StemCell Therapy

Maggie L. Shaw

Evolution. Disruption. Innovation. Telemedicine. A virtual exchange of information. Healthcare has lagged behind in these aspects, but its necessary to transcend time and distance, according to Susan Dentzer, senior policy fellow at the Duke-Margolis Center for Health Policy.

Dentzer spoke passionately about elevating the quality of cancer care delivery by changing the system and asking these questions:

Her biggest question of all: for healthcare that mainly involves exchanges of information, not the laying of hands, why isnt more of it done virtually today? Especially when study results show high levels of patient satisfaction, higher quality of life, less depression, and less stress with telehealth and tele-oncology.

According to Dentzer, its time to think outside the box, incorporating data and technology to elevate cancer care delivery. And she provided a telling question from her friend A. Mark Fendrick, MD, co-editor in chief of The American Journal of Managed Care, that illustrates how despite advancements in cancer care, obstacles to optimizing its delivery remain: Why do we have Star Wars medicine on a Flintstones delivery platform. Shouldnt we at least advance to The Jetsons?

What many dont realize is that telemedicine, at least the idea of it, has been around for decades. Since the late 1960s. During her presentation, Dentzer told of how Kenneth D. Bird, MD, a former internist and pulmonary specialist at Massachusetts General Hospital, developed the first telemedicine system between Logan Airport and Mass General in 1968, with a second link in 1970. However, the system was abandoned in the 1970s.

A common theme that ran throughout her presentation was that its time for healthcare and cancer care to move outside the conventional walls of practices. To not be afraid of innovation. To move closer to patients where they are in their homes and communities. To elevate the quality of cancer care to such a level that it minimizes the amount of time people have to be in the hospital. But doing so first means addressing several important challenges:

So, what can we do? What are some examples of where opportunities to innovate in medicine lie?

Tele-oncology. This has already been shown to improve access to care and decrease costs, Dentzer noted. And with oral cancer drugs and immunotherapies being delivered on an outpatient basis in some instance, tele-oncology can help in this space by providing remote supervision of chemotherapy, thereby preventing unnecessary trips to the hospital or doctors office.

For example, Boston Universitys Biomedical Optical Technologies Lab (BOTLab) has developed a wearable probe, now in clinical trials, that uses near-infrared spectroscopy to measure hemoglobin, metabolism, water, and fat levels in tumors. The University of Arizona created its telemedicine program in 1996 and introduced tele-mammography between rural locations and the university in the early 2000s; womens images from a remote location are analyzed within 45 minutes at the university. Lastly, in 1995, Kansas University Medical Center instituted its first tele-oncology program with a multidisciplinary team that is 250 miles from a rural medical center, which itself has nurses.

Tele-genetics. Abramson Cancer Center in Philadelphia, Pennsylvania, offers genetic counseling in real-time, which can be accessed over the phone or through video conference. As this is a service that is not easy to always access, especially when patients are hundreds of miles away, making the counseling more portable can only serve to increase access to care.

Symptom management. Because not all patients need to be seen in the clinic, Seattle Cancer Care Alliance provides a web portal through which they can enter symptoms, and this will send an alert to their care team. And that alert leads to a phone call.

Provider education in immuno-oncology. This is especially needed foremergency medicine physicians. Telemedicine can increase engagement and communication between experienced oncologists and emergency medicine physicians who may have limited knowledge of immunotherapies and their adverse effects. It also provides opportunities for online learning and 24/7 access to critical care information.

Access to clinical trials. Denzler pointed out that almost 8 of 10 clinical trials can be delayed, even closed, because recruitment takes too long. Telemedicine can remedy this by expediting patients access to clinical trials through automated platforms.

I would argue that the status quo is not an option. You need to take advantage of these capabilities really fast, Dentzer noted.

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Thinking Outside the Box to Elevate, Increase Access to Cancer Care - AJMC.com Managed Markets Network

Copy Cat was born Dec. 22, 2001.

Texas A&M College of Veterinary Medicine & Biological Sciences

CC, the worlds first cloned cat, has passed away at the age of 18 after being diagnosed with kidney failure.

CC, short for Copy Cat, passed away on March 3 in College Station, the same place where her life began as a result of groundbreaking cloning work done by Texas A&M University College of Veterinary Medicine & Biomedical Sciences (CVM) researchers.

CC was born Dec. 22, 2001, and was adopted by Dr. Duane Kraemer, a senior professor in the colleges Reproduction Sciences Laboratory, and his wife, Shirley, six months after her birth.

We in the CVM are saddened by the passing of CC. As the first cloned cat, CC advanced science by helping all in the scientific community understand that cloning can be effective in producing a healthy animal, said Dr. Eleanor M. Green, the Carl B. King dean of veterinary medicine at Texas A&M.

While she lived a long, normal, and happy life, CC was extraordinary in what she represented to the Kraemers, the CVM, and science as a whole, Green said. The entire CVM community mourns her loss, as all at Texas A&M cared deeply about her as a member of the Aggie family, and especially for the Kraemers, for whom CC was a beloved pet for 18 years.

CCs story began with Dr. Mark Westhusin, a CVM professor and the principal investigator of the Missyplicity Project, a $3.7 million effort to clone a mixed-breed dog named Missy that was owned by John Sperling, founder of the University of Phoenix.

When the news of the project spread, people around the country became interested in saving pets tissues that could possibly be used for cloning in the future. This demand resulted in the establishment of Genetic Savings and Clone (GSC), Inc., led by Sperlings colleagues Lou Hawthorne and Dr. Charles Long.

While GSC became a bank for these tissues, Westhusin and his team at Texas A&M began to explore the cloning of other pet species, specifically cats.

CC was produced using nuclear transfer of DNA from cells that were derived from a female domestic shorthair named Rainbow.

Copy Cat was adopted at six months old by Dr. Duane Kraemer, a senior professor in Reproduction Sciences Laboratory, and his wife, Shirley, six months after her birth.

Texas A&M College of Veterinary Medicine & Biological Sciences

Once it was clear the nuclear transfer was successful, Kraemer and other scientists transferred the embryos into a surrogate mother, who gave birth to a healthy kitten about two months later.

Though the cats were identical on a genetic level, developmental factors led them to have slightly different coat patterns and color distributions.

CCs passing makes me reflect on my own life as much as hers, Westhusin said. Cloning now is becoming so common, but it was incredible when it was beginning. Our work with CC was an important seed to plant to keep the science and the ideas and imagination moving forward.

CC also became one of the first cloned cats to become a mother. When CC was five years old, she gave birth to three kittens that lived with her for the rest of her life in a custom, two-story cat house in the Kraemers backyard.

CC was the biggest story out of A&M ever and still is, as far as international reach is concerned, Kraemer said. Every paper and magazine had pictures of her in it. She was one of the biggest accomplishments of my career.

While CC represented a great advancement in genetic research, to the Kraemers, she was also a beloved pet. She will be missed by them especially, but also by those at the CVM, Texas A&M and beyond who have followed her story since birth.

CC was a great cat and a real joy, Kraemer said. She was part of the family and very special to us. We will miss her every day.

Throughout her lifetime, CC regularly made news for her birth, pregnancy and each birthday. She proved to the world that cloned animals can live the same full, healthy lives as non-cloned animals, including being able to produce healthy offspring.

Before CC, no pet had ever been successfully cloned with 100 percent genetic identity.

The research that led to CCs birth kickstarted a global pet cloning industry led by ViaGen Pets, which today clones cats for $35,000 and dogs for $50,000.

Though CC was the first successfully cloned pet, Texas A&M has gone on to clone more species than any other institution in the world, including horses, pigs, goats, cattle and deer.

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World's First Cloned Cat Dies - Texas A&M University Today

(Photo : Piqsels)A recent study suggests that laziness can be blamed on one's genes.

Do you ever wonder why you find it hard to exercise everyday, while others don't? It must be your genes. A recent study found that a certain genetic mutation reduces one's ability to exercise.

For quite some time now, it has been thought that some people consider exercising much easier than others. While some find joy in jogging off to the gym, others find it terrifying to even do anything that may possibly lead to shortness of breath or perspiration. Now this is no longer just some random situation. In fact, scientists have already discovered the link between one's ability to efficiently exercise and certain genes.

The study, published in the New England Journal of Medicine, reported that a genetic mutation in some individuals are making it more difficult for them to exercise. The mutation can impact the "cellular oxygen sensing" that is linked to ahuman's ability to effectively work out.

The research team also found that those with the gene had reduced growth rate, constantly low blood sugar, limited capacity for exercise and an extremely high red blood cell number. With these findings, it can then be said that laziness is indeed, hereditary.

ALSO READ:Wearable Medical Devices: The Next Most Popular Gadgets for Health and Fitness Enthusiasts

(Photo : Photo by bruce mars on Unsplash)

In an attempt to figure out why individuals with a limited capacity to exercise behave the way they do, the team of researchers thoroughly evaluated one case study.

After several tests, including genetic analysis, the scientists found that themutated genebeing examined was thevon Hippel-Lindau, or the VHL gene. It is a type of gene playing a vital role in one's genetic makeup, mainly contributing to the survival of human cells when the ability to take in oxygen is reduced.

Additionally, the researchers also found that the VHL gene was damaged in some individuals struggling to exercise. The main reason for this is that this gene is associated with the mitochondria. When the mitochondria fail to fire on all cylinders, which is the usual case in those with mutated VHL, exercising is certainly quite a hard thing to do.

Dr. Federico Formenti, one of the study's lead authors said that they find this discovery of mutation, as well as the linked phenotype, exciting as it allows for a deeper understanding of human physiology, particularly when it comes how the human body senses and responds to the reduced availability of the oxygen.

The researchers experimented on mice, which were bred to have a mutation ingenesclose to that of humans in order to interrupt its function. In relation to this, researchers characterized the mice in terms of obesity, physical activity, as well as the cellular biology to understand how this gene was associated with obesity.

