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Archive for the ‘Genetics’ Category

What’s on TV Tuesday: ‘The Genetic Detective’; coronavirus – Los Angeles Times

Monday, May 25th, 2020

During the coronavirus crisis, the Los Angeles Times is making some temporary changes to our print sections. The prime-time TV grid is on hiatus in print but an expanded version is available in your daily Times eNewspaper. You can also find a printable PDF online: latimes.com/whats-on-tv.

Americas Got Talent Simon Cowell, Heidi Klum, Howie Mandel and host Terry Crews return with new judge Sofia Vergara in the season premiere of the unscripted competition. 8 p.m. NBC

DCs Stargirl After Courtney (Brec Bassinger) has an unexpected run-in with a member of the Injustice Society of America, Pat (Luke Wilson) reveals the truth to her about their history in a new episode of this superhero series. 8 p.m. CW

Deadliest Catch In this new episode Junior makes the risky decision to venture into Russian waters in his quest for golden crab, while cocaptains Jake and Johnathan try to broker an alliance with longtime rival Keith Colburn. 8 p.m. Discovery

DCs Legends of Tomorrow The Legends are scattered into different TV shows in this new episode. 9 p.m. CW

Chopped The competing chefs get a pork theme in this new episode of the culinary competition. 9 p.m. Food Network

Grant As the Civil War continues, Ulysses S. Grant takes incredible risks and becomes Abraham Lincolns favorite general. 9 p.m. History

World of Dance Contestants must perform in a stripped-down warehouse to prove they have what it takes for this unscripted competition series. Jennifer Lopez, Derek Hough and Ne-Yo are the judges. (N) 10 p.m. NBC

The Genetic Detective Investigative genetic genealogist CeCe Mooreworks with the Seattle areas Snohomish County Sheriffs Office on a double homicide from 1987 in the premiere of this documentary series. (N) 10 p.m. ABC

Supermarket Stakeout Four chefs are handing out cash to shoppers in Glendale as they compete to make the best barbecue dish in this new episode. 10 p.m. Food Network

REAL Sports With Bryant Gumbel This new episode is a virtual roundtable discussion with professional players association officials DeMaurice Smith (NFL), Michele Roberts (NBA) and Tony Clark (MLB) to discuss the impact of the COVID-19 pandemic on their games and the restart of professional sports in America. 10 p.m. HBO

Kingdom of the Mummies A team of archaeologists led by Ramadan Hussein makes the discovery of a lifetime. (N) 10:03 p.m. National Geographic

Space X: Journey To the Future (N) 10 p.m. Discovery

Coronavirus Pandemic (N) 8 and 9 a.m. CNN

Coronavirus Update (N) Noon CW

Pandemic: What You Need to Know Noon ABC

Coronavirus Crisis (N) 7 p.m. Fox

CBS This Morning Sen. Joni Ernst (R-Iowa). (N) 7 a.m. KCBS

Today (N) 7 a.m. KNBC

KTLA Morning News (N) 7 a.m. KTLA

Good Morning America Tracee Ellis Ross; Adam Rippon; Tory Johnson. (N) 7 a.m. KABC

Good Day L.A. (N) 7 a.m. KTTV

Live With Kelly and Ryan Keegan-Michael Key (Game On!); Madison Beer performs. (N) 9 a.m. KABC

The View (N) 10 a.m. KABC

Rachael Ray Clinton Kelly. (N) 10 a.m. KTTV

The Talk (N) 1 p.m. KCBS

Tamron Hall Janelle Mone (Homecoming); dancer Misty Copeland, Swans for a Relief. (N) 1 p.m. KABC

The Real Guest host Eva Marcille. (N) 1 p.m. KTTV

The Kelly Clarkson Show Joel McHale; Grace Byers; Duff Goldman cake demo. (N) 2 p.m. KNBC

The Ellen DeGeneres Show Howie Mandel; Sarah Cooper. (N) 3 p.m. KNBC

Amanpour and Company (N) 11 p.m. KCET; midnight KVCR; 1 a.m. KLCS

The Tonight Show Starring Jimmy Fallon Jennifer Lopez; Michelle Obama; Brad Pitt. (N) 11:34 p.m. KNBC

The Late Show With Stephen Colbert Andrew Cuomo; Christine and the Queens perform. 11:35 p.m. KCBS

Jimmy Kimmel Live! (N) 11:35 p.m. KABC

Nightline (N) 12:06 a.m. KABC

Cry Freedom (1987) 8:48 a.m. Encore

Dont Think Twice (2016) 8:59 a.m. Starz

A Bronx Tale (1993) 9 a.m. AMC

Total Recall (1990) 9 a.m. IFC

I Know Where Im Going! (1945) 9:15 a.m. TCM

Chocolat (2000) 9:35 a.m. HBO

While You Were Sleeping (1995) 10 a.m. Showtime

The Birds (1963) 10 a.m. Sundance

Black Hawk Down (2001) 10:33 a.m. Starz

The Game (1997) 11:29 a.m. Encore

Fury (2014) 11:30 a.m. AMC

Ice Age (2002) 11:30 a.m. Freeform

Jaws (1975) 11:40 a.m. HBO

Overlord (2018) 1:25 p.m. Epix

Hook (1991) 1:30 p.m. Freeform

Far and Away (1992) 1:40 p.m. Cinemax

Undercover Brother (2002) 1:59 p.m. Starz

American Sniper (2014) 2:30 p.m. AMC

Harry Potter and the Deathly Hallows: Part 1 (2010) 2:50 p.m. Syfy

Travels With My Aunt (1972) 3 p.m. TCM

The Cider House Rules (1999) 3:27 p.m. Starz

8 Mile (2002) 3:30 p.m. VH1

Unstoppable (2010) 4 p.m. HBO

The Negotiator (1998) 4 p.m. Ovation

Men of Honor (2000) 4 and 6:30 p.m. WGN America

Despicable Me (2010) 4:40 p.m. Freeform

Crawl (2019) 4:55 p.m. Epix

Incendiary Blonde (1945) 5 p.m. TCM

Wonder Woman (2017) 5 p.m. TNT

Top Gun (1986) 5:30 p.m. AMC

The Meddler (2015) 5:34 p.m. Starz

First Man (2018) 5:35 p.m. Cinemax

Harry Potter and the Deathly Hallows: Part 2 (2011) 6:05 p.m. Syfy

Despicable Me 2 (2013) 6:45 p.m. Freeform

Lady Sings the Blues (1972) 7:15 p.m. TCM

Drag Me to Hell (2009) 7:19 p.m. Encore

John Wick: Chapter 3 Parabellum (2019) 7:45 p.m. HBO

Ghost (1990) 8 and 11 p.m. BBC America

The Cabin in the Woods (2011) 8 p.m. Epix

The Hangover (2009) 8 p.m. IFC

Shrek (2001) 8:55 p.m. Freeform

The Usual Suspects (1995) 9 p.m. Ovation

Funny Girl (1968) 10 p.m. TCM

Star Trek (2009) 11:05 p.m. AMC

The Descent (2005) 11:05 p.m. Epix

The Professional (1994) 11:30 p.m. Ovation

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What's on TV Tuesday: 'The Genetic Detective'; coronavirus - Los Angeles Times

