Human Behavior

How AI could spot your weaknesses and influence your choices – The Next Web

Artificial intelligence is learning more about how to work with (and on) humans. A recent study has shown how AI can learn to identify vulnerabilities in human habits and behaviors and use them to influence human decision-making.

It may seem cliched to say AI is transforming every aspect of the way we live and work, but its true. Various forms of AI are at work in fields as diverse as vaccine development, environmental management and office administration. And while AI does not possess human-like intelligence and emotions, its capabilities are powerful and rapidly developing.

Theres no need to worry about a machine takeover just yet, but this recent discovery highlights the power of AI and underscores the need for proper governance to prevent misuse.

A team of researchers at CSIROs Data61, the data and digital arm of Australias national science agency, devised a systematic method of finding and exploiting vulnerabilities in the ways people make choices, using a kind of AI system called a recurrent neural network and deep reinforcement-learning. To test their model they carried out three experiments in which human participants played games against a computer.

The first experiment involved participants clicking on red or blue colored boxes to win a fake currency, with the AI learning the participants choice patterns and guiding them towards a specific choice. The AI was successful about 70% of the time.

In the second experiment, participants were required to watch a screen and press a button when they are shown a particular symbol (such as an orange triangle) and not press it when they are shown another (say a blue circle). Here, the AI set out to arrange the sequence of symbols so the participants made more mistakes, and achieved an increase of almost 25%.

Read more:If machines can beat us at games, does it make them more intelligent than us?

The third experiment consisted of several rounds in which a participant would pretend to be an investor giving money to a trustee (the AI). The AI would then return an amount of money to the participant, who would then decide how much to invest in the next round. This game was played in two different modes: in one the AI was out to maximize how much money it ended up with, and in the other the AI aimed for a fair distribution of money between itself and the human investor. The AI was highly successful in each mode.

In each experiment, the machine learned from participants responses and identified and targeted vulnerabilities in peoples decision-making. The end result was the machine learned to steer participants towards particular actions.

These findings are still quite abstract and involved limited and unrealistic situations. More research is needed to determine how this approach can be put into action and used to benefit society.

But the research does advance our understanding not only of what AI can do but also of how people make choices. It shows machines can learn to steer human choice-making through their interactions with us.

Read more:Australians have low trust in artificial intelligence and want it to be better regulated

The research has an enormous range of possible applications, from enhancing behavioral sciences and public policy to improve social welfare, to understanding and influencing how people adopt healthy eating habits or renewable energy. AI and machine learning could be used to recognize peoples vulnerabilities in certain situations and help them to steer away from poor choices.

The method can also be used to defend against influence attacks. Machines could be taught to alert us when we are being influenced online, for example, and help us shape a behavior to disguise our vulnerability (for example, by not clicking on some pages, or clicking on others to lay a false trail).

Like any technology, AI can be used for good or bad, and proper governance is crucial to ensure it is implemented in a responsible way. Last year CSIRO developed an AI Ethics Framework for the Australian government as an early step in this journey.

AI and machine learning are typically very hungry for data, which means it is crucial to ensure we have effective systems in place for data governance and access. Implementing adequate consent processes and privacy protection when gathering data is essential.

Organisations using and developing AI need to ensure they know what these technologies can and cannot do, and be aware of potential risks as well as benefits.

This article by Jon Whittle, Director, Data61, is republished from The Conversation under a Creative Commons license. Read the original article.

Published February 15, 2021 13:30 UTC

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Human Behavior

Read of The Day author Emily Layden talks ‘All Girls’ Thursday – theday.com

It's very early in the rocket ride that will apparently be Emily Layden's career as a novelist, but she's already got the wholeinterview thing figured out. She's decided on the optimally comfortable chair for talking on the phone with reporters, and if the conversation takes place before noon, she drinks hot tea. If it happens after lunch, she shifts to sports drinks.

As for any wine and cheese receptions she might be missing out on as she undertakes her first author tour virtually, that's not a big deal.

"I actually find the idea of parties in my honor a nightmare scenario," she laughs. "I understand those receptions fit a lot of author profiles, and I'd probably get used to them. Right now, though, doing book events this way means I don't have to conquer some of the social anxiety."

Based on the advance reception for Layden's debut novel, "All Girls," the author had best get used to the attention. The book, a coming-of-age ensemble story set at Atwater, a fictitious and prestigious female prep school in Connecticut, centers around reactions to a late-breaking accusation by a long-ago student that she was raped by an unidentified faculty member a man supposedly still teaching at the institution.

Layden will discuss "All Girls" Thursday on the February episode of our virtual "Read of the Day" Book Club sponsored by The Day in partnership with Bank Square Books. Day reporter Julia Bergman will interview Layden for the event.

The author, 32, is a graduate of Stanford and, over the past six years, taught at three different female boarding schools providing experience and context for "All Girls." Layden majored in American studies at Stanford, studied creative writing, and comes from a family of writers; her father, Joe Layden, is a successful ghostwriter of celebrity biographies.

Quick success

Emily Layden, speaking by phone last week from her home in upstate New York in anticipation of her "Read of The Day" appearance, says she's known for years she wanted to write fiction.

She also knew the long odds facing anyone who wants a career as a novelist, and was prepared for the typical rough journey of rejection and setbacks as she hoped to find, first, an agent and then possibly a publisher.

What Layden didn't count on was quick success. But she'd barely submitted "All Girls" originally titled "Legacy" to agents when she was offered representation by literary agent Lisa Grubka of Fletcher & Co.In turn, St. Martin's Press offered a six-figure advance for the book less than 24 hours after receiving the manuscript.

"Certainly, the manner in which my book was sold not just the advance but the rapidity of the deal is not something any writer dares hope for," says Layden, who can now focus exclusively on writing. "I am extremely grateful for St. Martin's investment in me and my work, but it did create a different set of expectations than I'd expected. I'm more than happy to have the chance to spend my life writing, but it's sudden and different."

Ensemble cast

While the rape allegation and the identity of the accused faculty member certainly provide a "mystery" element to "All Girls," the novel is not structured like a conventional thriller. Covering one year at Atwater, the novel features an ensemble cast with each chapter taking the point of view of a different student. Against beautifully and wistfully detailed campus milestones from initiation and fall festivals to commencement and graduation the young women each must navigate the school year's academics and social interactions through the prisms of their own anxieties and desires. These developments are then skewed by the rumors about the faculty rapist and the administration's efforts to placate students and parents against the increasing belief that some sort of cover up is taking place.

If "All Girls" seems custom-crafted for our times, particularly with the #MeToo movement, Layden says the issues are important but coincidental.

"I actually did not set out to write about #MeToo," she says, "but rather the institutional mindset at a boarding school and the matter of transparency ... about the capacity of girls to speak their minds in circumstances that don't welcome that sort of initiative. And the mystery that drives the book is a lens through which we can see how all this happens at a place like Atwater."

Layden does amasterful job of establishing a cast of individuals whose experiences and day-to-day vignettes establish a broad and representative range of student types against which the plot and narrative tension develop. There's distance-running freshwoman Macy, who has major anxiety issues; Olivia, the universally adored all-everything senior, and her girlfriend, swimming star Emma. Chloe is plenty popular but hides an embarrassingsecret. And Louisa, the editor of the school newspaper, can't explain to the Head of School why a forbidden issue of the paper suddenly appeared online and triggeredtumultuous results.