The saidstudyshowed the levels of physical activity, body weight and how much the mice ate. The study also showed othercellular level measurements that are obesity-related, such as the expression of the protein on the brain cells' surface.

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Too Lazy to Exercise? Is It Genetic? - Science Times

Can people who recover from a bout with the new coronavirus become infected again and again?

The Japanese government reported this week that a woman in Osaka had tested positive for the coronavirus for a second time, weeks after recovering from the infection and being discharged from a hospital.

Combined with reports from China of similar cases, the case in Japan has raised some uncomfortable questions. Reinfections are common among people who have recovered from coronaviruses that cause the common cold.

But those pathogens are very different from the new coronavirus, and experts said its unlikely that these are cases of people getting infected a second time.

Im not saying that reinfection cant occur, will never occur, but in that short time its unlikely, said Florian Krammer, a virologist at the Icahn School of Medicine at Mount Sinai in New York.

Even the mildest of infections should leave at least short-term immunity against the virus in the recovering patient, he said.

More likely, the reinfected patients still harbored low levels of the virus when they were discharged from the hospital, and testing failed to pick it up.

Even if there were occasional cases of reinfection, they do not seem to be occurring in numbers large enough to be a priority at this point in the outbreak.

Updated Feb. 26, 2020

A report published Thursday in JAMA supports the idea that people may test positive for the virus long after they seem to have recovered.

In four medical professionals exposed to the virus in Wuhan, China, the epicenter of the epidemic, a test that detects the viral genetic material remained positive five to 13 days after they were asymptomatic.

This does not necessarily mean that they were still able to infect others, however.

The PCR diagnostic test is highly sensitive and can amplify genetic material from even a single viral molecule. As such, the test could merely be picking up fragments of the virus.

PCR tests may detect remnants of the measles virus months after people who had the disease stop shedding infectious virus, Dr. Krammer said.

The other possibility is that the negative test was done poorly, or the samples were stored at a temperature at which the virus deteriorates. The throat swab may also simply miss the virus that is hiding elsewhere in the body.

A virus test is positive if the virus was there on the swab in sufficient quantities at the time you swabbed the person, said Marc Lipsitch, an epidemiologist at the Harvard T.H. Chan School of Public Health.

A negative test is not a definitive that there is no more virus in that person.

Dr. Lipsitch offered an analogy: a jam jar with mold on top. Scraping off the surface might give the impression that the jam is now mold-free, but in fact the jar may still contain mold that continues to grow.

The Japanese woman initially had mild symptoms of coronavirus infection and tested positive in late January. She was released from the hospital on Feb. 1. She tested positive again on Wednesday after coming in for a sore throat and chest pain.

That certainly sounds like it could be an actual resurgence of the virus in infectious form, Dr. Lipsitch said. But, he added, Single anecdotes are really hard to interpret.

One worrisome possibility is that the coronavirus follows what is known as a biphasic infection: the virus persists and causes a different set of symptoms than observed in the initial bout.

In patients infected with Ebola, the virus may persist for months in the testes or eyes even after recovery and can infect others and keep the epidemic going.

The recovered person, too, can develop other symptoms, including insomnia and neurological problems, said Angela Rasmussen, a virologist at Columbia University.

We dont know if thats the case with this coronavirus, Dr. Rasmussen said. We dont know anything about this virus.

Coronaviruses are on the whole poorly understood, she said. Before the SARS epidemic, coronaviruses were not known to cause serious illnesses.

Some scientists have said that people infected with the new coronavirus produce antibodies that will protect them in the future. And a single-patient report suggests that the immunity may last at least seven days.

But this finding is neither surprising nor reassuring, said Dr. Stanley Perlman, a coronavirus expert at the University of Iowa. The issue is whether youll see it in seven months or in a year, he said. Thats what you care about.

The new coronavirus closely resembles the ones that cause SARS and, to a lesser extent, MERS. There are no reports of reinfections with the SARS virus, Dr. Perlman said, and only one that he has heard of in a patient recovering from MERS.

Dr. Perlmans research with MERS has shown that the strength of the immune response depends on the severity of the infection, but that even in those with severe disease which should produce the strongest immune responses the immunity seemed to wane within a year.

How long immunity lasts will also be a key question to resolve when designing a vaccine for the new coronavirus, particularly if the virus becomes a seasonal threat like influenza.

What is the nature of immunity to this virus after infection? Dr. Lipsitch said. Thats a research question thats urgent.

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They Recovered From the Coronavirus. Were They Infected Again? - The New York Times

I love working with people, says Allison Werner-Lin of the School of Social Policy & Practice (SP2). Werner-Lins office overlooking Locust Walk is homey and lamp-lit, with student gifts sharing space with scholarly tomes. This is just one of her workspaces, however. Recently returned from sabbatical, Werner-Lin has been working with the National Cancer Institute (NCI), as well as out of her home in upstate New York, which doubles as a private practice for families seeking bereavement therapy. The divide between academia and clinical practice suits her. I feel like I have one foot in each world and in a very positive way, Werner-Lin says.

Werner-Lin has extensive clinical and research experience and uses both to inform her work, which centers on heritable cancers. She began her academic work studying young adults with mutations in genes associated with breast and ovarian cancer, BRCA1 and BRCA2. Recently, her work with the NCI has branched out to the study of Li-Fraumeni syndrome (LFS). Patients with LFS have a mutation in a tumor-suppression gene, resulting in a high incidence of cancer starting in childhood, and 50% of LFS patients develop cancer by age 40. Both patient populations make life-altering decisions based upon their family histories and medical diagnoses.

Dr. Werner-Lins groundbreaking research merges science with social work at the intersection of qualitative health research, the structure and evolution of genes, hereditary cancer, and how it impacts individuals and families at various stages of life, says SP2 Dean Sara Sally Bachman. Each day, Allison is pushing the frontiers of genomic study and oncological social work while also mentoring other social change agents who will undoubtedly make a difference locally, nationally, and internationally.

For more than a decade, Werner-Lin has worked in the Clinical Genetics Branch of the Division of Cancer Epidemiology and Genetics of the NCI organizing the human side of research. Patients come annually to the NCI to receive full-body MRI cancer screenings and participate in data collection that covers everything from cancer history to family communication to risk management. Werner-Lin mentors an interdisciplinary team of predoctoral and postdoctoral fellows to explore how these families understand and cope with genetic information. Her work is used to train providers in delivering holistic medical and psychological care.

We talk with families about their experiences communicating cancer-risk information with loved ones, making reproductive decisions, and managing the endless cycle of screening, Werner-Lin says. She has seen patterns in how families share cancer-risk information and seek support, noting that information travels based on relationship patterns and emotional closeness, not necessarily degree of risk.

People with LFS have limited options for cancer prevention, and expectations for a cancer diagnosis and early death are common. Were seeing a lot of physical loss, where amputations and other changes in physical function are common consequences of treatment.

Many of the people Werner-Lin speaks with are looking at different pathways to parenthood or are choosing not to have children at all, she says. Grief becomes a chronic part of their lives, and those kinds of sustained of losses can connect individuals in and across families.

Former SP2 graduate student Catherine Wilsnack is a Cancer Research Training Award Fellow at the NCI, doing qualitative research as part of Werner-Lins team. Wilsnack first met Werner-Lin while in her second year at SP2 and calls the encounter transformative. Werner-Lin is a phenomenal mentor in every way, says Wilsnack, who earned her masters in social work (MSW) in 2019. She always goes above and beyond for her students. I would not be where I am today if it were not for her and her guidance, so I just feel extremely lucky.

Now in midcareer, Werner-Lin is taking the time to mentor younger generations. There are so many opportunities to focus on other peoples career development without such a bounded focus on my own professional needs, she says, crediting her own mentors with the ability to achieve professional success.

At Penn, Werner-Lin is involved in the Cancer Moonshot initiative led by Katherine Nathanson and Steve Joffe, an effort designed to accelerate cancer research aimed at prevention, detection, and treatment. Werner-Lins aspect of the project, based at the Abramson Cancer Center at Penn Medicine, involves issues surrounding genetic testing in people aged 18 through 40. Susan Domchek, executive director of the Basser Center for BRCA, says, Allisons work in terms of the psychosocial implications of having a BRCA mutationhow an individual can come to terms with that and how that information gets disseminated between familieshas been extremely helpful. She has a deep expertise on helping families navigate these situations.

Approximately 1 in 400 people carry mutated breast cancer genes, though mutations are more common in certain groups of people. The gene mutations are passed in an autosomal dominant pattern, meaning each parent with a mutation has a 50% chance of passing it on. Children of a BRCA-positive parent can pursue genetic testing to learn if they carry the mutation, adding pressure to family planning.

Werner-Lin was one of these children. Her mother has a BRCA1 mutation. She recovered from colon cancer when Werner-Lin was in college and is currently in remission from a rare ovarian cancer. When I was 23 and was thinking about having kids, I couldnt figure out how to do it, Werner-Lin says. I started talking to people, talking to other women, and that became my dissertation.

This curiosity and compassion led Werner-Lin to operate a private therapy practice out of her home, where she exclusively sees children and young adults with a deceased parent. People often dont see how therapy is connected to the genetics part of my work, but for me they are inseparable, Werner-Lin says. In my cancer work, parents often die young, leaving small children. Frequently, the children of cancer patients conflate their parents lives with their own, not seeing options, degrees of freedom, or technological innovation.

Working together with an MSW student, Werner-Lin does whole family-therapy, from diagnosis to end-of-life, through the grieving process. She helps to facilitate goodbyes, talks about legacy building, and makes the concept of death more concrete for young people.

The language adults use to talk about death is often confusing and shrouded in existential concepts, Werner-Lin says, citing references to angels or going to a better place. Young kids dont necessarily understand time or geography, she says. If were in New York, and Mommy went to the other side, is that a better place?

