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Archive for the ‘Genetics’ Category

CRISPR: Its Potential And Concerns In The Genetic Engineering Field – Forbes

Tuesday, March 10th, 2020

Imagine computers taking over the world. This scenario has been the grounds for many movies such as The Terminator. The debate over whether AI is dangerous or not has been a popular topic since the birth of the technology. As Elon Musk cautioned at SXSW 2018, AI is far more dangerous than nukes.

The same can be said about CRISPR, the new genetic engineering tool with the potential to delay aging, cure cancer and forever change the human species for better or worse. While it has been slowly gaining traction in the media and was discovered as early as 1993, CRISPR remains widely unknown despite the magnitude of its potential.

In my work focusing on AI, carbon offsetting, blockchain and CRISPR, I'm seeking to understand the big problems that I believe we will tackle this century. I'm currently networking with promising biolabs in Japan to increase my CRISPR expertise, and I would like to share what I've learned.

Now is the time to start educating yourself about CRISPR, keeping an eye on the market and establishing yourself as an industry leader.

How have we already changed life itself?

We have been engineering life since the dawn of time through selective breeding, but after discovering DNA, scientists began to take the process to a whole new level.

In the 1960s and 70s, scientists used radiation to cause random mutations in the hopes of creating something useful by pure chance. Sometimes it worked. A famous 1994 example is the FLAVR SAVR tomato, which was given an extra gene to suppress the buildup of a rotting enzyme to increase its shelf life.

In 2016, the first baby was born using the three parent genetic technique for maternal infertility.

What is CRISPR?

CRISPR (clustered regularly interspaced short palindromic repeats) is part of bacteria's immune system against bacteriophages, viruses that inject their DNA and hijack bacterias genomes to act as factories.

When a bacterium survives this attack, it saves part of the genetic code of the virus to form a protein (e.g. Cas9), which in turn scans the bacterium's insides for virus DNA matching the sample. If it finds any, the virus DNA gets cut out, effectively repelling the attack. This DNA archive is what we call CRISPR.

Here's the game-changer: Scientists discovered that it is programmable. In other words, programming it will give us the ability to modify, add or remove DNA parts with relative ease. This has the potential to cut gene editing costs, reduce the time to conduct experiments and vastly lower the complexity of the process.

Its potential applications are not limited to genetic diseases, either. Being able to edit DNA is opening up research possibilities for fighting other diseases, including cancer. It has the potential to slow aging and extend our lifespan. It can alter our bodies, leading to talk that it could eventually give us superhuman powers.

Are ethical concerns warranted?

Just like GMOs, there is also a lot of controversy and ethical debate surrounding CRISPR. It is sometimes referred to as Pandora's box.

Every parent wants a healthy child, but once genetic modification becomes commonplace in reproduction, I predict it won't be long before purely aesthetic changes are requested. This could ultimately lead to a cliff between genetically enhanced and unenhanced humans, where designer babiesare considered superior.

We have come quite a long way since the initial discovery, but CRISPR is still in its infancy. As precise as Cas9 editing is, errors are being made. Should germinal genes be edited, these changes could potentially be passed on.

However, at this point, I do not believe the question is whether it is good or bad. We have already been altering human DNA and will continue to do so. In my opinion, improper regulations are only likely to incentivize less transparent research in a more dangerous environment.

What are some early stage best practices for industry leaders?

Progress is slow but steady. The topic is complex and is far less tangible than, say, blockchain. Investments will require very patient pockets, due to potential temporary bans on clinical research using CRISPR. But with the sheer magnitude of its potential, I believe there won't be any industry that won't be affected by it in the future.

If, like me, you're a business leader getting involved in this industry, there are a few best practices you can keep in mind. Should your regulator become too much of a roadblock for your project despite your best efforts to be transparent and compliant consider moving it to a different jurisdiction. I predict others will do the same if U.S. regulations become stricter and slow the process.

As with AI, it's important to apply necessary caution. Projects must be transparent and compliant with regulators. The danger, if regulators become too uncooperative, is that CRISPR projects will move to less regulated spaces. Avoid jurisdictions that turn a blind eye to riskier procedures and experiments.

I believe ethical concerns need to be addressed logically. We have already crossed many boundaries, and there will always be those who are willing to do what others are not. That's why it's in everyone's best interest to discuss ethical concerns and bring critical thinking as an active part of research and development.

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CRISPR: Its Potential And Concerns In The Genetic Engineering Field - Forbes

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Fighting the coronavirus outbreak with genetic sequencing, CRISPR and synthetic biology – Genetic Literacy Project

Tuesday, March 10th, 2020

The rapid and frightening spread of the coronavirus has sparked a battle thats drawing on a host of emerging technologies. Government, industry and academic researchers are scrambling to improve our ability to diagnose, treat and contain a virus thats threatening to reach pandemic status.

This isnt the first time researchers have faced off against a dangerous member of this family of viruses. But it is the first time theyve done it with a toolbox that includes the gene-editing tool CRISPR and the emerging field of synthetic biology.

Indeed, weve known about coronaviruses for nearly 60 years. But for several decades, they attracted little attention, causing symptoms similar to the common cold.

That changed in 2003, when a deadly member of the coronavirus family, SARS-COV, spread to 29 countries, killing 774 people. Suddenly, a coronavirus found previously in animals had managed to jump to humans, where it killed nearly 10 percent of those infected. The virus sparked fear across the globe, but was brought under control within a year. Only a small number of cases have been reported since 2004.

Then in 2012 came MERS-COV. The virus emerged in Saudi Arabia, jumping from camels to humans. The virus has never caused a sustained outbreak, but with a mortality rate of35 percent, it has killed 858 people so far. Infections have been reported in 27 countries, with most in the Middle East. The virus is considered by the World Health Organization to be a potential epidemic threat.

Interestingly, neither of these previous coronavirus threats were stopped by a cure or a vaccine. MERS still lurks in the background, while SARS was contained by what amounts to old-school practices, according to a 2007 article in Harvard Magazine:

Ironically, in this age of high-tech medicine, the virus was eventually brought under control by public-health measures typically associated with the nineteenth centuryisolation of SARS patients themselves and quarantine of all their known and suspected contactsrather than a vaccine.

There currently is no cure for this new wave of coronavirus infections (the resulting disease is called Covid-19), even though some antiviral therapies are being tested and one experimental vaccine is ready for testing in humans. The virus genome has been sequenced and its genetic code may shed light on how the disease starts and spreads, as well as inform on potential pharmaceutical targets for drug development. The Covid-19 virus similarity to the SARS-COV may mean that cures developed for one strain may prove effective for the other. The Canadian company AbCellera plans to test its antibody technology, already tried against MERS-COV, to neutralize the Covid-19 viral bodies.

What is really encouraging is the level of international collaboration aimed to fight this health emergency. Funding bodies, scientific societies and scientific journals have signed a joint statement, agreeing to openly share research findings with the global research community as soon as they are available. The very quick information dissemination gave scientists around the globe several RNA sequences of the virus genome. And these sequences can be used to better understand the epidemiology and origins of the virus. Moreover, the advancements in DNA technology let research groups in academia and industry synthesize the viral genetic material to use in the two areas of focus: detection of virus and vaccine development.

One of the trickiest things about the coronavirus is its speculated transmission by asymptomatic patients. This increases the number of infections and makes containment measures less effective, spreading fears that the virus may establish a permanent presence in some areas. There are also fears that many incidents lie undetected, spreading the virus under the radar. As of March 9, the virus has infected more than 110,000 people, killing nearly 4,000, in 97 countries.

Several biotech companies have scrambled to provide kits and resources for early and reliable detection of the new coronavirus. Mammoth Bioscience, a San Francisco-based startup, is already working on a detection assay using their CRISPR technology. The DNA technology companies IDT and Genscript already distribute PCR-based kits for detection for research purposes. The Chinese companies BGI and Liferiver Biotech use the same PCR technology for the kits they provide to their countries health authorities.

The French-British biotech Novacyt announced the launch of a diagnostic kit for clinical use in middle February. The kit will also use quantitative-PCR, developed by their sister company Primerdesign. Its high specificity will reduce the analysis time to less than two hours. The companys CEO Graham Mullis told Reuters that each kit will cost around $6.50, and that they have already received more than 33,000 orders.

The only way to effectively control and even eliminate the outbreak is to develop a vaccine. Unfortunately, the new outbreak hasnt attracted the attention of the lead vaccine manufacturers. Non-profit organizations, such as the Coalition for Epidemic Preparedness Innovations (CEPI), have jumped in to fill the gap. But despite the emergency, a vaccine may be several years away from being available

The University of Queensland in Brisbane, Australia, announced that theyre working on a coronavirus vaccine which they hope to have ready within the next few months. The molecular clamp approach the Australian researchers have developed allows is designed to boost the immune system response and work against several viral infections. GlaxoSmithKline has offered is adjuvant technology adjuvants are added to vaccines to boost their efficiency to speed up the process.

The Cambridge, MA-based Moderna uses a different approach to make vaccines. Their mRNA technology is modular and very adaptable to use for a new disease or when the epitope (the vaccines target) mutates. The company says its vaccine is ready for human trials.

The Covid-19 outbreak has rightly gained the attention of health authorities and the media. If the virus were to reach countries with weaker healthcare systems than Chinas, the number of deaths will rise significantly and containment will be even harder. Moreover, the long incubation time of the disease, combined with the asymptomatic spread, make quarantine and isolation measures less effective. The biggest risk is for the new coronavirus to become endemic in certain areas, where the disease is never truly extinct and displays seasonal outbreaks. We dont want the Covid-19 to become a new flu.

The health authorities of 2020, the biotech industry, and the society in general are better prepared for a coronavirus outbreak than a few years ago. The situation is less risky than MERS and SARS, though the new virus is harder to contain. This outbreak offers a chance for everyone to become more aware of viral infections, the appropriate precautions and get vaccinated according to the official recommendations. And keep in mind that the best way to stay informed is through official sources, such as the WHO and the CDC.