Smooth assurance

If it seems risky to allot just one chapter to each character, rest assured Layden writeswith smooth assuranceand has selected her protagonists in a way that allows each one's interactions with others to continue the threads of the plot. In fact, the ensemble cast was precisely what Layden wanted to explore.

"The book really isn't about solving a mystery or the legacy of the school," she explains. "What it IS about are the ripples that spread out through the story and how each individual girl is processing them within developments in her own life. I never lost sight of wanting to write something that was about the girls."

Layden is asked if, in that writerly fashion, any of the characters surprised her developmentally as she worked through the drafts of the manuscript.

"Over the course of the book, these girls became as real to me as family members. In that sense just as with real friends or family sometimes they surprised me," Layden says. "At the same time, they do so in a way that would be consistent with human behavior from someone you know really well."

In that sense, the flow of the plot was never threatened when a character naturally evolved in a way the author didn't originally anticipate. "Fortunately, I was able to write the book I wanted, with a chorus of voices rather than just one protagonist. I will say that my favorite of the characters changed over the course of the book, but I love them all."

Oh, and as for the "whodunnit" aspect of the alleged rapist, Layden laughs and says, "I did know how it would turn out, but I'm laughing because that's been a pretty rare experience for me. This is my first novel, but all the stuff I wrote as an undergraduate, I started without knowing where the story was going. I'd just take off and see what happened. Because of the structure of 'All Girls,' I needed to have a sense of story and signposts along the way. So it worked out. I think that's probably the best way to do it."

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Read of The Day author Emily Layden talks 'All Girls' Thursday - theday.com

Human Behavior

Participants Needed for Nutrition and Health Behavior Study – University of Arkansas Newswire

Are you interested in learning more about how behavior impacts your health?

The Center for Human Nutrition and the Exercise is Medicine program at the University of Arkansas are recruiting adults over the age of 18 years to participate in research related to health and behavior.

The DFEND (Diet, Food, Exercise, and Nutrition During social distancing) research study is a 20-week education program which involves 30-minute educational meetings once per week, weekly health and behavior challenges, and the opportunity to meet weekly with personalized coaches.

Compensation for full participation for the first 75 people to sign up.

Anyone can join the DFEND educational sessions for free without signing up for the research study.

For more information, please contact us atbaum@uark.eduordfend@uada.eduor go to our websiteaaes.uark.edu/dfend3.

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Participants Needed for Nutrition and Health Behavior Study - University of Arkansas Newswire

Human Behavior

Preparation and prevention vs insider threats The Manila Times – The Manila Times

Insider threats may have been looming even before the start of the Covid-19 pandemic, but the crisis further put a corporations security in distress.

Because of the drastic changes caused by the pandemic, the various factors that could motivate employees and other insiders to put their organizations computer network in danger intensified. These include fear, anxiety, anger, depression and financial troubles.

Working remotely also cultivated an environment that offers malicious insidersopportunities to execute security breaches. And employee negligence can result in the unauthorized access to or sharing of information from laptops, mobile phones, cloud storage and other technologies.

Organizations must increase their vigilance and diligence to reduce insider threats during this time. These can be done by applying a proactive approach in balancing security and privacy.

The rise of insider threats

The dramatic increase in security breaches requires organizations to take a more comprehensive approach in combating insider threats. A study by the Ponemon Institute, a leading security research organization, showed that insider threats have jumped by 47 percent over the past two years. Reasons cited for this increase include the growing number of emboldened insiders who are determined to commit theft, fraud and espionage; negligent employees who unintentionally made disclosures by using weak passwords or divulging sensitive information by falling prey to phishing; and using compromised devices for work. These have been especially amplified by the work-from-home arrangements that many firms have adopted.

As the term indicates, insider threats are mostly caused by complacent employees, contractors and third parties, rather than malicious external threats. To provide some perspective, 62 percent of insider-threat incidents are caused by negligent, hasty or unaware employees; 23 percent resulted from compromise, with stolen and sold insider credentials leading to identify theft and sabotage; and 14 percent are linked to insiders with intent to commit theft, fraud or espionage.

Insider threats are aided by different tools, such as encryption, cryptocurrencies and dark web trading sites, and working remotely can significantly contribute to them.

Furthermore, when information is stored in the cloud, it can be accessed anywhere, thus making it easier for hackers to steal it. Understanding the signs that indicate insider threats can help organizations trace potential issues and prevent breaches from happening.

As digital transformation is currently trending, the internet has made it easy for cyberattackers to steal private data from organizations. Platforms such as dark websites and the onion router allow buyers and sellers to trade data online. Cybercriminals are exerting great effort to search for vulnerable insiders who are willing to give them the data they need while looking for ways to hack systems.

Human error

While we know that human behavior is the ultimate cause of insider threats, most organizations still rely on technology to detect and prevent attacks. This approach has led to organizations only reacting after an attack has occurred.

It is suggested that an organization must have a human-centric insider threat program from the beginning. Employees should be engaged through training, transparency and communication. The program must also make use of human behavior and analytics tools to determine possible human vulnerabilities and prevent a potential breach. Employee involvement should be a big part of any organizations cybersecurity program.

Engaging employees to identify and help prevent insider threats makes them an organizations top ally in cybersecurity. By using technology and analytics to identify and predict potential human vulnerabilities, an organization would have a more robust insider-threat program. But with all these said, it would still need to balance employee participation and behavior. This makes training, awareness, communication and assessment of privacy risk very important.

Implementing insider-threat programs

Insider threats have been established as notable cybersecurity risks that can result in heavy financial and reputational damages. To ensure consistency and compliance, organizations must carefully design insider-threat programs to cater to long-term use and sustainability.

According to Grant Thornton, the effective implementation of this program is marked by three pillars: Assess, Build and Run. Assess makes sure organizations evaluate regulatory requirements, industry standards and best practices that apply to high-value data. This includes evaluating data protection tools, solutions, risks and employee preparedness.

Under Build, organizations should implement the changes identified during Assess, and must make up of policies, procedures, governance, teams, training and tools. They must also implement and integrate technology to identify and track insider-threat indicators.

Under Run, effective programs should be managed and monitored. Among those factors monitored are employee sentiment, awareness, compliance and training, and reporting on performance and risk metrics. Programs must also be adjusted based on feedback and regular independent audits.

Overcoming the challenges of remote working

Of course, there will be challenges in implementing an insider-threat program amid the pandemic, given that many employees still work from home. Trying to maintain a secure online work environment is already difficult, and introducing such a program may even be more so. But one must remember that with employees working remotely using laptops, mobile devices and independent internet connections, the risk of security breaches increases.

As dated cybersecurity methods involving traditional firewalls are becoming obsolete, it becomes necessary for organizations to take the initiative in addressing insider threats where the line between trust and human behaviors are ever changing. Investing in cybersecurity at this time will reap great benefits as cybercriminals are still looking out for vulnerable links. Prioritizing cybersecurity is undoubtedly one of the decisions that would make or break any organizations future.

Mark Bajar is the lead consultant of the Advisory Services Division of P&A Grant Thornton. P&A Grant Thornton is one of the leading audit, tax, advisory, and outsourcing firms in the Philippines with 22 partners and more than 900 staff members. Wed like to hear from you! Tweet us with @GrantThorntonPH; like us on Facebook at P&A Grant Thornton; and email your comments to pagrantthornton@ph.gt.com. For more information, visit http://www.grantthornton.com.ph.