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Gene for "Thinness" Identified that May Help to Resist Weight Gain – Genetic Engineering & Biotechnology News

Monday, May 25th, 2020

An international research team has identified a candidate thinness gene that could help to explain why some people can seemingly stay slim no matter what they eat. A genetic association study that analyzed data from more than 47,000 people in an Estonian biobank implicated ALK as a key gene that may regulate thinness and play a role in resisting weight gain in metabolically healthy thin people. Further studies in animal models showed that deleting ALK resulted in thinner flies and thinner mice, and demonstrated that ALK expression in the brain may be involved in regulating energy expenditure.

ALK is already a recognized anticancer target, and the researchers suggest that targeting the gene may represent a future therapeutic strategy against obesity. If you think about it, its realistic that we could shut down ALK and reduce ALK function to see if we did stay skinny, said Josef Penninger, PhD, director of the Life Sciences Institute and professor of the department of medical genetics at the University of British Columbia. ALK inhibitors are used in cancer treatments already. Its targetable. We could possibly inhibit ALK, and we actually will try to do this in the future. Penninger is senior author of the teams published paper in Cell, which is titled, Identification of ALK in Thinness. The reported studies involved a multidisciplinary team of researchers in Austria, Switzerland, Estonia, China, Australia, Canada, and Sweden, and the U.S.

Theres considerable variability in how susceptible different people are to putting on weight. We all know these people: its around one percent of the population, said Penninger. They can eat whatever they want and be metabolically healthy. They eat a lot, they dont do squats all the time, but they just dont gain weight.

Body mass index (BMI), which is commonly used to classify weight categories, is a highly complex trait that is impacted by genes and environmental cues, the researchers wrote. And while more than 700 common single nucleotide polymorphisms (SNPs) have been linked with BMI, only a limited number of genes involved in regulating human body weight have been identified and validated. To date, most studies have focused on susceptibility to obesity, and only a few have looked at the genetic basis of thinness in humans or animal models. Everybody studies obesity and the genetics of obesity, Penninger pointed out. We thought, Lets just turn it around and start a new research field. Lets study thinness.

To do this Penningers team analyzed data from the Estonian Biobank, which includes 47,102 people aged 2044 years. The investigators carried out a genome-wide association study (GWAS) to compare the DNA samples and clinical data of healthy thin individualswho were in the lowest 6th percentilewith normal-weight individuals, in the search for genetic variants linked with thinness. Their results highlighted genetic variants in the ALK gene that were specific to the thin individuals.

Scientists have known that the ALK gene frequently mutates in various types of cancer, and while it is viewed as an oncogene that can drive the development of tumors, the role of ALK outside of cancer isnt understood. ALK has been extensively studied in cancer, but little is known about the biological role of ALK outside the context of cancer, they wrote. The new finding suggested that the ALK gene might play a role as a thinness gene involved in weight-gain resistance.

The researchers investigated the association between ALK and thinness through a series of studies in Drosophila fruit flies, and in mice. Their experiments demonstrated that mice in which the ALK gene was knocked out remained thin and were resistant to diet-induced obesity. Intriguingly, Alk knockout mice were significantly protected against HFD-induced obesity, the researchers wrote. ALK deficiency was also linked with reduced weight gain in a genetic obesity mouse model. Even when the ALK knockout mice had the same diet and activity levels as normal mice, they still demonstrated lower body weight and body fat from an early age, which persisted into adulthood.

Further studies in mice suggested that ALK, which is highly expressed in the brain, plays a role in instructing the fat tissues to burn more fat from food. Expression analysis revealed high Alk mRNA levels in the hypothalamus, especially in the PVN, which is also true for humans, the investigators wrote. Mechanistically, we found that ALK expression in hypothalamic neurons controls energy expenditure via sympathetic control of adipose tissue lipolysis Our genetic and mechanistic experiments identify ALK as a thinness gene, which is involved in the resistance to weight gain.

The findings could help scientists develop therapeutics against ALK as a future strategy against obesity. The team also plans to further study how neurons that express ALK regulate the brain at a molecular level to balance metabolism and promote thinness.

The Estonian Biobank that the team studied was ideal because of its wide age range and its strong phenotype data. We took advantage of the wide age range of the unique Estonian biobank recruitment as well as its strong phenotypic datasets, making ECGUT [Estonian Genome Center of the University of Tartu] an ideal starting point to identify potential variants and genes playing a role in thinness, the scientists noted. Even so, one limitation for replicating these findings is that biobanks that collect biological or medical data and tissue samples dont have a universal standard in data collection, which makes comparability a challenge. The researchers say they will need to confirm their findings with other data banks through meta-analyses. You learn a lot from biobanks, said Penninger. But, like everything, its not the ultimate answer to life, but theyre the starting points and very good points for confirmation, very important links and associations to human health.

The team suggests its work is unique in its combination of populationand genome-wide-scale analyses into the genetic basis of thinness, with in vivo analyses of gene function in mice and flies. Its great to bring together different groups, from nutrition to biobanking, to hardcore mouse and fly genetics, stated Penninger. Together, this is one story including evolutionary trees in metabolism, the evolutionary role of ALK, human evidence, and hardcore biochemistry and genetics to provide causal evidence.