As for the biotech industry, are they playing their part? The answer is a partial yes; there are several companies that immediately scrambled to help the situation. But the big players within the field could be doing more.

Kostas Vavitsas, PhD, is a Senior Research Associate at the University of Athens, Greece. He is also a steering committee member of EUSynBioS. Follow him on Twitter @konvavitsas

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Fighting the coronavirus outbreak with genetic sequencing, CRISPR and synthetic biology - Genetic Literacy Project

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Mother of Guelph girl with ‘rare’ genetic mutation looks for help, and hope – GuelphMercury.com

Tuesday, March 10th, 2020

"I walked into the geneticist's office, and she, with tears in her eyes, asked me how Riana's walking was doing, and she told me that (she) would lose her mobility, that she's been diagnosed with a really rare gene disorder: KCNB1," Francisco said.

"I think I blacked out after that. Nothing registered, literally."

Later, Francisco said she would remember being relieved that they knew what the problem was. Later still, even that small comfort would evaporate, as she realized how little was known about her daughter's newly-named disorder.

Renzo Guerrini is a professor of neuroscience at the University of Florence, Italy, and a leading expert in the study of epilepsy.

Reached by phone in Florence, he said KCNB1 is caused by a genetic mutation, and can be considered a spectrum disorder meaning that symptoms exist on a spectrum and can be more or less severe, depending on the person.

However, there are some common symptoms among the 70 patient-cases he's studied.

"All patients have developmental delay, and about 85 per cent also have epilepsy," he said.

In Riana Faith's case, she's also limited in how she can communicate. While she speaks a few words here and there, like asking for "bubbles" to play with, or demanding a "kiss" from mom, she also relies on a tablet-talker to help express herself. For instance, if asked what colour red was, she could point to a red object. But when asked what colour a red object was, she would say purple. With the tablet, she could press a button that would say "red" for her.

"That's a major feature which has been underlined,"Guerrini said. "About 50 per cent do not develop any language. They are non-verbal," he said, adding that all cases have a major language impairment of some kind.

Riana Faith is also extremely active. On a recent day home from school due to teacher strikes, the six-year-old bounced around the room, her attention careening from toys, to pens, to yogurt and whatever else she could grasp in the space of a few minutes.

She also loves to sing. Her mother calls her "the most patriotic girl ever" because she always tries to hum/sing along with "O Canada."

Ironically, some of the only time Riana Faith focuses is with the music blaring, the TV on in the background, while bouncing up and down dancing with her toy guitar and singing "we're gonna rock, rock, rock, rock, rock, and roll. Repetitively ..." Francisco said.

"I'm constantly apologizing."

As far as treatment is concerned, Guerrini said there isn't any specific treatment established for a KCNB1 diagnoses. Doctors have only known about the genetic mutation for about six years, and there isn't enough information to reach definitive conclusions.

"For example, in a centre like ours, which is one of the main centres in (Italy), we have seen seven cases," he said.

Likewise, Francisco says there are less than five cases in Canada, and she hasn't come across anyone focusing on KCNB1 research here.

So, while her doctors can try to treat symptoms, such as assigning medication for different types of seizures, there is no way to directly treat the disorder.

"And there's no indication that the behavioural problems, the language problems, can benefit from any specific program or type of approach," Guerrini said.

His recommendation for people with rare gene disorders is to take advantage of the internet, "start a club" where people with the diagnoses can share information, and get the word out about their struggle.

As someone struggling for answers, Francisco says she's already gone that route. Her daughter's story is posted to KCNB1.org, a website that tries to shed light on the disorder.

It was there the mother found comfort in reading stories from people with like experiences. For instance, other parents of children diagnosed with KCNB1 have said a complete loss of mobility may not be inevitable.

It was also in the KCNB1 community that she learned about an upcoming conference in Chicago, where Faith can get time with doctors specializing in her rare condition.

Francisco is hoping to raise $2,500 to cover the trip. You can click hereto be taken to her GoFundMe page.

Riana Faith might have everything she needs to be happy bubbles, some Splash'N Boots (a musical duo), maybe a pudding, if mom says it's OK. She's even been given a wish fund from the Guelph Wish Fund for Children, says executive director Sharon Rice.

But it's her mother who really stands to benefit from the Chicago trip.

"That's the thing, I don't want anyone to feel sorry for her. She is a very happy child. There's nothing I won't do for this kid," Francisco said.

"(In Chicago,) they're going to see our children, one-on-one. That, for me, I need."

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Mother of Guelph girl with 'rare' genetic mutation looks for help, and hope - GuelphMercury.com

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From Iceland COVID-19 In Iceland: deCODE Genetics Will Screen General Population For Virus – Reykjavk Grapevine

Tuesday, March 10th, 2020

Photo by

Magns Andersen

CEO of deCODE Genetics Kri Stefnsson (shown above) intends to screen the entire Icelandic population for COVID-19, of which there have been 60 confirmed cases at the time of this writing.

While almost all of these cases come from three flights returning from Italy and Austria, with the arrivals put in quarantine while testing is underway, the virus has unfortunately found its way into the general population.

Kris desire to screen the general population was not without controversy, as both the Data Protection Authority and the Scientific Ethics Committee initially believed Kri required a special permit in order to conduct the screening. However, Frttablai now reports that both bodies have reversed their position on the matter, as the screening is considered clinical work; not a scientific study.

In fact, a statement from deCODE emphasises that peoples personal data will not be permanently recorded nor put in the companys general knowledge bank. Rather, the purpose of the screening is meant to inform those who have symptoms whether or not they have COVID-19, in conjunction with the Directorate of Health, in order to assist already ongoing efforts.

This screening is expected to go forward within the next week.

Symptoms of COVID-19 include dry cough, fever, and aches in the bones. If you are worried you may have COVID-19, have been to any of the high-risk areas or in contact with anyone who has within the last 14 days, you are urged to call 1700 from an Icelandic phone number or +354 544 4113 from any other phone, where a health care professional will give you further information and guidance.

To prevent transmission or contact with the virus, the cardinal rule is to wash your hands frequently before eating and after touching common surfaces, and avoid touching your face. If you must sneeze or cough, do so into the crook of your elbow or into a tissue. It also naturally follows that you should avoid contact with sick people.

The Directorate of Health in fact has extensive information in English on COVID-19, including a handy FAQ.

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From Iceland COVID-19 In Iceland: deCODE Genetics Will Screen General Population For Virus - Reykjavk Grapevine

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March: Predicting educational achievement | News and features – University of Bristol

Tuesday, March 10th, 2020

Pupils' genetic data do not predict their educational outcomes with sufficient accuracy and shouldnt be used to design a genetically personalised curriculum or tailor teaching, according to a new University of Bristol study. The findings, which compared the genetic scores of 3,500 pupils with their exam results, are published in the journal eLife today [10 March].

Despite some claims that differences in pupils' genetic data could be used to 'personalise' their education or identify those who are likely to struggle or thrive at school, few studies have investigated how accurately genetic measures known as polygenic scores (which combine information from all genetic material across the entire genome) can predict future educational performance better than other measures of student aptitude.

To measure whether genetic data could predict a pupils achievement, researchers from the Bristol Medical School and the MRC Integrative Epidemiology Unit took genetic and educational data from 3,500 children in Bristols Children of the 90s study. They compared pupils polygenic scores with their educational exam results at ages 7, 11, 14 and 16.

Their analysis showed that while the genetic scores modestly predicted educational achievement at each age, these predictions were little better than using standard information known to predict educational outcomes, such as achievement at younger ages, parents educational attainment or family socioeconomic position.

Dr Tim Morris, the studys lead author and Senior Researcher Associate from Bristol Medical School, said: Our analysis shows that some pupils with a low polygenic score are very high performers at age 16. Some of those who would be predicted from their genes to be in the bottom 5% are actually in the top 5% of performers. This contradicts the notion that it is possible to accurately predict how well any one child will perform in education from their DNA.

At the population level, researchers found that children with higher polygenic scores, on average, had higher exam scores than those with lower polygenic scores. They add that polygenic scores can be informative for identifying group level differences, but they currently have no practical use for predicting individual educational performance or for personalised education.

Dr Morris added: Educational achievement is incredibly complex and influenced by a large range of factors including parental characteristics, family environment, personality, intelligence, genetics, teachers, peers and schools, and - often overlooked - chance or random events. This complexity will make it perhaps irresolvably difficult to accurately predict how well any one pupil will do from their DNA.

The best piece of information we currently have for predicting how well a pupil will perform is how well they did in school earlier in childhood. Where we don't know this, such as at the start of schooling, we can make better predictions about a pupils future educational performance by knowing how educated their parents are than by knowing their DNA.

The researchers conclude that genes are insufficient for reliably predicting educational achievement at an individual level. The study was funded by the Economic & Social Research Council [ESRC], the Medical Research Council [MRC] and the Wellcome Trust.

Paper

Can education be personalised using pupils genetic data? by Tim T Morris, Neil M Davies, and George Davey Smith in eLife

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Coronaviruss Genetics Hint at its Cryptic Spread in Communities – The Scientist

Sunday, March 8th, 2020

When Emma Hodcroft read that, seemingly out of nowhere, a rash of cases of the novel coronavirus had popped up in Britain in late January, she started collecting media reports on them, searching the articles for clues as to how it had moved to the island nation. Early reports suggested that a lone traveler from Singapore, who was unaware he was infected with virus, had visited a French chalet for a few days and had spread the virus to others at the ski resort. This intrigued Hodcroft, who is half British and a postdoctoral researcher in evolutionary biologist Richard Nehers lab at the University of Basel in Switzerland, where she uses genetics to study and track diseases. She took notes on the cases that were associated with the infected traveler. At first, there wasnt that much information and the story was simple, she tells The Scientist. But more and more cases kept appearing, and she found it hard to keep track of who had traveled to which country and when they were diagnosed.