Instead, she says, we talk about the brain being a light switch, and once you turn it off you cant turn it on again. We talk about how the heart stops beating and the eyes stop seeing. These practical realities are important, Werner-Lin says. Kids need to understand the way the world is predictable, especially when people they love and need can fall off the earth at any moment.

Now back on campus, Werner-Lin is focusing on teaching and engaging with her graduate students. Acting in service to her patients, her students, and her colleagues is a core part of Werner-Lins brand of academia. If you tell her that you want to do something, Wilsnack says, she will go out of her way to help.

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Working on 'the human side' of heritable cancers - Penn: Office of University Communications

Texas A&M veterinary student Marshal Covin.

Texas A&M College of Veterinary Medicine & Biomedical Sciences

Marshal Covin, a second-year veterinary student at theTexas A&M College of Veterinary Medicine & Biomedical Sciences (CVM), never expected a simple howdy to lead to countless opportunities for advancing his veterinary career.

But after introducing himself and striking up a conversation with an unfamiliar staff member who turned out to be veterinary technician Chanel Reinertsen, Covin was encouraged to apply for jobs at the CVM and was soon employed at the Gastrointestinal Laboratory (GI Lab)as a junior biomedical sciences major.

For about a year or so, I was a student worker there helping with service, Covin said. Veterinary clinics from around the world send fecal, serum, and other samples to the GI Lab, and Id help them process it, put it where its supposed to be, answer phones, and things like that.

Soon,Dr. Jorg Steiner, GI Lab director and distinguished professor, and Dr. Mark Morris. chair in small animal gastroenterology and nutrition, noticed Covins potential and requested his help on a research project. They began to develop a real-time polymerase chain reaction test to detect an especially elusive liver fluke called O. viverrini, a zoonotic parasite that can cause serious illness in animals and people.

We extracted DNA from adult specimens ofO. viverriniand chose a primer to target the gene we wanted, but we were unsuccessful in getting sufficient amplification of the DNA in our test, Covin said. Thus, more work is needed on the project.

After that project was put on hold, Covin was moved to the research sector of the GI Lab and given his next project, for which he used analytical validation to prove that two new protein tests were as effective as the older version that took a far greater amount of time to run. These new tests detect C-reactive protein in dogs, a common marker for inflammation from various causes, including pancreatitis, parvovirus infection and surgical trauma.

These projects may help improve patient care for any clinic or lab that is looking to use either of these two tests to measure canine C-reactive protein, Covin said. I got two abstracts out of it, which is really awesome. I was fortunate enough to go to Seattle and present the first one at the Annual Forum of the American College of Veterinary Internal Medicine, and then Dr. Jonathan Lidbury presented the second at the European College of Veterinary Internal Medicine Congress in Rotterdam, the Netherlands, in Europe.

Covins current project with Steiner involves studying blood serum to develop a new medication for Wilsons Disease, a genetic disorder in people and dogs.

Its a copper-storage disease wherein people cant excrete copper, so their liver ends up failing, Covin said. The current medication for it takes a year to work. This new one that were trying to work on takes potentially a week.

Though Covin and Steiner have only worked on a few projects together, Covin said it has been fantastic having the opportunity to work in the GI Lab with CVM faculty members who enjoy mentoring students.

I think were really fortunate here, because we have such wonderful faculty who are willing to take us under their wings, he said. Dr. Steiner has helped me in so many ways.

Covin even had the opportunity to travel to Germany this summer with Steiner and two other CVM veterinary students. There, they studied pigs in an effort to develop a new pancreatitis treatment for humans.

Besides the world-class mentorship I get from Dr. Steiner and Dr. Lidbury, I also get a ton of help from other GI Lab staff, Covin said. Our technicians, Ph.D. students, and supervisors are always eager to lend a helping hand, which is one of the things I love the most about the GI Lab.

We definitely have a team-player mentality, he said. I can confidently say that none of my research would have been possible without their support and guidance.

With three years left at the CVM, Covin has plenty of time to work on many more research projects with GI Lab faculty and staff members. As for now, he finds his past and present research projects have been an interesting part of his time at the CVM.

Theyre all really cool, he said. I cant even pick a favorite. Each one has its own unique challenges.

Even though Covin doesnt plan to go into research after graduation, his experiences in the GI Lab will be beneficial when he is working as a mixed-practice veterinarian.

As a general practitioner, having a background in research is really helpful because you can help enroll clients in clinical trials and keep up to date with the latest and greatest innovations, Covin said. But, at some point in the future, I might absolutely go back to academics or research.

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Learning In The Lab - Texas A&M University

Clearly, a lot can happen in a decadebut innovation has to start somewhere. Based on whats breaking through now, here are some trends that have the potential to shape the 2020s.

The 2010s saw18 statesapprove the use of marijuana for medical purposes, bringingthe total to 33 states. In the 2020s, research into the potential medicinal uses of psychedelics could increase dramatically.

In another recent example, one researcher found that MDMA, or ecstasy, can make thecharacteristically shy octopus act friendlier. Though cephalopod brains are more similar to snails than to humans, scientists gleaned insights about how neurons and neurotransmitters behave on the drug that could inform future studies in humans. Other researchers doing experiments with mice hope MDMA ability to manipulate oxytocin could benefit people suffering PTSD.

At the University of California, Berkeley, scientists have developedcell phone appsthat can spot pathogens in biologic samples. The World Health Organization hasincreased fundingto initiatives working to scale up vaccine production in disease-afflicted countries.Artificial intelligenceis also starting to make a big splash in the infectious disease arena as computer scientists deploy the technology to predictand hopefully temperoutbreaks that originate in animals.

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Trends that will shape the 2020s: Psychedelics as medicine, diagnostic cell phone apps and AI prediction of disease outbreaks - Genetic Literacy...

In the second episode of Medicine made for you, a series from The Anthill podcast that takes a deep dive into the future of healthcare, were looking at the food we eat and how dietary advice could soon get a lot more personalised.

We start with muffins. Our producer Gemma Ware tells the story of a two-week nutritional study run by Kings College London that she took part in with her identical twin sister, aimed at trying to better understand which factors influence how we react to particular foods.

A core part of the study, called PREDICT, involves eating muffins, prepared by the research team with different levels of fat, sugar and fibre, and doing multiple blood tests afterwards to measure the reaction.

Tim Spector, professor of genetic epidemiology at Kings College London, and who is leading the study, explains:

Up to recently, say, the last ten years, weve been thinking that the difference between people and how they respond to food is primarily down to their genes. And this has led some people to have a rather fatalistic view of dieting and health and everything else and say, well, Id blame my parents.

Spector explains that through the researchers ongoing analysis of more than 2 million data points from the PREDICT study which includes data from sets of identical twins who share 100% of the same DNA scientists are now able to separate how many of the differences between peoples bodily responses to certain foods are down to their genes. And everybody reacts differently, even identical twins.

When it comes to a persons reaction to sugar, for example, the researchers found that about 30% could be explained by genes, but for a persons reaction to fat it was only around 5%.

The more we find out about the human body the more complex it is. And its definitely not all explained by genes and its definitely not all explained by microbes. And were finding other things we didnt think were important do have a role.

Now the results are available to participants in a new app, which gives personalised recommendations on how healthy certain foods or meals are for your body, based on the study results. We put it to the test.

Part of the analysis is based on the diversity of a persons gut microbiome, and the influence this has on metabolising the food they eat. To find out more about the importance of these gut microbes we visited the (pretty smelly) lab of Glenn Gibson, professor of food microbiology at the University of Reading, to see the models of the gut his team have created.

Gibson says hes not convinced that well ever get to a point where its possible to personalise dietary advice based on a persons individual microbiome:

Because it would suggest that every single person has a rather different diet to propel their gut microbiota in terms of their own health. And I dont think that is necessary. We kind of know which microbes in the gut are positive for health and which ones are negative. And so I dont think that individually, there are going to be massive differences in those bugs.

Gibson explains that he thinks the factors that influence the health of the gut microbiome are more environmental than genetic.

When it comes to genes, theres still a lot researchers dont know for certain about the way our genes and diets interact, and this means that personalising dietary advice based on someones DNA is so far, quite limited.

But even if people do have more personalised dietary advice available at their fingertips in the future, will they use it? Julie Lovegrove, Hugh Sinclair chair in human nutrition at the University of Reading, explains the results of a study, called Food4Me, that looked at how people responded to different types of personalised advice. Some people in the study received advice based simply on their diet, some based on their phenotype risk, such as whether they have risk of high cholestoral or diabetes, and some based on their genes.

While Lovegrove says that the overall personalisation did have a beneficial effect on how much red meat or saturated fats people ate the type of personalisation didnt have much impact.

I think we have to understand with our colleagues in psychology, for example, what motivates people to change. And I think we are all motivated by different things. And I think we also must frame it in a way that people can not only take on board, but understand the importance of that.

In our third episode of Medicine made for you, out on March 3, well look at how choices about treatment could become more personalised, including the growth of social prescribing. You can listen here to part 1, focusing on genes, clinical trials and precision medicine.

The music in this episode is Is That You or Are You You? by Chris Zabriskie and Hallon by Christian Bjoerklund. Medicine made for you is produced and reported by Holly Squire and Gemma Ware, and hosted by Annabel Bligh for The Anthill podcast. A big thanks to City, University of London, for letting us use their studios.

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How personal will nutritional advice become in the future? Medicine made for you part 2 - The Conversation UK

On stage at the Miss America 2020 pageant, Svati Shah looked into the camera and delivered her important message.

It wasnt merely that heart disease and stroke kill more women than all forms of cancer combined. Or that cardiovascular diseases are largely preventable.

It was telling the television audience of over 3.6 million people there are clear ways to change that ways that go far beyond the usual advice of diet and exercise.

