treatment, as reported online April 10 in the New England Journal of Medicine (SN: 4/29/20). The drug went to very sick patients, including those who needed oxygen from a ventilator or through tubes in the nose. Other researchers have disputed those results, questioning the study methods and statistical analyses, which may have given an exaggerated impression of good outcomes. The studys authors say they have reanalyzed the data and still conclude that remdesivir has benefits.

Soon after, the U.S. National Instituteof Allergy and Infectious Diseases announced that hospitalized patients withCOVID-19 who got intravenous remdesivir recoveredmore quickly than those on a placebo: in 11 days versus 15. Those findingshad not been reviewed by other scientists at the time of the announcement. Thedug provides researchers with a baseline for comparing other treatments. Wethink its really opening the door to the fact that we now have the capabilityof treating, Anthony Fauci, director of the NIAID said April 29 in a newsbriefing at the White House.

Antiviral medications used against HIV are also being tested against COVID-19. The combination of lopinavir and ritonavir stops an HIV enzyme called the M protease from cutting viral proteins so that the virus can replicate itself. The SARS-CoV-2 virus produces a similar enzyme. But early results from a small study in China showed that the combination didnt stop viral replication or improve symptoms (SN: 3/19/20), and there were side effects.

For now, the Society of Critical CareMedicine recommendsagainst using the drugs, and the Infectious Diseases Society of Americasays patients should get the drugs onlyas part of a clinical trial. Several large trials may report results soon.

The HIV drugs may not work well against SARS-CoV-2, even though the viruses have similar M proteases: The coronaviruss enzyme lacks a pocket where the drugs fit in the HIV version of the enzyme.

This illustrates why antiviral drugs areso difficult to develop. Designing a drug requires knowing the 3-D structure ofthe viruss proteins, which can take months to years. But researchers arealready getting some close-up views of the new coronavirus. A team in Chinaexamined the structure of the coronaviruss M protease and designed smallmolecules that could block a part of the protein necessary to do its job. Theteam describedtwo such molecules, dubbed 11a and 11b, April 22 in Science.

In test tubes, both molecules stopped the virus from replicating in monkey cells. In mice, 11a stuck around longer in the blood than 11b, so the researchers tested 11a further and found it seemed safe in rats and beagles. More animal tests will probably be needed to show whether it stops the virus, then multiple stages of human tests will have to follow. The drug development and testing process often takes on average 10 years or more, and can fail at any point along the way.

Meanwhile, hundreds of thousands of people worldwide have already recovered from COVID-19, and many are donating blood that might contain virus-fighting antibodies. Clinical trials are under way to test whether antibodies from recovered patients blood plasma can help people fight off the virus (SN: 4/25/20, p. 6). More such trials are planned.

Stopping the virus is only half the problem. In some people seriously ill with COVID-19, their immune system becomes the enemy, unleashing storms of immune chemicals called cytokines. Those cytokines trigger immune cells to join the fight against the virus, but sometimes the cells go too far, causing damaging inflammation.

Some of the drugs used to calm cytokines in cancer patients (SN: 6/27/18, p. 22) may also help people with COVID-19 ride out the storm, says cancer researcher Lee Greenberger, chief scientific officer of Leukemia and Lymphoma Society. Several of those drugs are being tested against the coronavirus now.

Hydroxychloroquine, a drug approved totreat autoimmune disorders such as lupus and rheumatoid arthritis, became ahousehold word after President Trump touted it as a possible COVID-19treatment.

The drug is being tested in numerouslarge clinical trials around the world to see if it might help calm cytokinestorms in COVID-19 patients as well. But so far, there is no solid evidence thatit works either to prevent infection in people or to treat people who alreadyhave the disease.

And in some studies the drug has caused serious side effects, including causing irregular heartbeats, says Raymond Woosley, a pharmacologist at the University of Arizona College of Medicine in Phoenix. People with heart problems, low potassium or low oxygen levels in their blood are at higher risk of these side effects, he says. And those are exactly the kinds of patients who are most vulnerable to COVID-19. So, the very sickest COVID patients are those at most risk for these life-threatening arrhythmias and cardiac effects.

Results of some rigorous clinical trialsof hydroxychloroquine are expected this summer. Meanwhile, the U.S. Food andDrug Administration allows the drug to be used when no other treatment isavailable and patients cant join a clinical trial.

Todays enthusiasm for any drug thatseems promising feels familiar, says Woosley. He remembers the excitement overAZT, the first drug used to fight HIV in the 1980s. It wasnt the best drug tocombat the AIDS epidemic, and better ones came later. Likewise, the firsttreatments for COVID-19 might be better than nothing, but not the best we willultimately get.

Meanwhile, we wait.

With hundreds of clinical trials going on around the world, some answers may come soon. But for now, keeping the coronavirus contained will probably require aggressive testing, tracing and isolating contacts of people who have the virus and continued social distancing.

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As we wait for a vaccine, heres a snapshot of potential COVID-19 treatments - Science News

The massive international effort to map the entire human genome, completed in 2003, opened a new field we now know as personalized medicine.

The breakthrough, which identified the location and function of every human gene, offered the promise of medical care tailored specifically to individual patients, based on their personal genetic makeup.

When researchers identified a gene associated with a 44 per cent risk of breast cancer in women, for example, it seemed that protecting them might be as simple as deactivating that gene.

But the promise of such personalized medicine has not fully materialized, say two McMaster researchers, because the full sophistication of the genetic blueprint has a more complex and far-reaching influence on human health than scientists had first realized.

In the hope of integrating genetics more closely with medical practice, McMaster evolutionary biologists Rama Singh and Bhagwati Gupta have carried out an exhaustive and critical review of decades of research in their field. They lay out their conclusions inan articlepublished today in the Nature Partner JournalGenomic Medicine.

The biochemical pathway that shapes evolution is dense with inherited redundancies, they explain. Genetic information from our ancestors trails along forever in an incremental physical record that interacts significantly with our own most recently evolved and internally complex genetic network, which in turn interacts with the environment, creating almost infinite combinations and potential health outcomes.

Individual genes do not determine sickness or health on their own, the authors say, but act in concert with groups of other genes all in various stages of mutation in ways that are just beginning to be understood.

Our bodies have an immense ability to change and to cope with issues that arise. Context matters in our genome, Gupta says. Even a simple single mutation can have a profound effect on the body, when acting in combination with others.

The scientists conclude that precision medicine is still critical to the future of medicine, but that the same technology that identified the necessary complexity of the genome also needs to be applied to the entire blueprint including the unnecessary elements creating a longer, more complicated road to the same destination.

Any disease we see is a result of the interactions between necessary and unnecessary complexity, says Gupta.

Nature does not go back in time. It goes forward, and as it encounters challenges, it comes up with solutions.

Our genes carry the history of all the changes that have occurred over many generations. It may not be necessary to our function today, but it is embedded in our genes.

Complexity is not a curse. Its a reflection of our evolutionary history, and it needs to be recognized as an important part of the body that medicine is trying to treat, Singh says. Beyond personalized medicine, complexity bears on the evolution of life itself.

Reference:Rama S. Singh, Bhagwati P. Gupta. Genes and genomes and unnecessary complexity in precision medicine. npj Genomic Medicine, 2020; 5 (1) DOI: 10.1038/s41525-020-0128-1.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Personalized Medicine Complicated by Overlapping Versions of Our Genetic History - Technology Networks

As with any medical procedure, to undergo genetic testing, informed consent must be given.According to the National Institutes of Health, informed consent (in the context of genetic testing) is the process of making sure that, wherever possible, a patient fully understands:

With this information, a patient can make an educated, voluntary choice i.e. they are informed to a level such that they can provide consent. This is usually a legal and ethical requirement in medicine.Whilst this might seem like a relatively simple concept, for genetic testing, informed consent suddenly becomes a whole lot more complex. Bioethicists, experts in the ethical practice of biology and medicine, often use case studies to explore these complexities and to discuss potential solutions to the dilemmas arising from them.

Jodie is a 28-year-old woman who is thinking about having children. However, she has a family history of limb-girdle muscular dystrophy and is considering undergoing genetic screening to determine if she is a carrier of any variants (a.k.a. mutations in her genome) associated with the disease.