Hodcroft decided to generate an infographic showing the connections between the traveler from Singapore and the other coronavirus cases emerging in Europe. I thought, Ill make an image and see if anyone else finds this useful, she says. She posted the image on Twitter, and somewhat unexpectedly, it got a lot of attention, she says. People were definitely really, really interested in this. So I kept that image updated over the next week or so. As she updated it, the graphic showed that at least 21 people were exposed to the virus at the ski resort the traveler from Singapore visited; 13 of those people ended up developing COVID-19, the disease caused by the virus. After shed finished the preliminary work, a colleague of Hodcroft saw it and suggested she write it up for publication. She posted the paper on February 26; the next day it appeared in Swiss Medical Weekly.

Hodcroft talked with The Scientist about the work, how its conclusions have been supported by genetic testing of viral strains from patients, and what it tells us about the spread of the virus, SARS-CoV-2, in other countries.

Emma Hodcroft: Firstly, that it seems like so many people [at least 13] could be infected by a single person. It seems like they were infected by the man who traveled from Singapore. So thats quite a lot of forward transmission on his part in a fairly short time period; he was only in France for about four days. Of course, this could be some unusual event that doesnt normally happen, but it lets us put an outer bound on what is possible even if it is not common.

The other thing thats surprising is that, according to the patient statement that he released, the focal patient never had any symptoms. In his own words, he never felt sick. So he did all of this transmission without ever having any indication that he was unwell or that he should be taking any precautions to modify his behavior. It tells us that some infections might be from people who never even know that theyre sick.

Text continues below infographic

Contact tracing showing the spread of SARS-CoV-2 in a particular cluster of patients in Europe.

EH: As far as we can tell, no one from this cluster had severe symptoms. It seems like some people did have some symptoms, but they were never serious. And thats also interesting because it shows that if we didn't know about this outbreak, its pretty likely that these people would have kind of written this off as a bad cold or the flu. None of them would have ended up going to hospital or significantly changing their behavior. And again, this indicates that it might be quite hard, and it is becoming quite hard, to contain this virus because some people don't feel very unwell, such that they would change their behavior or go for testing.

EH: In the US, from the information available, it still doesnt seem like the US has really ramped up testing. We dont know the number of tests that have been performed because its come down off of the CDC website, which is a little concerning. But at least the last reports that were given to us show the US was really lagging behind most countries in the number of tests that it had done.

A few days ago, the research group called the Seattle Flu Study, which is designed to take community samples from random people who have any kind of cough, runny nose, or cold-like symptoms and look for the fluthey pivoted and started testing some of the samples for coronavirus. They found a case in the Seattle area and sequenced the viral genome of the infected person [posted on NextStrain] and showed it links very closely with another case in the Seattle area thats from mid-January. And so this strongly suggests (though we dont yet know for certain) that there has been ongoing undetected transmission in Seattle since mid-January and wasnt picked up because we werent looking for it. This has become clearer in the last few days, as more cases and even deaths have been reported in Washington State. That tells us the virus hasnt just appeared in the last few days in the area.

Text continues below graphic

The viral genome of the first case in Washington (USA/WA1/2020) is identical to Fujian/8/2020. The genome of the virus from a second case in Washington (USA/WA2/2020) is identical to the first Washington case, except it has three additional mutations. This suggests WA1 was a traveler from China bringing the virus to Snohomish County, Washington in mid-January, where the virus circulated undetected for about five weeks, a timespan that explains why WA2 is so similar genetically, with a few mutations. The graphic shows the connection to the other cases with viral sequences now available.

EH: This virus causes respiratory illness, which can make you feel unwell for a few days and then you get better or it can progress. If the illness progresses it can cause lung damage that makes the person more susceptible to other illnesses, such as bacterial infection. This can be treated too and for many people that treatment turns the course of the infection, but some dont and the effort can essentially delay their death. So the infection may have occurred weeks [before a person dies]. This is not something intrinsic to this virus, however. With respiratory illness, its usually something that takes a substantial amount of infection and lung damage before you succumb to it.

EH: Sequencing can tell us a lot about what is happening with the virus right now. The Washington samples are a perfect example. . . . Without having these genomes, we never would have seen this signal of ongoing transmission, which we saw just before the case explosion in Washington. And on the flip side we can tell when cases are coming in from other countries. We have another genome from Washington State thats grouping with genomes that we know have a travel history to Italyso it seems like this could be a case where [an infected person] came back from Italy.

When you have a very small number of cases of a disease, you can do this just through epidemiological contact tracing: you can go to everyone and ask questions and find out the connections between the cases. As the case numbers scale up, this becomes very hard to do. With genetic sequencing, we can do this without having to go and try and figure out where everyone was at the time of infection. Weve had an influx of sequences from Brazil, Switzerland, Mexico, Scotland, Germany. These have clustered with sequences from Italy and have a travel history from Italy and so from that we can show that Italy really is now exporting cases around the world to multiple countries.

EH:Theres been a lot of modeling, not only with genetics but epidemiologically in the last few weeks, and we had pretty strong indications that circulation was wider than publicly thought. At the time, we did try to some extent to get this message out to government health agencies and the public in general. I do think that in the future, incorporating a little bit more of that scientific expertise perhaps into the public dialogue and government decision-making could make a big difference. The earlier that you can act in an epidemic, you have more effect you can have, because one person goes on to infect a few more people who go on to infect a few more people. Its much harder once that has gone up to 10 [infected] people, than if you can stop with person one.

One thing I would note is that studies have shown that limiting transportation really doesnt make much of an impact for outbreaks. Quarantining particular cities, if they seem to be epicenters, can work as a preventive measure, but as the epidemic scales up, you move past being able to contain it in this sense, [and] what you end up doing is just disrupting supply routes, interrupting business, making all of these things much harder.

Editors note: This interview has been edited for brevity.

Ashley Yeager is an associate editor atThe Scientist. Email her at ayeager@the-scientist.com. Follow her on Twitter @AshleyJYeager.

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Genetic analysis suggests coronavirus infections double every six days, spreading to hundreds – GeekWire

Sunday, March 8th, 2020

Trevor Bedford, a researcher at Seattles Fred Hutchinson Cancer Research Center, discusses how genome sequencing is being used to track the spread of the COVID-19 coronavirus at the American Association for the Advancement of Sciences annual meeting. (Fred Hutch News Service Photo / Natalie Myers)

An evolutionary analysis based on the genome sequences of COVID-19 coronavirus samples taken from patients in the Seattle area suggests that the number of infections doubles roughly every six days, which translates into hundreds of infections over the course of the past six weeks.

So far, 18 cases have been confirmed in Western Washington, including 14 in King County and four in Snohomish County, north of Seattle. As of today, five patients have died four in King County and one in Snohomish County.

But the analysis laid out in a series of tweets from Trevor Bedford, a researcher at Seattles Fred Hutchinson Cancer Research Center who specializes in the study of viral dynamics, concludes that many more people are likely to be part of a chain of infections leading from the first patient in the U.S. to be diagnosed with the virus. Some probably passed along the virus even though they didnt know they were infected a phenomenon known as cryptic transmission.

Depending on how the computer modeling is tweaked, as many as 1,500 people may have picked up the virus through the transmission chain that began with the patient known as WA1, who traveled from the Chinese city of Wuhan to Snohomish County in mid-January.

There will be more in the whole state, Bedford wrote. He said he suspected that the Seattle areas current coronavirus situation is similar to what the situation was in Wuhan around Jan. 1, when the spread of the infection was beginning to pick up steam. Three weeks later, Wuhan had thousands of infections and was put in large-scale lockdown, Bedford wrote today in a blog post that supplemented his tweets.

Bedfords conclusions are based on a close comparison of viral genome sequences from WA1 and another Snohomish County patient known as WA2, leading to an assessment of where they fit on the broader evolutionary tree for the virus.

The two sequences are similar, but patterns of variation in the genetic code can indicate how much that code has changed in the course of transmission.

The virus from WA1 was sampled on Jan. 19, and the virus from WA2 was sampled on Feb. 28, The viruses genetic codes were sequenced by the research team behind the Seattle Flu Study and shared publicly to the worldwide GISAID database for pathogenic viruses. That allowed Bedford to reconstruct how the coronavirus evolutionary tree spread out over the course of those six weeks.

In todays tweetstorm, Bedford said WA1s case appears to have been the start of a transmission chain leading to WA2. This suggests that the case WA1 infected someone who was missed by surveillance due to mild symptoms, and a transmission chain was initiated at this point in mid-January, he wrote.

The transmission chain that went through WA2 wasnt picked up, probably due to the fact that until last week, the testing effort was focused on sick people who were traveling directly from China or who were in direct contact with a known case.

This lack of testing was a critical error, and allowed an outbreak in Snohomish County and surroundings to grow to a sizable problem before it was even detected, Bedford wrote in todays blog post.

Bedford emphasized that his analysis, conducted in partnership with epidemiologist Mike Famulare of the Institute for Disease Modeling, was still preliminary. Weve reached out to Fred Hutch for more information about the analysis.

The preliminary conclusions emphasize the importance of taking steps to reduce the spread of the virus: washing hands often, making an effort to avoid touching your face, staying home if youre sick, and avoiding close contact with sick people.

Heres todays full series of tweets from Bedford:

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Genetic analysis suggests coronavirus infections double every six days, spreading to hundreds - GeekWire

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Some good coronavirus news: genetic detectives are on the case – The Boston Globe

Sunday, March 8th, 2020

With new cases and clusters of the Covid-19 illness in the news every day, along with canceled events, closed workplaces, and shortages of hand sanitizer, it can feel like were already losing the fight against this outbreak. But in some ways, scientists are better equipped than ever before to follow and understand the new virus.