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Gene for "Thinness" Identified that May Help to Resist Weight Gain - Genetic Engineering & Biotechnology News

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Is Applied Genetic Technologies (AGTC) Outperforming Other Medical Stocks This Year? – Yahoo Finance

Monday, May 25th, 2020

Investors focused on the Medical space have likely heard of Applied Genetic Technologies (AGTC), but is the stock performing well in comparison to the rest of its sector peers? Let's take a closer look at the stock's year-to-date performance to find out.

Applied Genetic Technologies is one of 889 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 emphasizes earnings estimates and estimate revisions to find stocks with improving earnings outlooks. This system has a long record of success, and these stocks tend to be on track to beat the market over the next one to three months. AGTC is currently sporting a Zacks Rank of #1 (Strong Buy).

Over the past three months, the Zacks Consensus Estimate for AGTC's full-year earnings has moved 11.64% higher. This is a sign of improving analyst sentiment and a positive earnings outlook trend.

According to our latest data, AGTC has moved about 1.77% on a year-to-date basis. Meanwhile, the Medical sector has returned an average of -1.66% on a year-to-date basis. This means that Applied Genetic Technologies is outperforming the sector as a whole this year.

To break things down more, AGTC belongs to the Medical - Biomedical and Genetics industry, a group that includes 382 individual companies and currently sits at #16 in the Zacks Industry Rank. On average, this group has gained an average of 8.25% so far this year, meaning that AGTC is slightly underperforming its industry in terms of year-to-date returns.

Investors in the Medical sector will want to keep a close eye on AGTC as it attempts to continue its solid performance.

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Is Applied Genetic Technologies (AGTC) Outperforming Other Medical Stocks This Year? - Yahoo Finance

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Coronavirus: BAME deaths urgently need to be understood, including any potential genetic component – The Conversation UK

Monday, May 25th, 2020

The difference in COVID-19 death rates between white people and black, Asian and minority ethnic (BAME) people in the UK is shocking. One recent report found that, between the beginning of February and the end of April 2020, black people in England were 71% more likely than white people to die from COVID-19. And Asian people were 62% more likely.

This disparity has led to an inquiry by Public Health England and funding for urgent academic research into the issue. We expect many factors to be involved, including the disadvantages that BAME people face due to greater chances of poverty and health issues.

But its important that we examine whether there may also be a genetic component to the problem in order to fully understand whats going on. My colleagues and I are conducting research among frontline healthcare workers to try to see if there are any innate differences in the way different peoples immune systems respond to this specific virus, including genetic differences that may be associated with ethnicity.

Researchers have identified a greater chance of dying from COVID-19 among BAME people in several countries aside from the UK, including Norway and the US. There are many social reasons why ethnic minorities may generally be more vulnerable to disease, including a greater chance of malnutrition, more exposure to pollution due to where they live, or greater likelihood of working in less healthy environments.

Inequality and poverty also play a role in the fact that BAME people are more likely to suffer conditions that we know are linked to a greater chance of dying from COVID-19, such as diabetes and heart disease.

Initial data suggests that BAME healthcare workers are more likely to die from COVID-19 than their white colleagues. British Medical Association research has found that BAME doctors are twice as likely as white doctors to feel pressured into working with inadequate PPE when they are at risk of infection. And they are twice as likely not to feel confident enough to raise concerns about workplace safety.

However, all these established facts alone dont seem to explain why the risks of COVID-19 vary between different ethnic groups and are lowest among white people. This is particularly the case when we compare it with other forms of viral pneumonia that do not lead to such a difference.

The study that found BAME people in England were more likely to die from the disease accounted for differences in some underlying health conditions that are strongly linked to social issues, suggesting these werent the main factor. But the preliminary results from another study suggest ethnic minorities arent more likely to die once other factors linked to deprivation are taken into account.

To clarify this issue, its important to examine whether there may be some genetic component that predisposes ethnic minorities to a higher risk to COVID-19, while still recognising the critical role of other factors.

The way peoples immune systems work depends on genetic factors, not just environmental and social ones. There are effectively two parts to our immune systems. One is the part that produces antibodies, called the adaptive immune system. When our body has never seen a virus before, it can take several days for it to produce them, which is why some people get sick in the first place.

We also have an innate immune system that acts before our body has had time to make antibodies. This system is strong in children and young people, but not very good after the age of 65. This is likely to be one reason why older people are at higher risk of dying of COVID-19.

When a virus like the coronavirus SARS-CoV-2 enters a cell, molecules called toll-like receptors, or TLRs, alert the immune system that something potentially harmful is present. Interestingly, many of the bodys TLRs that can detect viruses come from genetic instructions found in the X chromosome, for which men have only one copy and women two.

We know that women can have a more effective innate immune response to other viruses such as HIV than men, and that oestrogen, the female hormone, enhances this type of immune response. We also know that women are less likely to die from COVID-19 than men.

Just as there are variations in DNA that are responsible for the differences in response of immune cells between the sexes, there can also be variations between people of different ethnic backgrounds. For example, the amount and type of genes that immune cells produce when the TLR-virus pathway is stimulated, are very different between people of African and of European origin.

This is not surprising, because we know that human populations from different parts of the planet have had to adapt to different types of infections. Ethnic differences in the risk to other respiratory viral diseases have been linked to genetic variation, and these variants are different in BAME groups and white people in these same pathways. However, the role of ethnicity in genetic susceptibility to viral diseases is still controversial.

We want to see if it could be a factor in the higher rate of BAME deaths from COVID-19. To do this, we are taking blood from frontline healthcare workers of a variety of ethnic backgrounds, assessing DNA differences and measuring the various substances the samples contain. The results could indicate if differences in the innate immune systems of BAME groups result in higher risk of developing severe COVID-19.

If there is some genetic element to the different death rates from COVID-19 between ethnic groups, its important that we understand it to give us the best chance of fighting the disease. For example, if we do find that the way the innate immune system works plays a role, we can advise people on ways to improve that system, such as through what we eat.

But that wont change the fact that the generally worse health among BAME groups in western societies is strongly linked to socioeconomic factors that are known to play a very significant role in this pandemic.

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Coronavirus: BAME deaths urgently need to be understood, including any potential genetic component - The Conversation UK

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Girl, 12, diagnosed with rare genetic condition following visit to Specsavers – Mirror Online

Monday, May 25th, 2020

A 12-year-old girl is on a diet 'stricter than vegan' after a routine eye examination led to her being diagnosed with a rare genetic condition.