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Preparation and prevention vs insider threats The Manila Times - The Manila Times

Human Behavior

The secret startup weapon no one talks about: Befriending competitors – The Next Web

As an entrepreneur, you probably already know that its important to keep an eye on the competition. You want to continually analyze what theyre doing in order to learn from their approach and understand where you can stand out.

But over my 15 years of building startups, my co-founder and I have found a better strategy is to cozy up to the competition even befriend them.

I know this approach can seem counterintuitive, but it was critical to the success of our last business, Imagine Easy, and is the same playbook were following with our current one, classic games, and brain training app Solitaired.

Not convinced? Well, let me walk you through the short-, medium- and long-term benefits weve seen from this strategy and how easy it is to put into action.

A major goal of befriending the competition is to set up a future opportunity to acquire them.

Time and time again in scaling companies, Ive found that acquisition is an effective tool to build market share, gain new technologies, and grow a customer base. Moreover, youre no longer allocating resources to fend off the competition, and instead, their success becomes yours.

While you may see competition as someone you need to beat at all costs, if one of your goals is to be acquisitive, it doesnt make sense to have an acrimonious relationship.

We dont go into a relationship or conversation with an agenda to be duplicitous or to get a competitive leg up. Instead, by building good relationships over time, our company becomes the first they reach out to when theyre ready to sell.

On top of that, were able to negotiate very friendly terms, often accretive to our business, because they already know and trust us.

In the interim, befriending your competitors can provide you a lot of opportunities to collaborate. If you both have common goals, could you achieve them better together? To expand your footprint, you need to either find ways to take traffic away from competitors, target new customers, or as an alternative, partner with to expand the pie together.

Your competitors may look at your outreach and the ideas you bring forward incredulously. Instinctually, they might think you have alternative goals.

For instance, at Imagine Easy, we had one competitor who was very skeptical when we reached out to him, and it seemed unlikely we would ever be able to acquire that company.

However, we noticed a way he could be making a lot more money using some proprietary ad technology we had built, so we approached him about a partnership in which we would help him monetize his site and he would give us a cut.

We started with a one-month trial where we increased his revenue 5x and over a 5 year period we turned this into meaningful cash flow that we were able to reinvest in our main business.

In the end, it helped that founder make enough money to retire. And when he was ready to sell, we were able to buy on friendly terms because he was so thrilled with the work we had done.

Even if there isnt a clear opportunity to work with a competitor, I always tell people that its still good to build the relationship because, in doing so, your competition might become a little less competitive.

Its a very core human behavior: just by viewing each other as people instead of as a faceless enemy, you have more goodwill towards one another.

This isnt to say youll completely lose your competitive edge, but maybe instead of copying strategies or stealing features, youll both look for other ways to differentiate yourself without undercutting each other.

Additionally, you can even share information that would help you both (without hurting your business). For instance, when we noticed that Solitaired was seeing a dip in traffic, we were able to check with a friendly competitor to confirm that it was a seasonal trend they were also experiencing. As result, we were able to avoid deep-diving into site performance to understand if there may be an issue with our platform.

Opening positive communication channels with competitors is more beneficial than most realize. In one instance, a competitor told us about a technology to monetize ad-block users which increased our revenue by more than 5%.

More importantly, though, a good relationship with a competitor has the unintended side effect of pushing you to think outside the box.

So how do you actually become friends with your biggest competitors? I start by reaching out and being complimentary, sharing that I like what theyre doing, and offering to be of help in any way I can.

I find often in building these relationships, I have to give a little before a competitor will open up. So Ill often share basic things that might help them general industry insight, high-level strategies that have been working well, or new technologies Ive noticed in the space.

In one instance, I shared insights from a successful conversion rate optimization test, which I knew could be helpful to them but not harm us at the same time.

Finally, I always frame these conversations around our common goals. Could we do more or accelerate our missions together? That type of aspirational messaging always builds towards a strong long-term relationship.

This approach might seem counterintuitive at first, and its not going to lead to results overnight. Its a long-game strategy but its one I continue to pursue because the benefits can be game-changing.

Published February 15, 2021 09:42 UTC

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Genetics

Genetic study of Lewy body dementia supports ties to Alzheimer’s and Parkinson’s diseases – National Institutes of Health

News Release

Tuesday, February 16, 2021

NIH-led study locates five genes that may play a critical role in Lewy body dementia.

In a study led by National Institutes of Health researchers, scientists found that five genes may play a critical role in determining whether a person will suffer from Lewy body dementia, a devastating disorder that riddles the brain with clumps of abnormal protein deposits called Lewy bodies. Lewy bodies are also a hallmark of Parkinsons disease. The results, published in Nature Genetics, not only supported the diseases ties to Parkinsons disease but also suggested that people who have Lewy body dementia may share similar genetic profiles to those who have Alzheimers disease.

Lewy body dementia is a devastating brain disorder for which we have no effective treatments. Patients often appear to suffer the worst of both Alzheimers and Parkinsons diseases. Our results support the idea that this may be because Lewy body dementia is caused by a spectrum of problems that can be seen in both disorders, said Sonja Scholz, M.D., Ph.D., investigator at the NIHs National Institute of Neurological Disorders and Stroke (NINDS) and the senior author of the study. We hope that these results will act as a blueprint for understanding the disease and developing new treatments.

The study was led by Dr. Scholzs team and researchers in the lab of Bryan J. Traynor, M.D., Ph.D., senior investigator at the NIHs National Institute on Aging (NIA).

Lewy body dementia usually affects people over 65 years old. Early signs of the disease include hallucinations, mood swings, and problems with thinking, movements, and sleep. Patients who initially have cognitive and behavioral problems are usually diagnosed as having dementia with Lewy bodies, but are sometimes mistakenly diagnosed with Alzheimers disease. Alternatively, many patients, that are initially diagnosed with Parkinsons disease, may eventually have difficulties with thinking and mood caused by Lewy body dementia. In both cases, as the disease worsens, patients become severely disabled and may die within eight years of diagnosis.

A growing body of evidence suggests genetics may play a role in the disorder and that some cases may be inherited. Scientists have found that some of these rare cases can be caused by mutations in the gene for alpha-synuclein (SNCA), the main protein found in Lewy bodies. Further studies have found that variants in the gene for apolipoprotein E (APOE), which is known to play a role in Alzheimers disease, may also play one in Lewy body dementia.

Compared to other neurodegenerative disorders, very little is known about the genetic forces behind Lewy body dementia, said Dr. Traynor. To get a better understanding we wanted to study the genetic architecture of Lewy body dementia.

To do this, they compared the chromosomal DNA sequences of 2,981 Lewy body dementia patients with those of 4,931 healthy, age-matched control participants. Samples were collected from participants of European ancestry at 44 sites: 17 in Europe and 27 across North America. The DNA sequencing was led by Clifton Dalgard, Ph.D., and researchers at The American Genome Center, a series of state-of-the-art laboratories at the Uniformed Services University of the Health Sciences and supported by the Henry M. Jackson Foundation for the Advancement of Military Medicine.

Initially, they found that the sequences of five genes from the Lewy body dementia patients were often different from those of the controls, suggesting that these genes may be important. It was the first time that two of the genes, called BIN1 and TMEM175, had been implicated in the disease. These genes may also have ties to Alzheimers and Parkinsons diseases. The other three genes, SNCA, APOE, and GBA, had been implicated in previous studies, and thus, strengthened the importance of the genes in Lewy body dementia.