Were really at a very exciting time right now, says Emma Hodcroft, a molecular epidemiologist at the University of Basel in Switzerland. Unlike traditional epidemiologists, who monitor when and where sick patients show up, molecular epidemiologists can track disease by monitoring the genes in the virus itself.

Hodcroft is part of the team behind Nextstrain, an open, online platform that detects how diseases are evolving in real time. The team has worked on viruses including influenza, Zika, and Ebola. In recent months, theyve pivoted to studying the new coronavirus that causes Covid-19.

These scientists rely on the fact that viruses, like any living thing, pick up random mutations in their genes sometimes as simple as a change in one letter of the genetic code as they proliferate over generations. The new coronavirus carries its genetic code in RNA rather than DNA as humans and most other organisms do. RNA viruses mutate at an especially high rate, which makes them nimble at evolving and adapting. But that also helps scientific detectives track them.

From a swab of a Covid-19 patients nose, scientists can quickly sequence the entire 30,000-letter genome of the virus infecting that patient, according to Trevor Bedford, a scientist at the Fred Hutchinson Cancer Research Center in Seattle and one of Nexstrains developers. We can use these sequences to reconstruct which infection is connected to which infection, Bedford wrote in a blog post. By building a family tree of viruses, scientists can deduce what the disease has been doing behind the scenes.

For example, the first known Covid-19 patient in this country was a traveler who returned to Washington State from Wuhan, China, in mid-January. Tests for the virus werent widely available then. But at the end of February, scientists with the Seattle Flu Study began looking for the coronavirus in samples from people whod been tested for influenza. They soon found it in a high school student who hadnt been to China.

The genes of the students virus were nearly identical to the genes in the virus of the first Washington patient, with a few new mutations. That suggested the students infection was a direct descendant like a viral grandchild of that first patients. The most likely explanation, Bedford writes, is that the coronavirus had been quietly circulating in the Seattle area for the intervening five weeks and infecting hundreds of people.

Understanding how the disease is moving can help public health officials fight it strategically. For example, the genes of viruses in several other countries match samples from Italy, suggesting travelers to Italy are bringing the virus back home. Hodcroft says thats true of most cases in Switzerland so far. It means the disease might be contained in Switzerland by isolating those people and their close contacts. But in Seattle, if the virus has been spreading in secret, it makes sense for the whole population to take preventive steps like avoiding large gatherings.

Recent technological advances have made this kind of rapid detective work possible. High-quality genetic sequencing has gotten faster, cheaper, and more readily available in recent years. Computing power has increased, too.

The other critical development, Hodcroft says, is not a technological advance but a cultural one. Instead of saving their data for future peer-reviewed publications, scientists are now freely sharing information with each other. Researchers worldwide are posting coronavirus genome sequences to GISAID, an open-access platform created for influenza. On a forum called Virological, scientists are sharing and discussing their own analyses of coronavirus genetic data. Researchers at Johns Hopkins University are pooling up-to-the-minute case numbers at a freely available online dashboard.

Hodcroft says this level of data sharing is like nothing thats happened before. We have never had, in any kind of outbreak, so much information at such a relatively early stage. And that puts us humans in a unique position against our latest viral foe, she says. We really have an unprecedented ability to harness all of this and use it in ways that we couldnt have imagined a few years ago.

Elizabeth Preston is a science writer in the Boston area.

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Genetic testing is helping prevent cancer and changing treatment plans – PhillyVoice.com

Sunday, March 8th, 2020

It is a truth universally acknowledged that cancer prevention and early cancer detection saves lives.

As scientists and physicians at the major cancer centers work together to unravel the link betweengenetic alterations and cancer risk, genetic testing is rapidly becoming an impactful tool for matching patients to individualized cancer screening programs.

Often called the Angelina Jolie effect based on the actor'slaudable effort to enhance understanding of increased cancer risk for patients with alterations in the BRCA1 or BRCA2 genes the general public has become appropriately more aware of the importance that genetics can play in cancer risk.

Put most simply, genetic testing utilizes DNA usually obtained from small amounts of saliva or blood to identify a genetic mutation, or change, in your DNA that may increase your risk of developing certain cancers. This is determined by sequencing the DNA, which reads the specific DNA code for a subset of genes known to be important for affecting cancer development.

Individuals with a strong family history of cancer or those of a certain ancestry, such as Ashkenazi Jewish ancestry, might be more likely to carry these genetic mutations, but lack of a family cancer history does not mean that someone wont be a carrier. In many cases, genetic risk of cancer arises spontaneously through DNA errors that occur in developing embryos. In other words, genetic risk can result from a spot of ill-timed bad luck, on or before your journey began at the single cell stage.

Being aware that you have a genetic mutation that might increase your risk of developing cancer can help you and your doctor work together and create a personalized plan to help increase your chance of prevention or early detection.

For a man carrying specific alterations in the BRCA2 gene, there may be concern for increased risk of prostate or pancreatic cancer development. The team approach is then taken. After meeting with a genetic counselor, a personalized plan for that patient may entail earlier or more frequent prostate cancer screening, and support for helping the patient change behaviors that may further enhance pancreatic cancer risk, like smoking.

At the Sidney Kimmel Cancer Center at Jefferson, the Mens Genetic Risk centralizes these plans, and coordinates with the patients care team to tailor the individual health plan. Further discussions are also had with regard to cascade testing, or testing family members who may also be at risk. As such, genetic testing can impact not just the patient themselves, but family members as well.

Genetic testing might be recommended to someone if they have a strong family history of cancer, which may include several first-degree relatives parents, siblings and children with cancer; many relatives with the same type of cancer; relatives who were diagnosed at a younger-than-normal age; or a relative diagnosed with a rare cancer, such as a male with breast cancer.

Someone who has already been diagnosed with cancer may benefit from genetic testing as well, especially if they were diagnosed at a young age or have a family history of cancer. Cancers with a known hereditary component include breast, ovarian, uterine, prostate, colorectal, melanoma, pancreatic and stomach cancers.

Having a family history of cancer is not limited to a having a family history of thesamecancer. For example, and related to our case above, a man whose mother or sister had breast cancer might be at risk himself for prostate cancer.

It is also important to note that the presence of a gene mutation is also relevant when treating existing cancer. Certain genetic mutations are also associated with a greater risk of having an aggressive cancer and resistance to certain therapies, which can help your doctor manage specific tumor types.

Your results may help your doctor decide on the best treatment regimen, because researchers have found that some treatments are more effective in people with certain gene mutations. In fact, the FDA has recently approved cancer therapies that are only for patients whose tumors have specific gene alterations and it is expected that many more such targeted therapies will be approved and ready for use in treating cancer.

So what if you have been tested and you do not have an identified genetic risk? It is important to note that not having a family history of cancer or genetic risk of cancer does not guarantee that you will never develop cancer. With regard to family history, the National Cancer Institute notes that only 5-10% of cancers are due to inherited gene mutations.

Additionally, having a family history of cancer does not mean that you are certain to be diagnosed with cancer one day yourself. Genetic testing can help inform you of your genetic risk for certain diseases, but it does not inform you of your overall risk. Other factors that contribute to an increased risk for cancer include environmental factors and lifestyle choices, many of which are modifiable.

If you are considering genetic testing or have questions about whether you or your family should undergo testing, talk to your doctor or other health care providers. Talking to a health professional or genetic counselor can help you decide whether you would benefit from testing. They will collect your family and personal health history, explain what kind of information the test can provide you, and help you decide whether the test is right for you.

After undergoing genetic testing, it is important that you talk to your health care provider about what the results mean for you, whether positive or negative. The results can be confusing, and they can help you interpret your results, allay any fears, discuss potential implications for your family, and help you make an informed decision about how to proceed based on the results. Discussion with a specialist is important for future care decisions.

If appropriate, your doctor may discuss cancer risk-reduction strategies with you, like preventive surgery, medications that help reduce risk or lifestyle changes. They also may recommend alternative screening options to help detect the cancer early, such as beginning mammograms before age 40 or having a colonoscopy at 45 rather than 50.

In addition to the clinical genetic testing, a growing number of companies are making tests available to consumers that can provide insight into ones ancestry, as well as certain health information. There are a few things to keep in mind regarding these direct-to-consumer tests if you decide to go ahead with one.

Ancestry DNA tests are typically not clinical grade, meaning that the information is not of the established quality required to change someones health plan. Even if a cancer gene is suspected on these tests, confirmation would be required using a clinical-grade test that has been deemed valid and reliable for detecting cancer gene alterations.

In addition, many at-home tests are very small in scale, and leave out testing of many genes known to be influential in determining cancer risk. For example, an at-home test might screen for mutations in the BRCA1 and BRCA1 genes, but not for the genes associated with Lynch syndrome, an inherited disorder that increases the risk of several cancer types, including colorectal cancer.

There is a growing concern that negative results from an at-home test can provide consumers with a false sense of security. These tests should not be used as a substitute for the genetic counseling and testing you would receive from your health care provider, who will usually re-order a clinical test to confirm the results, and help you understand the results of the test.

Despite the importance of understanding personal genetic risk of cancer, there are justifiable concerns about privacy. This is an important concept for every person to consider. The Health Insurance Portability and Accountability Act protects your genetic data if you were tested through your health care provider. However, there are fewer protections with the direct-to-consumer DNA testing companies, so be sure to understand the companys privacy policy when signing up for services. Some companies may share your results with third parties, such as medical or pharmaceutical researchers.

A common concern for people considering genetic testing is discrimination based on their genetics. The Genetic Information Nondiscrimination Act is a federal law that protects individuals from genetic discrimination. GINA prohibits health insurers from discrimination based on the genetic information of enrollees, meaning they may not use genetic information to make decisions regarding eligibility, coverage, underwriting or premium-setting. However, GINA does not cover disability, life and long-term care insurance.