Hallie Melling from Old Swan in Liverpool, was initially believed to have been suffering from dyspraxia because she was disorientated and always falling at school.

When school staff advised her 30-year-old mum Amy-Lea to get her eyes tested it lead to a referral to Alder Hey hospital where medics discovered she had Homocystinuria (HCU).

HCU is a metabolic disorder that prevents the normal breakdown of protein and can affect the brain, eyes, skeleton and the vascular system, Liverpool Echo reports.

Amy-Lea said: Since 2015, they have had a heel prick test that babies get to get tested for it, but they didnt have it when Hallie was born.

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Shes had six years of this building up in her system and has had to face the consequences.

When she was in reception school they said she had dyspraxia because she was always falling, not very good at PE and was getting disorientated.

Then that led on to them telling us to get her eyes checked because shes making up what the pictures are in the stories.

So we went to a regular Specsavers appointment and got sent away with a sealed envelope to go to Alder Hey.

The ophthalmologist described the effects the condition has had on Hallies sight as if her eye was a trampoline and the supporting strings had been cut.

Over a year, Hallies sight deteriorated to the point where her glasses prescription was minus 21, and eventually, the lenses in her eyes had to be removed.

After genetic tests, the results came back that Hallie had the rare condition HCU.

According to the NHS, it needs to be treated to avoid serious complications so Hallie will be on medication for the rest of her life and a restricted diet to limit the amount of protein she eats.

Amy-Lea said: The only things she can eat unchecked are fruit and some vegetables.

The rest is prescription food from the chemist and only 18 grams of natural protein a day.

She could go to McDonalds and get a veggie burger meal but that would add up of three-quarters of her daily allowance so we would have to keep her on prescription food for the rest of the day.

She used to be a brilliant eater, she would go to her nans and eat liver and everything.

Now her diet is more strict than a vegan diet.

Amy-Lea said that when Hallie was first diagnosed in 2015 it felt like a life sentence but the way her daughter takes the condition has given her hope.

She said: Within a year of going to Specsavers we were under ophthalmology, genetics and cardiology because it affects your heart.

It also affects her visual memory and she has low bone density.

Were trying to strengthen her bones now because if she doesnt use them they will become very brittle.

When she was doing PE first at school after being diagnosed we were concerned but we were encouraged not to wrap her in cotton wool.

She added: Its all down to Hallie. We were all doom and gloom at first but the way she deals with it makes us deal with it."

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Girl, 12, diagnosed with rare genetic condition following visit to Specsavers - Mirror Online

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How To Interpret Genetic Predisposition For Weight Gain From DNA Kits – Women’s Health

Monday, May 25th, 2020

Adriana Romero-Olivares signed up for 23andMe about seven years ago because she was curious about her ancestry. But the DNA testing company sends updated reports to its customers as it develops them, so in 2018, Adriana received an email notifying her that she had a new report available: a Genetic Weight report. She clicked, and it told her, Adriana, your genes predispose you to weigh about 9 percent more than average.

Learning that info was a strange pill for her to swallow. Ive struggled with my weight my entire life, says Adriana, 35. When I got the results, I felt validated, but then at the same time, I felt upset, because I struggle to accept the fact that I just can't be thin.

Over the past few years, DNA testing companies have started churning out reports like that one that specifically tell someone their likelihood of becoming overweight or obese. The thing is, getting bold text in your inbox that says you have a higher propensity to gain weight than the other people in your HIIT class can feel like a bit of a bomb, as Adriana points out.

So how reliable are these reportsand can they actually aid your efforts if you're trying to lose weight? Heres what experts have to say.

Just from pure observation, you can tell that theres a genetic component because you can look at families and see that weight gain runs in families, says Rachel Mills, a certified genetic counselor and assistant professor in the University of North Carolina-Greensboro Genetic Counseling Program. Beyond that, it gets more complicated.

Researchers dont have a firm answer in terms of to what degree being medically overweight or obese is influenced by genetics, compared to lifestyle and environmental factors. They've estimated that anywhere from 40 to 70 percent of person-to-person variability in body mass index (BMI) is due to genetic factors. (Obvious alert: Thats a wide range.)

And while researchers have already discovered hundreds of genetic variants associated with BMI, weve only got a partial picture of the genetic component so far, says Struan F.A. Grant, PhD, director of the Center for Spatial and Functional Genomics at Childrens Hospital of Philadelphia. Grant notes that BMI is a very polygenic trait, which means there are many, many genetic factors contributing to the trait, he explains. Each genetic variant could have a somewhat different effect on BMI, toothats something experts are still figuring out.

Just because a genetic report says that you are less likely to lose weight, that is not an absolute. Rachel Mills, genetic counselor

So what does it mean if a person has several genetic variants associated with obesity? Once we have a more complete picture of how genes drive obesity risk, we could eventually be able to get data (say, from our doctor) that helps guide how we approach weight management on a personal level, Grant says. But right now, all we definitely know is that certain genetic variants are more common in obese people compared to non-obese people.

23andMes Genetic Weight reports even explain right under your results that your predisposition doesnt mean you definitely will weigh more or less than average. 23andMe senior product scientist Alisa Lehman says that, in 23andMes model, the genetic component [accounts for] less than 10 percent of what the total difference in weight between any two people is. The company does extensive user testing before releasing reports that delve into new areas, she says. And, in this case, they wanted to make sure that customers have an understanding that genes are only one factor in weight management.

How businesses gather weight predisposition info varies company to company. For example, health-focused DNA testing and supplement company Vitagene and weight-loss platform Lose It! use results from other institutions research papers to internally calculate a persons risk of becoming overweight. (Lose It! also asks you to input your AncestryDNA or 23andMe raw DNA filesthe company doesnt do its own DNA testing.)

But 23andMe, arguably the most well-known service, uses its own data to come up with a persons weight predisposition. We have a research program that allows people to answer questions and then, from that, if they opt in, we can use their data to make new genetic discoveries, Lehman explains.

23andMe researchers released the Genetic Weight report in March 2017. They created it by looking at data from more than 600,000 research participants, including their DNA and self-reported height and weight. (Check out a sample report here.)

