Category Archives: Genetics

Genetics

The last woolly mammoths on Earth had disastrous DNA – Livescience.com

Dwarf woolly mammoths that lived on Siberia's Wrangel Island until about 4,000 years ago were plagued by genetic problems, carrying DNA that increased their risk of diabetes, developmental defects and low sperm count, a new study finds.

These mammoths couldn't even smell flowers, the researchers reported.

"I have never been to Wrangel Island, but I am told by people who have that in the springtime, it's just basically covered in flowers," study lead researcher Vincent Lynch, an assistant professor of biological sciences at the University at Buffalo in New York, told Live Science. "[The mammoths] probably couldn't smell any of that."

Related: Mammoth resurrection: 11 hurdles to bringing back an ice age beast

Wrangel Island is a peculiarity. The vast majority of woolly mammoths died out at the end of the last ice age, about 10,500 years ago. But because of rising sea levels, a population of woolly mammoths became trapped on Wrangel Island and continued living there until their demise about 3,700 years ago. This population was so isolated and so small that it didn't have much genetic diversity, the researchers wrote in the new study.

Without genetic diversity, harmful genetic mutations likely accumulated as these woolly mammoths inbred, and this "may have contributed to their extinction," the researchers wrote in the study.

The team made the discovery by comparing the DNA of one Wrangel Island mammoth to that of three Asian elephants and two other woolly mammoths that lived in larger populations on the mainland.

"We were lucky in that someone had already sequenced the [Wrangel mammoth's] genome," Lynch said. "So, we just went to a database and downloaded it."

After comparing the mammoths' and elephants' genomes, the researchers found several genetic mutations that were unique to the Wrangel Island population. The team had a company synthesize these tweaked genes; then, the researchers popped those genes into elephant cells in petri dishes. These experiments allowed the researchers to analyze whether the proteins expressed by the Wrangel Island mammoth's genes carried out their duties correctly, by sending the right signals, for instance, in the elephant cells.

The team tested genes involved in neurological development, male fertility, insulin signaling and sense of smell. In a nutshell, the Wrangel Island mammoths were not very healthy, the researchers found, as none of those genes carried out their tasks correctly.

That said, the study looked at only one Wrangel Island mammoth, so it's possible that this individual's comrades didn't have similar genes. But "it's probably unlikely that it was just this one individual that had these defects," Lynch said.

In fact, the case of the Wrangel Island mammoths is a cautionary tale about what can happen to a population that is too small and therefore lacks genetic diversity, he said.

The findings build on those from a study published in 2017 in the journal PLOS Genetics that found that the Wrangel Island mammoth population was accumulating damaging mutations.

The new study was published online Feb. 7 in the journal Genome Biology and Evolution.

Originally published on Live Science.

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The last woolly mammoths on Earth had disastrous DNA - Livescience.com

Genetics

Researchers find genes of mysterious human species that interbred with Africans thousands of years ago – Firstpost

ReutersFeb 17, 2020 09:52:14 IST

Scientists examining the genomes of West Africans have detected signs that a mysterious extinct human species interbred with our own species tens of thousands of years ago in Africa, the latest evidence of humankinds complicated genetic ancestry.

The study indicated that present-day West Africans trace a substantial proportion, some two percent to 19 percent, of their genetic ancestry to an extinct human species what the researchers called a ghost population.

We estimate interbreeding occurred approximately 43,000 years ago, with large intervals of uncertainty, said the University of California, Los Angeles (UCLA) human genetics and computer science professor Sriram Sankararaman, who led the study published this week in the journal Science Advances.

It is unclear if West Africans derived any genetic benefits from the genes of this mysterious population.

Homo sapiens first appeared a bit more than 300,000 years ago in Africa and later spread worldwide, encountering other human species in Eurasia that have since gone extinct including the Neanderthals and the lesser-known Denisovans.

Previous genetic research showed that our species interbred with both the Neanderthals and Denisovans, with modern human populations outside of Africa still carrying DNA from both. But while there is an ample fossil record of the Neanderthals and a few fossils of Denisovans, the newly identified ghost population is more enigmatic.

Asked what details are known about this population, Sankararaman said, Not much at this stage.