GINA also prevents employers who have at least 15 employees from using genetic information in employment decisions such as hiring, firing, promotions, pay and job assignments. Additionally, some states have enacted laws that offer additional protections against genetic discrimination. For more information on GINA and genetic discrimination, click here

In sum, cancer genetics is a rapidly evolving field, and the era is upon us wherein individual wellness plans will be as guided by genetic information as they are by vital signs. It was not long ago when the only genetic testing option was examining the BRCA1 and BRCA2 genes for inherited mutations associated with breast and ovarian cancers.

Fast-forwarding to 2020, we not only understand more about BRCA mutations, but we have discovered that there are many hundreds of other genes related to cancer development and progression. If you had BRCA testing many years ago or were told previously that you were ineligible for genetic testing, talk to your doctor.

As we learn more about genetic mutations and we continue to expand the recommendations for testing to include more people, your doctor might recommend that you undergo genetic testing now or consider additional genetic testing. Understanding your genetic code just might be a life saver!

Karen E. Knudsen, Ph.D., enterprise director at the Sidney Kimmel Cancer Center Jefferson Health, oversees cancer care and cancer research at all SKCC sites in the Greater Philadelphia region. She writes occasionally on topics related to cancer.

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40-year-old cold case solved with new genetic genealogy technology – The Denver Channel

Sunday, March 8th, 2020

It was January of 1980 when 21-year-old Helene Pruszynski was kidnapped, raped and murdered in Douglas County, Colorado. Her body was found in a field, but police never identified a suspect. Pruszynskis murder became a cold case.

We consider a case that does not have any viable leads after one to two years a cold case, cold case detective Shannon Jensen said.

However, Jensen says the case was never forgotten. Detectives continued to re-open it for 40 years. Then, with the help of new DNA technology, the suspect was identified in December of last year as James Curtis Clanton. He will be sentenced on April 10, based on the first-degree murder laws in 1980.

Pruszynskis sister the only immediate family still living finally received the closure she had waited decades for.

She had told us that she thought that this may never be solved, and she had somewhat given up on her hope. And she couldnt believe that after all these years we were able to identify and arrest a suspect in her sisters murder, Detective Jensen said.

One key element to solving the case was DNA from people related to Clanton.

Detective Jensen actively searched a public database called GEDmatch, which is used as a way for people to learn more about their family history. She came across Rob Diehl, who turned out to be Clanton's fourth cousin. When Detective Jensen reached out, he says he went through a wide range of emotions.

However, Diehl says it didnt take long for him to realize he wanted to help, especially when he discovered how serious the crime was. He says because Clanton was such a distant cousin, they never knew each other.

You just think its been cold for decades and so long that if theres no evidence now, this isnt going to be solved for the family or to bring somebody to justice, Diehl said.

So Diehl gave Detective Jensen access to his family tree and his DNA. Those both are critical elements in a newly utilized DNA technology called genetic genealogy.

Traditional genealogy is using public records to document a persons family tree and their ancestors. Genetic genealogy is when youre using DNA to help with that process, Chief Genetic Genealogist CeCe Moore said.

CeCe Moore is the Chief Genetic Genealogist at Parabon Nanolabs. Parabon assisted with Ms. Pruszynskis case, and the tech company has helped law enforcement across the nation identify more than 100 criminals the past two years.

"For us, significant amounts of DNA could be less than one percent, which is really a breakthrough because previously with law enforcement cases, you needed to have an exact match, or a very close family member, Moore said.

In Pruszynskis case, law enforcement in 1980 collected plenty of DNA evidence, and stored it properly making it possible for detectives today to upload a DNA profile to find her killer. In fact, Detective Jensen says shes currently in the process of solving two more cold cases.

This technology has given detectives like myself another tool to add to our toolbox. Its given new life to cases that we once thought might have been unsolvable, Detective Jensen said.

Not only is this technology finding those responsible for crimes, but its also ruling out the innocent.

If genetic genealogy is used earlier in the process, it can really help avoid hundreds or even thousands of innocent people who are looked at as persons of interest in these cases, Moore said.

Moore says 30 million people have uploaded their DNA to genetic websites the past decade. However, in order for law enforcement to gain access to it, you would need to upload your DNA to a public database like GEDmatch, and opt in for law enforcement to see your profile.

If you have done a DNA kit, or youre thinking about doing a DNA kit on ancestry or 23andMe or My Heritage, download that raw DNA data file and upload it to GEDMatch because everyone can be a crime solver, Detective Jensen said.

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Gene sleuths are tracking the coronavirus outbreak as it happens – MIT Technology Review

Sunday, March 8th, 2020

In the unprecedented outbreak of a new coronavirus sweeping the world, the germs genetic material may ultimately tell the story not just of where it came from, but of how it spread and how efforts to contain it failed.

By tracking mutations to the virus as it spreads, scientists are creating a family tree in nearly real time, which they say can help pinpoint how the infection is hopping between countries.

When scientists in Brazil confirmed that countrys first case of coronavirus late in February, they were quick to sequence the germs genetic code and compare it with over 150 sequences already posted online, many from China.

The patient, a 61-year-old from So Paulo, had traveled in Italys northern Lombardy region that month, so Italy was likely where he acquired the infection. But the sequence of his virus suggested a more complex story, linking his illness back to a sick passenger from China and an outbreak in Germany.

As a virus spreads, it mutates, developing random changes in single genetic letters in its genome. By tracking those changes, scientists can trace its evolution and learn which cases are most closely related. The latest maps already show dozens of branching events.

The data is being tracked on a website called Nextstrain, an open-source effort to harness the scientific and public health potential of pathogen genome data. Because scientists are posting data so quickly, this is the first outbreak in which a germs evolution and spread have been tracked in so much detail, and almost in real time.

nextstrain.org

The work of the genome sleuths is helping show where containment measures have failed. It also makes clear that countries have faced multiple introductions of the virus, not just one. Eventually, genetic data could pinpoint the original source of the outbreak.

In Brazil, researchers were able to use gene data to show that its first case, and a second one found later, were not very closely related, says Nuno Faria at the University of Oxford. Samples of the virus from the two patients had enough differences to indicate that they must have been acquired in different locations.

When combined with the patient travel information, this indicates that the two confirmed cases in Brazil are the result of separate introductions to the country, Faria wrote in a discussion of his findings.

Faria Lab

Since there is no vaccine, experts say the best chance of stopping the virus is through aggressive public health measures, like finding and isolating people whove been exposed.

And thats where the viruss evolutionary tree is useful, helping to trace the spread of the germ and detect where containment is and isnt working.

The genetic data shows that the virus entered Europe multiple times. It also now suggests that an outbreak in Munich in January, which researchers believed was caught early, might not have been successfully contained.

Since February 1, about a fourth of new infectionsin Mexico, Finland, Scotland, and Italy as well as the first case in Brazilappeared genetically similar to the Munich cluster, says Trevor Bedford, a researcher at the Fred Hutchinson Cancer Research Center and one of the creators of Nextstrain.

Patient 1 of the Munich branch was a 33-year-old German businessman from Bavaria who became sick with a sore throat and chills on January 24. Investigators say before feeling ill he'd met with a Chinese business partner visiting from Shanghai, who herself later tested positive for the virus.

Within four days, more employees of the company, Webasto, tested positive. Although the company closed its headquarters, it wasnt enough. According to the genetic data, the Munich event could be linked to a decent part of the overall European outbreak, which includes more than 3,000 cases in Italy.

An extremely important take home message here is that just because a cluster has been identified and contained doesnt actually mean this case did not seed a transmission chain that went undetected until it grew to be [a] sizable outbreak, Bedford posted to Twitter.

Thats exactly what viral detectives think may have happened in Washington State in the US, where a first case was discovered nearly six weeks ago. In February, though, when they sequenced the virus from a new case, they found it shared a specific mutation with the first one.

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That meant the two were related and the virus had been silently spreading inside the US all along. Since then, Washington has reported 27 cases and nine deaths, including people who died earlier without being properly diagnosed.

In the wake of the Washington outbreak, critics have blamed the US Centers for Disease Control and Prevention for limiting who could get tested, effectively blinding experts to the course of the outbreak.

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A Sea Monsters Genome Full Genetic Sequence of the Elusive Giant Squid – SciTechDaily

Sunday, March 8th, 2020

By University of Copenhagen The Faculty of Health and Medical SciencesMarch 7, 2020

These are giant squid sucker rings. Credit: The Trustees of the Natural History Museum, London

The giant squid is an elusive giant, but its secrets are about to be revealed. A new study led by the University of Copenhagen has sequenced the creatures entire genome, offering an opportunity to throw some light on its life in the depths of the sea.

Sailors yarns about the Kraken, a giant sea-monster lurking in the abyss, may have an element of truth.

Our initial genetic analysis generated more questions than it answered. Professor Tom Gilbert

In 1857, the Danish naturalist Japetus Steenstrup linked the tell tales of ships being dragged to the ocean floor to the existence of the giant squid: A ten-armed invertebrate, that is credibly believed to grow up to 13 meters and weigh over 900 kg.

Now, more than 160 years later, an international team of scientists have sequenced and annotated the genome of a giant squid.

These new results may unlock several pending evolutionary questions regarding this mantled species, says the research leader, Associate Professor Rute da Fonseca from the Center for Macroecology, Evolution and Climate (CMEC) at the Globe Institute of the University of Copenhagen.

Throughout the years only relatively few remains of giant squids or, Architeuthis dux have been collected around the world.

Scale of size between human and giant squid. Credit: University of Copenhagen

Using mitochondrial DNA sequences from such samples, researchers at the University of Copenhagen have previously confirmed that all giant squids belong to a single species.

However, our initial genetic analysis generated more questions than it answered, says Professor Tom Gilbert of the GLOBE Institute, who was part of the previous work on the giant creature.