The researchers also saw differences in the same five genes when they compared the DNA sequences of another 970 Lewy body dementia patients with a new set of 8,928 control subjects, confirming their initial results.

Further analysis suggested that changes in the activity of these genes may lead to dementia and that the GBA gene may have a particularly strong influence on the disease. The gene encodes instructions for beta-glucosylceramidase, a protein that helps a cells recycling system break down sugary fats. The researchers found that both common and rare variants in the GBA gene are tied to Lewy body dementia.

These results provide a list of five genes that we strongly suspect play a role in Lewy body dementia, said Dr. Traynor.

Finally, to examine the apparent links between Lewy body dementia and other neurodegenerative diseases, the researchers further analyzed data from previous studies on Alzheimers and Parkinsons disease. They found that the genetic profiles of the patients in this study had higher chances of suffering from either Alzheimers or Parkinsons disease than the age-matched control subjects. These predictions held even after they lowered the potential impact of known Alzheimers and Parkinsons disease-causing genes, like APOE and SNCA. Interestingly, the patients genetic risk profiles for Alzheimers disease, on the one hand, or Parkinsons disease, on the other, did not overlap.

Although Alzheimers and Parkinsons disease are molecularly and clinically very different disorders, our results support the idea that the problems that cause those diseases may also happen in Lewy body dementia, said Dr. Scholz. The challenge we face in treating these patients is determining which specific problems are causing the dementia. We hope studies like this one will help doctors find precise treatments for each patients condition.

To help with this effort, the team published the genome sequence data from the study on the database of Genotypes and Phenotypes (dbGaP), a National Library of Medicine website that researchers can freely search for new insights into the causes of Lewy body dementia and other disorders.

Article:

Chia, R., et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. Nature Genetics, February 15, 2021 DOI: 10.1038/s41588-021-00785-3

This study was supported in part by the NIH Intramural Research Programs at the National Institute of Neurological Disorders and Stroke (NS003154) and the National Institute on Aging (AG000935).

NINDS (https://www.ninds.nih.gov) is the nations leading funder of research on the brain and nervous system.The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.

About the National Institute on Aging (NIA): NIA leads the U.S. federal government effort to conduct and support research on aging and the health and well-being of older people. Visit the NIA website for information about a range of aging topics inEnglishandSpanish. Learn more about age-related cognitive change and neurodegenerative diseases via its Alzheimer's and related Dementias Education and Referral (ADEAR) Center website. Stay connected with NIA!

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

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Genetics

How two researchers built the first genetics cohort of African children with autism | Spectrum | Autism Research News – Spectrum

Maria Chahrour

Assistant professor, University of Texas Southwestern

President, Reaching Families Advocacy and Support Group

In 2015, Maria Chahrour, assistant professor of genetics and neuroscience at the University of Texas Southwestern Medical Center, began recruiting participants for studies on autism genetics out of her lab in Dallas. Among those who responded were parents and families who had recently immigrated from East Africa. They wanted to join the study, but they had some concerns and questions. So they asked if they could form their own group, in which they could help create the rules around how their data would be collected and used.

The collaboration that bloomed from those conversations created the first cohort of African children with autism one that continues to grow and recruit families around the globe. Chahrour and her research partner, Leah Seyoum-Tesfa, spoke to Spectrum about their experiences forming the cohort and why increasing genetic diversity is vital for autism research. Listen to the interview here, or read the transcript below or download it here.https://s3.amazonaws.com/spectrumnews-web-assets/wp-content/uploads/2021/02/12180920/Spectrum-interview-2.11.21.mp3

Spectrum: Could you both tell me who you are and what you do?

Maria Chahrour: Okay, well, hello, everyone, and thank you for having us. My name is Maria Chahrour. Im an assistant professor at the Eugene McDermott Center and the neuroscience department at UT Southwestern Medical Center in Dallas. My lab studies the genetics of autism. We want to find the genes that cause autism and to study their function in depth, so that we can understand the specific biological pathways that they function in. And ultimately, we hope that our work will inform diagnosis and therapies.

Leah Seyoum-Tesfa: My name is Leah Seyoum-Tesfa. Im originally from Ethiopia. I live in Irving, Texas. I am a mother of four children, two of whom are on the autism spectrum. In 2011, I started a nonprofit organization called Reaching Families Advocacy and Support Group. The purpose of the organization is to work with East African families who have children with intellectual and developmental disabilities. The organization started in Dallas, Texas, but its spread to we have several organizations all over the United States. By training, Im a nurse and I was a nurse practitioner. But I work, currently Im an advocate. I support families in various systems in the medical, educational, as well as the social systems. I also provide community awareness about developmental disabilities all over the United States.

I enjoy working with families; its a very rewarding thing to be able to support families access [to] early intervention and see the progress that children made throughout the year. And I support families also and their children to adulthood.

S: Thank you both for joining us, and you both do really interesting work, so Im excited to talk about how you work together. Could you tell me a little bit about how you first met each other and came to work together?

MC: Sure. So in 2015 I moved to Dallas to start my own lab. And, as I said, a big part of our mission is to identify causative genes in families with autism with a specific focus on Dallas diverse population. So I had an ongoing human genetics study, recruiting local families with autism, and someone from the Ethiopian community in Dallas found out about the study. He actually works at UT Southwestern as well, and he saw one of our flyers and told Leah about the study, and then he introduced us. And I guess, Leah, I would love to hear how that initial reach-out happened for you and what was your impression when you heard about the study?

LS-T: When Dr. Bogale [Aredo], who was the president of [the Ethiopian Health Professionals Association] I am a member of that group reminded me about this study, and he saw the flyer and he showed it to me, I was very interested, because Ive been concerned about the number of children that I see that have, from the East African community, primarily with autism. Ive felt for a while that we are seeing a higher prevalence in our population. And we also see more-affected children in our population. So when he showed me the flyer, I was very interested because our community wants to find out why the higher prevalence and if theres a genetic connection in our community. So I contacted Maria, and our collaboration started from there.

S: How did you come to collaborate rather than just participating in the study? Did you initially set out to want to have a bigger role in the study, or how did that relationship come about?

MC: I was really interested and impressed with everything that Leah had been doing and all of her efforts in her community. And you know, we had all these discussions about what she found with the higher prevalence of autism in East African families as she was working with the community. And we started having more and more of these meetings and discussions, and it sort of organically, I guess, grew into a collaboration. It was, I would say, a mutual learning journey for both of us, you know? I was really fascinated with all of the aspects that she was an expert in. And vice versa, I think.

LS-T: I agree with that. Yeah, it was a learning experience for me as well. Because other than the research that I have done as part of my training at the LEND program I had attended a training in 2013, and my project was on the prevalence of autism in the East African community in Texas. I had taken data from the Texas Education Agency, and I had found that it was a higher prevalence. And this came when I met Maria; I was very interested in studying this further.

S: I think Maria had told me previously that once you wanted to include more people from your community in the study, that there were some questions that came up about participating, and it actually spawned its own separate cohort study instead. Can you tell me about some of those questions that came up? And then how that led to a separate study being made for the African community around autism?