We dont know where this population might have lived, whether it corresponds to known fossils, and what its ultimate fate was, Sankararaman added.

Sankararaman said this extinct species seems to have diverged roughly 650,000 years ago from the evolutionary line that led to Homo sapiens, before the evolutionary split between the lineages that led to our species and to the Neanderthals.

The researchers examined genomic data from hundreds of West Africans including the Yoruba people of Nigeria and Benin and the Mende people of Sierra Leone, and then compared that with Neanderthal and Denisovan genomes. They found DNA segments in the West Africans that could best be explained by ancestral interbreeding with an unknown member of the human family tree that led to what is called genetic introgression.

It is unclear if West Africans derived any genetic benefits from this long-ago gene flow.

We are beginning to learn more about the impact of DNA from archaic hominins on human biology, Sankararaman said, using a term referring to extinct human species. We now know that bothNeanderthal and Denisovan DNA was deleterious in general but there were some genes where this DNA had an adaptive impact. For example, altitude adaptation in Tibetans was likely facilitated by a Denisovan introgressed gene.

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Researchers find genes of mysterious human species that interbred with Africans thousands of years ago - Firstpost

Genetics

Parkinson’s driven by inflammation, genetics and the environment – UAB News

Written by Jesse Saffron, Ph.D., National Institute of Environmental Health Sciences. Used by permission

The reality is that today, we still dont have a treatment that slows or alters the progression ofParkinsons disease, saidDavid Standaert, M.D., Ph.D.

In 1817, James Parkinson published An Essay on the Shaking Palsy, describing the disease that now bears his surname. The British surgeons proposed treatment bloodletting proved ineffective, and the intervening two centuries led to no breakthroughs for patients.

The reality is that today, we still dont have a treatment that slows or alters the progression ofParkinsons disease, saidDavid Standaert, M.D., Ph.D., during a Jan. 8 talk at the National Institute of Environmental Health Sciences. He is chair of the Department of Neurology at the University of Alabama at Birmingham. We can help patients function better, but were not changing the underlying nature of the disease.

Parkinsons disease is complex, involvinggenetic and environmental factors, and their interaction.Guohong Cui, M.D., Ph.D., head of the NIEHS In Vivo Neurobiology Group, invited Standaert to discuss the role immunity plays in the disorder. Both researchers seek to discover ways to slow advancement of the condition and make it less severe.

Dr. Standaert is an established researcher in the Parkinsons field, which is one of the major areas my lab works in, Cui said. His team examines how pesticides interact with genetic factors associated with the disease and ways to slow dopamine loss, which is a hallmark of the disorder.

At UAB, Standaert directs the Morris K. Udall Center of Excellence in Parkinsons Disease Research, one of eight such centers funded by theNational Institute of Neurological Disorders and Stroke. One of his research questions is whether immune system responses to a protein called alpha-synuclein trigger neurodegeneration.

Alpha-synuclein is a cornerstone of research in Parkinsons disease, Standaert told the audience. It is a small protein present in high levels in neurons throughout the brain. It participates in virtually every form of the disease, whether through mutation, overexpression or aggregation, which is probably the most common mechanism.

Abnormal forms of alpha-synuclein may activate immune cells in the brain, leading to inflammation that drives progression of the disorder.

For many years, it was said that this is a degenerative disease and cells are dying, so, of course, theres inflammation, he said. I think in the last few years, weve turned this around and realized that the inflammation may come first, as part of a process that leads to degeneration.

When mutated, the LRRK2 protein can worsen problems caused by alpha-synuclein. It is one of the most common genetic causes of Parkinsons. In our clinic, about 2 to 3 percent of patients have LRRK2 mutations, he noted. Those mutations may cause Parkinsons by cranking up sensitivity of the immune system they may increase the magnitude of the response to alpha-synuclein.

But other factors bear consideration. To study the mechanisms responsible for Parkinsons disease, there is a need for model systems that replicate the effects of environmental toxins, Standaert said. He highlighted research by NIEHS grantee Briana De Miranda, Ph.D., of the University of Pittsburgh. She studies, among other things, how organic solvents may boost susceptibility to Parkinsons disease in individuals with LRRK2 mutations.