Genetic Counselor Margarita Raygada, Ph.D., explains the role of a genetic counselor in cancer care and shares the benefits and implications of genetic testing for patients and their families.Genetic counselors are individuals educated in both medical genetics and counseling. This gives them the expertise to provide patients with the knowledge required to give consent, but also to offer guidance and support. As such, they are most likely the person who will be responsible for gaining informed consent from the patient.

Laura Hercher, Director of Research in Human Genetics at Sarah Lawrence College, has almost 20 years experience working as a genetic counselor. She emphasizes that the role of counseling goes far beyond testing alone:

Genetic counseling is about more than genetic testing. It can obviously be about that, and a genetic counselor would be a good person to discuss genetic testing with, but we meet with people where genetic testing isn't on the table at all.

I think that there is an element of education in many genetic counseling sessions or interpretation but also in many circumstances, theres what we call establishing a therapeutic relationship, where you do the counseling side of it.

Continuing on this theme, Hercher points out a key aspect of genetic counseling and something which is crucial to the consent process but often forgotten amongst the hype surrounding genetic testing.

We [genetic counselors] don't take for granted that somebody will want genetic testing. They have the right to say no these are shared norms in genetics in the UK and the US.

However, in Jodies case, she has expressed interest in genetic testing. How does a genetic counselor go about establishing informed consent for this?

You have to consider both of these two very basic things, Hercher begins. Make sure the person has an understanding of what genetic testing may tell them and also have an understanding of what genetic testing may not tell them.

These are very important to understand because, number one, you don't want someone to walk away from the experience saying, "Okay, great, I've been tested. I don't have a disease, if that isn't comprehensive.

Number two, we want to talk about what the test will show the patient, both in terms of setting up correct expectations that's consent but also by identifying additional things they might find out that are not necessarily the goals of testing.

The blood sample provided by Jodie undergoes whole exome sequencing. Upon sequence analysis, its found that Jodie does not have any of the variants currently associated with limb-girdle muscular dystrophy. However, the person analyzing the data also checks for other common disease-associated variants. They discover that Jodie has a mutation in BRCA2 that puts her at a higher risk of developing breast and/or ovarian cancer.

The discovery described above is known as a secondary finding, meaning that whilst its identification may not have been the main goal of the test, its presence was actively sought. This is different to an incidental finding, although the terms are often used interchangeably.The potential for secondary findings demonstrates how consent in genetic testing isnt as simple as a single yes or no answer. The decision to actively look for other variants and have them reported back provides an additional layer of consideration to the consent process.

In 2013, the American College of Medical Genetics and Genomics (AMCG) published recommendations for the responsible handling of incidental findings emerging from clinical exome or genome sequencing. This includes clinicians being responsible for alerting patients to the possibility that sequencing could result in incidental findings, and that these may warrant further investigation.1A proper informed consent for genetic testing would give the person a notion of what they might encounter as a part of testing, and what choices they have, about what [testing or results] they can get and what not to get, if there are choices available in the setting in which you're operating.

Jodie doesnt just have a decision to make about whether or not she wants the test, she also has to consider what results she would want reported back to her. The availability of choice is an important one because of the potential implications, both physically and mentally, of being given information you werent expecting or didnt want to receive.

Jodies results show that she, and potentially her first-degree relatives, are at a high risk of developing breast and/or ovarian cancer. Although it isnt a guarantee that she would develop those diseases, this knowledge could impact upon decisions she makes about her healthcare. For people carrying a disease-associated BRCA mutation, preventative, albeit drastic, surgical measures may be available, including mastectomies and oophorectomies.

Preventative surgery, or even just knowing that you may develop a disease can also take an emotional toll. In addition, a patient could find out that they have variation that means they will develop a condition at some point in their lifetime, such as Huntingtons disease. This may have an impact on mental health if there are currently very limited or no treatment options for the condition diagnosed, although further and continual research needs to be conducted to assess the extent of such an impact.

Secondary findings can also emerge with advances in research; a variant that may not have been considered a pathogenic variant before could be considered so in the future, or vice versa. Patients like Jodie would need to think about whether they would want to be re-contacted with new or updated information.

Thats a lot of factors for someone to consider before consenting. How can we simplify consent to account for all of those decisions and outcomes, if its even possible?

This requires time something which the healthcare system doesnt always have enough of. How do we create a process that works for both clinicians and patients?

The answers people are coming up with tend to be that we need better tools, Hercher tells me. And that includes online or digital tools that would allow people to interact with the information. You know, if you sit somebody down and spout off 15 minutes worth of information, dense information, you're not doing anything for them.

So, what's needed to improve the situation is new tools that allow people to tackle it over time, at their own pace, exploring what they want to and when. That would optimize the situation for both the caregiver and the patient. And allow them to go back to it [the information] to refresh their memory and so on. The optimal consent process is not "let's decide everything we can fit into this space of time consent, optimally, is an ongoing process.

Research conducted in the UK seems to agree. A recent report from the Joint Committee on Genomics in Medicine sums it up nicely:Consent may be more appropriately seen as an ongoing conversation that needs updating and clarifying where necessary, rather than as a single historical event that needs to be revisited.Reference

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Exploring the Ethics of Genetic Testing: What Does Consent Mean? - Technology Networks

Glaucoma is an eye disease affecting almost 80 million people and is the second leading cause of blindness worldwide.

Glaucoma results in progressive damage to the optic nerve head, which leads to a corresponding visual field loss and when severe, blindness. The pressure within the eye (intraocular pressure) is the only modifiable risk factor for glaucoma.

Glaucoma has a clear genetic component and tens of common genetic variants affecting intraocular pressure and/or glaucoma risk have been identified. The clinical impact of these results has, however, thus far been negligible.

In this study, published in the journal PLOS Genetics, researchers searched for less common genetic variants which might lower intraocular pressure and protect from glaucoma and focused on those with a clear effect on the function of the corresponding protein product. Such variants have particularly high therapeutic potential since they would highlight a specific gene and a genetic modification that protects from disease.

The results of the study are based on two big European cohorts with large-scale genome and health information data available. Altogether more than 514,000 individuals from the UK Biobank and the FinnishFinnGenstudies were examined. Both cohorts include thousands of individuals with a glaucoma diagnosis. Furthermore, over 120 000 UK Biobank participants have participated in the intraocular pressure measurement tests.

Both study cohorts provided independent, complementary and convincing evidence for the role of theANGPTL7gene in glaucoma. UK Biobank participants carried several rare genetic changes that were shown to reduce intraocular pressure, while FinnGen study provided very strong evidence of another variant specific to the Finnish population which significantly decreased glaucoma risk.

The variant we identified is more than 50 times more common in the Finnish population than elsewhere in the world. In fact, more than 8% of Finns carry it and have a substantially reduced risk of glaucoma. This again demonstrates how the population history of the Finns makes it much easier to identify clinically important genetic variants, said ProfessorMark Dalyfrom the Institute for Molecular Medicine Finland (FIMM), University of Helsinki who co-led the study.

With clinic-based recruitment focused on several areas including ophthalmology, and with more than 30 % of the participants being above age 70, FinnGen is particularly well-powered for aging-associated endpoints.

We often think of the body as a machine whereby taking a single bolt out of that machine and something could go wrong. In this study that hypothetical bolt made the machine work even better by protecting human individuals from glaucoma. Our results highlight the benefits of multi-cohort analysis for the discovery of rare protein-altering variants in common diseases, and ANGPTL7 provides the best therapeutic hypothesis out there for glaucoma, saidManuel Rivas,assistant professor of biomedical data science, Stanford Universitys School of Medicine, who co-led the study.

Importantly, cohorts such as FinnGen and UK Biobank make it possible for the researchers to assess whether the identified protective variants increase the risk of some other condition.

Using the comprehensive health information in the two population cohorts, we assessed the potential impacts of rare genetic variants inANGPTL7on a spectrum of human disorders. We did not find any severe medical consequences that would be of obvious concern in developing a therapeutic to mimic the effect of these alleles, saidYosuke Tanigawa,doctoral student, Stanford Universitys School of Medicine, the first author of the study.

Better understanding of the genetic and pathological mechanism behind intraocular pressure can open up new ways of preventing or treating glaucoma. In this case, the genetic findings support inhibition or lowering the amount of ANGPTL7 as a potentially safe and effective therapeutic strategy for glaucoma.

Our results position angiopoietin like 7 as an appealing and safe target for glaucoma therapies. If a drug can be developed that mimics the protective effect of these mutations, intraocular pressure in at-risk individuals could be lowered, saidMark Daly.