By urging more women to take up careers in science and medicine, she said. By ensuring women are included in medical research. By empowering women to change the fact that women living 20 miles apart can have a 20-year difference in lifespan.

When women come together to demand change, change happens.

Dr. Svati Shah is an associate dean in the Duke University School of Medicine and, Im proud to say, a volunteer for my organization, the American Heart Association. I asked her to speak on our behalf at the Miss America pageant because of the passion and spirit she brings to this fight, and to emphasize that women are helping lead the way.

I hope girls who watched were as inspired by Svati as they were by any of the women on that stage. Whats really inspiring is everything that led Svati to that moment.

Her parents fled India in the early 1970s to escape poverty and disease, and so their children could lead happier, healthier lives. Her dad arrived in the United States with $8 and no job. The grit and dedication she saw from her parents especially her mom has turned her into the person she is today: doctor, scientist, wife, mother and so much more.

***

Her story begins in Ahmedabad, India, where her father was born into a home without running water or electricity. As the oldest child, he upheld the custom of helping raise his five siblings.

Her mother also was an oldest child. She had seven siblings; five died before age 5. Sadly, that was somewhat common. Even more sadly, they died of conditions that couldve been treated with antibiotics and fluid hydration.

In his 20s, her dad plunked his life savings into a plane ticket to London and, thus, to a new, more prosperous life. Upon landing at Heathrow Airport, rules required him to take a tuberculosis test. He tested positive. A false positive. Regardless, he was sent back to India, penniless.

Once he earned enough for another ticket, although this time to New York. During the flight, he stepped out of the bathroom and saw a gun pointed at his head. Hijackers. His emigration was rerouted through Cuba, eventually, safely delivering passengers to their intended destination.

Working as an engineer, he was able to bring over his wife a year later. In another year and a half, they had their first child. Svati.

***

The first home Svati remembers was a very small, very nasty apartment across from Montefiore Medical Center in the Bronx.

Her dad worked days as a civil engineer. Her mom worked nights as a punch-card operator for a bank. In the middle of every night, dad woke up and went to the subway stop to escort mom home.

Between her parents opposite schedules and their challenge of raising another younger daughter, Svati began walking to school alone at an early age. She encountered things no child should see. Like someone getting shot on the subway.

She was 9 when her dad got a job in Richland, Washington, the town where the atomic bomb that was dropped on Nagasaki was built. He became an engineer at the nuclear plant and her mom became a secretary there. The family bought a small house.

Then, when Svati was in seventh grade, her parents divorced. Her dad moved away, leaving her mom to raise two teen girls on $19,000 a year.

Although their community included many Indian families, the stigma of divorce made this family outcasts in that community. Food and staples were sometimes bought with food stamps. The thermostat was kept at 55 to save money.

***

Halfway through her senior year of high school, Svati wondered whether she could get into an elite college.

Problem was, shed missed the application deadline. Except for one: Johns Hopkins University.

All she knew was that it was a good school. She got in and, most importantly, earned enough scholarships to make it affordable.

Once on campus, she made a powerful discovery. Hopkins was the perfect school for someone who aimed to wipe out preventable diseases.

That had become Svatis goal because of the horror stories shed heard just from her family.

In addition to the deaths of her moms siblings decades before, both of her fathers parents had gone blind because of cataracts and one of her uncles died from a fever, leaving behind four young children.

I knew from a very young age that I wanted to be in health care, she said. And I just loved science.

***

Svati trained in biostatistics, coding, epidemiology and clinical research on her way to earning a masters degree at the Johns Hopkins School of Public Health.

The plan was to go into public health. Instead, she opted for medical school. Affordability lured her back toward her mom and sister: the University of Washington.

Her ability to code and work with statistics made her in high demand among researchers. Between her desire to do everything and a work ethic forged by her parents and her own hardscrabble youth, she dove into every project she could.

I wasnt the smartest medical school student, but I worked really, really hard, she said. Taking care of patients was fun. It was a constant academic assault: reading about them, figuring out whats wrong and then trying to solve that puzzle.

She did so well that she landed her top choice for an internal medicine residency. Harvard.

***

While in Boston, she decided to focus on cardiology because of the variety. She could interact with patients, perform procedures in the catheterization lab and do research.

Then cardiologist Pat OGara asked what specific area of cardiology she wanted to study.

Stumped, she said, Dr. OGara, if you were me, what would you do?

Genetic epidemiology, he said.

Genetics was emerging as the future of research. Learning how a persons hardwiring could put them at risk for a disease seemed exciting, especially when paired with heart disease, the deadliest of them all. Plus, improving risk prevention seemed like a straight shot to the family history that lured her into medicine.

Svati had never considered it.

Until now.

That sounds great, she told him.

***

Her next stop was a fellowship at Duke, where she aimed to do clinical research through the schools renowned institute.

Then she learned that Duke recently started a Center for Human Genetics. And that one of its main studies involved seeking the genes that cause early onset heart disease in 1,000 families. She gladly joined that team.

The human genome has 3 billion letters and we were looking at 420, she said. It was like searching for a needle in a haystack.

They found several needles.

Soon after, in April 2003, a consortium of scientists completed the Human Genome Project, which then led to major technology advances.

That rocked my world and exploded it, she said. Now we could measure 500,000 letters across the genome.

Out of 3 billion, thats still a tiny amount: 1/6,000.

Again, Svati and her Duke colleagues picked the right haystack.

We found the first gene that causes heart disease, she said. Its actually not in a gene its on the outside of a gene on chromosome 9p21. Its the most consistent risk factor for heart disease, and its held true decades later.

***

Because she continues to have a variety of interests, the focus of her work has shifted many times. One thing shes dug into is the Undiagnosed Diseases Network, a federally funded program that seeks to solve rare, mysterious conditions that afflict families, and she started a genetics clinic at Duke to take care of patients and their families who have genetic heart disorders.

Meanwhile, Svati started her own family. She married another Duke cardiologist, Patrick Hranitzky, and had two sons.

Four years ago, when their oldest son, Kieran, was 5, he was hospitalized because of a severe gastrointestinal bleed. Months later, doctors found the source. One of those rare diseases.

Its called Factor VII deficiency. Its caused by a lack of a protein needed for blood to clot. Screening showed that her younger son, Kellan, has it, too.

We think of different conditions as rare diseases, but in aggregate, they actually affect a lot of people about 1 in 40, she said.

Among the ways to fight it? Genomics.

Last summer, Svati was named director of the Duke Precision Genomics Collaboratory and associate dean of genomics.

Because theres a convergence of data science, electronic health records, population health and a deeper understanding of the genome, we can actually screen people for diseases and identify who is at risk, she said. Theres a long way to go, but this is an exciting time.

***

Its also an exciting time for women in science.

Thats why the American Heart Association partnered with the Miss America pageant.

Thats why Svati stood on stage delivering our message.

Thats why shes sharing her story here.

Many of us were told we cant do everything. We can, she said. Were capable of being great mothers, great scientists, great doctors. You can do it all.

I want women to hear that message, but I also want all people considering this career to know: You can do it all.

See the original post here:
Her parents taught her grit, caring for others. She's using those traits to fight heart disease. - Thrive Global

Scientists around the world are racing to understandCOVID-19, the novel coronavirus that has infected more than 82,000 people worldwide and killed 2,817 people as of Thursday. While there are many known viruses in the same class of coronavirus as COVID-19, some of its peculiarities including its infectivity are perplexing researchers. Now, a recent research paper viewableon the Chinese research siteChinaxiv.organd previously reported on by theSouth China Morning Postnotes that the new coronavirus has an "HIV-like mutation" that gives it novel properties.

"Because of this mutation, the packing mechanism of the 2019-nCoV may be changed to being more similar to those of MHV, HIV, Ebola virus (EBoV) and some avian influenza viruses," the English abstract of the paper states.

Though the paper is yet to be peer-reviewed, the scientists involved hail from Nankai Unviersity in Tianjin, one of the top universities in the world's most populousnation.

The paper adds to the crucial body of research around COVID-19, which still includes more unknowns than knowns. Currently,scientists still do notknow COVID-19's origin, though suspect it is zoonotic, meaning it likely started in an animal before spreading to humans. As the U.S. Centers for Disease Control and Prevention (CDC)note on theirwebsite, COVID-19 is an "emerging disease," and much of what we do know is "based on what is known about similar coronaviruses." More recently,news surfaced today that there are new cases in Germany and California inwhich the patient had no known risk factors.

TheNankai University researchers suggestthat COVID-19's ability to bind tocells is as much as1,000 times greaterthan SARS' ability. Like COVID-19, SARSis also a coronavirus. As explained by the South China Morning Post, SARSand the novel coronavirus share about 80 percent of their genetic structure. However, COVID-19 attacksa proteincalled furin the same proteinthat is attacked byEbola andHIV, which are not coronaviruses. A 2014 research paper suggested that the key to finding a cure for Ebola lay in understanding the protein furin.

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According tothe World Health Organization, SARS is more deadly than COVID-19, but the novel coronavirus is more infectious.

This echoes a separate finding from researchers at the University of Washington (UW) School of Medicine who analyzed the virus's spike architecture.

"The spike is the business part as far as viral entry is concerned," David Veesler, senior author of the report and assistant professor of biochemistry at the UW School of Medicine, said in a media statement."It is in charge not only of attachment at the host cell surface, but also of fusing the viral and host cell membranes to allow the infection to start. The spike is also the main target of neutralizing antibodies, so it's very important for vaccine and therapeutic design."

In their analysis, the researchers found "a furin cleavage site at a boundary between two subunits of the spike protein in the newly emerged coronavirus," according to the media release.

Considering what we do know about the novel coronavirus' genetic makeup, researchers are repurposing drugs used to treat other viral infections in various clinical trials to treat COVID-19.