23andMe researchers found 381 variants associated with BMI, and used that info to create a modeling process that weighs certain variants more strongly than others and considers age, sex, and ancestry to determine the result they send to a consumer. "So when people provide us their saliva sample and we gather their DNA, we can look at those 381 places and say, 'Hey, okay, you have some variants that increase your predisposition and some variants that decrease your predisposition, and the magnitude of each of those variants differ a little bit,'" explains Lehman. "But we add up the effect of all of that to get a sense of whether your predisposition is to [weigh] a little bit more or a little bit less than average."

Depending on your ethnicity, there might also be another caveat. The largest population that 23andMe has data for is people of European descent, so researchers were only able to look at genetic and BMI data from people of European descent to identify the weight-related genetic variants and their effects. Then they looked at how well that model worked for people of other ethnicities, tweaking the model as necessary. Therefore, people who have Latino, African American, East Asian, and South Asian ancestry can get results that are somewhat customized to their ancestry, while people of mixed ancestry or other ancestries default to European. (This Eurocentric bias comes up in a *lot* of research that scans peoples genomes for genetic variants associated with a disease or trait, not just in relation to BMI.)

It doesnt appear that any companies that provide weight-related DNA results have conducted any formal research on how the info impacts peoples weight-loss efforts. Lehman says 23andMe has looked a little bit into whether the information in the Genetic Weight report has actually helped consumers with weight loss or management, but that they havent come up with anything "publication-worthy," adding that its challenging to untangle this report from other info the company provides on nutrition and exercise.

23andMe also hasnt taken a fresh look at their Genetic Weight report model since releasing it, but it plans to. We do periodically review all of the reports that we have, and Genetic Weight is coming up for that periodic review, so we will soon review it and see if any updates are warranted, Lehman says.

23andMes Health + Ancestry Service

This product includes a Genetic Weight report that tells you how much more or less than average your genes predispose you to weigh. It also explains that your predisposition doesnt mean you definitely will weigh more or less than average. Keep in mind that your lifestyle and environment have a big impact on your weight, the report reads.

HomeDNA Healthy Weight

This report tells you your general weight loss ability with diet and exercise. On a page explaining those results, the report reads: "Remember that these results only indicate your potential based on genetic factors, but many other factors also affect the outcome."

Lose It! Premium

Once you upload your AncestryDNA or 23andMe raw DNA file, this platform will tell you whether or not you have a genetic risk of being overweight or obese. In a disclaimer, the report says, These genetic variants are not perfectly predictive. You may have a high genetic score and a low BMI, or a low genetic score and a high BMI. These results may be more accurate for people of certain ethnic backgrounds.

Vitagenes Health + Ancestry DNA Tests and Reports

Customers can learn whether their genetics may make them more or less likely to become overweight with this kit. The info includes this caveat: However, your genetics alone dont define your body weight. Making healthy lifestyle choices may help keep you from becoming overweight. (Customers also have the option to upload their own raw DNA results for $29.)

Of course, some people might just like or even be motivated by having more information about themselves, and thats totally fair. But heres an interesting twist: A recent study out of Stanford University found that just knowing your genetic risk for obesity can impact the way you respond to food.

In one of two experiments, participants ate a meal and then, on a different day, ate another after hearing that they did or didn't have a high-risk genetic variant associated with obesity and lower satiety. Heres the catch: Researchers chose randomly whether participants would be told they had the genetic variant. (The researchers fully debriefed the participants about their actual genetic risk only about an hour later, while they were still under clinical supervision.)

We saw that the information we gave to people was like a self-fulfilling prophecy, says Brad Turnwald, PhD, a postdoctoral research fellow in the department of psychology at Stanford University and lead author of the study. When researchers told people they didnt have an increased risk, they reported feeling full faster and even produced more of a fullness hormone. Overall, what we saw was that what people thought had as much of an impact, and in some cases a greater impact, than what peoples actual gene sequence was, Turnwald says.

The takeaway, says Turnwald, is that we need to better understand the psychological impact of these kinds of DNA test products. We're definitely not trying to say that genes don't matter at all. There are some diseases for which they really are predictive, he says. But for the majority of things like weight loss and how hungry we are and how well we exercisethings for which people are looking for explanations that they just weren't made to run or they just don't feel full based on their genesthe story is not going to be that simple.

Mills doesnt believe that its possible for any sort of calculation to exist at the moment that can accurately analyze a persons propensity to gain weight. If someone told her they were interested in one of these reports, she would ask them to think seriously about how you would use that information, Mills says.

I know, for me personally, I would see a report [that says I cant lose weight as well through diet and exercise] and maybe throw up my hands and be like, Well, Im just going to go to McDonalds because it doesn't matterno diet and exercise is ever going to help me lose weight, so why do I need to even try she continues. And that can have a really detrimental effect.

If someone has already received genetic weight report results and asked her how to interpret themor wants to know how damning they actually are, so to speakMills would emphasize this: Genetics is just one piece of the big picture, she says. Just because this genetic report says that you are less likely to lose weight, that is not an absolute.

Adriana is Mexican, and shes also a scientist, so she knows that she should take her reported propensity to be overweight with a grain of salt. She says her Genetic Weight report is one piece of information, an indicator that I tend maybe to gain weight or that my metabolism is not as fast as the average persons, she says. But shes not going to make major lifestyle changes based on it.

Over time, though, the report has had a positive effect on Adrianas mindset: The way that I think about it now is, if Im predisposed to weigh a little bit more than the average person, then I might as well just exercise and have a balanced diet for the sake of health and not necessarily for the sake of losing weight, which, for a very long time, was the main focus for me.

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Close Genetic Relative of SARS-CoV-2 Found in Bats Offers More Evidence It Evolved Naturally – SciTechDaily

Monday, May 25th, 2020

There is ongoing debate among policymakers and the general public about where SARS-CoV-2, the virus that causes COVID-19, came from. While researchers consider bats the most likely natural hosts for SARS-CoV-2, the origins of the virus are still unclear.

Recently, in the journal Current Biology, researchers describe a recently identified bat coronavirus that is SARS-CoV-2s closest relative in some regions of the genome and which contains insertions of amino acids at the junction of the S1 and S2 subunits of the viruss spike protein in a manner similar to SAR-CoV-2. While its not a direct evolutionary precursor of SARS-CoV-2, this new virus, RmYN02, suggests that these types of seemingly unusual insertion events can occur naturally in coronavirus evolution, the researchers say.