Reference:Tanigawa et al. (2020).Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLOS Genetics. DOI: https://doi.org/10.1371/journal.pgen.1008682.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Gene Variants That Protect Against Glaucoma Discovered - Technology Networks

- 70 sepsis risk genes identified from UK Biobank, 61% of which are present specifically in severe COVID-19 patients ('COVID risk genes')

- 13 'COVID risk genes' identified as known druggable targets

- 59 compounds and drugs identified with potential for accelerated drug discovery ('repurposing')

- Study also offers potential for identifying COVID-19 high risk biomarkers

OXFORD, England, May 6, 2020 /PRNewswire/ -- Data scientists from UK-headquartered AI precision medicine company, PrecisionLife, have used the Company's proprietary AI enabled precision medicine platform to identify 59 repurposing drug candidates that could be used to develop new therapeutic strategies to increase the survival rate of patients who develop sepsis while suffering from severe COVID-19.

Disease architecture of the sepsis cohort generated by the PrecisionLife platform. Each circle represents a disease associated SNP genotype, edges represent co-association in patients, and colors represent distinct patient sub-populations or communities'.

The new study, released today on Biorxiv sought to identify genetic risk factors for sepsis especially in the context of COVID-19, and to use these insights to identify existing drugs that might be used to treat life-threatening late-stage disease.

"Ours is the first study looking at host genomics and opportunities to treat later stage severe disease where host immune processes take over,"said Dr Steve Gardner CEO of PrecisionLife.

Like the initial genomic studies on COVID-19 patients, previous analyses of sepsis patients have failed to identify more than a handful of genetic variants that predispose individuals to developing the disease. By providing deeper insights, this study identifies novel approaches and hope for new therapies.

PrecisionLife analyzed patient datasets compiled by UK Biobank to identify genes associated with sepsis, which are also found in severe COVID-19 patients. Sepsis is observed in 60% of severe COVID-19 patients and is a life-threatening condition with a mortality rate of approximately 20%.

The team identified mutations in 70 sepsis risk genes, 61% of which were also present specifically in severe COVID-19 patients. Several of the disease associated genetic signatures found in both sepsis and severe COVID-19 patients have previously been linked to cancer, immune response, endothelial and vascular inflammation and neuronal signalling.

13 of the sepsis risk genes, which the study shows are also COVID risk genes, are known to be druggable i.e. targeted by active chemical compounds used to treat these other diseases and therefore represent potential drug repurposing opportunities. The study went on to identify 59 compounds and drugs that are known to be active against these 13 targets. These could form the basis for future drug trials and repurposing projects. They could also offer potential as COVID-19 high risk biomarkers.

"Our high-resolution genomic analysis tools have allowed us to develop new insights into two serious and complex diseases for which new therapeutic options are urgently required. We hope that these will lead to better understanding of what drives sepsis in COVID-19 patients and result in new ways to treat seriously ill patients," said Dr Gardner.

PrecisionLife is disclosing its new insights and will be working with international collaborators to investigate therapeutic strategies that may help to reduce the high mortality rates in patients who develop sepsis with or without the context of COVID-19.

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As more COVID-19 patient data become available in UK Biobank and other patient data sources, PrecisionLife will be able to analyze the clinical impact of these disease signatures in a larger group of patients.

For more information, please see http://www.precisionlife.com, or email covid-19@precisionlife.com.

Follow us on Twitter @precisionlifeAI and on LinkedIn http://www.linkedin.com/company/precisionlifeai

About PrecisionLife

PrecisionLife Ltd started in 2015, built on a shared vision to bring a new level of analytical capability to computational biology, genomic medicine and healthcare. Its powerful data analytics platform is built on a unique mathematical framework and over 30 years' experience in delivering new technologies and products to enable the discovery of richer and more useful links between patients, disease, targets and drugs.

Headquartered in the UK, PrecisionLife also has operations in the US, Denmark and Poland.

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AI Precision Medicine Company, PrecisionLife, Have Identified 59 Repurposing Drug Candidates That Could Be Used to Increase the Survival Rate of...

Higher alcohol consumption was shown to be associated with an increased risk of having a stroke or developing peripheral artery disease, according to new research published in Circulation: Genomic and Precision Medicine.While observational studies have consistently shown that heavy alcohol consumption is associated with an increased risk of certain cardiovascular diseases, they often use self-reported data and are unable to determine cause. Researchers in this study used a different technique called Mendelian randomization that identifies genetic variants with a known association to potential risk factors to determine the potential degree of disease risk.

Since genetic variants are determined at conception and cannot be affected by subsequent environmental factors, this technique allows us to better determine whether a risk factor in this case, heavy alcohol consumption is the cause of a disease, or if it is simply associated, said Susanna Larsson, Ph.D., senior researcher and associate professor of cardiovascular and nutritional epidemiology at Karolinska Institutet in Stockholm, Sweden. To our knowledge, this is the first Mendelian randomization study on alcohol consumption and several cardiovascular diseases.

Researchers analyzed the genetic data from several large-scale consortia and the UK Biobank, which follows the health and well-being of 500,000 United Kingdom residents. Results indicate that with higher alcohol consumption:

Higher alcohol consumption is a known cause of death and disability, yet it was previously unclear if alcohol consumption is also a cause of cardiovascular disease. Considering that many people consume alcohol regularly, it is important to disentangle any risks or benefits, Larsson said.Researchers noted that this study suggested the mechanism by which higher consumption was associated with the risk of stroke and PAD may be blood pressure.

According to a statement on dietary health, the American Heart Association believes that alcohol intake can be a component of a healthy diet if consumed in moderation (no more than one alcoholic drink per day for women and 2 alcohol drinks per day for men) and only by nonpregnant women and adults when there is no risk to existing health conditions, medication-alcohol interaction, or personal safety and work situations. One drink is equivalent to 12 ounces of beer (5% alcohol); 5 ounces of wine (12% alcohol); or 1.5 ounces of 80-proof distilled spirits (40% alcohol).

The study has some limitations. According to Dr. Larsson, the prevalence of heavy drinking in the UK Biobank was low, and it is unlikely that the burden of increased risk of cardiovascular disease is restricted to heavy drinkers alone. Also, the exact amount and frequency of alcohol consumed could not be quantified for this study. The researchers said the causal role of alcohol consumption on cardiovascular diseases other than stroke and peripheral artery disease requires further research.ReferenceLarsson et al. (2020). Alcohol Consumption and Cardiovascular Disease: A Mendelian Randomization Study. Circulation: Genomic and Precision Medicine. DOI: https://doi.org/10.1161/CIRCGEN.119.002814

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Genetic Study Links Higher Alcohol Consumption to Increased Stroke and PAD Risk - Technology Networks

New research suggests the prevalence of infection has links to the development of some types of cancer.

A new study has suggested that before developing some forms of cancer, people experienced increased rates of infectious diseases, such as influenza and pneumonia.

The study, published in the journal Cancer Immunology Research, might help develop diagnostic methods for detecting cancers.

Previous research has indicated that there is a link between immunity, inflammation, and cancer.

Inflammation can promote the development of cancers. This can compromise a persons immune system, which can, in turn, increase inflammation.

Dr. Shinako Inaida, a visiting researcher at the Graduate School of Medicine at Kyoto University in Japan and the corresponding author of the study, explains. Cancer can develop in an inflammatory environment caused by infections, immunity disruption, exposure to chemical carcinogens, or chronic or genetic conditions.

An individuals immunity is thought to be a factor in the development of cancer, but additional research is needed to understand the relationship [between] precancerous immunity, infections, and cancer development. This information may contribute to efforts to prevent or detect cancer.

Consequently, it may be valuable to investigate the relationship between immunity, inflammation, and cancers.

The researchers wanted to understand the relationship between the prevalence of specific infectious diseases that could cause inflammation and cancer development.

To investigate, the authors took their information from a 7-year Japanese social health insurance system database.

The researchers looked at data from 50,749 participants. All the participants were over the age of 30 and did not have any detected immunodeficiency.

The case group comprised 2,354 participants who had developed a form of cancer in the 7th year of the study. The control group consisted of 48,395 people who had no cancer diagnosis during the 7 years of the study, plus an additional final year.

The authors then calculated the prevalence of influenza, gastroenteritis, hepatitis, and pneumonia infections for the two groups.