Standaert says the fact that inflammation may cause the disorder to advance more than it otherwise would means that anti-inflammatory drugs could hold promise. We have immunologic treatments for a lot of other diseases, such as inflammatory bowel disease, psoriasis and multiple sclerosis, Standaert said in an interview. Could we use one of those or something similar in Parkinsons disease to slow its progression?

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Parkinson's driven by inflammation, genetics and the environment - UAB News

Genetics

Meet the British genetics boss on the frontline of the coronavirus epidemic – Telegraph.co.uk

Zika, Ebola, Yellow Fever, H1N1 Swine Flu and now coronavirus: for one rapidly growing British company, outbreaks of the worlds deadliest pathogens represent an extraordinary call to arms.

While the rest of us cower and don surgical masks, Oxford Nanopore dispatches its handheld devices into the epicentre of epidemics, helping decode the DNA of deadly viruses and track their mutation and spread.

Chinas Centre for Disease Control and Prevention, in Beijing, is the latest to deploy Nanopore technologyputting 200 of the companys Minion devices, which are the size and shape of old clamshell mobile telephones, on the frontline of efforts to roll back the coronavirus.

The advantage of the Minion over gene sequencing rivals, says Oxford Nanopores CEO Gordon Sanghera, is that they are both portable and rapid. We are the only platform in the world that can give you live real-time genomic information, he says. The ability to look at it [the virus genome] in real time and contain or control it, all of that will evolve from data generation that no-one else can do.

The deployment of Minion devices will allow global health authorities to track the virus in unprecedented ways, says Nick Loman, professor of Microbial Genomics and Bioinformatics at the University of Birmingham: You can see the evolution of the virus, how its spreading, the rate of growth. With Nanopore you have the ability to get instrumentation in lots of different places, with lots of different groups sharing virus genome sequences.

Such information, when collated, could reveal infections with DNA sequences that are very similar, for example, allowing them to be traced back to so-called super-spreaders. Detailed genomic information could also help British authorities work out whether local cases of the disease have been picked up in Asia, or have been passed from person to person in the UK.

For that we need to see as much genomic data published as possible, says Loman. You want a representative sample from genomes from each site of infection, across time ,and published on the internet. Nanopores devices, he says, facilitate that because they are portable, rapid and cheap.

The coronavirus represents a particularly dramatic use case of the DNA decoding devices manufactured by Nanopore a spinout from Oxford University whose latest funding round of 109m six weeks ago valued it at 1.6bn.

A quarter of that raise was primary investment, made directly to the company. But three-quarters was secondary investment, with existing shareholders selling their stakes to new investors, with the price at 58 a share. Those sales included stakes in the company held by Neil Woodford the fund manager whose suspended Equity Income Fund and Woodford Patient Capital Trust (WPCT) once owned a combined 12.4pcof Oxford Nanopore.

WPCT is now managed by Schroders as the UK Public Private Trust, where Oxford Nanopore, at almost 15pc, is one of the top holdings.

Its unfortunate the Woodford Fund is where it is, says Sanghera. From a personal perspective, it's distressing for me because Neil is a friend of mine, but from a business perspective we've often refreshed our shareholder base in the 15 years weve been going. It is distressing when its such a fantastic and enthusiastic shareholder who is no longer available to us, but thats business, we have a plan and a strategy and we're executing on that.

That strategy includes the opening last year of a factory to produce various devices which, as well as the portable, small capacity Minion, include a bigger capacity device known as the Promethion. The factory will eventually be largely automated, says Sanghera, with robotic handling and silent running which will have a direct impact on efficiencies and thus on yields and margins.

The factory, he says, will allow the company to produce enough devices to hit one billion dollars in revenues in sales in five years time. Its 2018 revenues were $43m (33m).

It is still not breaking even. We anticipate break even in the next couple of years, says Sanghera. But the balance is growth versus revenue. We could reduce growth and hit profitability in 2021, but thats not necessarilythe right thing to do. The right thing for the business to do will be rapid expansion into new markets new territories, new projects.