Since the discovery of SARS-CoV-2 there have been a number of unfounded suggestions that the virus has a laboratory origin, says senior author Weifeng Shi, director and professor at the Institute of Pathogen Biology at Shandong First Medical University in China. In particular, it has been proposed the S1/S2 insertion is highly unusual and perhaps indicative of laboratory manipulation. Our paper shows very clearly that these events occur naturally in wildlife. This provides strong evidence against SARS-CoV-2 being a laboratory escape.

The researchers identified RmYN02 from an analysis of 227 bat samples collected in Yunnan province, China, between May and October of 2019. Since the discovery that bats were the reservoir of SARS coronavirus in 2005, there has been great interest in bats as reservoir species for infectious diseases, particularly as they carry a very high diversity of RNA viruses, including coronaviruses, Shi says. RNA from the samples was sent for metagenomic next-generation sequencing in early January 2020, soon after the discovery of SARS-CoV-2.

Across the whole genome, the closest relative to SARS-CoV-2 is another virus, called RaTG13, which was previously identified from bats in Yunnan province. But RmYN02, the virus newly discovered here, is even more closely related to SARS-CoV-2 in some parts of the genome, including in the longest encoding section of the genome called 1ab, where they share 97.2% of their RNA. The researchers note that RmYN02 does not closely resemble SAR-CoV-2 in the region of the genome that encodes the key receptor binding domain that binds to the human ACE2 receptor that SARS-CoV-2 uses to infect host cells. This means its not likely to infect human cells.

The key similarity between SARS-CoV-2 and RmYN02, is the finding that RmYN02 also contains amino acid insertions at the point where the two subunits of its spike protein meet. SARS-CoV-2 is characterized by a four-amino-acid insertion at the junction of S1 and S2; this insertion is unique to the virus and has been present in all SARS-CoV-2 sequenced so far. The insertions in RmYN02 are not the same as those in SARS-CoV-2, which indicates that they occurred through independent insertion events. But a similar insertion event happening in a virus identified in bats strongly suggests that these kinds of insertions are of natural origin. Our findings suggest that these insertion events that initially appeared to be very unusual can, in fact, occur naturally in animal betacoronaviruses, Shi says.

Our work sheds more light on the evolutionary ancestry of SARS-CoV-2, he adds. Neither RaTG13 nor RmYN02 is the direct ancestor of SARS-CoV-2, because there is still an evolutionary gap between these viruses. But our study strongly suggests that sampling of more wildlife species will reveal viruses that are even more closely related to SARS-CoV-2 and perhaps even its direct ancestors, which will tell us a great deal about how this virus emerged in humans.

###

Reference: A Novel Bat Coronavirus Closely Related to SARS-CoV-2 Contains Natural Insertions at the S1/S2Cleavage Site of the Spike Protein by Hong Zhou, Xing Chen, Tao Hu, Juan Li, Hao Song, Yanran Liu, Peihan Wang, Di Liu, Jing Yang, Edward C. Holmes, Alice C. Hughes, Yuhai Bi and Weifeng Shi, 10 May 2020, Current Biology.DOI: 10.1016/j.cub.2020.05.023

This work was supported by the Academic Promotion Programme of Shandong First Medical University, the Strategic Priority Research Programme of the Chinese Academy of Sciences, the Chinese National Natural Science Foundation, the National Major Project for Control and Prevention of Infectious Disease in China, the High-End Foreign Experts Program of Yunnan Province, the Taishan Scholars Programme of Shandong Province, the NSFC Outstanding Young Scholars, Youth Innovation Promotion Association of CAS, and an ARC Australian Laureate Fellowship.

Current Biology, Zhou et al.: A novel bat coronavirus closely related to SARS-CoV-2 contains natural insertions at the S1/S2 cleavage site of the spike protein

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Global Impact of Covid-19 on Animal Genetic Products Market Insights 2020 Industry Overview, Competitive Players & Forecast 2027 | Genus Plc,…

Monday, May 25th, 2020

The research report on Animal Genetic Products market Added by Reports And Data, proposes a comprehensive study on the recent industry trends. In addition, the report presents a detailed abstract of the growth statistics, revenue estimation, and market valuation, and also highlights the state of the competitive spectrum and expansion strategies adopted by major industry players. players like (Genus Plc, Hendrix Genetics BV, Alta Genetics, CRV Holdings B.V., Neogen Corporation, VatGen, Animal Genetics Inc., Zoetis, Urus, and Envigo among)

The research report on Animal Genetic Products market exhaustively analyzes this business space with focus on overall renumeration over the assessment period, alongside the detailed scrutiny of various industry segments. The report entails information pertaining to the current position and industry size based on volume. The overview of various drivers, restraints, and opportunities defining the business scenario of Animal Genetic Products market is presented in the study. It also focuses on insights about the regional outlook of the market, coupled with an elaborate study of companies with prominent stake in the

Download Free sample report at: https://www.reportsanddata.com/sample-enquiry-form/1344

The study reveals that the global Animal Genetic Products market is projected to reach a market value of USD 7.13 Billion by the end of 2027 and grow at a CAGR of 6.3% during the assessment period. Further, a qualitative and quantitative analysis of the Animal Genetic Products market based on data collected from various credible sources in the market value chain is included in the report along with relevant tables, graphs, and figures.

What questions does the Animal Genetic Products market report answer pertaining to the regional reach of the industry?

Access Full Research Report at: https://www.reportsanddata.com/report-detail/animal-genetic-products-market

Segments covered in the report:

Live Animals Outlook (Revenue, USD Billion; 2018-2026)

Genetic Material Outlook (Revenue, USD Billion; 2018-2026)

Testing Services Outlook (Revenue, USD Billion; 2018-2026)

The Animal Genetic Products market report highlights the regions, particularly inNorth America, Europe, Asia Pacific, Latin America, and Middle East & Africa.