The authors found a clear link between the prevalence of the four illnesses and the later development of cancer.

The case group experienced significantly higher infection rates than the control group in the 6 years before cancer diagnosis.

Members of the case group experienced higher rates of infection in the year before their cancer diagnosis than those in the control group. During this year, the case group experienced an 18% greater infection of influenza, 46.1% of gastroenteritis, 232.1% of hepatitis, and 135.9% for pneumonia than the control group.

The authors also noted that there was a relationship between different infections and different cancers.

For example, people who developed male germ cell cancers were more likely to have experienced influenza. People who developed stomach cancer were more likely to have had pneumonia, and people who developed blood or bone cancers were more likely to have had hepatitis.

However, as Dr. Inaida points out, [i]nterestingly, we found that infection afflicting a specific organ did not necessarily correlate with increased risk of cancer in the same organ.

The authors point out that the study had some limitations. For example, the data provided limited information on underlying genetic and medical conditions, as well as environmental exposures and different lifestyles. These may have affected the chances of infection and developing cancer.

Nonetheless, by making clear an association between infections, inflammation, immunity, and the development of cancers, future research can look in more detail at the precise mechanisms that govern these relationships.

This may then open the door to better diagnostic methods.

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Infection rates may have links to cancer - Medical News Today

DetailsCategory: More NewsPublished on Monday, 04 May 2020 11:30Hits: 525

SAN RAFAEL, CA, USA I May 3, 2020 I BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that the company has entered into a preclinical collaboration and license agreement with DiNAQOR AG (DiNAQOR), a gene therapy platform company, to develop novel gene therapies to treat rare genetic cardiomyopathies. DiNAQOR will receive an undisclosed upfront payment and is eligible to receive development, regulatory and commercial milestones on product sales in addition to tiered royalties on worldwide sales. The company did not disclose financial terms. BioMarin management reiterated its 2020 GAAP net income guidance of $20 to $80 million, inclusive of this collaboration.

The license initially covers DiNAQOR's lead program, DiNA-001 for MYBPC3 hypertrophic cardiomyopathy (HCM). Additionally, the companies will collaborate on several of DiNAQOR's other pipeline programs, and BioMarin has the option to extend the license to include these additional programs on similar terms. Reflecting the long-term commitment to the collaboration, BioMarin is simultaneously investing in DiNAQOR.

"With this agreement, BioMarin is continuing to apply its gene therapy know-how and manufacturing expertise in new areas like cardiology," said Jean-Jacques Bienaim, Chairman and Chief Executive Officer at BioMarin. "This collaboration extends our global leadership position in gene therapy and boosts our potential to transform the lives of patients worldwide with rare genetic cardiomyopathies."

"We are thrilled to collaborate with the researchers at DiNAQOR to conduct this pioneering work on the development of gene therapies for inherited cardiomyophathies," said Lon Cardon, Chief Scientific Strategy Officer and Senior Vice President at BioMarin. "We believe there is tremendous potential in combining our experience in gene therapy research and development with DiNAQOR's in-depth knowledge of genetic heart diseases."

DiNAQOR was founded and is led by several leading pharmaceutical and biotechnology executives and academics with deep cardiology and gene therapy expertise. The company's holistic approach to gene therapy is focused on gene therapies for the heart that deliver a medical solution that can safely deliver gene therapies to the heart muscle, ensure transduction of the cardiac cells, and limit the exposure of the therapy to other organs.

"BioMarin is a global leader in rare disease research, development and commercialization, and their commitment to DiNA-001 is a powerful validation of DiNAQOR's gene therapy platform," said Dr. Johannes Holzmeister, Co-Founder, Chairman and CEO at DiNAQOR. "We believe our platform has many potential applications and this milestone agreement will enable us to invest in expanding our genetic medicine pipeline."

"Momentum for gene therapies continues to build, and BioMarin has demonstrated tremendous scientific, clinical, and manufacturing leadership and expertise in the space," said Thomas Voit, M.D., Ph.D., Co-Founder and Chief Scientific Officer at DiNAQOR and Director of the Biomedical Research Centre at the Great Ormond Street Hospital and the UCL Institute of Child Health, University College London. "We are looking forward to combining our strengths to expand the promise of gene therapy treatments by targeting the heart muscle to treat rare genetic cardiomyopathies."

About HCM and MYBPC3

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic heart diseases, with about 500,000 patients diagnosed with HCM worldwide.Up to 60% of HCM cases have a genetic origin, and it is estimated that 40% of those have mutations in MYBPC3, the gene that encodes cardiac myosin-binding protein C (MyBP-C).

HCMaffects the heart muscle, causing the muscle to enlarge. HCM patients have an increased risk of developing heart failure and life-threatening arrhythmias. There are no approved pharmacological treatment options available that address the underlying disease biology of HCM and invasive surgery or heart transplantation may be the only options available for patients with advanced disease.

About BioMarin

BioMarin is a global biotechnology company that develops and commercializes innovative therapies for serious and life-threatening rare genetic diseases. The Company's portfolio consists of six commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visitwww.biomarin.com. Information on BioMarin's website is not incorporated by reference into this press release.

About DiNAQOR

Founded in 2019, DiNAQOR AG is a global gene therapy platform company focused on advancing novel solutions for patients suffering from heart disease. The company's lead preclinical program, DiNA-001 is focused on the treatment of MYBPC3-linked cardiomyopathy. DiNAQOR is headquartered in Pfffikon, Switzerland, with additional presence in London, England and Boston, Massachusetts (US). For more information visit http://www.dinaqor.com.

SOURCE: BioMarin Pharmaceutical

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BioMarin Extends Gene Therapy Leadership with DiNAQOR in a Preclinical Collaboration and License Agreement to Develop Gene Therapies for Rare Genetic...

The novel coronavirus behind the COVID-19 pandemic may have jumped from its original animal host into humans as early as October, according to the latest analysis of the changing viral genome.

Scientists analysing the genetic trees of 7,666 SARS-CoV-2 genomes collected from around the world estimated a common ancestor to the circulating COVID virus strains as having most likely appeared in China at some point between Oct. 6 and Dec. 11, 2019.

The genomic diversity of the global SARS-CoV-2 population being recapitulated in multiple countries points to extensive worldwide transmission of COVID-19, likely from extremely early on in the pandemic, they write in a paper just published in the peer-reviewed journal Infection, Genetics and Evolution.

This suggests that the virus was probably infecting people in multiple countries weeks or even months before the official outbreak began in January 2020 in Wuhan, China.

All these ideas about trying to find a Patient Zero are pointless because there are so many patient zeros, genetics researcher Francois Balloux of the University College London Genetics Institute told CNN. It has been introduced and introduced and introduced in almost all countries.

However, despite this evidence of the virus already circulating globally much earlier than previously suspected, the scientists squashed the hopeful notion that sufficient numbers of people might already have been exposed to the virus to build up substantial herd immunity around the world.

This rules out any scenario that assumes SARS-CoV-2 may have been in circulation long before it was identified, and hence have already infected large proportions of the population, the scientists wrote in their paper, entitled Emergence of genomic diversity and recurrent mutations in SARS-CoV-2.

The latest analysis provides no evidence to support recent conspiracy theories asserting that the COVID-19 virus was deliberately created or released, intentionally or otherwise, from a lab. The authors reference earlier genetic analysis making clear that SARS-CoV-2 has natural origins, most likely having jumped into humans originally from bats.

SARS-CoV-2 shares 96 percent of its genome with a horseshoe bat virus called BatCoV RaTG13, which researchers say shows no evidence of recombination events. An intermediate animal host connecting this bat virus to human COVID has still not been definitively identified, but is thought to have been pangolins an endangered animal illegally traded in Asian wildlife markets and also widely used in non-scientific Chinese medicine.

Dr. Anthony Fauci,director of the United States National Institute of Allergies and Infectious Diseases, has also spoken out strongly against ideas of deliberate or even accidental release from a Chinese lab. Everything about the stepwise evolution over time strongly indicates that [this virus] evolved in nature and then jumped species, Fauci told National Geographic.

There is some good news from this latest genomic analysis because it shows only a limited rate of mutations among the multiple strains of SARS-CoV-2, which still have enough of their genes and proteins in common to mean that any vaccine or treatment drug should have long-term efficacy.