"The general genomic layout and the general replication kinetics and the biology of the MERS, SARS and [SARS-CoV-2] viruses are very similar, so testing drugs which target relatively generic parts of these coronaviruses is a logical step," Vincent Munster, chief of theViral Ecology Unit at the U.S. National Institute of Health, told Nature.

Americans are bracing for a potential outbreak or even pandemic. In the United States, the CDC said it wasn't a matter of if there will be a disruptive outbreak, but when. Markets in the United States dropped precipitously this week over fears of global economic disruption stemming from COVID-19.

Despite the widespread fear over COVID-19,the seasonal fluremains a greater public health threatin the United States.

Go here to see the original:
Why COVID-19 is more insidious than other coronaviruses - Salon

Early proponents of genome sequencing made misleading predictions about its potential in medicine.

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winning journalist imagined 2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate, said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health, predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clinton stated the Human Genome Project would revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recent article in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation of bipolar disorder, schizophrenia, and alcoholism, among other conditions and behaviors. These articles drew massive attention in the popular media, but were soon retracted or failed attempts at replication. These reevaluations completely undermined the initial conclusions, which often had relied on misguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such as Huntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

A silver bullet genetic fix is still elusive for most diseases.

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy. Gene therapy has gradually progressed in research along a very bumpy path, which has included accidentally causing leukemia and at least one death, but doctors recently have been successful treating some rare diseases in which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

Written by Ari Berkowitz, Presidential Professor of Biology; Director, Cellular & Behavioral Neurobiology Graduate Program, at the University of Oklahoma.

Originally published on The Conversation.

Read the rest here:
Sequencing the Human Genome Was Supposed to Revolutionize Treatment of Disease Heres Why It Failed - SciTechDaily

Its hard enough for any cancer patient to get into clinical trials. Its even harder for a patient with a rare cancer like Todd Mercer.

Mercer, a 52-year-old defense industry professional, lives in Michigan with his wife and their two teenagers. At age 50, Mercer got a colonoscopy, as is recommended for people his age, and received a clean bill of health. Six weeks later, his appendix burst.

The diagnosis, which came in December 2017, was cancer of the appendix. It was the tumor that had ruptured his appendix just beyond the reach of the endoscopic exam meaning his cancer was effectively stage 4 at diagnosis. Mercers cancer has since spread to his liver and lungs.

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Mercer first started looking for clinical trials in November 2018, after his cancer recurred for the first time. Since then, hes been turned down from five studies, and is now trying to get into a sixth.

Mercer recently called in to STATs podcast The Readout LOUD to talk about his experience hunting for a trial that will be willing to take him. Its an experience thats frustratingly familiar in a system in which only about one-seventh of adult cancer patients who are eligible to enroll in clinical trials actually sign up.

What kinds of trials are you looking at?

Originally, I looked at clinical trials that were new and exciting and seemed to have some science behind them that might be promising. Lately, though, Ive done some genetic testing thats revealed some genetic information that is leading me towards trials that are designed for the particular blockades or the phenotypes that my genetic testing has introduced. So, now, Im actually being more strategic about my trial hunt.

Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome.

Why is it important to you to enroll in a clinical trial?

For me, its hope. And its a little bit of hope for others as well.

If I look online, if I look at the data, I can see the trajectory of where my disease is headed with standard of care. Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome thats understanding my diagnosis, understanding my cancer, becoming an advocate for myself, for my treatments, for my care.

I can also look out at whats on the horizon: What other new drugs and new treatments are out there that are helping people? And some of those are in trials, or at least thats my hope. New drugs are being created all the time. There has been promise in other cancers, and so Im looking for that promise in my cancer.

Youve tried to get into five clinical trials and were turned away. Tell us some of the reasons why you were unable to participate in those studies.

For me, the tumor origination in my appendix was my number one obstacle. A lot of trials are designed to enroll only people whose cancer originated in a particular organ. Thats because drug makers are often seeking FDA approval only for cancer with that particular site of origin. And so trials are very careful about which patients they let into the trial because it wont do them any good to collect data on someone with an orphan disease like mine. Not all trials are prohibitive of appendiceal cancer, but many of them are.

Number two for me and so this probably affects more people is something called measurable disease. When you have measurable disease, that means your cancer has formed in such a way that doctors can do a particular measurement. For example, a radiologist can do a measurement to say how large your cancer is to begin with and then how much the treatment affects it in terms of percentage. Is it growing by 10%? Is it shrinking by 20% or 30%? If you dont have measurable disease, many trials wont take you because then they cant get those data.

But theres another factor called evaluable disease, which means the cancer may not be technically measurable but it can still be evaluated. Some clinical trials will use that characteristic. And so I have to find an evaluable trial because, so far, my cancer hasnt been measurable. Now, it could develop that way, but for now, I have to look at other things.

And then Id say the third biggest obstacle for me is exposure. If youve already been exposed to a drug thats in the trial, many trials will exclude you from being in that study. They want virgin candidates who have never been exposed to those particular drugs before, so they know that its the way the drug is administered in the study thats affecting the outcome.

Which kinds of drugs have you been exposed to so far?

Because of my particular situation with an orphan disease, my oncologist has been open to trying some drugs off-label, meaning well do a trial of one for just me. Hell request the drugs, and then we will design a trial that mimics a trial that might be out there at an institution. So he has a pretty good idea of its safety profile and that the drugs arent going to interact inappropriately.

I tried an immunotherapy drug in that situation. And then once I did that, it didnt work. That now prevents me from most trials that have that particular drug in it. I wanted to try it because I wanted to try immunotherapy. Thats a big hope out there for a lot of cancer patients, that can not only bring you into remission, but possibly a cure. So I wanted to expose myself to that, but the tradeoff is that I cant apply to some other trials.

This is not a unique situation in terms of patients getting access to clinical trials. What are you hearing from fellow patients about why theyre getting rejected and how they feel about it?

I havent run into this, butsome people get turned down as they get sicker and sicker ,and their blood work comes back with higher enzymes or is deemed out of tolerance. So, theyre not allowed into the trials as theyre too sick. So we try to advocate to people with cancer: Dont wait until the very end to try trials. Try them while youre still healthy enough to test the medicine, when theyll take you.

People can also be shut out of trials even they meet a trials inclusion criteria. Cost is a big obstacle. The trial will usually pay for the drugs, but a lot of the time it wont pay for the travel to get there, or the doctor exams and the radiology exams, and things like that. So if you dont have good insurance, those costs would become out-of-pocket costs.

Location is another obstacle. Im lucky Im healthy enough to travel right now, so I can get to a trial anywhere. But a lot of people arent either financially or health-wise able to travel to some of these trial locations.

There can, of course, be sound medical and scientific reasons why certain patients arent allowed to enroll in a trial; the goal of scientific research, after all, is to evaluate an experimental treatment as rigorously as possible. But at the same time, theres a growing line of thought that certain exclusion criteria are overly restrictive, especially when so many clinical trials go unfilled. From your vantage point as a patient, how do you think these concerns should be balanced?

Things are restrictive. I mean, cost, location, the exclusion criteria. I try to look at it a little bit differently.

There are a lot of trials out there and a lot of patients. But the trials dont necessarily always publish what their target is. What is the science behind the trial? Are they attacking a particular mutation, a typical blockade, a phenotype? What science directed them to try that combination of drugs or develop that new drug? What are they trying to determine? That needs to be a required piece of information about trials.

And then correspondingly, the patients and the doctors need to be educated on the value of genetic testing.

No patient should ever be diagnosed with cancer without getting genetic testing. That way, you learn what the particular characteristics of your cancer, of your tumor are, what mutations you have, what your blockades are? And if you have that information about your cancer, and the trial is making that information available about what theyre targeting, then youre going to be more desirous of getting into that trial.

So itll incentivize the patients and the doctors to seek out those trials. And then if those trials know that there is a population of patients out there with those particular characteristics that theyre looking for, then theyre incentivized to reach out to those doctors and those patients to find them, to make those matches. Youve got to match the two.

And really, there just needs to be a platform that matches the patients to the trials, and the trials to the patients. Right now, there are for-profit companies out there working on this. Its a large endeavor to gather patient information. Theres all kinds of privacy ramifications. But the problem is theyre selling that information to institutions. So the institution has to buy the information to understand the patient population, the trial population. It becomes problematic very quickly for that information to get into the hands of the doctor, into the hands of the patients, or the hands of the trials where those patients are. Its not being done right now.

Youre now trying to get into a sixth trial. Tell us where things stand there.

So far, its encouraging. It has been delayed, though.

My genetic mapping indicates that there are two drugs that are my highest blockades. And this particular trial has those two drugs in it.

Dont wait until the very end to try trials.

The problem is its a first-in-humans Phase 1 trial. Theyre doing a dose escalation meaning they start by enrolling three people and start them out at a minimal dose. And then when those three people dont have any adverse reactions, then they incorporate three more people and they increase the dose. And then if they dont have any adverse reactions, then three more and then three more until they find out what the maximal tolerating dose is.

The way they they recruit for it, they dont really open slots until theyre ready for the next three people. So Ive located the trial. It happens to be 30 minutes from where I live. So its very fortuitous.

I attended the ASCO-GI conference in San Francisco last month. I just so happened to be flying back from San Francisco to Michigan, and I sat down next to the trial director for the trial that I wanted to get into. So I was able to strike up a conversation and find out where it was with his particular institution, if there were openings or not. And the problem is: no slots have been opened because theyre still waiting for the dose escalation process to work its way out.

I was progressing on my previous treatment, so I was getting sicker and couldnt wait for the slot to open. Im now recycling the previous treatment that I was on last year to see if it will have some effectiveness, just to get me through until potentially a slot opens up. And then I will go through a 28-day detox period where they want no chemo or medicines in your system so that when you do get to the trial, they can better gauge the results. The idea is to show its not residue medicine in my system, its the actual trial drugs, that are making an effect.