Somewhere in the same timeline, perhaps one to three years away, is a stock market floatation which, he says, will value the company at anywhere between three and 10 billion dollars. The genomics space is very hot, he says.

To achieve that valuation, though, Sanghera thinks that the company will have to clear several hurdles. It will have to carve out a reputation for delivering steady revenues (DNA decoding, he says, makes Oxford Nanopore just too complex as a tech story). Revenue is why the new factory, and regular sales of its kit, is so important.

He also wants to demonstrate a couple of end-user applications he plucks shrimp farming from the air as an example where DNA sequencing can help productivity in previously unthought of ways. The third hurdle before flotation, is to take some market share from BGI and Illumina.

Those two companies Chinese and American respectively are Oxford Nanopores major competitors in the DNA decoding world. And while Nanopore has made its name with the handheld Minion device pictured below, Promethion is helping it edge into rival territory, dominated by Illumina, involving mass sequencing of hundreds of thousands of people in a general population.

On December 10th, just weeks beforeChina reported the coronavirus to the World Health Organisation, Oxford Nanopore signed a multi-million pound deal (it refuses to reveal the exact sum) with the United Arab Emirates, to sequence the genome of up to a million of its residents.

Such pop-gen (population-genetic) studies such as the UKs 100,000 genomes project allow mass DNA analysis across entire countries to help identify rare diseases, and initiate the delivery of personalised treatments.

Its the first time we competed head to head with Illumina and it's the first pop-gen order thats gone to us, says Sanghera. Thats a significant milestone for us.

The competition with Illumina is particularly intense because the two companies use different methods to decode DNA. Nanopore technology uses electric currents to detect the four different chemical bases on a strand of DNA as it is fed through a miniscule hole. Illumina marks the same bases with dyes then uses a machine to read the dye markers. Illuminas advocates say its technology is more accurate. Nanopore says it can read longer strands of DNA.

We believe we can compete on accuracy, says Sanghera, adding that the UAE dataset will put that debate to bed. In the hands of our customers the accuracy question doesnt really come up.

Which is just as well because currently their most urgent customers are the staff of Chinas CDC. When we launched the Minion, the idea was that when you have an outbreak, it will be possible to do real time genomic surveillance. That is fundamentally game changing, says Sanghera.

Its humbling that something we started 15 years ago is actually useful. We spent a lot of time wondering if anyone was going to buy it. Does anybody care? Are we deluded? I want the Coronavirus to go away. If theres any way we can help with that, good.

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Meet the British genetics boss on the frontline of the coronavirus epidemic - Telegraph.co.uk

Genetics

How to turn racists genetic arguments against them – The Irish Times

It was funny once. The perfectly square bit of dirt on the window. The shocked reactions of Craggy Islands Chinese community. The local farmer who doesnt have much time to be a racist, because he just likes to have a cup of tea in the evening. The feckin Greeks

Dermot Morgans finest televisual moment that evocation of Nazi speech-making in front of the greatest window in comedy is perhaps a little less funny now that prime minsters or presidents of Hungary, Turkey, the United Kingdom and the United States are happy and comfortable to spout racist statements, and not merely get away with it but be applauded for it by their supporters.

How have we reached this point? Its the very question asked by geneticist and broadcaster Dr Adam Rutherford. Hes the Rutherford in the BBCs popular radio programme The Curious Cases of Rutherford and Fry, in which he and Dr Hannah Fry try to solve listeners scientific queries.

In the case of the resurgence of publicly acceptable racism, Rutherford decided that a radio show was insufficient and that a book would be needed. How to Argue with a Racist is published this week, and Rutherford will be delivering a lecture on the subject during the Northern Ireland Science Festival.

So, how did we get back here? I find myself asking the same question, Rutherford says. I find myself in lectures thinking how strange it is that Im now talking about this, because these are mostly questions that were parked, in my field genetics years ago. Maybe decades ago. And we keep discovering interesting things about evolution and population differences, and migration, and so on, but the question of how race as a concept relates to biological diversity, that ended a while back.