The study also helps identify the parts of the SARS-CoV-2 genome which are conserved meaning they stay the same despite other genetic variations helping vaccine researchers better identify targets for their differing approaches. The researchers write that it is important to stress that there is no evidence for the evolution of distinct phenotypes in SARS-CoV-2 at this stage.

According to the World Health Organization, there are now more than 100 COVID-19 candidate vaccines in development around the world.

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Covid pandemic might have begun as early as October, experts say - Alliance for Science

SAN FRANCISCO, May 5, 2020 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), a leading medical genetics company, today announced financial and operating results for the first quarter ended March 31, 2020.

"We started the year with a very strong quarter, delivering record growth in volume and first quarter revenues and giving us strong momentum as we began experiencing impacts from the pandemic. As healthcare has shifted, we have been able to quickly leverage our pre-existing strengths, notably our telehealth offerings and our ability to deliver genetic testing remotely," said Sean George, co-founder and chief executive officer of Invitae. "Looking ahead, our investments in diversified products, services, technologies and geographies mean we are well-equipped to drive growth across an increasing number of customer segments as we drive genetics into mainstream medicine."

First Quarter 2020 Financial Results

Total operating expense, excluding cost of revenue, for the first quarter of 2020 was $121.6 million. Non-GAAP operating expense, which excludes amortization of acquired intangible assets and acquisition-related stock-based compensation, was $101.9 million in the first quarter of 2020. Interest and other expense, net and net loss are preliminary and subject to change as we finalize acquisition-related adjustments. These adjustments will be incorporated in Invitae's Form 10-Q to be filed with the SEC on or before May 11, 2020.

Preliminary net loss for the first quarter of 2020 was $102.2 million, or $1.03 preliminary net loss per share, compared to a net loss of $37.7 million in the first quarter of 2019, or $0.47 net loss per share. Preliminary non-GAAP net loss was $79.8 million in the first quarter of 2020, or $0.80 preliminary non-GAAP net loss per share.

At March 31, 2020 cash, cash equivalents, restricted cash, and marketable securities totaled $301.0 million. Net decrease in cash, cash equivalents and restricted cash for the quarter was $61.0 million. Cash burn, including various acquisition-related expenses, was $98.5 million for the quarter; $66.2 million when excluding $32.3 million cash paid to acquire Diploid.

In April, the company completed a public offering of common stock, resulting in gross proceeds of $184.0 million and $173.0 million in net proceeds after deducting underwriting discounts and commissions and offering expenses.

COVID-19 ImpactGlobal stay-at-home orders, lockdowns and shutdown of non-emergency healthcare and elective procedures began impacting Invitae during the second half of March. Invitae took a number of steps in response, including:

The impact of the pandemic on testing volume has and is likely to continue to vary based on clinical area, geography and clinician type. In response, the company has taken a number of steps to reduce cash burn.

The company is continuing to closely monitor the impact of the COVID-19 pandemic and plans to continue to reduce previously communicated cash burn through the remainder of 2020.

Given the unknown duration and extent of COVID-19's impact on our business, and the healthcare system in general, Invitae has previously withdrawn its 2020 guidance.

Corporate and Scientific Highlights

Webcast and Conference Call DetailsManagement will host a conference call and webcast today at 4:30 p.m. Eastern / 1:30 p.m. Pacific to discuss financial results and recent developments. The dial-in numbers for the conference call are (866) 324-3683 for domestic callers and (509) 844-0959 for international callers, and the reservation number for both is 9557177. Please note, after dialing in, you will be prompted to enter the Conference ID and then the pound "#" sign to enter the call. Following prepared remarks, management will respond to questions from investors and analysts, subject to time limitations.

The live webcast of the call and slide deck may be accessed by visiting the investors section of the company's website atir.invitae.com. A replay of the webcast and conference call will be available shortly after the conclusion of the call and will be archived on the company's website.

About InvitaeInvitae Corporation(NYSE: NVTA)is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to preliminary financial results, including preliminary net loss and net loss per share; the company's belief that it has been able to quickly leverage its telehealth offerings and its ability to deliver genetic testing remotely; he company's belief that it is well-equipped to drive growth across an increasing number of customer segments as it drives genetics into mainstream medicine; the impact of the COVID-19 pandemic on the company's business, and the measures it has taken or may take In the future with respect thereto; the impact of the company's acquisitions, partnerships and product offerings; and the company's beliefs regarding the growth of its business, its position and impact on the genetic testing industry, its success in executing on its mission and achieving its goals, and the benefits of genetic testing. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the impact of the COVID-19 pandemic on the company, and the effectiveness of the efforts it has taken or may take in the future in response thereto; the completion of the closing process, including finalization of acquisition-related adjustments and the magnitude thereof; the company's ability to continue to grow its business, including internationally; the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the company's failure to successfully integrate or fully realize the anticipated benefits of acquired businesses; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Non-GAAP Financial MeasuresTo supplement Invitae's consolidated financial statements prepared in accordance with generally accepted accounting principles in the United States (GAAP), the company is providing several non-GAAP measures, including non-GAAP gross profit, non-GAAP cost of revenue, non-GAAP operating expense, including non-GAAP research and development, non-GAAP selling and marketing and non-GAAP general and administrative, as well as non-GAAP net loss and net loss per share and non-GAAP cash burn. These non-GAAP financial measures are not based on any standardized methodology prescribed by GAAP and are not necessarily comparable to similarly-titled measures presented by other companies. Management believes these non-GAAP financial measures are useful to investors in evaluating the company's ongoing operating results and trends.

Management is excluding from some or all of its non-GAAP operating results (1) amortization of acquired intangible assets and (2) acquisition-related stock-based compensation related to inducement grants. These non-GAAP financial measures are limited in value because they exclude certain items that may have a material impact on the reported financial results. Management accounts for this limitation by analyzing results on a GAAP basis as well as a non-GAAP basis and also by providing GAAP measures in the company's public disclosures.

Cash burn excludes (1) changes in marketable securities and (2) cash received from exercises of warrants. Management believes cash burn is a liquidity measure that provides useful information to management and investors about the amount of cash consumed by the operations of the business. A limitation of using this non-GAAP measure is that cash burn does not represent the total change in cash, cash equivalents, and restricted cash for the period because it excludes cash provided by or used for other operating, investing or financing activities. Management accounts for this limitation by providing information about the company's operating, investing and financing activities in the statements of cash flows in the consolidated financial statements in the company's most recent Quarterly Report on Form 10-Q and Annual Report on Form 10-K and by presenting net cash provided by (used in) operating, investing and financing activities as well as the net increase or decrease in cash, cash equivalents and restricted cash in its reconciliation of cash burn.

In addition, other companies, including companies in the same industry, may not use the same non-GAAP measures or may calculate these metrics in a different manner than management or may use other financial measures to evaluate their performance, all of which could reduce the usefulness of these non-GAAP measures as comparative measures. Because of these limitations, the company's non-GAAP financial measures should not be considered in isolation from, or as a substitute for, financial information prepared in accordance with GAAP. Investors are encouraged to review the non-GAAP reconciliations provided in the tables below.

INVITAE CORPORATION

Consolidated Balance Sheets

(in thousands)

(unaudited)

March 31,2020

December 31,2019

Assets

Current assets:

Cash and cash equivalents

$

90,220

$

151,389

Marketable securities

204,388

240,436

Accounts receivable

37,734

32,541

Prepaid expenses and other current assets

25,085

18,032

Total current assets

357,427

442,398

Property and equipment, net

41,085

37,747

Operating lease assets

37,588

36,640

Restricted cash

6,343

6,183

Intangible assets, net

163,378

125,175

Goodwill

177,432

126,777

Other assets

7,635

6,681

Total assets

$

790,888

$

781,601

Liabilities and stockholders' equity

Total liabilities and stockholders' equity

$

790,888

$

781,601

Certain line items have been condensed as we finalize acquisition-related adjustments. These adjustments will be incorporated in Invitae's Form 10-Q to be filed with the SEC on or before May 11, 2020.