MC: So, as I mentioned, you know, the two of us started meeting and discussing the study designs and what elements we had to take into consideration. So, specifically, the communitys concerns about privacy and data protection and the stigma associated with autism within the community. I visited the community center and church multiple times, spoke to family members about autism and genetics, and about the study that we were running. And, you know, myself and Leah, we answered their questions and addressed their concerns. And I would say, then, we took care of some logistics. Before I go into that maybe Ill let Leah tell you a little bit more about the families specific concerns around these issues.

LS-T: Theres a lot of stigma around it. And people are very careful to admit their children have autism, or a family member. Unfortunately, its associated with mental health issues, and somebody being crazy, or somebody being like an evil spirit. So the stigma around it was a big issue that we have to deal with, and I still deal with in the community. The other concern was lack of knowledge. They didnt know what research would mean. Its not something that weve participated [in] as a community in the DFW area, or even any area that Im aware of as an immigrant community. So doing a study was something new.

S: And DFW, is that Dallas-Fort Worth?

LS-T: Dallas-Fort Worth, Im sorry.

The other piece was, what is going to come with this study? Whats the outcome and what the data was going to be used for?

S: And so, what kind of things did you do, both in the recruiting and in the study design, to kind of allay those concerns?

MC: I would say we really had a lot of discussions. A critical part of this was just meeting with family members, addressing all of their questions, making sure that everyone is comfortable with everything we had in the study forms. Leah had reviewed all of the study forms. And we translated them into Amharic and Tigrinya. And then after we finalized all of these logistics, Leah announced the start of recruitment and enrollment to the community members and the families that she was supporting through the Reach foundation. I would say it took us about two years from when we initially met, to set everything up and have all of these really important and critical discussions with community members so that we can incorporate their feedback, before we actually started actively enrolling participants.

S: Wow, two years. Thats a long time.

MC: Yeah.

S: And so what has the recruitment process been like since then? You know, how many families have you been able to recruit and is it still ongoing? Catch me up to how its been going the last couple of years.

MC: This past year, its been really slow, of course, with everything thats going on with the COVID-19 pandemic. But you know, so far weve enrolled 30 families, I would say, and thats over 120 individuals, and its still very much ongoing and active.

When UT Southwestern shut down earlier in March, human subject research that did not involve a critical procedure was kind of put on hold. So we couldnt bring in study participants for their research appointments. I think that was the main hit. But now, you know, were hoping that things are going to get better, and that were able to deal with all of these logistical issues. Were all adapting, I would say.

S: So, Leah, you told us at the beginning about what Reach does. Can you tell me how that plays a role in the study that you do with Maria?

LS-T: I work by bringing community awareness. I go to several churches before COVID. Now through Zoom, I do community awareness; I teach families about early signs of autism. And the purpose is to get early intervention. At that time, I do offer all the families an opportunity to participate in the study. And not all families are ready to do that. Theyre still trying to accept that their child has autism. Were also going through the difficult diagnostic process, finding a diagnostician and waiting on these long lines with the various providers. So it takes a little bit longer. I think within a year after the diagnosis, a lot of families will agree or decide to participate or not.

So the purpose, as I said, is to provide early intervention and help families, but as part of that I do explain to them about the research and the opportunity to join the research. Like I said, its not every family that chooses to participate. But some families are very interested; some choose to just do a genetic study through their pediatrician or specialist. But thats how we are able to reach families. Now I do have like I said, I started with families in [the] Dallas area but I do have families, we even have some families in Europe, that live in Germany and I think other countries, that were able to participate in this study.

S: Wow. Do you have partners in Europe that sort of help with the recruitment there?

LS-T: No, I do 100 percent of the recruitment, families that I support through accessing interventions. We do have a heavy online presence, and through our website, and through our Facebook and other resources, we provide information. We have monthly educational meetings that are available to any families recorded. We teach them about various things about early intervention, about therapies, about [applied behavior analysis], about all kinds of things, dietary interventions. We have specialists that come and speak to families about, the bigger one is a lot of behavior support. Fortunately, we do have many community members that are in the profession that are able to share this information in Tigrinya and in Amharic that is very accessible to these families. So families from all over the world, we have families in Africa as well, in Asia; people, immigrants, families can access our educational information. And part of that educational information is we had Maria speak about the genetic study, and they can access that and reach Maria at UT Southwestern to participate in the study.

MC: Once we make contact with the families, you know, my study coordinator sort of arranges for the research appointment if theyre local, or otherwise we send them a study kit with instructions of what to do and how to actually collect samples and things like that.

S: And when youre doing this global outreach, are you mostly focused on families from Ethiopia specifically?

MC: So were focusing on East African families, specifically from Ethiopia and Eritrea, although weve had Kenyan and Somali families participate as well. But the vast majority are from Ethiopia and Eritrea.

LS-T: We do support, actually, Kenyan families. Theres not a heavy presence in the DFW area. But we do have a mother that supports the Kenyan families, and through her we were able to recruit a few families I believe, but its heavy Ethiopian, Eritrean immigrant families in the DFW area.

S: And you have a partner in Ethiopia, correct? An organization there that you partner with?

MC: It sort of started as this part of our long-term capacity-building project for autism in Ethiopia. So I got to visit the Joy Autism Center in Addis Ababa in the summer of 2019. And I discussed our study with the center founder, Zemi Yenus. And as part of that trip, I also gave a talk and ran a workshop with colleagues on autism and autism genetics at the Bahir Dar University, and that was geared towards healthcare professionals. So Zemi is interested in collaborating with myself and Leah, but we havent actually started enrolling participants simply because of logistical issues that were caused by the pandemic and the recent political unrest. Of course, we are planning to expand our study and collaborate with colleagues and community partners in Ethiopia. Thats our long-term plan.

S: And so now that its been going on, the studys been going on for a few years, what have you been hearing from families about their experience participating in the study?

MC: I believe theyre excited about the study. Weve had a meeting after we completed the latest batch of sequencing to discuss our preliminary analysis with the community. And were planning for other community update meetings as we finalize our analysis. But I think Leah can speak more to the familys impressions and how motivated they are to participate.

LS-T: The ones that have participated are very eager to know the results. They call me often and say, What have we found? Where are we now? Theyre just eager to find out; the process was very easy. Maria really made it easy in that the kit was sent home; when we were drawing blood, the phlebotomist came to the home to draw the blood. And it was really a very smooth process for a lot of the families, even the ones in Europe. They told me the process was very easy. And were just waiting for the results. Everybodys eager. We are realizing the prevalence; were seeing a lot of our friends and siblings also having children with autism. So thats what we really need to know, if there is a genetic connection here.

S: Im curious if youve seen any kind of shifts, like you mentioned that theres some stigma in the community or just not being as familiar with research studies. Have you seen, anecdotally, shifts from people who have participated in any of those attitudes?

LS-T: You know, I see a change in that even families that have not participated in the study are now very interested in doing that. Initially, people were worried about whats going to happen with the data is my name is going to be available on [the] internet about my child having autism? those kinds of concerns. But now that they know, and Maria has come and explained to us how the data is saved, there are more families interested. Because of COVID, theres a lot going on with the disability community. COVID has been even harder. Families are struggling with kids not attending school. So its kind of been really hard. And then finding even somebody to diagnose the children during this time has been difficult.

But Ive seen a shift. Ive seen a shift in stigma, because theres so many of us, many centers all over the United States, that we are going to the churches and talking about autism. Were in a good place; I think were going in the right direction. Kids are getting help sooner.