Having these conversations in the academy is one thing, but as someone who tries to communicate science, to talk about it, as a broadcaster and as a writer, I found I was suddenly having very different conversations. Conversations about race, when we were talking about ancestry In some ways, science has failed to convey to the public what is correct, and so I want to equip people with what current scientific thinking is, so that when the question comes up, they have the tools to respond. To say, Yes, there hasnt been a white man in the Olympic 100m final since 1980, but no thats not because of any lack of African-American ancestry.

Its precisely that sort of casual, inauspicious racism that Rutherford looks to quash with his book. The idea that Olympic athletes with African heritage are somehow better because their genes are imbued with extra strength is rubbish, he says. For a kick-off, using athletes as a test sample is a daft idea because anyone with the sort of genetic gifts that allow them to perform at the highest level is a poor sample of what a broader population is like. Beyond that, theres a simpler rebuttal if those with African heritage are inherently genetically better at running very quickly than others, then where are the Olympic 100m champions from South America, Europe or elsewhere with populations that can trace heritage to Africa?

Besides, tracing your genetic lineage in that manner, looking for secrets and answers to why you are so underprivileged compared with others, is a nonsense, says Rutherford. I do think that part of the change in culture which means I kind of had to write this book is to do with the rise of nationalism and the more open discussion of race. Certainly there are more open discussions of public racism than at any point I can remember in my lifetime. There are other factors, though, such as the rise in genetic ancestry testing kits. Now, theyre not pernicious in themselves, but I argue that they have fostered a misunderstanding of what genetics means, and specifically in the form of a sort of reversion to essentialism. So a notion that were determined by our genes and our ancestry, which as a geneticist I just dont think are scientifically valid nor verifiable to the extent that people adopt them.

So, when you take one of these tests and it comes back saying that youre 10 per cent Swedish, or 15 per cent Irish, these are very broad strokes, that are not scientifically meaningless, but they are of only trivial relevance. But people attribute very great significance to them. For instance, I sometimes talk about the fact that, genetically speaking, there is no such coherent ancestral group as Celts. But try telling that to an audience in Glasgow and see what happens.

Over in Ireland youve got some of the best genetic genealogists in the world, people like Dan Bradley [head of the school of genetics at Trinity College Dublin] who has been tracking the story of the Irish for years, and thats really important work, its important to understand the movement of peoples and the migration of peoples. But theyre always complex. Ancestry is a matted web, not linear family trees.

For example, I have a friend who told me that hes descended from Niall of the Nine Hostages, and they can trace their ancestry back to him. Well, theres two things about that. One, no one is actually really sure if Niall of the Nine Hostages existed, which is problematic for a starter.

The second thing, though, is that if he did exist, he lived in the fourth or fifth century, and thats a date which comes before the isopoint, which is the time at which everyone in Europe is descended from everyone else. So if Niall did exist, and if my friend Bill is directly descended from him, then so too am I. And so are you. And so is a guy in southern Italy, and in Turkey, and literally everyone else in Europe. So if you can attach some kind of tribal identity to that, that idea that youre descended from some fifth-century Irish king, well everyone else is too.

This is a relatively recent revelation. One that has the power to stun those who claim kinship with any royal lineage, or who might have notions of racial purity. The simple, genetic, fact is that your family tree isnt a neat family tree at all. Its more like an overgrown shrub, especially the farther back you go. And because everyone elses is, too, it means that the family shrubs intertwine and merge until, once you go back a surprisingly few generations, were all related to everyone else.

Thus the late actor Christopher Lees claim to be directly descended from Charlemagne is accurate, but also meaningless. Not everyone can prove it using family trees. Christopher Lee could, because he was the descendent of an Italian contessa, so they had the paper trail of her family going back. The whole Danny Dyer story, which showed that he was a direct descendent of Edward III, they were able to paper-trail that too, and very few people can actually do that, but I calculated out a mathematical proof that anyone with long-standing English heritage is also 100 per cent descended from Edward III.

At which point I suggest that we should use our now undisputed and mathematically proven royal lineage to, shall we say, take back control, but Rutherford politely declines my invitation to insurrection. The point is, of course, more profound than working out where you stand in line for a throne. Its the fact that every white supremacist has, if you trace their genetic code back, African ancestry. Every Nazi has Jewish heritage. Every Briton is a mish-mash of European bloodlines.