INVITAE CORPORATION

Consolidated Statements of Operations

(in thousands, except per share data)

(unaudited)

Three Months EndedMarch 31,

2020

2019

Revenue:

Test revenue

$

63,078

$

39,619

Other revenue

1,170

934

Total revenue

64,248

40,553

Cost of revenue

40,422

21,254

Research and development

55,668

17,994

View post:
Invitae Reports More Than $64 Million in Revenue Driven by More Than 154,000 Samples Accessioned in the First Quarter of 2020 - PRNewswire

The novel coronavirus causing COVID-19 seems to hit some people harder than others, with some people experiencing only mild symptoms and others being hospitalized and requiring ventilation. Though scientists at first thought age was the dominant factor, with young people avoiding the worst outcomes, new research has revealed a suite of features impacting disease severity. These influences could explain why some perfectly healthy 20-year-old with the disease is in dire straits, while an older 70-year-old dodges the need for critical interventions.

These risk factors include:AgeDiabetes (type 1 and type 2)Heart disease and hypertensionSmokingBlood typeObesityGenetic factors

About 8 out of 10 deaths associated with COVID-19 in the U.S. have occurred in adults ages 65 and older, according to the U.S. Centers for Disease Control and Prevention (CDC). The risk of dying from the infection, and the likelihood of requiring hospitalization or intensive medical care, increases significantly with age. For instance, adults ages 65-84 make up an estimated 4-11% of COVID-19 deaths in the U.S, while adults ages 85 and above make up 10-27%.

The trend may be due, in part, to the fact that many elderly people have chronic medical conditions, such as heart disease and diabetes, that can exacerbate the symptoms of COVID-19, according to the CDC. The ability of the immune system to fight off pathogens also declines with age, leaving elderly people vulnerable to severe viral infections, Stat News reported.

Related: Coronavirus in the US: Latest COVID-19 news and case counts

Diabetes mellitus a group of diseases that result in harmful high blood sugar levels also seems to be linked to risk of more severe COVID-19 infections.

The most common form in the U.S. is type 2 diabetes, which occurs when the body's cells don't respond to the hormone insulin. As a result, the sugar that would otherwise move from the bloodstream into cells to be used as energy just builds up in the bloodstream. (When the pancreas makes little to no insulin in the first place, the condition is called type 1 diabetes.)

In a review of 13 relevant studies, scientists found that people with diabetes were nearly 3.7 times more likely to have a critical case of COVID-19 or to die from the disease compared with COVID-19 patients without any underlying health conditions (including diabetes, hypertension, heart disease or respiratory disease), they reported online April 23 in the Journal of Infection.

Even so, scientists don't know whether diabetes is directly increasing severity or whether other health conditions that seem to tag along with diabetes, including cardiovascular and kidney conditions, are to blame.

That fits with what researchers have seen with other infections and diabetes. For instance, flu and pneumonia are more common and more serious in older individuals with type 2 diabetes, scientists reported online April 9 in the journal Diabetes Research and Clinical Practice. In a literature search of relevant studies looking at the link between COVID-19 and diabetes, the authors of that paper found a few possible mechanisms to explain why a person with diabetes might fare worse when infected with COVID-19. These mechanisms include: "Chronic inflammation, increased coagulation activity, immune response impairment and potential direct pancreatic damage by SARS-CoV-2."

Related: 13 coronavirus myths busted by science

Mounting research has shown the progression of type 2 diabetes is tied to changes in the body's immune system. This link could also play a role in poorer outcomes in a person with diabetes exposed to SARS-CoV-2, the virus that causes COVID-19.

No research has looked at this particular virus and immune response in patients with diabetes; however, in a study published in 2018 in the Journal of Diabetes Research, scientists found through a review of past research that patients with obesity or diabetes showed immune systems that were out of whack, with an impairment of white blood cells called Natural Killer (NK) cells and B cells, both of which help the body fight off infections. The research also showed that these patients had an increase in the production of inflammatory molecules called cytokines. When the immune system secretes too many cytokines,a so-called "cytokine storm" can erupt and damage the body's organs. Some research has suggested that cytokine storms may be responsible for causing serious complications in people with COVID-19, Live Science previously reported. Overall, type 2 diabetes has been linked with impairment of the very system in the body that helps to fight off infections like COVID-19 and could explain why a person with diabetes is at high risk for a severe infection.

Not all people with type 2 diabetes are at the same risk, though: A study published May 1 in the journal Cell Metabolism found that people with diabetes who keep their blood sugar levels in a tighter range were much less likely to have a severe disease course than those with more fluctuations in their blood sugar levels.

Scientists aren't sure whether this elevated risk of a severe COVID-19 infection also applies to people with type 1 diabetes (T1D). A study coordinated by T1D Exchange a nonprofit research organization focused on therapies for those with type 1 diabetes launched in April to study the outcomes of T1D patients infected with COVID-19. When a person with T1D gets an infection, their blood sugar levels tend to spike to dangerous levels and they can have a buildup of acid in the blood, something called diabetic ketoacidosis. As such, any infection can be dangerous for someone with type 1 diabetes.

People with conditions that affect the cardiovascular system, such as heart disease and hypertension, generally suffer worse complications from COVID-19 than those with no preexisting conditions, according to the American Heart Association. That said, historically healthy people can also suffer heart damage from the viral infection.

The first reported coronavirus death in the U.S., for instance, occurred when the virus somehow damaged a woman's heart muscle, eventually causing it to burst, Live Science reported. The 57-year-old maintained good health and exercised regularly before becoming infected, and she reportedly had a healthy heart of "normal size and weight." A study of COVID-19 patients in Wuhan, China, found that more than 1 in 5 patients developed heart damage some of the sampled patients had existing heart conditions, and some did not.

In seeing these patterns emerge, scientists developed several theories as to why COVID-19 might hurt both damaged hearts and healthy ones, according to a Live Science report.

In one scenario, by attacking the lungs directly, the virus might deplete the body's supply of oxygen to the point that the heart must work harder to pump oxygenated blood through the body. The virus might also attack the heart directly, as cardiac tissue contains angiotensin-converting enzyme 2 (ACE2) a molecule that the virus plugs into to infect cells. In some individuals, COVID-19 can also kickstart an overblown immune response known as a cytokine storm, wherein the body becomes severely inflamed and the heart could suffer damage as a result.

People who smoke cigarettes may be prone to severe COVID-19 infections, meaning they face a heightened risk of developing pneumonia, suffering organ damage and requiring breathing support. A study of more than 1,000 patients in China, published in the New England Journal of Medicine, illustrates this trend: 12.3% of current smokers included in the study were admitted to an ICU, were placed on a ventilator or died, as compared with 4.7% of nonsmokers.

Cigarette smoke might render the body vulnerable to the coronavirus in several ways, according to a recent Live Science report. At baseline, smokers may be vulnerable to catching viral infections because smoke exposure dampens the immune system over time, damages tissues of the respiratory tract and triggers chronic inflammation. Smoking is also associated with a multitude of medical conditions, such as emphysema and atherosclerosis, which could exacerbate the symptoms of COVID-19.

A recent study, posted March 31 to the preprint database bioRxiv, proposed a more speculative explanation as to why COVID-19 hits smokers harder. The preliminary research has not yet been peer-reviewed, but early interpretations of the data suggest that smoke exposure increases the number of ACE2 receptors in the lungs the receptor that SARS-CoV-2 plugs into to infect cells.

Many of the receptors appear on so-called goblet and club cells, which secrete a mucus-like fluid to protect respiratory tissues from pathogens, debris and toxins. It's well-established that these cells grow in number the longer a person smokes, but scientists don't know whether the subsequent boost in ACE2 receptors directly translates to worse COVID-19 symptoms. What's more, it's unknown whether high ACE2 levels are relatively unique to smokers, or common among people with chronic lung conditions.

Several early studies have suggested a link between obesity and more severe COVID-19 disease in people. One study, which analyzed a group of COVID-19 patients who were younger than the age of 60 in New York City, found that those who were obese were twice as likely as non-obese individuals to be hospitalized and were 1.8 times as likely to be admitted into critical care.

"This has important and practical implications" in a country like the U.S. where nearly 40% of adults are obese, the authors wrote in the study, which was accepted into the journal Clinical Infectious Diseases but not yet peer-reviewed or published. Similarly, another preliminary study that hasn't yet been peer-reviewed found that the two biggest risk factors for being hospitalized from the coronavirus are age and obesity. This study, published in medRxiv looked at data from thousands of COVID-19 patients in New York City, but studies from other cities around the world found similar results, as reported by The New York Times.