These new results may unlock several pending evolutionary questions regarding this mantled species. Associate Professor Rute da Fonseca

Producing a high-quality genome assembly for the giant squid proved as challenging as spotting one of these animals in their natural environment.

This was, however, an important effort as the genome is the ultimate toolkit available to an organism.

The challenges in the lab started with the fact that available samples originate from decomposing animals, usually preserved in formalin or ethanol at museums around the world.

This means that most of them cannot be used to obtain the high-quality DNA necessary for a good genome assembly.

This project reminds us that there are a lot of species out there that require individually optimized laboratory and bioinformatics procedures. Associate Professor Rute da Fonseca

Furthermore, elevated levels of ammonia and polysaccharides in the tissues were likely the behind repeated failures in producing suitable libraries for nearly all available sequencing technologies.

This project reminds us that there are a lot of species out there that require individually optimized laboratory and bioinformatics procedures. An effort that is sometimes underestimated when designing single-pipeline approaches in large genome-sequencing consortia, says Rute da Fonseca, who started leading the project when working as an Assistant Professor at the Department of Biology in the University of Copenhagen.

Despite the many challenges, the research group managed to get hold of a freshly frozen tissue sample of a giant squid collected by a fishing vessel near New Zealand. An incredible stroke of luck, according to the research leader.

Left: Giant squid specimen kept at the Darwin Center Tank Room at the Natural History Museum, London. Right: The same individual being measured prior to fixation. Credit: The Trustees of the Natural History Museum, London

Using this sample, the researchers were able to produce the currently best available cephalopod genome.

This genomic draft provides for a unique possibility to address many emerging questions of cephalopod genome evolution, the researchers behind the study explain.

By allowing the comparison of the giant squid with the genomes of better-known types of cephalopods, scientists now hope to discover more about the mysterious giant creatures without necessarily having to catch or observe them in the depths of up to 1200 meters that they inhabit.

For example, the new genomic data might allow scientists to explore the genetic underpinnings of the giant squids size, growth rate, and age.

Read Revealed: The Mysterious, Legendary Giant Squids Genome for more on this research.

Reference: A draft genome sequence of the elusive giant squid, Architeuthis dux by Rute R da Fonseca, Alvarina Couto, Andre M Machado, Brona Brejova, Carolin B Albertin, Filipe Silva, Paul Gardner, Tobias Baril, Alex Hayward, Alexandre Campos, ngela M Ribeiro, Inigo Barrio-Hernandez, Henk-Jan Hoving, Ricardo Tafur-Jimenez, Chong Chu, Barbara Frazo, Bent Petersen, Fernando Pealoza, Francesco Musacchia, Graham C Alexander, Jr, Hugo Osrio, Inger Winkelmann, Oleg Simakov, Simon Rasmussen, M Ziaur Rahman, Davide Pisani, Jakob Vinther, Erich Jarvis, Guojie Zhang, Jan M Strugnell, L Filipe C Castro, Olivier Fedrigo, Mateus Patricio, Qiye Li, Sara Rocha, Agostinho Antunes, Yufeng Wu, Bin Ma, Remo Sanges, Tomas Vinar, Blagoy Blagoev, Thomas Sicheritz-Ponten, Rasmus Nielsen and M Thomas P Gilbert, 16 January 2020, GigaScience.DOI: 10.1093/gigascience/giz152

Aside from the University of Copenhagen (Denmark), the collaborating scientists come from several universities around the world.

The Villum Fonden, Marie Curie Actions, and the Portuguese Science Foundation (FCT) have supported the research project, among others.

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Seattle Genetics Announces Cancellation of Presentation and Webcast at the Cowen 40th Annual Healthcare Conference – Yahoo Finance

Sunday, March 8th, 2020

Seattle Genetics, Inc. (Nasdaq:SGEN) announced today the cancellation of the Companys presentation and webcast at the Cowen 40th Annual Healthcare Conference on Tuesday, previously scheduled to take place on March 3, 2020 at 9:20 a.m. Eastern Time. Management will no longer be attending the conference as a precautionary measure related to travel amidst the evolving coronavirus situation.

About Seattle Genetics

Seattle Genetics, Inc. is a global biotechnology company that discovers, develops and commercializes transformative medicines targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) and PADCEV (enfortumab vedotin-ejfv) use the companys industry-leading antibody-drug conjugate (ADC) technology. ADCETRIS is approved in certain CD30-expressing lymphomas, and PADCEV is approved in certain metastatic urothelial cancers. In addition, investigational agent tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. The company is headquartered in Bothell, Washington, and has offices in California, Switzerland and the European Union. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200302005307/en/

Contacts

Investors:Peggy Pinkston(425) 527-4160ppinkston@seagen.com

Media:Monique Greer(425) 527-4641mgreer@seagen.com

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Migration is increasing regional differences in genetic factors associated with the ability to learn – PsyPost

Sunday, March 8th, 2020

Recent socio-economic migration within the United Kingdom has influenced the geographic distribution of human DNA linked to traits such as education levels and health, according to a new study published in Nature Human Behaviour.

We were interested in looking at the geographic distribution of human DNA. I have studied the geographic distribution of genetic ancestry differences before, but not yet the geographic distribution of the genetic predisposition to heritable traits and diseases, said lead author Abdel Abdellaoui of the University of Amsterdam.

UK Biobank provided a dataset that was large enough to have a look at this, so we did for more than 30 traits and diseases, including physical and mental health, personality, and educational attainment.

Drawing on data from 488,377 people of European descent surveyed for the UK Biobank, the researchers examined about 1.2 million genetic variants to calculate the polygenic scores an estimate of someones genetic predisposition for a certain characteristic for 33 measures related to economic, health and cultural outcomes. These included but were not limited to physical and mental health, religion, addiction, personality, BMI, reproduction, height and educational attainment.

The researchers found that 21 traits showed significant regional clustering on a genetic level after controlling for ancestry. The findings suggest that regional differences in educational attainment genes are the result of more recent selective migration within the country.

When looking at regional differences between genes for a wide range of traits, genes that are associated with educational attainment show the largest regional differences in Great Britain. These differences are increasing over time, as higher educated individuals leave the poorer regions of the country. These poorer regions show worse living circumstances than the rest of the country, which contributes to worse health outcomes in these regions, Abdellaoui told PsyPost.

The researchers noted that people tend to migrate to improve their skills or employment prospects. In the late nineteenth and early twentieth century, for example, many people left small farms to work industrial jobs in urban centers.

This study has scientific as well as societal implications. There are several widely used study designs that assume that genes are randomly distributed across geography, which we show is not the case. Also, we should take better care of the poorer regions of the country, since the poor living conditions there are causing these regions to have worse health outcomes and are driving talented people away, which is increasing genetic differences between poor and rich, Abdellaoui said.

Our research shows that people have polygenic scores that are more similar to their neighbours polygenic scores than to those of people who live far away. While some of this clustering could come from ancestral differences, we find some of it seems to have a more recent origin. And, when we look at how our subjects have moved during their lifetime, we can see that this clustering is increasing, added co-author David Hugh-Jones in a news release.

There are a few caveats, however. The genetic effects on educational attainment are difficult to quantify, because the genetic predisposition for lower education coincides with worse living conditions that also have a detrimental effect on educational outcomes. Within family studies may offer a solution for this, which is something we are currently working on, Abdellaoui explained.

The study, Genetic correlates of social stratification in Great Britain, was authored by Abdel Abdellaoui, David Hugh-Jones, Loic Yengo, Kathryn E. Kemper, Michel G. Nivard, Laura Veul, Yan Holtz, Brendan P. Zietsch, Timothy M. Frayling, Naomi R. Wray, Jian Yang, Karin J. H. Verweij, and Peter M. Visscher.

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She was sexually assaulted and killed in 1973. Now genetic genealogy identified a suspect. – ABC News

Friday, February 28th, 2020

February 28, 2020, 8:46 PM

6 min read

Over four decades after a woman was sexually assaulted and killed, a suspect has finally been identified through the new, but growing, investigative tool of genetic genealogy.

Naomi Sanders was found sexually assaulted and strangled to death on Feb. 27, 1973 inside her apartment in Vallejo, California, about 30 miles outside San Francisco.

Sanders, 57, lived alone and was the onsite manager for the apartment complex, the Vallejo Police Department said.

Naomi Sanders is seen in an undated photo released by the Vallejo Police Department with a release that an investigation into her 1973 murder has used genetic genealogy to lead them to a suspect.

But the years ticked by without progress in her case.

In 2014, forensic testing was completed on the clothes Sanders was wearing when she was killed, and analysts found a semen stain, said police.

A DNA profile was developed from the stain and entered into the law enforcement database Combined DNA Index System (CODIS) -- but there was no match, police said.

Detectives said they continued to run the DNA profile against new people when they were added to CODIS, still without a match.

In 2016, detectives tried familial DNA technology, which allowed them to search the California DNA database and wider DNA databases in other states for people related to the unknown suspect, police said. Again, they didn't get a hit.

Police said the break in the case finally came when authorities started to look into genetic genealogy in 2018.

Through genetic genealogy, an unknown killer's DNA left at a crime scene can be identified through his or her family members, who voluntarily submit their DNA to a genealogy database. This allows police to create a much larger family tree than using law enforcement databases like CODIS.

Genetic genealogy first came to light as an investigative tool in April 2018 when the suspected "Golden State Killer" was arrested through the technique. Since then, over 100 suspects have been identified through the technology, according to Parabon NanoLabs Chief Genetic Genealogist CeCe Moore, who worked on the Sanders case.

After working through the family tree of Sanders' unknown killer in April 2019, analysts were able to zero-in on two persons of interest, authorities said.

Detectives went to Louisiana in 2019 where they collected a discarded item from one of those persons of interest, police said. They tested the DNA from that item, but didn't get a match, so they eliminated the man as a suspect, police said.