A short overview of the Animal Genetic Products market scope:

Reasons to Read this Report

This report provides pin-point analysis for changing competitive dynamics

It provides a forward looking perspective on different factors driving or restraining market growth

It provides a six-year forecast assessed on the basis of how the market is predicted to grow

It helps in understanding the key product segments and their future

It provides pin point analysis of changing competition dynamics and keeps you ahead of competitors

It helps in making informed business decisions by having complete insights of market and by making in-depth analysis of market segments

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Some of the Major Highlights of TOC covers:

Chapter 1. Market Synopsis

1.1. Market Definition

1.2. Research Scope & Premise

1.3. Methodology

1.4. Market Estimation Technique

Chapter 2. Executive Summary

2.1. Summary Snapshot, 2017 2027

Chapter 3. Indicative Metrics

3.1. Macro Indicators

Chapter 4. Animal Genetic Products Market Segmentation & Impact Analysis

4.1. Animal Genetic Products Segmentation Analysis

4.2. Industrial Outlook

4.3. Price Trend Analysis

4.4. Regulatory Framework

4.5. Porters Five Forces Analysis

4.5.1. Power Of Suppliers

4.5.2. Power Of Buyers

4.5.3. Threat Of Substitutes

4.5.4. Threat Of New Entrants

4.5.5. Competitive Rivalry

Thank you for reading this article. You can also get chapter-wise sections or region-wise report coverage for North America, Europe, Asia Pacific, Latin America, and Middle East & Africa.

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Reports and Data is a market research and consulting company that provides syndicated research reports, customized research reports, and consulting services. Our solutions purely focus on your purpose to locate, target and analyze consumer behavior shifts across demographics and industries to help clients make smarter business decisions. We offer market intelligence studies ensuring relevant and fact-based research across multiple industries including Healthcare, Technology, Chemicals, Power, and Energy. We consistently update our research offerings to ensure that our clients are aware of the latest trends existent in the market. Reports and Data has a strong base of experienced analysts from varied areas of expertise.

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Enhancing food diversity in the midst of a climate crisis: How plant genetic material ensures future food security – Kenya – ReliefWeb

Monday, May 25th, 2020

Throughout history 6 000 -- 7 000 plant species have been cultivated for food. Yet today 40 percent of our daily calories come from just three crops: rice, wheat and maize. Humans depend on little more than 30 plant species, many of which are struggling in the face of today's environmental changes. With biodiversity and entire ecosystems in serious decline, the International Treaty on Plant Genetic Resources for Food and Agriculture plays an increasingly important role in promoting farmers and their essential contribution to diversifying the crops that feed the world. The Treaty was negotiated by FAO and the Commission on Genetic Resources for Food and Agriculture (CGRFA) and adopted in 2001 to create a global system that provides farmers, plant breeders and scientists with access to plant genetic materials.

The genetic material in each variety of species is unique and precious. Derived from human and natural selection for many decades, these genetics are fundamental to our future of food. Genetic material ensures agricultural biodiversity and gives different species the ability to cope with changes, whether it be climate change, new pests and diseases, drought and even flooding. The Treaty's Benefit-sharing Fund invests in projects that conserve and develop crop genetic resources to improve food security in cooperation with farmers.

Here are three examples of how this Treaty has helped farming communities in developing countries cope with climate change and other environmental threats.

1. Exchanging and developing biodiverse potato varieties in Peru, Nepal and Bhutan

There are over 4 000 native varieties of potato growing in the Andean highlands. These varieties are well-adapted to harsh conditions and a changing climate. In contrast, Nepal and Bhutan have only two locally adapted potato varieties but face similar conditions and environmental threats as the Andes. With this in mind, the project sought to reduce the vulnerability of these mountain communities by introducing potatoes that are more resilient to extreme temperatures and offer better nutritional quality. Working closely with the International Potato Centre in Peru, farmers in Nepal and Bhutan became directly involved in selecting new, high-yielding, resilient and biodiverse varieties of potato. The genetic material from these potatoes has since been conserved, multiplied and used by national agricultural research systems in all three countries.

** 2. Conserving plant genetic resources to improve food and nutrition in Zimbabwe, Malawi and Zambia

Being heavily reliant on the success of the maize crop, communities in Zimbabwe, Malawi and Zambia have in recent years faced a severe food shortage because maize crops have been unable to withstand the effects of climate change, such as higher temperatures and torrential rains. "Because of the changing climate, our farm was producing less food, and most crops have not been doing so well apart from millet and sorghum," explained Lovemore Tachokere, a smallholder farmer from Malawi. Through the Benefit-sharing fund and the introduction of 159 Farmer Field Schools across the three countries, farmers were given support and a voice. They started introducinglost varieties of different crops, creating diversity in their fields that also ensured more varied and nutritious diets. As part of the project a total of 300 lost or forgotten small grain crop varieties were retrieved from national, regional and international gene banks as part of the Treaty's Multilateral System. These seeds are now available to farmers and scientists for further study and the development of new climate-smart varieties.

3. Ensuring a resilient cassava crop in Tanzania and Kenya

Cassava is the third largest source of carbohydrates in the world, playing a particularly important role in agriculture in sub-Saharan Africa because it does well in poor soils and with low rainfall. Additionally, because it is a perennial, cassava acts as a famine reserve. In recent years, however, extreme temperatures, drought, flooding and a new virus, provoking 'brown streak disease', have affected cassava cultivation in the region. In Tanzaniaand Kenya, a project implemented through the Benefit-sharing Fund has led to new, more resistant and tolerant cassava breeding lines, including 30 that are heat and disease tolerant. While the farmers are now experimenting with planting new cassava varieties and using improved agricultural practices, breeders and scientists have access to improved plant material from which to select essential genetic material for future use. Community seed banks have been established through the Benefit-sharing Fund in conjunction with Farmer Field Schools and are an important initiative to collect and conserve local crop varieties. They function as a platform for farmers to control and make informed decisions on the conservation of agrobiodiversity and the cultivation of a variety of crops with nutritional value.

In the 15 years since it came into force, the International Treaty hosted by FAO has created the largest global gene pool for sharing plant material for food and agriculture, the Multilateral System of Access and Benefit-sharing (MLS). The Benefit-sharing Fund has supported over one million people through 80 agricultural development projects in 67 developing countries. These projects are clear examples of how effective the sharing of skills and knowledge across continents can be and they are crucial in the race to meet the Sustainable Development Goals (SDGs), in particular SDG 15 (Life on Land) and SDG2 (Zero Hunger). Projects under the Benefit-sharing Fund are an indication that FAO's Strategy on mainstreaming biodiversity across agricultural sectors is already taking shape and showing positive results, demonstrating that the greater the diversification of crops, the more food secure a community can become and the more resilient they find themselves in the face of current threats like climate change, pests and disease.