The problem, of course, is that while all of this science is correct and provable, its also useless in the face of racism. As someone once said: You can argue with a racist; you can argue with a Labrador retriever, too, for all the good it will do you.

Rutherford agrees, but says theres a more important battle, on two fronts, to be fought. Part of the book discusses actual neo-Nazis and white supremacists, because they are obsessed with genetics. And their misunderstanding of genetics makes them think that they can prove some sort of racial purity, which is a nonsense. Arguing with those guys using science is a demonstration of the old Jonathan Swift maxim that you cant reason someone out of a position that they didnt reason themselves into, he says.

Who Im really interested in reaching, though, are those who arent racists, and who dont think like that. But because of relying on stereotypes, or myths, or the cultural sphere that says that race is real, or that some factors are biologically encoded and that those factors segregate by race, I want those discussions to be the ones that are informed by science. Because those people arent fundamentally racist, so when youre armed with facts, and youre armed with a knowledge of history, then I think that is your best route to change. Science is a powerful ally, its the best ally we have, I think. But whats the Bob Dylan line? I know my song well before I start singing.

One of the ideas I explore is that scientists need to get more involved. Its no longer good enough to simply say: Heres the data and let society decide. Racists have no such compunctions, and will use every tool at their disposal to spread their message. So if we. as scientists, sit back and say, Hey, its just the data and I dont know what the political ramifications are, thats for others to discuss, then were volunteering ourselves to defeat, and for our voices to be silenced in favour of populist, emotive arguments, and thats the political landscape in which we now live.

Racism isnt wrong because its drawn from and based on a misunderstanding, or specious scientific ideas. Racism is wrong because its an affront to basic human dignity. What Im saying is, if you want to be a racist, fine, fill your boots, go ahead, but you cant have my scientific tools, my weapons, to justify your position.

How to Argue with a Racist by Adam Rutherford is published by Orion. Northern Ireland Science Festival runs February 13th-23rd. nisciencefestival.com

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How to turn racists genetic arguments against them - The Irish Times

Genetics

Remote collaborative research drives new insights on a rare genetic disorder linked to schizophrenia – USC News

The key to a better understanding of schizophrenia may exist in a genetic disorder so rare that researchers havent been able to conduct an adequate study until now.

The genetic disorder 22q11.2 deletion syndrome (22q11DS), caused by a small segment of missing DNA on chromosome 22, is the strongest known genetic risk factor for developing schizophrenia. About a quarter of people with the disorder develop schizophrenia or experience psychotic symptoms, so studying it provides a unique window into how such psychiatric problems develop over time.

But theres one problem: Only about one in 4,000 people have it. Even a large city like Los Angeles may hold just a few hundred people with the condition.

Fortunately, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium, led by Paul M. Thompson, PhD, associate director of the Mark and Mary Stevens Neuroimaging and Informatics Institute (INI) at the Keck School of Medicine of USC, has spent the past 10 years uniting researchers around the world to pool data and insights on rare diseases. Now, ENIGMA has launched a new working group to study 22q11DS using data collected by researchers across the U.S., Canada, Europe, Australia and South America.

Weve pieced together many of the major research centers studying 22q11DS around the world to create the largest-ever neuroimaging study of the disorder, said Christopher Ching, PhD, a postdoctoral researcher at the INI and lead author of the working groups latest study.

Thompson, Ching and the ENIGMA 22q11.2 Deletion Syndrome Working Group published their results in the American Journal of Psychiatry on Feb. 12.

Correlations become clear with advanced neuroimaging

To get a clear picture of the brain abnormalities associated with schizophrenia in individuals with 22q11DS, the studys authors examined magnetic resonance imaging (MRI) scans from 533 people with the disorder and 330 healthy control subjects. Using advanced analytic techniques developed at the USC INI, the authors measured and mapped structural differences between the brains of the two groups.

Overall, individuals with 22q11DS had significantly lower brain volumes, as well as lower volumes in specific structures including the thalamus, hippocampus and amygdala, compared with the control group. They also had higher volumes in several brain structures. The magnitude of these abnormalities, especially in those 22q11DS individuals that had psychosis, was larger than is typical in many other common psychiatric conditions.