A preliminary study from Shenzhen, China, which also hasn't been peer-reviewed, found that obese COVID-19 patients were more than twice as likely to develop severe pneumonia as compared with patients who were normal weight, according to the report published as a preprint online in the journal The Lancet Infectious Diseases. Those who were overweight, but not obese, had an 86% higher risk of developing severe pneumonia than did people of "normal" weight, the authors reported. Another study, accepted into the journal Obesity and peer-reviewed, found that nearly half of 124 COVID-19 patients admitted to an intensive care unit in Lille, France, were obese.

It's not clear why obesity is linked to more hospitalizations and more severe COVID-19 disease, but there are several possibilities, the authors wrote in the study. Obesity is generally thought of as a risk factor for severe infection. For example, those who are obese had longer and more severe disease during the swine flu epidemic, the authors wrote. Obese patients might also have reduced lung capacity or increased inflammation in the body. A greater number of inflammatory molecules circulating in the body might cause harmful immune responses and lead to severe disease.

Blood type seems to be a predictor of how susceptible a person is to contracting SARS-CoV-2, though scientists haven't found a link between blood type per se and severity of disease.

Jiao Zhao, of The Southern University of Science and Technology, Shenzhen, and colleagues looked at blood types of 2,173 patients with COVID-19 in three hospitals in Wuhan, China, as well as blood types of more than 23,000 non-COVID-19 individuals in Wuhan and Shenzhen. They found that individuals with blood types in the A group (A-positive, A-negative and AB-positive, AB-negative) were at a higher risk of contracting the disease compared with non-A-group types. People with O blood types (O-negative and O-positive) had a lower risk of getting the infection compared with non-O blood types, the scientists wrote in the preprint database medRxiv on March 27; the study has yet to be reviewed by peers in the field.

In a more recent study of blood type and COVID-19, published online April 11 to medRxiv, scientists looked at 1,559 people tested for SARS-CoV-2 at New York Presbyterian hospital; of those, 682 tested positive. Individuals with A blood types (A-positive and A-negative) were 33% more likely to test positive than other blood types and both O-negative and O-positive blood types were less likely to test positive than other blood groups. (There's a 95% chance that the increase in risk ranges from 7% to 67% more likely.) Though only 68 individuals with an AB blood type were included, the results showed this group was also less likely than others to test positive for COVID-19.

The researchers considered associations between blood type and risk factors for COVID-19, including age, sex, whether a person was overweight, other underlying health conditions such as diabetes mellitus, hypertension, pulmonary diseases and cardiovascular diseases. Some of these factors are linked to blood type, they found, with a link between diabetes and B and A-negative blood types, between overweight status and O-positive blood groups, for instance, among others. When they accounted for these links, the researchers still found an association between blood type and COVID-19 susceptibility. When the researchers pooled their data with the research by Zhao and colleagues out of China, they found similar results as well as a significant drop in positive COVID-19 cases among blood type B individuals.

Why blood type might increase or decrease a person's risk of getting SARS-CoV-2 is not known. A person's blood type indicates what kind of certain antigens cover the surfaces of their blood cells; These antigens produce certain antibodies to help fight off a pathogen. Past research has suggested that at least in the SARS coronavirus (SARS-CoV), anti-A antibodies helped to inhibit the virus; that could be the same mechanism with SARS-CoV-2, helping blood group O individuals to keep out the virus, according to Zhao's team.

Many medical conditions can worsen the symptoms of COVID-19, but why do historically healthy people sometimes fall dangerously ill or die from the virus? Scientists suspect that certain genetic factors may leave some people especially susceptible to the disease, and many research groups aim to pinpoint exactly where those vulnerabilities lie in our genetic code.

In one scenario, the genes that instruct cells to build ACE2 receptors may differ between people who contract severe infections and those who hardly develop any symptoms at all, Science magazine reported. Alternatively, differences may lie in genes that help rally the immune system against invasive pathogens, according to a recent Live Science report.

For instance, a study published April 17 in the Journal of Virology suggests that specific combinations of human leukocyte antigen (HLA) genes, which train immune cells to recognize germs, may be protective against SARS-CoV-2, while other combinations leave the body open to attack. HLAs represent just one cog in our immune system machinery, though, so their relative influence over COVID-19 infection remains unclear. Additionally, the Journal of Virology study only used computer models to simulate HLA activity against the coronavirus; clinical and genetic data from COVID-19 patients would be needed to flesh out the role of HLAs in real-life immune responses.

Originally published on Live Science.

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Why COVID-19 kills some people and spares others. Here's what scientists are finding. - Livescience.com

Six weeks ago, with little fanfare, a network of geneticists launched an obscure but potentially game-changing initiative. Their aim: to learn why people with particular DNA profiles end up dying from the coronavirusor completely avoiding its effects. Ultimately, they want to devise ways for scientists to cook up new therapies that might alter how our nanosize genes operate as a way of reversing or accelerating the pathogens progress. Called the COVID-19 Host Genetics Initiative, the project now involves close to 700 scientists and researchers, worldwide, who are busily comparing DNA data from pandemic victims to literally millions of existing DNA profiles of millions of people.

To appreciate how our genes might be impacted by the onslaught of COVID-19, imagine this: that a tiny, invisible bug is hovering over the surface of a cell inside your bodysay a lung cell. You dont know it yet, but youve just been infected with SARS-Cov-2. Maybe it came from that jogger who whizzed past you on the sidewalk, or that tabletop you touched before rubbing your eyes. Whatever its source, there it is, circulating inside you: a fuzzy, sphere-shaped pathogen thats less than 1/1000 the width of a human hair. Prickly, with spikes on its outside, its searching for a place to plug into and enter your cell. Its a little like a key and a lock, where the key (the virus) wants to slip into the keyhole (a receptor on the cell) and then release a payload that will be up to no good.

Except that, in some people, the virus-key doesnt fit the lock and is blocked from entering the cell. In others, it slips right in, leading to illness and sometimes to rapid deterioration and even death. One potential differencesay geneticists who are working day and night to better understand how SARS-Cov-2 invades and attacks our cellsmight be because your DNA code differs from mine. Yours might inherently spurn the virus at the cellular level; mine might make me more susceptible.

So what determines who gets dangerously sick? We know that people who are older and have underlying diseases like diabetes and heart disease are at higher risk for having a bad response to COVID-19, explained Mark Daly, a 52-year-old geneticist and the director of the Institute for Molecular Medicine in Helsinki, Finland. Other factors include higher risk biases that involve ethnicity, class, vocation, geographic location, and the medical resources available at the time of treatment. And yet, according to Daly, this doesnt explain why relatively healthy people, including young people, are sometimes having severe and life-threatening reactions such as very high fevers, pneumonia, and difficulty with breathing that requires oxygen and sometimes a ventilator. Most likely this has something to do with differences in their genes.

Daly should know. With his Paul Reverelike ponytail, circular hippie glasses, and lean, determined face, hes a pioneer of modern genetics who was a key player during and after the Human Genome Project, the huge international effort in the 1990s and early 2000s that sequenced the first-ever human genome. And as the pandemic has been raging, Daly, a physicist, decided to help spearhead a remarkable hive-mind effort: the COVID-19 Host Genetics Initiative.

The project was announced on March 16 in a tweet posted by Dalys cohort Andrea Ganna: Goal: aggregate genetic and clinical information on individuals affected by COVID-19. The response was immediate. Within days, scientists from over 150 organizations in more than 30 countries on six continents agreed to join. Thats the ideal use of the hive mind: a conglomeration of big brains and, in this case, their disparate data sources, to solve one huge problem. Participants have come not only from Harvard and MIT (institutions with which Daly has ongoing affiliations) and the usual institutional suspects in North America, Europe, and the wealthier Asian countries, but also from the Qatar Genome Program, Vietnams SARS-Cov-2 Susceptibility Program, and CLHORAZbased in Burkina Faso.

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What Do Your Genetics Have to Do With Your Chances of Dying From Coronavirus? - Vanity Fair

Well come clean the pints and pub grub lifestyle often associated with the great British local hasnt dovetailed all that smoothly with the NHS since its launch on 5 July 1948, even if the community spirit that underpins arguably this countrys greatest piece of modern policy-making is broadly shared by pubs.

Born from a long-standing ideal that healthcare should be readily available based on clinical need rather than ability to pay, health minister Aneurin Bevan unveiled the nascent NHS at Park Hospital in Manchester after the passage of the National Health Service Act in 1946.