That left police with the second person of interest -- who was dead and had been cremated, they said.

Authorities contacted one of his sons and collected his DNA, which determined that Sanders' suspected killer was Robert Dale Edwards, the Vallejo police announced Thursday.

Robert Dale Edwards is pictured in an undated image released by the Vallejo Police Department with a statement that they used DNA to established him as the suspect in the 1973 murder of Naomi Sanders in Vallejo, Calif. Edwards died in 1993.

Edwards was a 22-year-old living in Vallejo at the time of the crime, police said. Detectives learned that Edwards' father was a co-worker of Sanders, police said.

He had a criminal history, including attempted murder, assault and domestic violence, police said.

Edwards died in 1993 of a drug overdose, police said.

Sanders' family released a statement through the police department, saying so many relatives over the last 46 years "have also passed, and, unfortunately, they cannot be afforded the truth as to what happened."

"Those of us who do remember the stories of Naomi's life and untimely death can now feel closure thanks to the determination and teamwork of the Vallejo Police Department and partnering law enforcement agencies," the family said.

"May Naomi now rest in peace," her family said.

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She was sexually assaulted and killed in 1973. Now genetic genealogy identified a suspect. - ABC News

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Shared Genetic Variants Associated With Migraine and Multiple Sclerosis – Neurology Advisor

Friday, February 28th, 2020

WEST PALM BEACH, FL Migraine prevalence was significantly higher among patients with multiple sclerosis (MS) compared with healthy controls, with several genetic variants being shared between migraine and MS, according to research presented at the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) 2020 Forum held from February 27 to 29, 2020, in West Palm Beach, Florida. Several variants were found to increase migraine risk but decrease MS risk; these findings may lead to improvements in targeted treatments and therapies.

Although symptoms and risk factors for migraine and MS often overlap, and up to 69% of patients with MS suffer migraine, it is unknown whether these 2 disorders are independent or have a common biological etiology, such as genetics. The current study used data on 1094 patients with MS and 12,176 control participants who were Kaiser Permanente Northern California Health Plan members to investigate if any genetic variants independently associated with migraine or MS could be identified from genome-wide association studies that are shared between both conditions.

Migraine status was determined via self-report and validated electronic health record algorithm. Prior genome-wide association studies of MS or migraine were used to identify variants, and after quality control, investigators analyzed 902 variants with minor allele frequency greater than 1%. Observed and permuted P for each phenotype were obtained from logistic regression and compared with identify variants associated with both phenotypes. Logistic regression models were adjusted for sex and ancestry among any variants that had significant associations with both phenotypes.

The migraine model was adjusted for a propensity score representing the probability of MS case-control status to account for potential ascertainment bias from obtaining a secondary phenotype from a case-control study.

Among the 1094 patients with MS, the mean age was 49.95 years old (SD=9.02) compared with 49.01 years old (SD=8.92) for controls. Women made up 79.98% of MS cases and 80.60% of controls. Median MS Severity Score was 3.21 (SD=2.43). Migraine incidence was significantly higher (P <.05) among MS cases (40%) compared with controls (29%). Preliminary results found 5 genetic variants (rs6677309, rs10801908, rs1335532, rs62420820, and rs17066096) that were significantly associated (P <.05) with both MS and migraine. Three of these were protective for MS (rs6677309, rs10801908, and rs1335532), and all variants increased odds of migraine.

Study investigators concluded, Results showed the prevalence of migraine was significantly higher among individuals with MS compared [with] healthy controls.Several genetic variants were shared between MS and migraine, and implicated genes include CD58, which modulates regulatory T-cells, and several immune genes (IL20RA, IL22RA2, IFNGR1 and TNFAIP3) within the 6q23 chromosomal region. Because several variants increase risk of migraine but decrease risk of MS, there may be implications for targeted therapies and treatments.

Visit Neurology Advisors conference section for continuous coverage from the ACTRIMS 2020 Forum.

Reference

Horton M, Robinson S, Shao X, et al. Discovery of shared genetic variants associated with multiple sclerosis and migraine. Presented at: 5th Annual Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) Forum; February 27-29, 2020; West Palm Beach, FL. Abstract P140.

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PECASE Honoree Sohini Ramachandran Studies the Genetic Foundations of Traits in Diverse Populations – Newswise

Friday, February 28th, 2020

Newswise Recent advances in computing enable researchers to explore the life sciences in ways that would have been impossible a few decades ago. One new tool is the ability to sequence genomes, revealing peoples full DNA blueprints. The collection of more and more genetic data allows researchers to compare the DNA of many people and observe variations, including those shared by people with a common ancestry.

Sohini Ramachandran, Ph.D., is director of the Center for Computational Molecular Biology and associate professor of biology and computer science at Brown University in Providence, Rhode Island. She is also a recent recipient of the Presidential Early Career Award for Scientists and Engineers (PECASE). Dr. Ramachandran researches the causes and consequences of human genetic variations using computer models. Starting with genomic data from living people, her lab applies statistical methods, mathematical modeling, and computer simulations to discover how human populations moved and changed genetically over time.

Sohini Ramachandran, Brown University. Credit: Danish Saroee/Swedish Collegium for Advanced Study.

Dr. Ramachandran and her team focus on further uncovering how the genetic architecture, or composition of traits, varies among people with different ancestries. Variations in the genetic composition of disease-causing genes can make individuals respond differently to the same therapy, and understanding these variations could help doctors recommend the best treatment for each patient.

Many of the large genome-wide association studies that have looked for the basis of traits or diseases have been in populations of European ancestry, with the assumption that their genetic architecture is the same across populations. However, this isnt necessarily the case. Most diseases are caused by the interaction of many genetic variants. As a result, people who have different ancestries and the same disease may share some disease-causing variants but have population-specific variants that also play a role in the disease.

Dr. Ramachandran is excited to bring her knowledge of human evolutionary histories into studying genetic variation to better understand and potentially treat diseases and to identify adaptive mutations. She says evolutionary histories can help researchers make sense of data from the genome-wide association studies used to investigate diseases, understand why results from these studies are often difficult to replicate, and determine if results apply only to certain populations. The genome-wide association studies have a lot of downstream effects because some of the results from these studies are affecting decisions that are being made in clinics, and its not clear if those results are relevant to everyone, she says.

For Dr. Ramachandran, receiving a PECASE highlights the importance of statistical and computational work in human genetics and disease and reinforces the value of including evolutionary biology in modern medical practices.

Dr. Ramachandrans research is supported in by part NIGMS grants R01GM118652 and P20GM109035.

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PECASE Honoree Sohini Ramachandran Studies the Genetic Foundations of Traits in Diverse Populations - Newswise

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Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. – PRNewswire

Friday, February 28th, 2020

SELBYVILLE, Del., Feb. 27, 2020 /PRNewswire/ -- Global Market Insights, Inc. has recently added a new report on genetic testing market which estimates the global market valuationfor genetic testing will cross US$ 28.5 billion by 2026. A growing demand for DTC genetic testing will drivemarket expansion over the forecast period. Genetic testing can project the risk of diseases, identify carriers and establish diagnoses. DTC genetic testing can help individuals identify ancestral origins and predisposition to certain illnesses. This can enable individuals to prepare or prevent the onset of certain diseases. Increasing awareness among people regarding their health will drive industry growth.

Growing adoption of genetic testing in oncology and genetic diseases in North America will propel the market expansion. Genetic testing to determine the probability of cancer and rare diseases helps in planning the treatment. Genetic testing helps in the formulation of the most effective treatment for cancer and other diseases. Hence, the growing application of genetic testing in cancer and genomic disorders will fuel the genetic testing market growth.

Requesta sample of this research report @https://www.gminsights.com/request-sample/detail/2490

Nutrigenomic testing was valued at USD 408.9 million in 2019 and will witness significant growth over the forecast period. Nutrigenomic testing determines how genetic variations change the individual reaction to nutrients. Nutrigenomic can assist with optimum nutritional planning. Rising incidence of obesity due to increased consumption of junk food and sedentary lifestyle will fuel the segment growth over the forecast period. Furthermore, growing awareness regarding customized diets will fuel market growth.

The cancer testing market held nearly 52% market share in 2019 and will exhibit robust growth in the forecast period. The growth can be attributed to the advancements in genetic testing that can confirm the diagnosis. Furthermore, genetic testing can help with the formulation of the most effective drugs for the treatment of cancer, improving patient outcomes. These factors will boost the growth of the cancer testing segment.

The European genetic testing market held a substantial value in 2019 and is poised to exhibit nearly 13% CAGR over the forecast period. The growing geriatric population will boostdemand for genetic testing in the region. Furthermore, presence of key market players in the region will positively impact the technology adoption. Additionally, favorable government initiatives to harmonize genetic testing and ensure accurate and reliable results will boost market growth.

Browse key industry insights spread across 146 pages with 138 market data tables & 8 figures & charts from the report, "Genetic Testing Market Share & Forecast, 2020 2026" in detail along with the table of contents:

https://www.gminsights.com/industry-analysis/genetic-testing-market

Some major findings of the genetic testing market report include:

Few notable players in the genetic testing market share are 23andME, Abbott Molecular, Bayer Diagnostics, Cepheid, Counsyl, PacBio, Illumina Inc., Qiagen, Roche Diagnostics, BioCartis, and Siemens. The market players are adopting strategies such as innovative product launches and acquisitions to expand their customer base and market share.