Please keep us updated when you get word on that trial. Were rooting for you.

I absolutely will.

This is a lightly edited transcript from a recent episode of STATs biotech podcast, The Readout LOUD. Like it? Consider subscribing to hear every episode.

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Rejected from five clinical trials, a cancer patient waits for one to say yes - STAT

MedicalResearch.com Interview with:

Lajos Pusztai, M.D, D.Phil.Professor of MedicineDirector, Breast Cancer Translational ResearchCo-Director, Yale Cancer Center Genetics and Genomics ProgramYale Cancer CenterYale School of MedicineNew Haven, CT 05620

MedicalResearch.com: What is the background for this study?

Response: We analyzed breast cancer tissues obtained before any therapy and the same cancers after 20 weeks of chemotherapy. This setting is ideal to find out what genomic changes have occurred in cancers that survived therapy. Due to the paucity of such specimens few other studies exist in this space.

MedicalResearch.com: What are the main findings?

Response: All patients received very similar chemotherapy but we found no evidence that a single gene or mutation mediate response to therapy.

Each cancer that survived chemo harbored a different combination of mutations. However, mutations were significantly more common in genes that regulated cell proliferation. We also found that at baseline those cancers that showed genomic signs of DNA repair deficiency had high sensitivity to chemotherapy and these cancers rarely survived the chemo (we call this pathologic complete response).

MedicalResearch.com: What should readers take away from your report?

Response: Breast cancers with genomic scars are more sensitive to chemotherapy. Cancers that have survived chemotherapy tend to have more dysregulated proliferation after treatment due to acquired mutations in many different genes compared to pretreatment cancer.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Studying drug resistance is very challenging because each cancer develops resistance through its own way.

Any disclosures? This study was funded by the Breast Cancer Research Foundation, the Susan Komen Foundation and the HOPE foundation.

Citation:

Analysis of pre- and post-treatment tissues from the SWOG S0800 trial reveals an effect of neoadjuvant chemotherapy on the breast cancer genome

Ryan L.Powles,Vikram B.Wali,XiaotongLi,William E.Barlow,ZeinaNahleh,Alastair MThompson,Andrew K.Godwin,ChristosHatzisandLajosPusztaiClin Cancer ResJanuary 9 2020DOI:10.1158/1078-0432.CCR-19-2405

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The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

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Cancers That Survive Chemotherapy Acquire Resistance Genes in Different Ways - MedicalResearch.com

Were proud to be Nuclear Free. We want to be Predator Free. But what about GE Free?Is it time to have a national conversation about genetic engineering?

Dr Sean Simpson Source: 1 NEWS

As I sit opposite Dr Sean Simpson in his companys high-tech Chicago HQ, I cant help but notice his T-Shirt.

Firstly, because its bright yellow. Secondly because hes worn it before he tells me he owns three, all in various stages of fading. The message on the front however couldnt be clearer Science Doesnt Care What You Believe.

Simpson is a man on a mission to reduce the worlds carbon footprint a mission that began in New Zealand.

It was a very basic set up when he started his company LanzaTech with the late Dr Richard Forster in an Auckland basement back in 2005.

Our first experiments were done with a rotisserie unit bought from The BBQ Warehouse and two defunct refrigeration units from the local dairy, he laughs.

Both scientists, Simpson and Forster set out to make a clean burning fuel, ethanol from waste products i.e. pollution and rubbish. They succeeded - the company is now valued at over $1 billion.

Its understandable then that when LanzaTech announced in 2014 it was relocating its head office from Auckland to Chicago there was a sense that New Zealand had missed a major opportunity to retain this innovative and world-leading company.

Simpson acknowledges that New Zealand is a fantastic place in which to start a business, but one of the key reasons for their move was our stance on genetic engineering.

LanzaTechs process uses microbes that secrete ethanol when they are fed waste gases but by genetically modifying the bugs, they can produce a range of other chemicals i.e. not just ethanol. Those chemicals can be used to make things we need every day without contributing to our carbon footprint, and you can't scale that technology in New Zealand.

The government's interim climate change committee has pointed to that stance (which predominantly confines GE to the lab), as a possible barrier to lowering our carbon emissions.

GE also has potential applications in pest control remember were aiming to be predator free by 2050. However, for now, the rules arent likely to change.

Professor Peter Dearden, the Director of Genomics Aotearoa from the University of Otago says pest control, agriculture and medicine are key areas where Kiwis could benefit from GE technology but that our regulations have had a chilling effect on research as much of it depends on whether companies can take their technology to market.

The result of which is that were not doing critical work we need to do in the laboratory because the chances of it being used are so small".

Dearden believes our position will only change if the issue is personalised the best approach is for us to look at NZ solutions to NZ problems, things like Kauri dieback, invasive wasps. The key thing is making it about people, if you or I see a personal benefit then were much more likely to see it differently".

Ultimately, he says its about weighing up the risks and benefits so the public can decide.

The Minister for the Environment, David Parker, was advised on the matter late last year by officials. His office confirmed on Friday that he is still considering it as it is not a straightforward issue.

Even though our GE rules were a factor in LanzaTech heading off-shore, Bruce Jarvis of the governments business support agency, Callaghan Innovation, says it wasnt the only reason as for NZ companies to be successful they have to be close to their market.

In the US most petrol is blended with up to 10 per cent ethanol so theres an enormous opportunity for ethanol producers there.

Jarvis says even though it can be a blow to the Kiwi psyche when a company leaves (especially when its received government start-up funding), there isnt enough focus on their legacy and ongoing benefits to NZ.

He says often whats left behind are highly skilled people who start their own companies and share what theyve learned in terms of commercialisation and thats gold for us.

Its part of the cycle, these people are entrepreneurs, they get bored quickly, this is what they love doing, they love building successful tech companies.

Its an ambition Sean Simpson shares, hes determined to come back to New Zealand for good one day to reinvest his time and talent in other tech start-ups.

In the meantime, although the sentiment behind Seans favourite T-shirt will never change, it could be a lot more faded before theres a significant change to our GE rules.

For the full story on Sean Simpsons incredible journey with LanzaTech, watch SUNDAY, on TVNZ1 at 7:30pm.

View post:
Is it time to have a national conversation about genetic engineering? - TVNZ

By Judith Graham

Kaiser Health News

Do I know Im at risk for developing dementia? You bet.

My father died of Alzheimers disease at age 72; my sister was felled by frontotemporal dementia at 58.

And thats not all: Two maternal uncles had Alzheimers, and my maternal grandfather may have had vascular dementia. (In his generation, it was called senility.)

So what happens when I misplace a pair of eyeglasses or cant remember the name of a movie I saw a week ago? Now comes my turn with dementia, I think.

Then I talk myself down from that emotional cliff.

Am I alone in this? Hardly. Many people, like me, whove watched this cruel illness destroy a family member, dread the prospect that they, too, might become demented.

The lack of a cure or effective treatments only adds to the anxiety. Just this week, news emerged that another study trying to stop Alzheimers in people at extremely high genetic risk had failed.

How do we cope as we face our fears and peer into our future?

Andrea Kline, whose mother, as well as her mothers sister and uncle, had Alzheimers disease, just turned 71 and lives in Boynton Beach, Florida. Shes a retired registered nurse who teaches yoga to seniors at community centers and assisted-living facilities.

I worry about dementia incessantly. Every little thing that goes wrong, Im convinced its the beginning, she told me.

Because Kline has had multiple family members with Alzheimers, shes more likely to have a genetic vulnerability than someone with a single occurrence in their family. But that doesnt mean this condition lies in her future. A risk is just that: Its not a guarantee.

The age of onset is also important. People with close relatives struck by dementia earlybefore age 65are more likely to be susceptible genetically.

Kline was the primary caregiver for her mother, Charlotte Kline, who received an Alzheimers diagnosis in 1999 and passed away in 2007 at age 80. I try to eat very healthy. I exercise. I have an advance directive, and Ive discussed what I want [in the way of care] with my son, she said.

Lately, Ive been thinking I should probably get a test for APOE4 [a gene variant that can raise the risk of developing Alzheimers], although Im not really sure if it would help, Kline added. Maybe it would add some intensity to my planning for the future.

I spoke to half a dozen experts for this column. None was in favor of genetic testing, except in unusual circumstances.

Having the APOE4 allele [gene variant] does not mean youll get Alzheimers disease. Plenty of people with Alzheimers dont have the allele, said Mark Mapstone, a professor of neurology at the University of California-Irvine. And conversely, plenty of people with the allele never develop Alzheimers.

Tamar Gefen, an assistant professor of psychiatry and behavioral sciences at Northwestern Universitys Feinberg School of Medicine, strongly suggests having an in-depth discussion with a genetic counselor if youre considering a test.

Before you say I have to know, really understand what youre dealing with, how your life might be affected, and what these tests can and cannot tell you, she advised.

Karen Larsen, 55, is a social worker in the Boston area. Her father, George Larsen, was diagnosed with vascular dementia and Alzheimers at age 84 and died within a year in 2014.

Larsen is firm: She doesnt want to investigate her risk of having memory or thinking problems.

Ive already planned for the future. I have a health care proxy and a living will and long-term care insurance. Ive assigned powers of attorney, and Ive saved my money, she said. Eating a healthy diet, getting exercise, remaining socially engagedI already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a testsit around and worry? Larsen said.

Currently, the gold standard in cognitive testing consists of a comprehensive neuropsychological exam. Among the domains examined over three to four hours: memory, attention, language, intellectual functioning, problem-solving, visual-spatial orientation, perception and more.

Brain scans are another diagnostic tool. CT and MRI scans can show whether parts of the brain have structural abnormalities or arent functioning optimally. PET scans (not covered by Medicare) can demonstrate the buildup of amyloid proteinsa marker of Alzheimers. Also, spinal taps can show whether amyloid and tau proteins are present in cerebrospinal fluid.