S: It sounds like a really powerful community-based approach to doing this kind of science.

MC: Yes, yes, for sure.

LS-T: Definitely. Definitely.

S: And maybe we can talk a little bit about, you know, what youre finding from the study. What kind of gaps is that filling for the science about autism?

MC: Populations in Africa are the most genetically diverse in the world and carry up to three times as many rare variants as, say, populations of European origin. And research so far on the genetics of autism has overwhelmingly focused on people of European ancestry. And, of course, although these studies are extremely valuable to our understanding of this complex genetics of autism, they dont really capture the genetic diversity on the African continent. And this loss of genetic diversity in the current studies really limits our scope of understanding autism.

So because genomic studies so far have been largely focused on European populations and identifying autism variants in these European cohorts, the transferability of these findings to non-European populations is limited.

And then, of course, as genetic findings move into the clinic, this lack of diversity and lack of genetic data from non-European populations translates to healthcare disparities. So when a genetic diagnosis is made in the clinic, its vital to understand the variant in the context of ancestry, because the frequencies of some of these variants are population-specific.

So for clinical genetics to be equitable, it needs to be able to offer patients and their families interpretation that encompasses their specific ancestry. And as a genetics community, the community as a whole recognizes this need for diversity and the need to do more sequencing on the African continent to be able to understand variants in the context of ancestry, and is working to be more inclusive. An example of this, you know, theres a big effort right now thats focused on exactly doing this. And its the Human Heredity and Health in Africa, or the H3Africa consortium, which was conceived to address the paucity of genomics research in Africa. So I think we have a lot to learn from this. We have a lot to find and discover. And we have this amazing opportunity to do this now.

LS-T: We realize theres a very heavy burden of more affected children in our community. I strongly believe in that. Were seeing more kids in our community. Siblings I have a lot of families that have two, three children somewhere on the spectrum. I myself have two kids on the autism spectrum, fraternal twins. So we are very eager to find out what is causing this high incidence of autism in our children. And hopefully, this research will answer some of our questions.

MC: I just want to add to that we are really interested and we set out to see: What is this genetic factor thats predisposing the community to autism? And thats sort of the big question that were going after.

S: When you say theres a higher prevalence in the community, what kind of numbers would you say there are?

MC: Leahs own work on public schools in the state of Texas showed that the prevalence is up to three times higher than the prevalence in the general non-African population. And also, there is one of the sites where the [Centers for Disease Control and Prevention] does the monitoring network for autism is in Minnesota, and they found that the prevalence of autism in the Somali population in Minnesota was, I believe, up to two to three times higher than the general population as well.

So there are all these findings that were pretty much from prevalence studies that were done on immigrant populations outside of Africa because, unfortunately, I believe there are only two prevalence studies for autism in Africa one out of Uganda and one out of Nigeria. You know, of course, depending on who you ask, there might be other factors that influence or result in this higher prevalence. And of course, these prevalence studies on immigrant populations are smaller than what you would typically see from other prevalence studies. But we think its a start. We think that in the meantime, we can do something with the information that we already have. And you know, as a geneticist, Im really interested in the genetic risk factors. Although were not eliminating other hypotheses, of course, but were testing our hypothesis that there is a genetic risk factor in this community

LS-T: And the study that I did, it wasnt published, but it was part of my report. In the Amharic-speaking population, we saw 1 in 40. In the Tigrinya-speaking, we saw 1 in 51. And in the Ethiopic they call it Ethiopic because theres other languages spoken in Ethiopia, including Amharic, Tigrinya, Oromo 1 in 22 children had autism.

And then in the whole Texas population, at that time is 1 in 167 children were identified educational identification of autism, with my research. And then, as Maria mentioned, we reviewed a lot of studies that were done in Europe. And theres also a study out of California that showed higher prevalence in immigrant families who have children with autism who are African American. The European studies looked in depth about East African families. There was also a New Zealand and Australian study that had higher prevalence in our community.

S: Wow, those are some very big discrepancies. Very big differences.

LS-T: There was, there was. And you know, the other thing is, this is in educationally identified children. They were looking at the children that are, they tend to identify the more affected children. And the kids that are less affected are not identified, even so in our community, because parents dont want their children identified. If theres a little bit of, you know, social problems, and the kids end up being verbal, they usually dont want their kids identified. These are kids that have significant disability and are often educated separately in a self-contained classroom.

So were looking at even a much higher rate in our community, because were not always identifying all the children. This was, if you look at the Somali study in Minnesota, the first study came out in 2014. Those identified were 100 percent of those children had intellectual disability. Whereas a much lesser number of children in the Minnesota study of the other races had intellectual disability. What that tells me, and I think the researchers concluded, is that were not identifying those kids that are less affected in these communities. Were just looking at those with intellectual disability that are easily identified in the school system.

MC: Yeah, yeah. So, you know, basically, were missing a lot of kids who are more mildly affected. And I think that, again, speaks to this really big need for doing comprehensive prevalence studies in Africa.

LS-T: Definitely, definitely.

S: And does your genetic study mostly then lean toward having people who have intellectual disability? Or are you also working to identify those less affected kids and get them in the study as well?

MC: So we do have kids on both ends of the spectrum, I would say. Its because these families were primarily identified through Leahs efforts in the Reach foundation, and she works with all kinds of kids on the spectrum. So, you know, we are enrolling everyone at this point, yeah.

LS-T: We do have the same, even people, families that come to me for help, usually have more affected children. These kids are identified early on; usually theyre all over the spectrum. But the older kids that are identified usually are more significantly affected that come to me for help.

S: So just thinking about the more broad need in the field to have greater diversity in genetic studies, are there any kind of lessons that you think youve learned in creating and working on this cohort that might inform other researchers about how to increase diversity in genetic studies?

MC: Yes, this is a big question. And we could both go on and on. So we certainly learned a lot. For one, we need to continue doing this and expand our study to enroll more participants and sequence more genomes. And the genetic diversity on the African continent can teach us a lot about the genetics of autism and about the biological pathways and mechanisms underlying the disorder.

We learned that theres still a lot of stigma associated with having autism in many communities. And we need to really be diligent about removing that stigma and spreading the right information so that we can empower families to deal with this in their communities. And we need to listen to, understand and respect the communities concerns. And we need to work together. It has to be a true partnership between scientists and parents for us to be successful. We also learned that a lot of these families are facing and dealing with the burdens of autism without much support. So participating in research studies may not necessarily be a top priority when you dont have access to basic services.

LS-T: Yeah. You said it really well, Maria. Families are struggling, caring for the kids and accessing resources. Sometimes research is not a priority for them. I think the fact that Maria was able to come and explain everything really well for us, that was very helpful. And she also had an opportunity to come back and update us about where the research is. And we were able to recruit more families after that.

I think just understanding their culture and the stigma around it was very good for Maria to understand and work with us [and make] research easy for the families. She accommodated the needs of the families, because it would have been very hard for the families to take their kids to have their blood drawn, the whole family; she made that very easier. And those things are very important. Making things very accessible for the families and continuing to communicate with them. Its very important, especially for communities that are not, might not have a lot of knowledge about research.

S: Great. Well, this has been a really fascinating discussion about your work. Im really curious to see where it goes in the next couple of years.

MC: Thank you. Yeah, were both really excited about this, and hopeful.