Notably, the brain changes seen in people with 22q11DS and psychosis significantly overlapped with the brain changes observed in the largest-ever neuroimaging studies of schizophrenia and other serious mental illnesses including bipolar disorder, major depression and obsessive-compulsive disorder.

Thats important because these overlapping brain signatures add evidence to support 22q11DS as a good model for understanding schizophrenia in the wider population, Ching said. And thanks to these large ENIGMA studies, we now have a way to directly compare standardized brain markers across major psychiatric illnesses on an unprecedented scale.

This powerful connection means that studying 22q11DS may provide a clear path toward finding a biomarker, or a reliable biological indicator, of schizophrenia. Because of the large sample size used in the analysis, the researchers also found that larger segments of missing DNA in 22q11DS are linked to more extensive brain abnormalities.

Next steps in research

Looking forward, the studys authors aim to explore the similarities between brain abnormalities in individuals with 22q11DS and those with schizophrenia, bipolar disorder, major depressive disorder and obsessive-compulsive disorder, drawing on data from other ENIGMA groups to better understand whether various psychiatric illnesses may share common origins and affect similar or distinct brain circuits.

The group also plans to use these new analytic tools to explore 22q11DS in animal models, where they can conduct more controlled experiments to better understand the effects of the missing DNA segments across development.

We can even experimentally manipulate specific genes within the locus to better understand how and when they are affecting the development of these brain structures, said Carrie Bearden, PhD, professor of psychiatry and biobehavioral science and psychology at the University of California, Los Angeles, chair of the working group and corresponding author of the study.

Zara Greenbaum

The study was funded by NIHgrantU54EB020403 from the Big Data to Knowledge (BD2K) Program, NIMH Grant RO1 MH085953, and NIA T32AG058507.

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Remote collaborative research drives new insights on a rare genetic disorder linked to schizophrenia - USC News

Genetics

Has Signal Genetics (MGEN) Outpaced Other Medical Stocks This Year? – Yahoo Finance

Investors focused on the Medical space have likely heard of Signal Genetics (MGEN), but is the stock performing well in comparison to the rest of its sector peers? A quick glance at the company's year-to-date performance in comparison to the rest of the Medical sector should help us answer this question.

Signal Genetics is one of 901 companies in the Medical group. The Medical group currently sits at #1 within the Zacks Sector Rank. The Zacks Sector Rank gauges the strength of our 16 individual sector groups by measuring the average Zacks Rank of the individual stocks within the groups.

The Zacks Rank is a proven model that highlights a variety of stocks with the right characteristics to outperform the market over the next one to three months. The system emphasizes earnings estimate revisions and favors companies with improving earnings outlooks. MGEN is currently sporting a Zacks Rank of #2 (Buy).

Within the past quarter, the Zacks Consensus Estimate for MGEN's full-year earnings has moved 26.19% higher. This shows that analyst sentiment has improved and the company's earnings outlook is stronger.

Based on the latest available data, MGEN has gained about 56.28% so far this year. Meanwhile, stocks in the Medical group have gained about 2.09% on average. This shows that Signal Genetics is outperforming its peers so far this year.

To break things down more, MGEN belongs to the Medical - Biomedical and Genetics industry, a group that includes 385 individual companies and currently sits at #73 in the Zacks Industry Rank. This group has gained an average of 0.20% so far this year, so MGEN is performing better in this area.

Investors with an interest in Medical stocks should continue to track MGEN. The stock will be looking to continue its solid performance.

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Has Signal Genetics (MGEN) Outpaced Other Medical Stocks This Year? - Yahoo Finance

Genetics

Seattle Genetics gets another drug close to the finish line – Endpoints News

Seattle Genetics productive streak continues.

After closing out 2019 with its second approved drug a potential blockbuster in Padcev the ADC biotech then presented data showing that Padcev combined with Keytruda may be more effective than Keytruda alone for bladder cancer patients.

And on Thursday, the company announced another drug has been accepted for FDA review and has been given priority status. The drug, tucatinib, is being assessed as part of a combination treatment for locally advanced or metastatic HER2-positive breast cancer. A PDUFA date has been set for August 20, 2020.