A note of caution: While amyloid and tau proteins in the brain are a signature characteristic of Alzheimers, not all people with these proteins develop cognitive impairment.

Several experts recommend that people concerned about their Alzheimers risk get a baseline set of neuropsychological tests, followed by repeat tests if and when they start experiencing worrisome symptoms.

When it comes to thinking and memory, everyone is different, said Frederick Schmitt, a neurology professor at the University of Kentucky. Having baseline results is very helpful and allows us to more carefully measure whether, in fact, significant changes have occurred over time, he said.

Nora Super, senior director of the Milken Institute Center for the Future of Aging, watched her father, Bill Super, and all three of his siblings succumb to Alzheimers disease over the course of several yearsfalling, she said, like a row of dominoes.

One of her sisters was tested for the APOE4 genetic variant; results were negative. This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Super has focused on learning as much as she can about how to protect her brain. At the top of the list: managing her depression as well as stress. Both have been linked to dementia.

Also, Super exercises routinely and eats a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans. She is learning French (a form of cognitive stimulation), meditates regularly and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia. All of these factors are modifiable.

What if Super started having memory problems? I fear I would get really depressed, she admitted. Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening but cant do anything about it, is excruciating. Im not sure I want to go through that.

Gefen of Northwestern said she tells patients that if [cognitive testing] is something thats going to stress you out, then dont do it.

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers. When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious. At that point, Nancy was still living in the familys large home in Brookline, Massachusetts, which she refused to leave.

Eventually, after his mother ended up in the hospital, Smith was given legal authority over her affairs and he moved her to a memory care unit.

Now, shes deteriorated to the point where she has about 5% of her previous verbal skills, Nigel said. She smiles but she doesnt recognize me.

Does he want to know if something like this might lie in his future?

A couple of years ago, Smith said he was too afraid of Alzheimers to contemplate this question. Now hes determined to know as much as possible, not so much because Im curious but so I can help prepare myself and my family. I see the burden of what Im doing for my mother, and I want to do everything I can to ease that burden for them.

Kim Hall, 54, of Plymouth, Minnesota, feels a similar need for a plan. Her mother, Kathleen Peterson, 89, a registered nurse for over 50 years, was diagnosed with vascular dementia five years ago. Today, she resides in assisted living and doesnt recognize most of her large family, including dozens of nieces and nephews who grew up with Hall.

Hall knows her mother had medical issues that may have harmed her brain: a traumatic brain injury as a young adult, uncontrolled high blood pressure for many years, several operations with general anesthesia and an addiction to prescription painkillers. I dont share these, and that may work in my favor, she said.

Still, Hall is concerned. I guess I want to know if Im at risk for dementia and if there is anything I can do to slow it down, she said. I dont want what happened to my mother to happen to me. Probably, Hall speculated, shell arrange to take a neuropsychological exam at some point.

Several years ago, when I was grieving my sisters death from frontotemporal dementia, my doctor suggested that a baseline exam of this sort might be a good idea.

I knew then I wouldnt take him up on the offer. If and when my time with dementia comes, Ill have to deal with it. Until then, Id rather not know.

The rest is here:
Stalked by the fear that dementia is stalking you - Tri County Sentry

Every year, the MIT Technology Reviewputs its considerable brainpower into seeing what technological advances will shape the year ahead. Those technologies could range from manufacturing, like 3D Metal Printing in 2018, to the cow-free burger, as chosen by Bill Gates in 2019.

The point here is that all of these technologies genuinely have the potential to change how we live and work. I mean, one of the tech items chosen in 2011 was Facebooks Social Indexing, and we all know how that changed us.

The list this year ranges from privacy to anti-aging treatments that work, and various technologies using quantum mechanics in weird, unique ways.

Heres the full list, complete with links to MIT Technology Reviews blog post so you can learn more:

Phew, thats a lot of things to watch this year. I could really do with some of that anti-aging stuff though, like right now.

What do you think? Do you agree with this list? What other technologies do you believe deserve to be on here? Let us know down below in the comments or carry the discussion over to ourTwitterorFacebook.

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MIT Technology Reviews 10 breakthrough technologies to watch in 2020 - KnowTechie

Governor Andrew M. Cuomo today announced a 30-day amendment to the FY 2021 Executive Budget which will include legislation to establish the SUNY Curing Alzheimer's Health Consortium within the State University of New York. The Consortium will work to identify genes that predict an increased risk for developing Alzheimer's and collaborate with public and private research institutions on projects and studies to identify opportunities to develop new therapeutic treatment and cures for Alzheimer's. The goal of the Consortium will be to map the genetics of 1 million people, suffering from or at-risk of developing Alzheimer's Disease, over 5 years. This new wealth of data will support researchers as they work towards developing newtreatments and cures for the disease.

"Alzheimer's Disease affects hundreds of thousands of New Yorkers each year and takes a devastating toll on both patients and caregivers who lack access to sufficient treatment options due to an insufficient body of research"Governor Cuomo said."Genomics have made significant progress in the diagnosis and treatment of diseases ranging from cancer to cardiovascular disease, and could present major breakthroughs in the fight against Alzheimer's Disease. The Curing Alzheimer's Health Consortium will collect genomic data on a statewide scale and support genetic researchers as they work to slow the deadly progress of this disease."

SUNY will issue a request for proposals in partnership with Empire State Development's Life Sciences Initiative for private providers to partner with the SUNY system and other not-for-profit and private hospitals, and non-profit higher education research institutions to map the genomes of individuals suffering from or at risk of Alzheimer's.The ESD Life Science Initiative will provide $20M in existing funding to the Consortium to identify and recruit 200,000 people for genetic testing as part of phase one of the initiative.

Entities awarded the RFP will partner with SUNY's systems, including SUNYUpstate Medical, SUNY Downstate Medical, Renaissance School of Medicine at Stony Brook University,Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, as well asother medical centers and hospitals,to launch an initial phase of their partnership that will map 1 million people suffering from, or at risk of, Alzheimer's over 5 years.Upon completion of the mapping, the resulting database will be made freely available to advance research on Alzheimer's Disease.

Alzheimer's in New York

According to the Department of Health, in 2017 an estimated 390,000 individuals in New York State suffered from Alzheimer's Disease, a figure that is expected to increase to 460,000 by 2025. Despite its prevalence, there remains a concerning lack of research and available treatment options to address Alzheimer's, which contributes to staggering disability and disease burden for patients, their families and society, and billions in economic costs annually to the State

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Governor Cuomo Announces 30-Day Amendment to FY 2021 Executive Budget to Establish SUNY Curing Alzheimer's Health Consortium - ny.gov

For Immediate Release: February 21, 2020

The U.S. Food and Drug Administration today authorized marketing of the first test to detect a genetic condition known as Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay and intellectual disability. The test is intended as an aid in diagnosing FXS and is to be used along with the evaluation of a patients family history and clinical signs and symptoms of FXS. Additionally, this test is intended for use in adults who may be carriers of genetic alterations in the gene associated with FXS, called the FMR1 gene.

This novel diagnostic provides doctors and their patients the first FDA authorized genetic test to aid in diagnosing Fragile X Syndrome, as well as helping parents know their risk of having a child with Fragile X Syndrome, said Wendy Rubinstein, M.D., Ph.D., director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDAs Center for Devices and Radiological Health. Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention.

According to the Centers for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 8,000 females in the U.S. have FXS, which is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome. A segment of the DNA in the gene, known as a CGG trinucleotide repeat, is repeated in excess on the X chromosome in individuals with this disorder. While some repetition of the CGG repeat is normal, a high number of repeats may indicate potential health risks. The AmplideX Fragile X Dx and Carrier Screen Kit uses blood specimens from patients to measure the number of repeats of the CGG segment in the FMR1 gene. The test can determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.

Individuals with a full mutation typically have FXS, which is associated with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities and autism spectrum disorder. Women with a premutation have an increased risk of having a child with FXS as compared to women without a premutation. The number of women who have the Fragile X premutation is believed to be approximately 1 in 150 women. Men with a premutation will pass the premutation to their daughters only. Individuals with normal or intermediate levels of repeated CGG segments are currently thought to be asymptomatic for FXS or other fragile X-associated disorders.

In addition to aiding in the diagnosis of FXS and for carrier testing, this test can be used as an aid in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, which is a movement and cognitive disorder that typically occurs in adults over age 50, and fragile X-associated primary ovarian insufficiency, a condition that is characterized by reduced function of the ovaries. The AmplideX Fragile X Dx and Carrier Screen Kit is not intended for use in fetal diagnostic testing, the screening of eggs obtained for in-vitro fertilization prior to implantation, or standalone diagnoses of FXS.

The FDA reviewed data for this test through the de novo classification process, a regulatory pathway for low- to moderate-risk devices of a new type. During this process, the FDA evaluated data from specimens collected at three clinical sites to assess the accuracy of the test. The data demonstrated that the diagnostic accuracy of the test is greater than 95%.

Along with this authorization, the FDA is establishing criteria, called special controls, that test developers must meet for tests of this type, including requirements relating to labeling and performance testing. These special controls, when met along with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type. This action also creates a new regulatory classification, which means that subsequent devices of the same type with the same intended use may go through the FDAs 510(k) pathway, whereby devices can obtain clearance by demonstrating substantial equivalence to a predicate device.

The FDA granted marketing authorization of the AmplideX Fragile X Dx and Carrier Screen Kit to Asuragen Inc.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Authorizes Marketing of the First Genetic Test to Aid in the Diagnosis of Fragile X Syndrome - FDA.gov

In 2004, Dr. Michael Ackerman got an unexpected phone call.

On the other end of the line was a medical examiner in Kentucky who had recently performed a befuddling autopsy on a 12-year-old Amish girl.