LS-T: And thank you for giving us the opportunity to share our research and about our concern in our community.

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How two researchers built the first genetics cohort of African children with autism | Spectrum | Autism Research News - Spectrum

Genetics

BioIQ Partners with Fulgent Genetics to Bring COVID-19 Variant Detection to COVID-19 Testing Programs – Yahoo Finance

The groundbreaking viral genome sequencing and reflex testing solution identifies various COVID-19 variant strains, enabling employers, health plans, and public health agencies to optimize surveillance, treatment and vaccination protocol to mitigate spread of the virus more effectively.

BioIQ, an analytics-driven population health engagement and testing platform company for top employers and health plans, announces a partnership with Fulgent Genetics, Inc. (NASDAQ: FLGT), a technology company providing comprehensive testing solutions, to offer viral genome sequencing capable of identifying various variants of the COVID-19 virus.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20210216005842/en/

Fulgent Genetics full viral genome sequencing is a new and rapidly evolving tool that better characterizes COVID-19 infections and the consequences of new variants in the population. The partnership makes it possible for BioIQ employer, government, and health plan customers to leverage Fulgent Genetics testing solution to inform testing regimens, clinical treatment protocols and vaccination strategies pursuant to the identified COVID-19 variant. Local public health agencies can similarly leverage the testing solution in ongoing population infection surveillance programs with BioIQ.

"With new COVID-19 variants emerging around the globe, there is growing concern that higher infectivity in some strains may result in faster spread of the virus," noted Justin Bellante, BioIQ Founder, President, and COO. "This tool will be an important addition in the diagnostic armamentarium against COVID-19 by enabling BioIQ and its customers to more rapidly identify and quarantine individuals in cases where more infectious variants are present."

"Fulgent Genetics full viral genome sequencing offering for COVID-19 leverages our capabilities in Next Generation Sequencing and represents the next evolution in COVID-19 diagnostics, complementing our extensive RT-PCR based tests for the virus," said Dr. Harry Gao, Chief Scientific Officer of Fulgent Genetics. "Some variants spread faster than others, warranting a more rigorous testing protocol in populations where that strain is identified. COVID-19 vaccine effectiveness is also dependent on the virus variant. Identification of specific COVID-19 variants will enable BioIQ and its customers to implement the most effective plan of action for responding to and mitigating the spread of COVID-19."

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"The addition of Fulgent Genetics variant testing solution to BioIQs COVID-19 testing framework brings unparalleled triage intelligence to testing efforts," said Sean Slovenski, BioIQ CEO. "We remain committed to integrating the latest, cutting-edge advancements in COVID-19 diagnostics into our testing ecosystem to support the most effective and responsible response to the pandemic through best-practice population health protocol."

Addition of the Fulgent variant test to the BioIQ digital diagnostic testing ecosystem is the latest announcement in an ever-growing lineup of resources designed to help employers, health plans, and public health agencies respond to the COVID-19 epidemic. Since the onset of the pandemic, BioIQ has continuously brought cutting-edge COVID-19 testing solutions to market. From saliva-based tests; to combined COVID-19 and flu panel tests; to mobile, on-site testing; and now variant detection; the company continues to lead the market in COVID-19 diagnostics and program management solutions.

BioIQs COVID-19 and infectious disease platform encompasses on-site, retail, and home self-collection workflows across a variety of test types within a consumer friendly, digital experience. The BioIQ framework helps employers, health plans, and local public health agencies gain access to a national network of testing options; implement convenient, analytics-driven programs to efficiently facilitate testing; and monitor and manage the patient testing journey from end-to-end.

To learn more about BioIQs COVID-19 testing programs and solutions, as well as other services to protect workforces and communities, visit http://www.bioiq.com.

About BioIQ

BioIQ is modernizing the diagnostic testing industry through a national network of labs and customized solutions that support payors, employers, and consumers. By aggregating testing solutions, optimizing lab capacity, and integrating testing with customers needs and strategies, BioIQ ensures resilience and reliability so that employers and payors can protect workforces and members. With its first-of-its-kind health connectivity platform, BioIQ is uniquely positioned at the convergence of population health and the consumerization and retailization of healthcare to drive the shift to value-based care for payers and employers. Since 2005, BioIQ has launched thousands of successful health testing programs serving millions of participants. For more information, visit http://www.bioiq.com.

About Fulgent Genetics

Fulgent Genetics proprietary technology platform has created a broad, flexible test menu and the ability to continually expand and improve its proprietary genetic reference library while maintaining accessible pricing, high accuracy and competitive turnaround times. Combining next generation sequencing ("NGS") with its technology platform, the company performs full-gene sequencing with deletion/duplication analysis in an array of panels that can be tailored to meet specific customer needs. Since March 2020, the company has commercially launched several tests for the detection of SARS-CoV-2, the virus that causes the novel coronavirus ("COVID-19"), including NGS and reverse transcription polymerase chain reaction ("RT-PCR") based tests. A cornerstone of the companys business is its ability to provide expansive options and flexibility for all clients unique testing needs through a comprehensive technology offering including cloud computing, pipeline services, record management, web portal services, clinical workflow, sequencing as a service and automated lab services.

View source version on businesswire.com: https://www.businesswire.com/news/home/20210216005842/en/

Contacts

BioIQ Contact: Judson PhillipsVP Marketing805-504-8586 x 7jphillips@bioiq.com

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BioIQ Partners with Fulgent Genetics to Bring COVID-19 Variant Detection to COVID-19 Testing Programs - Yahoo Finance

Genetics

Genetic variant inherited from Neanderthals associated with protection against severe COVID-19 – News-Medical.Net

SARS-CoV-2, the virus that causes COVID-19, impacts people in different ways after infection. Some experience only mild or no symptoms at all while others become sick enough to require hospitalization and may develop respiratory failure and die.

Now, researchers at the Okinawa Institute of Science and Technology Graduate University (OIST) in Japan and the Max Planck Institute for Evolutionary Biology in Germany have found that a group of genes that reduces the risk of a person becoming seriously ill with COVID-19 by around 20% is inherited from Neanderthals.

Of course, other factors such as advanced age or underlying conditions such as diabetes have a significant impact on how ill an infected individual may become. But genetic factors also play an important role and some of these have been contributed to present-day people by Neanderthals."

Professor Svante Pbo, Human Evolutionary Genomics Unit, OIST

Last year, Professor Svante Pbo and his colleague Professor Hugo Zeberg reported in Nature that the greatest genetic risk factor so far identified, doubling the risk to develop severe COVID-19 when infected by the virus, had been inherited from Neanderthals.

Their latest research builds on a new study, published in December last year from the Genetics of Mortality in Critical Care (GenOMICC) consortium in the UK, which collected genome sequences of 2,244 people who developed severe COVID-19. This UK study pinpointed additional genetic regions on four chromosomes that impact how individuals respond to the virus.

Now, in a study published today in PNAS, Professor Pbo and Professor Zeberg show that one of the newly identified regions carries a variant that is almost identical to those found in three Neanderthals - a ~50,000-year-old Neanderthal from Croatia, and two Neanderthals, one around 70,000 years old and the other around 120,000 years old, from Southern Siberia.

Surprisingly, this second genetic factor influences COVID-19 outcomes in the opposite direction to the first genetic factor, providing protection rather than increasing the risk to develop severe COVID-19. The variant is located on chromosome 12 and reduces the risk that an individual will require intensive care after infection by about 22%.