Despite extensive cutbacks in recent years, today, total health spending in England stands at around 130bn more than the annual GDP of Ukraine or Morocco with the NHS employing more people across the UK than live in Birmingham. According to a report by the Department of Health in December 2005, the NHS deals with more than 1m patients every 36 hours.

The Ram Inn, in Brundall, Norfolk, has raised close to 1,000 by asking locals to leave their rainbow images for the pub to display in return for a donation to theNorfolk & Norwich Hospitals Charity.

The operators of the Garden House in Norwich have pledged to use 2,000 worth of tech vouchers received as winners of BT Sports latest Manager of the Month prize to treat staff at local NHS services.

East Anglian pub operator Chestnut has teamed up with Food4Heroes to provide tens of thousands of free meals to the regions front-line NHS staff during the Covid-19 emergency.

Camden Town Brewery has produced a Heroes version of its flagship Hells lager which will be sold online and handed out to 20,000 NHS hospital workers - with proceeds from sales going to NHS charities.

Rendezvous & Royal Oak in Weymouth, Dorset, has raised 13,200 for Dorset County Hospital after live streaming 20-act music festival Quayfest.

Cornish brewer and pub operator St Austell Brewery has joined forces with takeaway and delivery service Pub Grub to deliver 800 bottles of soft drink to frontline staff at Royal Cornwall Hospital.

Publican Sylvia Ferron of the Foaming Tankard in Birmingham has returned to full-time work on the NHS front line during the Covid-19 emergency just months after entering the on-trade.

SallyAbof Michelin star-holding Estrella Damm Top 50 Gastropub frontrunner Harwood arms in London has cooked 100 meals per day for NHS staff through charity Hospitality for Heroes

Furloughed Stonegate Pub Company general manager, Cee-Jay Williams of the Junction Tap in Woking, Surrey, is using a 3D printer to help the NHS tackle a shortfall of 80,000 plastic visor clips.

Publican Eduardo Dantas of Tia Maria Bar & Restaurant in Vauxhall, south London, was reduced to tears by Staff at Londons Kings College Hospital after they surprised him with a round of applause during one of his daily deliveries of 60 free meals.

Lisa Staples of the Crown Inn, Gayton, Norfolk, has set up a website Free NHS Rooms for publicans to list their rooms so that NHS workers can find living quarters near hospitals.

The onset of the Covid-19 pandemic which has seen NHS staff treat close to 200,000 confirmed cases across the UK thus far has led to an unprecedented wave of gratitude from the public, with pubs more than playing their part.

Though the on-trade has regularly shown its support for the NHS over the years notable mentions include 2020 Great British Pub Awards-winning Best Local, the Chandos Arms in north London, throwing a street party for the NHSs 70th anniversary in 2018 and Beavertown Brewery offering free beer to blood donors the current outpouring is arguably the greatest show of support pubs have shown this countrys health service.

From Rendezvous & Royal Oak in Weymouth, Dorset, raising 13,200 for Dorset County Hospital by live streaming a 20-act music festival, for example, to pubs delivering tens of thousands of free meals and even joining efforts to make personal protective equipment, the on-trade has branched into some surprising areas to help the NHS through the ongoing emergency.

Whats more, while turning blue is medically speaking a very bad sign, a number of Britains pubs have chosen to do so in tribute to front-line workers battling Covid-19 though it wont obviously fall on the NHS to resuscitate them when operators are cleared to reopen.

The honour of having your face painted onto the front of a pub is usually one reserved for lords, ladies or royalty, but such is Britains rich medical history that a number of its nurses and scientists have had their names or tributes emblazoned above the door of a one of the nations many watering holes.

While London pubs the Sir Alexander Fleming in Paddington named after the Scottish inventor credited with the discovery of penicillin and the Florence Nightingale in Waterloo have sadly shut up shop since the turn of the Millennium, the NHSs chief architect, Bevan, has been immortalised by beverage behemoth JD Wetherspoon, which named Cardiff pub the Aneurin Bevan in his honour.

Other on-trade tributes to medicine include the Old Doctor Butlers Head in Masons Avenue, London, which was named after physician William Butler, a doctor at the court of James I who is credited with inventing the popular 17th century medicinal drink Dr Butlers purging ale.

Whats more, the namesake of Grade II-listed pub the William Harvey in Ashford, Kent, discovered the circulation of blood and once lived in what is now the pub. Though the local hospital is also named after Harvey, the pub is said to have got there first.

In a less direct tribute, the Air Balloon pub in Gloucestershire is named in tribute to physician Edward Jenner who popularised vaccination with his work to tackle smallpox. Jenner, who spent a fair amount of his time away from his work enthusing over hydrogen balloons, took to the skies from Berkeley Castle in Gloucestershire in September 1784 before landing more than 20 miles away in Birdlip where the local pub is now named in tribute to his flight.

Its not an understatement to suggest that James Watson and Francis Crick discovering the structure of DNA and how it carries genetic information in 1953 laid the groundwork for almost 75 years of game-changing medical discoveries and treatment.

Yet while images of DNAs double helix structure are among the most recognisable and iconic in science, what isnt as commonplace is the fact the pairs discovery was first announced in Cambridge pub, the Eagle.

The Grade II-listed venue was the local watering hole for scientists working at the University of Cambridges Cavendish Laboratory such as Watson and Crick, who would claim the Nobel Prize in Physiology or Medicine in 1962 for their discovery.

The pairs work to unravel DNAs structure essentially clarified how genes work. By uncovering the molecular properties of genes, Watson and Cricks discovery meant that scientists could understand how they could be damaged, why mutations could cause harmful diseases and allowed experts to work out ways to fix them. For example, in April 2020, Rhys Evans became the first child in Britain to be cured of an inherited disorder as a result of gene therapy stemming from Watson and Cricks work.

While MPs voted to ban smoking in enclosed public spaces including pubs as of summer 2007, more than 30 years prior a publican in Yorkshire created Britains first licensed smokeless zone.

According to the Pub History Society, Essex-born publican John Showers declaring the New Inn in Appletreewick near Skipton, in North Yorkshire, the worlds first no smoking inn in the early 1970s generated global media attention and even a congratulatory letter from then health minister George Godber.

While the publicans initial objection to customers smoking on his premises focused on the amount of damage it caused his pubs carpets, floors and furniture on top of nicotine staining his walls and ceilings and the fire risk the death of a close friend from lung cancer saw Showers shift his ire from building damage to disease.

Showerss then sensational ban featured on television, radio and newspapers both at home and abroad, with the publican advertising the New Inn as Englands First Fresh Air Inn.

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NHS: what role have pubs played in medical breakthroughs? - MorningAdvertiser.co.uk

CAMBRIDGE, Mass. and NEW YORK, May 06, 2020 (GLOBE NEWSWIRE) -- Black Diamond Therapeutics, Inc. (Nasdaq: BDTX), a precision oncology medicine company pioneering the discovery and development of small molecule, tumor-agnostic therapies, today announced that its President and Chief Executive Officer, David M. Epstein, Ph.D., will present an update about the Companys business at the Bank of America Global Research Health Care Conference 2020. The presentation will take place on Tuesday, May 12, 2020, at 4:20 PM ET.

About Black DiamondBlack Diamond Therapeutics is a precision oncology medicine company pioneering the discovery of small molecule, tumor-agnostic therapies. Black Diamond targets undrugged mutations in patients with genetically defined cancers. Black Diamond is built upon a deep understanding of cancer genetics, protein structure and function, and medicinal chemistry. The Companys proprietary technology platform, Mutation-Allostery-Pharmacology, or MAP, platform, is designed to allow Black Diamond to analyze population-level genetic sequencing data to identify oncogenic mutations that promote cancer across tumor types, group these mutations into families, and develop a single small molecule therapy in a tumor-agnostic manner that targets a specific family of mutations. Black Diamond was founded by David M. Epstein, Ph.D., and Elizabeth Buck, Ph.D., and, beginning in 2017, together with Versant Ventures, began building the MAP platform and chemistry discovery engine. For more information, please visit http://www.blackdiamondtherapeutics.com.

Contacts:

For Investors:Natalie Wildenradtinvestors@bdtherapeutics.com

For Media:Kathy Vincent(310) 403-8951media@bdtherapeutics.com

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Black Diamond Therapeutics to Present at the Bank of America Global Research Health Care Conference 2020 - GlobeNewswire