He was perplexed why this seemingly healthy Amish child died suddenly during play, said Ackerman, a genetic cardiologist at Mayo Clinic who studies why some young people die unexpectedly. And he says, I have DNA for you.

Ackerman, who also leads Mayos Windland Smith Rice Sudden Death Genomics Laboratory, pioneered a postmortem test to detect genetic causes behind sudden death. The medical examiner in Kentucky had heard about his work.

That phone call would ignite more than a decade of genetic sleuthing across multiple states to understand why a healthy Amish child had died without an obvious explanation. The mystery of her death and later, the deaths of more than a dozen other Amish children would vex researchers and clinicians for years, until Ackerman and his colleagues finally made a breakthrough in their Mayo lab.

Those findings were recently published in the JAMA Cardiology medical journal. Now, those same researchers are working to find a treatment.

Not long after the medical examiners call in 2004, Ackerman and his team were just beginning their research into the girls DNA when tragedy struck again. Four months after losing their daughter, the family lost her 10-year-old sister under similar circumstances suddenly, while she was outside playing.

Ackerman said his research team had a hunch the siblings deaths involved a gene called RYR2. When there's a single error on the gene, it causes an irregular heart rhythm that often reveals itself in the form of fainting spells while exercising. It can be fatal.

But that was more than 15 years ago, and medical research tools hadnt quite caught up to the teams needs.

Back then, it was painfully slow. It sort of was one gene at a time, Ackerman said.

After extensive testing of the girls' DNA, the Mayo researchers still had no answers.

We basically had a project that was stalled and would stay stalled until we would have evolution of technology, Ackerman said.

Over the next decade, 16 more Amish children died while exercising, without warning. The same family that lost their daughters in 2004 lost two more children under similar circumstances. Amish children in other states died, too.

While Mayos research languished, more than a thousand miles away, doctors at the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., encountered a similarly tragic story.

In 2005, a young, apparently healthy Amish child was playing and died suddenly. The autopsy revealed no obvious cause. Several years later, the girls sister experienced cardiac arrest but survived and she is still living, 15 years later.

This started a trend, essentially, in their family, said Kristi Fitzgerald, a genetic counselor at Nemours and an author of the JAMA paper. Its not just a fluke chance, a terrible, tragic event. Now with two girls in one family, the presumption was that this probably was a genetic cause, something to do with a genetic arrhythmia.

But just as in Ackermans lab in Rochester, Minn., genetic testing at Nemours turned up nothing.

Over the years, Nemours staff collaborated with Mayo staff, and in the process learned that the sisters who had died in Kentucky were from the same extended family as the child who had died in Delaware.

Researchers also identified additional relatives in Iowa who have the same genetic defect. To date, no members of Amish communities in Minnesota appear to have the condition.

Clinicians at Mayo and elsewhere are fiercely protective of the families affected, and declined to identify them to maintain their privacy.

In Rochester, Ackerman and his staff continued to collect DNA samples from the children who died in this perplexing way, hoping someday to figure out the cause of their death.

They just needed the technology to catch up. In 2016, it started to.

Ackerman said new testing techniques revealed that the sudden deaths weren't caused by just one error on the RYR2 gene they were caused by 300,000 of them.

What's more, the risk of sudden death came only when the children inherited that faulty gene from both parents.

"We basically did genomic triangulation and figured that all of these sudden deaths and all of these different Amish communities were happening for the exact same reason: a double whammy, a double hit of this exact same duplication, Ackerman said.

Nemours pediatrician Matthew Demczko has made a career working with Amish children who live with an array of genetic abnormalities.

He said the genetic heart defect detected by the Mayo team is likely unique to the Amish community. Thats because researchers think people with the defect are all connected to a small number of people who established a particular Amish community from which the children affected were all descended. Those people are what Demczko calls "founder individuals."

Their genetic information has now become sort of the genetic thumbprint of the entire community, he said.

Demczko said Amish communities tend to be small and insular, and members of the community typically marry and have children with people who are also Amish.

That factor on top of the idea that from a cultural perspective, very few individuals come into the Amish community, there's really no introduction of new genetic material, he said.

Beating heart cells engineered from blood donated by two people living with a condition that has caused the sudden deaths of Amish children are shown on a microscope screen inside of the Mayo Clinic's Windland Smith Rice Sudden Death Genomics Laboratory.

Evan Frost | MPR News

Fitzgerald, Demczkos colleague, is on the front lines of screening members of Amish communities in their region for the defect. She said that Nemours positive reputation in nearby Amish communities helps in her work.

Word of mouth is important, she said. I think that's a great source of referral, to have a patient to say, We had a good experience. This went well.

Fitzgerald said her Amish patients ask the same questions about genetic testing as other families do: What will the test tell them? Why is the test important? What will they do with the information if they test positive?

And she said it's a misconception that Amish people shun medicine.

The families shes worked with, she said, have been open to testing and treatment.

"Parents want what's best for their child. It's about building a relationship, you know, with the family, she said. Most are not at all skeptical."

Fitzgerald said that some parents whose children have tested positive for the condition have opted to get an implantable defibrillator, which is the only available treatment.

But many Amish families dont carry health insurance, so that solution is not only invasive, but can be prohibitively expensive.

Back at Mayo, researcher Dave Tester is trying to better understand the genetic defect he helped discover. Now that theyve pinpointed the cause of the childrens sudden death, theyre trying to find a more affordable and accessible treatment.

"This is sort of phase 2 in this study, said Tester, who also authored the JAMA article.

To do that, the researchers turned to another novel approach: They engineered beating heart cells from blood samples donated by two people living with the condition.

He points to a cluster of heart cells undulating rhythmically under a microscope.

"These cells have the same exact genetic background that our patient does, he said. Here we can understand, at least from this patient's perspective what is the cell doing?"

Beating heart cells from blood samples donated by two people living with a condition that has caused the sudden death of Amish children.

Evan Frost | MPR News

In the coming months, Tester and his staff will perform a battery of tests on these cells, looking for clues that point them toward a better treatment.

But in the meantime, Mayo and Nemours continue to collaborate to understand just how common the condition is and how widespread. Their network has also extended to Iowa, where a genetic counselor is working with nearby Amish communities.

To ease that process, Mayo has made the test free for Amish families who may be affected.

Fitzgerald, the genetic counselor, is hopeful additional screening in Delaware and in other Amish communities will reveal more information about the condition.

And while she may not be able to offer her families a perfect solution today, at least they're starting to get some answers.

We don't want to give false hope, but I think it is important to tell families how far we come, she said. We tell people Hold on, stay tuned.

The rest is here:
Amish kids were dying mysteriously. Mayo scientists solved it. But can they treat it? - Minnesota Public Radio News

Any given morning,Megan Roche, MD, is probably out running -- but we're not talking about a standard 5K. Roche is the2016 USA Track and Field ultrarunner and sub-ultrarunner of the year, a five-time national ultrarunning champion, a North American Mountain Running Champion and six-time member of the U.S. world ultrarunning team.

When she's not scaling muddy mountains or competing in races up to 50 miles long, Roche is working on her PhD in epidemiology, after completing a medical degree at Stanford in 2018. Her research enables her to continue running, coaching andwriting about runningwith her husband, a fellow ultramarathon winner, all while delving into the science of athletic performance.

She slowed down long enough to talk with me about her love of running and science, and how these two passions shape her career path.

How did you become interested in running and taking on longer distances?

I always knew I loved running. I played field hockey in college and then I took a fifth year to run track. From there, it was just a natural progression. I love nature and time out on trails, so running longer distances just means covering more ground in beautiful places. Plus, I enjoy the physiology element of longer-distance running. I think there's a lot of different variables that go into the longer distances, like fueling, the mental mindset and metering out your effort.

Do you think about what's happening in your body while running longer races?

I do sometimes. But honestly, when it hurts, I try to turn that off and just have a completely blank brain. After the fact, it's fun to go through and think about the different cellular processes that are going on as your body is going through that pain and putting out power. Even though it's unpleasant, it's a really beautiful element of human physiology that we can push the body to its limits.

How do you balance a sport and a profession that are both so time-intensive?

I get almost all my training done in the early morning. I'm a morning person, which helps. When I run or exercise it actually makes me more time efficient -- I feel like I need that energy release. Getting in the training is a way to prime my brain for the rest of the day. I probably spend about 13 or 14 hours a week training, so in the grand scheme of things, these are just hours that make me more productive down the road.

Does your running impact your research and vice versa?

It definitely does. One of my research focuses is genetic predictors of sports injury in athletes, working withStuart Kim, PhD. Some of that research involves genetic consulting with athletes and oftentimes training questions come up.

Another study I'm working on is the Healthy Runner Project withMichael Fredericson, MD;Emily Kraus, MD, andKristin Sainani, MD, PhD. There, we're looking at stress fracture rates in Stanford track and field athletes, and looking at preventing bone stress injuries, primarily through a nutrition intervention and making sure that athletes have sufficient energy availability. Being able to connect with the research participants as athletes is helpful. I also apply Healthy Runner research in my work as a running coach and in my writing.

Have you tested your own genetics?

I have. Fortunately, they're actually pretty good, in terms of injury markers. I did rupture my high hamstring tendons, recently, so I will be searching for a hamstring marker down the road.

What are you most proud of in your life thus far?

For me, the decision not to go to residency was one that was very difficult. Heading into medical school, I was interested in being an orthopedic surgeon, but I realized that it just wasn't conducive to all the other things I have going on in life.

I'm proud of being able to step off that path, being okay with taking a "career swerve" and ultimately finding what I love. Every morning I wake up, and I'm so excited to do the science and the running that I do with inspiring mentors and people that I care about. I'm proud of the decisions that got me to that point and grateful for the balance that I've found.

Photo by Daphne Sashin

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She's an ultrarunning champion, studying the genetics of sports injury - Scope