Make an inquiry for purchasing this report @https://www.gminsights.com/inquiry-before-buying/2490

Partial chapters of report table of contents (TOC):

Chapter 2. Executive Summary

2.1. Genetic testing industry 360synopsis, 2015 - 2026

2.1.1. Business trends

2.1.2. Test-type trends

2.1.3. Application trends

2.1.4. Regional trends

Chapter 3. Genetic Testing Industry Insights

3.1. Industry segmentation

3.2. Industry landscape, 2015 - 2026

3.3. Industry impact forces

3.3.1. Growth drivers

3.3.1.1. Physician adoption of genetic tests into clinical care

3.3.1.2. Technological advancements and availability of new tests

3.3.1.3. Growing application of genetic testing in oncology and genetic diseases in North America

3.3.1.4. Consumer interest in personalized medicines in Europe

3.3.1.5. Growing demand for direct-to-consumer genetic testing

3.3.2. Industry pitfalls & challenges

3.3.2.1. High costs of genetic testing

3.3.2.2. Dearth of experienced professionals and advanced infrastructure in developing and underdeveloped economies

3.4. Growth potential analysis

3.4.1. By test type

3.4.2. By application

3.5. Regulatory landscape

3.5.1. U.S.

3.5.2. Europe

3.6. Market share analysis, 2018

3.6.1. Market share analysis, by North America, 2018

3.6.2. Market share analysis, by Europe, 2018

3.6.3. Market share analysis, by Asia Pacific, 2018

3.6.4. Market share analysis, by Latin America, 2018

3.6.5. Market share analysis, by Middle East & Africa, 2018

3.7. Porter's analysis

3.8. Competitive landscape, 2018

3.8.1. Strategy dashboard

3.9. PESTEL analysis

About Global Market Insights

Global Market Insights, Inc., headquartered inDelaware, U.S., is a global market research and consulting service provider, offering syndicated and custom research reports along with growth consulting services. Our business intelligence and industry research reports offer clients with penetrative insights and actionable market data specially designed and presented to aid strategic decision making. These exhaustive reports are designed via a proprietary research methodology and are available for key industries such as chemicals, advanced materials, technology, renewable energy and biotechnology.

GMIPulse,our business analytics platformoffers an online, interactive option of exploring our proprietary industry research data in an easy-to-use and dynamic manner. Clients get to explore market intelligence across 11 top-level categories and hundreds of industry segments within them, covering regional, company level and cross-sectional statistics that make our offering a stand-out for decision-makers.

Contact Us:

Arun HegdeCorporate Sales, USAGlobal Market Insights, Inc.Phone:1-302-846-7766Toll Free:1-888-689-0688Email:sales@gminsights.com

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genetic-testing-market-size-will.jpg Genetic Testing Market size will exceed $28.5 Bn by 2026 Genetic Testing Market size slated to surpass USD 28.5 billion by 2026, according to a new research report by Global Market Insights, Inc.

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Direct-to-Consumer Genetic Testing Market

Prenatal and New-born Genetic Testing Market

SOURCE Global Market Insights, Inc.

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Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. - PRNewswire

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Q&A: ‘We can diagnose more than 4000 rare diseases but there’s still a long way to go’ – Horizon magazine

Friday, February 28th, 2020

IRDiRChad two goals to achieve by 2020: to contribute to the development of 200 new therapies - which you have exceeded and to facilitate the diagnosis of most rare diseases. How are you faring?

'We surpassed the goal for new therapies in 2016. There has been a great deal of progress in diagnosis too. In 2010 there was a genetic test available for 2,200 rare diseases, and by 2019 that figure was over 4,000. There is still some way to go.

'There are several thousand (rare diseases; more than 6,000 have been found so far), which seems really daunting. But we are in a new era of systems biology (which tries to understand the body as a whole) and international cooperation that is delivering great progress towards diagnosing and treating more and more of these diseases.'

Do most rare diseases have a genetic cause?

'Genetics is estimated to account for between 70% and 80% of all rare diseases. Those that are left dont yet have a name and have not yet been associated with a genetic variation (which would allow a diagnostic test), but often there is some family history that suggests they are genetic.

'There are also some rare infectious diseases, rare autoimmune diseases and rare cancers that are not genetic in origin. And these are trickier to diagnose.'

What exactly are we talking about when we say a disease is rare?

'There is a legal definition for rare diseases, but it is different depending on where you are in the world. A disease is considered rare in Europe if it affects fewer than one in 2,000 people. In the US, however, a rare disease is one that affects fewer than 200,000 people over the whole population. This means there is a subset of diseases close to the threshold that are considered rare in one country but not in another. But most rare diseases are a lot rarer than that. Some of the rarest affect just 10 in a million people. They are the rare among the rare.'

What difference can a diagnosis make to patients?

'Giving a name to a disease is a major step forward for patients and families, even if it doesnt bring an immediate benefit to their quality of life. From my personal experience here in Italy, we see families spend years on what is called the diagnostic odyssey, wandering from one hospital and test to another. Having a diagnosis allows them to close this page of their lives where they are in total darkness. And while there might not be a therapy available, the diagnosis can relate the disease to a group of other diseases where a standard of care is already available, such as using diet, physiotherapy and palliative care.

'It also has a social impact as it allows families to connect to others with similar problems, and they can share experiences with each other. One parent might find their child sleeps better if they do something with them before bed, or give them particular exercises. So, it brings improvements in everyday life. It also brings some hope of an end solution of a treatment or a cure, although many parents are realistic about how long this may take.'

How exactly are you helping more rare diseases to be diagnosed?

'There are two developments that have really accelerated the identification of genetic defects associated with rare diseases.

'The first is next generation sequencing, which allows large-scale genetic analysis to be done far more rapidly than it was before. The other is tools that allow the comparison of results from patients that live very far away. One of these, known as the Matchmaker Exchange, means that a clinical centre in Italy, for example, might associate a clinical manifestation with a genetic alteration through sequencing. But to prove it is the cause of the disease, they need to match the same genetic alteration to the same clinical manifestation in other patients. But those patients could be in Mexico or Japan. The Matchmaker Exchange allows data from patients in different parts of the world to be combined and so is accelerating the ability to confirm whether a certain disease is associated with a certain genetic defect.'

What challenges are there?

'At the moment, most of the analysis is done in parts of the genome that code for proteins, known as the exome, but that is only a small part of the DNA (about 1.5%). To find the genetic cause of all diseases (that have one) we need to look outside the exome, which is becoming possible now with whole genome sequencing.'

Some of the rarest (diseases) affect just 10 in a million people. They are the rare among the rare.

Dr Lucia Monaco, Chair, International Rare Diseases Research Consortium.

What about diseases that dont have a genetic cause?

'Some (rare diseases that are not genetic in origin) can be caused by errors as DNA is transcribed into RNA before producing proteins, or alterations in the proteins themselves. Diseases can also be caused by the metabolites produced in the cells by the action of enzymes, for example.

'Advances in the omics (the sciences that study all the cell metabolites, proteins or encoding instructions in the body) is making inroads here, particularly thanks to the computing systems able to handle the data involved, but nowhere near as much as we have with genomics (the first omics field to be developed).'

2020 was the target date for your last set of goals, so whats next?

'In 2017, the IRDiRC set a new goal of getting 1,000 new therapies approved for rare diseases by 2027. It has built three scientific committees that are working on therapies, diagnosis and interdisciplinary fields such as data sharing and sharing biological samples. Their job is to identify the strategic questions that need to be addressed, identify tools or make recommendations to health bodies, funders and policymakers.

'One of the other areas of focus I find particularly interesting is the problems faced by indigenous populations. Diagnosing a disease that requires the symptoms to be described in a way that another doctor using another language will be able to recognise. This is relatively simple if we all work in English in the developed world. But it is far harder in the developing world, particularly among populations that have indigenous languages. These are the most neglected of the neglected as their symptoms are not even addressed in their language.'

The research in this article was funded by the EU. If you liked this article, please consider sharing it on social media.

Rare diseases are individually rare but when you count them together around 30 million people in the EU suffer from one. There are several challenges in diagnosing and treating these conditions, including the fact that medical experts in a particular disease may not be local to the patient, the challenge of finding enough people to run trials for drugs, and the fact that pharmaceutical companies have little incentive to spend time and money developing products that will only help a small amount of people.

To support research and innovation into rare diseases, the EU has provided 1.4 billion to more than 200 projects over the last 13 years. Initiatives include E-Rare, now in its third iteration, a network of 23funding agencies from17 countries to fund transnational research.

In 2019, the EU launched the European Joint Programme in Rare Diseases an alliance between 130 institutions from 35 countries to improve the quality and take-up of rare disease research and develop an efficient way of funding the research. They also established a group of virtual networks for rare disease patients to allow them to benefit from medical expertise from all over the EU. The consortium works with several so-called European Reference Networks, virtual groups of healthcare professionals providing highly specialised care in areas such as epilepsies, rare neurodegenerative diseases and paediatric cancer.

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Q&A: 'We can diagnose more than 4000 rare diseases but there's still a long way to go' - Horizon magazine

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Tracking the global spread of the coronavirus through its genetic signature – Genetic Literacy Project

Friday, February 28th, 2020

Several years ago, Richard Neher, an evolutionary biologist at the University of Basel in Switzerland, and his colleagues wanted to monitor changes to the flus genetic makeup to see if the data would help scientists build more-effective flu vaccines. They developed an online interface and published the results in a publicly available interactive web browser.

Now, theyve adapted it to keep track of the genetic tweaks to SARS-CoV-2 as the virus moves from major hotspots in China to smaller pockets in other countries.

The Scientist: How do viral genomes sequences from swabs taken from infected patients help you build a family tree of the virus?

Richard Neher: These coronavirsuses tend to change their genome, they mutate, at a fairly high rate. As time goes on, the lineages pick up independent mutations, and then they cause outbreaks in different parts of the world.

TS: What can the data tell you about the viruss origins?

RN: The first takeaway is that all these sequences are very, very similar, about eight mutations different than the root. Thats eight mutations in a 30,000-base sequence. What this tells us is that the virus came from one source, not too long ago, somewhere between mid-November and early December.

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Tracking the global spread of the coronavirus through its genetic signature - Genetic Literacy Project

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