"It's quite amazing that despite Neanderthals becoming extinct around 40,000 years ago, their immune system still influences us in both positive and negative ways today," said Professor Pbo.

To try to understand how this variant affects COVID-19 outcomes, the research team took a closer look at the genes located in this region. They found that three genes in this region, called OAS, code for enzymes that are produced upon viral infection and in turn activate other enzymes that degrade viral genomes in infected cells.

"It seems that the enzymes encoded by the Neanderthal variant are more efficient, reducing the chance of severe consequences to SARS-CoV-2 infections," Professor Pbo explained.

The researchers also studied how the newly discovered Neanderthal-like genetic variants changed in frequency after ending up in modern humans some 60,000 years ago.

To do this, they used genomic information retrieved by different research groups from thousands of human skeletons of varying ages.

They found that the variant increased in frequency after the last Ice Age and then increased in frequency again during the past millennium. As a result, today it occurs in about half of people living outside Africa and in around 30% of people in Japan. In contrast, the researchers previously found that the major risk variant inherited from Neanderthals is almost absent in Japan.

"The rise in the frequency of this protective Neanderthal variant suggests that it may have been beneficial also in the past, maybe during other disease outbreaks caused by RNA viruses," said Professor Pbo.

Source:

Journal reference:

Zeberg, H & Pbo, S (2021) A genomic region associated with protection against severe COVID-19 is inherited from Neandertals. PNAS. doi.org/10.1073/pnas.2026309118.

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Genetic variant inherited from Neanderthals associated with protection against severe COVID-19 - News-Medical.Net

Genetics

Massive National Health Study Looks to Tailor Your Diet to Your Genetic Makeup – Singularity Hub

Like taxes and death, nutrition is something we cant escape. Eating should be easy. Yet its also massively confusing, prone to misinformation, and utterly personal.

Take competitive eaters who regularly chow down on thousands of calories without gaining weight. Compare them to people who pack on pounds just looking at a French fry. Or compare people who can tolerate any food to those who are sensitive or allergic to entire food groups. Or people who thrive on a high-fat diet like keto, to unfortunate souls whowith the same dietneed to stay close to the bathroom.

You get the idea: no one diet fits all. Yet nutrition science has long relied on averages to make dietary recommendations. From the 80s fat is bad paradigm to todays sugar is horrible trend, its always been easy to vilify one food component, without digging into how each of us interact with the foodstuff we eat.

Now, thanks to a massive new project led by the National Institutes of Health (NIH), nutrition science is about to get the precision treatment. With a price tag of $156 million, the five-year-long study will examine how 10,000 Americans process food. The program, Nutrition for Precision Health, isnt pulling punches. Each person will be given a highly controlled diet to reduce variability. Theyll then be thoroughly monitored for everything from blood sugar levels to their genes, proteins, and gut microbiome composition. Using the massive dataset, the program can then develop AI-based algorithms to predict individual responses to foods and diets.

If successful, we may soon have a scientifically-proven way of optimizing our diet and health based on our genes and gut microbes. While the culinary astronauts among us may cringe at the idea, for those with metabolic disorders or food intolerances, the algorithms are a powerful tool to aid nutritionists in prescribing diets to those who seek help.

Nutrition science has had a bit of a fuzzy reputation. But its not through any fault of its own. The field faces two major unenviable challenges: one, the results are the average of entire study populations, and two, humans hate sticking to a strict diet for long enough to get consistent results. Ever tried a 14-day diet? Now imagine doing it for five years.

As Paul Coates, vice president of the American Society of Nutrition puts it, were all free-range eaters, which mucks up the resulting data.

Thats not to say classic nutrition science hasnt had major wins. Take the Framingham Heart Study, which launched in 1948 with over 5,000 people to better understand heart and blood vessel health. The study was a first population-level triumph in linking diet to cardiovascular diseases, which remains one of the top killers today.

But to NIHs director Dr. Francis Collins, its high time to bring nutrition science into the 21st century. In May 2020, the agency released a 10-year plan to dig into the nitty-gritty of nutrition, tackling the what, when, why, and how to eat to optimize health and reduce chronic health plagues such as diabetes, obesity, and heart disease.

Its looking to be a wild ride. For example, the ambitious effort doesnt just focus on the gut. Thanks to new research showing intimate connection between the gut and the braindubbed the gut-brain connectionthe plan also embraces neuroscience as a component. Given the link between longevity and diet, itll also study the role of nutrition across our lifespans, or even how to use food as medicine.

And underlying all these fundamental questions? Personalization: how each of us responds to the food we eat.

The new program will be housed under the NIHs flagship health project, All of Us. The research program aims to recruit one million people under its banner to build a Google Earth-style database of biology, health, lifestyle, and disease. The key is individuality: forget average treatments, personalization is the future.

To Dr. Griffin Rodgers, director of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDKK), now is the perfect time to explore precision nutrition. In a presentation last September, he laid out why. Were beginning to understand how the microbiome influences health. We can rapidly perform multi-omics studiesthat is, look at a persons whole system of genes, proteins, and metabolism. AI and machine learning make it easier to analyze these massive datasets. Finally, digital health tech, offered through smartphones or smartwatches, makes everyday health tracking simple and affordable.

The project is planned in three stages. Roughly 10,000 volunteers from All of Us will wear various monitorssimilar to Fitbitsto track their usual diets, physical activity, and blood sugar levels, creating a baseline. In the second stage, a subset of participants will regularly visit a clinic. There, theyll be given a controlled, specific meal, and be monitored for a series of biomarkers such as how their blood sugar levels change.

Another subset of volunteers will be given three different types of diets, one following another with a washout perioda breakin between. The prepared study foods will be eaten at home, so the participants can go about their daily lives.

Finally, up to 1,000 volunteers will stay at a clinic for three two-week-long holidays. Here, their three meals will be strictly controlled, and outside food not allowed. While seemingly harsh, going from free range to controlled is the gold standard for nutrition science, because it weeds out other variables.

While on the diet, all three groups will undergo a series of clinical tests, ranging from genetics and microbiome composition to blood sugar levels, metabolism, and urine. Psychology and behavior measures will also be assessed. Further on the docket are socioeconomic factors, such as zip code.

With these comprehensive measures, we are removing a lot of that noise that we had for years, created by the factors that we were not measuring before, said Dr. Jos Ordovs, a nutrition scientist at Tufts University.

As the study gathers data, on the back end, software engineers will begin building an infrastructure for storing, organizing, and searching the datasets. This library of data is then passed on to AI scientists to create models and algorithms that predict a persons individual response to a diet. Finally, another five-year period will validate those models in clinical trials.

Its not the first time a study has linked precision nutrition with AI. In 2015, an Israeli study of 800 people monitored their blood sugar levels and microbiome to parse out how individuals respond to different types of sugar intake. Using machine learning, the study built a software program to predict diets best suited for someone who is diabetic or hoping to lose weight.

But Nutrition for Precision Health is larger and far more sweeping than anything previously attempted. For now, the program is still at the planning stage, with a full launch expected in early 2023.

To Rodgers, the study isnt just about generating a wealth of data to fuel discovery science for years to come. The resulting tools, methods, and paradigm shift will have the potential to truly transform the field of nutrition science, he said.

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Massive National Health Study Looks to Tailor Your Diet to Your Genetic Makeup - Singularity Hub