The application to market the drug is based on positive progression-free survival and overall survival data from a Phase II trial unveiled in December: Patients given tucatinib lived about 2 months longer without their cancer returning.

Unlike the rest of Seattles pipeline, tucatinib is not anADC, or an antibody-drug conjugate. Once a trendy idea, the concept fell mostly out of the news for years before Seattle Genetics recent success revived interest. The technology essentially uses an antibody as a kind of homing system to guide a cytotoxic drug to the tumor site.

Rather, the drug is a selective tyrosine kinase inhibitor for HER2. It did not come from in-house, but was originally developed by Array BioPharma, who licensed it to Cascadian Therapeutics. Seattle Genetics bought Cascadian for $614 million in 2018.

In addition to tucatinib and Padcev, known chemically as enfortumab vedotin, Seattle Genetics also has a Phase II ADC in collaboration with Genmab and a Phase II ADC in collaboration with Takeda.

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Seattle Genetics gets another drug close to the finish line - Endpoints News

Genetics

ACSM Tackles Myth on Genetics and Heart Disease as Part of American Heart Month – Newswise

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MEDICINE

Newswise (Indianapolis, IN) Nearly half of all U.S. adults have some type of cardiovascular disease. Its a heartbreaking statistic literally and figuratively. People often believe their risk for heart disease cannot be reduced if they have a genetic predisposition. In honor of American Heart Month, the American College of Sports Medicine (ACSM) and ACSM Fellow Beth A. Taylor, Ph.D., have teamed up to shatter this heart myth.

The truth about the heritability (or genetic component) of heart disease is a glass far more full than empty, as long as we look at it accurately, says Dr. Taylor, associate professor of kinesiology at the University of Connecticut and the director of exercise physiology research at Hartford Hospital.

Genetics do play a significant role in increasing heart disease risk. Research shows that individuals at high genetic risk have a 91% higher chance of experiencing a cardiac event, yet that risk can be cut nearly in half by adopting healthy lifestyles.

We may have genes that predispose us to cardiovascular disease, but when, how and to what extent those genes express themselves is highly influenced by lifestyle, says Dr. Taylor. Being more physically active, aiming for a healthy weight, eating a heart healthy diet and avoiding smoking can improve heart health and reduce the risk of coronary events by 46% for high genetic risk individuals.

The outlook looks even better when considering being healthy across the lifespan rather than at a single age. The Framingham Heart Study, a project of Boston University and the National Heart, Lung and Blood Institute (NHLBI), has sought to identify common factors contributing to cardiovascular disease (CVD) by following CVD development in three generations of participants.

Dr. Taylor adds, When those three generations of the Framingham Heart Study were reviewed, investigators concluded that the heritability of ideal cardiovascular health was only 13-18%, with health behaviors and lifestyle factors being much more influential.

She says other studies have found that adhering to just four out of five of healthy lifestyle factors (e.g., avoiding smoking and excessive alcohol intake, performing 30 or more minutes a day of moderate-to-vigorous physical activity, eating a heart healthy diet) increased the likelihood of living free of cardiovascular disease, as well as cancer and Type 2 diabetes, by more than 10 years in women and seven years in men.

For Dr. Taylor, the take-home message is simple. You cant completely cure a broken heart; however, you can make it better or worse based on your lifestyle. The choice is yours!

Find more heart health resources from ACSM at https://www.acsm.org/read-research/trending-topics-resource-pages/heart-health-resources.

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About the American College of Sports Medicine

The American College of Sports Medicine is the largest sports medicine and exercise science organization in the world. More than 50,000 international, national and regional members and certified professionals are dedicated to advancing and integrating scientific research to provide educational and practical applications of exercise science and sports medicine. More details at acsm.org.

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ACSM Tackles Myth on Genetics and Heart Disease as Part of American Heart Month - Newswise

Genetics

Merck-allied Seattle Genetics’ positive update on its 2nd ADC may point to an accelerated dash to the FDA finish line – Endpoints News

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Merck-allied Seattle Genetics' positive update on its 2nd ADC may point to an accelerated dash to the FDA finish line - Endpoints News