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Colonizing Mars may require humanity to tweak its DNA – Livescience.com

Monday, May 25th, 2020

If humanity is ever going to settle down on Mars, we may need to become a little less human.

Crewed missions to Mars, which NASA wants to start flying in the 2030s, will be tough on astronauts, exposing them to high radiation loads, bone-wasting microgravity and other hazards for several years at a time. But these pioneers should still be able to make it back to Earth in relatively good nick, agency officials have said.

It might be a different story for those who choose not to come home, however. If we want to stay safe and healthy while living permanently on Mars, or any other world beyond our home planet, we may need to make some tweaks to our species' basic blueprint, experts say.

Related: Space radiation threat to astronauts explained (infographic)

Genetic engineering and other advanced technologies "may need to come into play if people want to live and work and thrive, and establish their family, and stay on Mars," Kennda Lynch, an astrobiologist and geomicrobiologist at the Lunar and Planetary Institute in Houston, said on May 12 during a webinar hosted by the New York Academy of Sciences called "Alienating Mars: Challenges of Space Colonization."

"That's when these kinds of technologies might be critical or necessary," she said.

Genetic enhancement may not be restricted to the pages of sci-fi novels for much longer. For example, scientists have already inserted genes from tardigrades tiny, adorable and famously tough animals that can survive the vacuum of space into human cells in the laboratory. The engineered cells exhibited a greater resistance to radiation than their normal counterparts, said fellow webinar participant Christopher Mason, a geneticist at Weill Cornell Medicine, the medical school of Cornell University in New York City.

NASA and other space agencies already take measures to protect their astronauts physically, via spacecraft shielding, and pharmacologically via a variety of medicines. So, it's not a huge conceptual leap to consider protecting them genetically as well, provided that these measures are proven to be safe, Mason said.

"And are we maybe ethically bound to do so?" he said during the webinar. "I think if it's a long enough mission, you might have to do something, assuming it's safe, which we can't say yet."

Tardigrades and "extremophile" microbes, such as the radiation-resistant bacterium Deinococcus radiodurans, "are a great, basically natural reservoir of amazing traits and talents in biology," added Mason, who has been studying the effects of long-term spaceflight on NASA astronaut Scott Kelly. (Kelly spent nearly a year aboard the International Space Station in 2015 and 2016.) "Maybe we use some of them."

Harnessing these traits might also someday allow astronauts to journey farther than Mars, out to some even more exotic and dangerous cosmic locales. For instance, a crewed journey to the Jupiter moon Europa, which harbors a huge ocean beneath its icy shell, is out of the question at the moment. In addition to being very cold, Europa lies in the heart of Jupiter's powerful radiation belts.

"If we ever get there, those are the cases where the human body would be almost completely fried by the amount of radiation," Mason said. "There, it would be certain death unless you did something, including every kind of shielding you could possibly provide."

Genetic engineering at least lets us consider the possibility of sending astronauts to Europa, which is widely regarded as one of the solar system's best bets to harbor alien life. (The Jovian satellite is a high priority for NASA's robotic program of planetary exploration. In the mid-2020s, the agency will launch a mission called Europa Clipper, which will assess the moon's habitability during dozens of flybys. And Congress has ordered NASA to develop a robotic Europa lander as well, though this remains a concept mission at the moment.)

Related: The 6 most likely places to find alien life

Genetic engineering almost certainly won't be restricted to pioneering astronauts and colonists. Recent advances in synthetic biology herald a future in which "designer microbes" help colonists establish a foothold on the Red Planet, Lynch said.

"These are some of the things that we can actually do to help us make things we need, help us make materials to build our habitats," she said. "And these are a lot of things that scientists are researching right now to create these kinds of things for our trip to Mars."

Some researchers and exploration advocates have even suggested using designer microbes to terraform Mars, turning it into a world much more comfortable for humans. This possibility obviously raises big ethical questions, especially considering that Mars may have hosted life in the ancient past and might still host it today, in subsurface lakes or aquifers. (Permanently changing our own genomes for radiation protection or any other reason may also strike some folks as ethically dubious, of course.)

Most astrobiologists argue against terraforming Mars, stressing that we don't want to snuff out or fundamentally alter a native ecosystem that may have arisen on the Red Planet. That would be both unethical and unscientific, Lynch said.

After all, she said, one of the main reasons we're exploring Mars is to determine if Earth is the only world to host life.

"And how can we do that if we go and change the planet before we go and find out if life actually was living there?" Lynch said.

Mike Wall is the author of "Out There" (Grand Central Publishing, 2018; illustrated by Karl Tate), a book about the search for alien life. Follow him on Twitter @michaeldwall. Follow us on Twitter @Spacedotcom or Facebook.

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COVID-19 study looks at genetics of healthy people who develop severe illness – Washington University School of Medicine in St. Louis

Wednesday, May 20th, 2020

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Researchers seek answers to viruss mysteries, clues to possible treatments

Washington University School of Medicine in St. Louis is one of more than 30 genome sequencing hubs worldwide participating in a study to sequence the DNA of young, healthy adults and children who develop severe COVID-19 despite having no underlying medical problems. The researchers also will study people who never become infected despite repeated exposures to coronavirus. Knowledge gained from understanding COVID-19s extremes could lead to new therapeutic strategies for the illness.

To help unravel the mysteries of COVID-19, scientists are sequencing the DNA of young, healthy adults and children who develop severe illness despite having no underlying medical problems. The researchers are looking for genetic defects that could put certain individuals at high risk of becoming severely ill from the novel coronavirus.

The McDonnell Genome Institute at Washington University School of Medicine in St. Louis is one of more than 30 genome sequencing hubs worldwide participating in the study. Rheumatologist Megan A. Cooper, MD, PhD, an associate professor of pediatrics, is leading the research at Washington University. Called the COVID Human Genetic Effort, the international project is co-led by the National Institute of Allergy and Infectious Diseases of the National Institutes of Health (NIH), and Rockefeller University.

The researchers also plan to study people who never become infected with SARS-CoV-2, the virus that causes COVID-19, despite repeated exposures. Such individuals may have genetic variations that protect against infection. For example, certain rare genetic variants are known to thwart some types of viral infections, including HIV and norovirus. Knowledge gained from understanding COVID-19s extremes unusual susceptibility and resistance could lead to new therapeutic strategies for the illness.

The first focus of our study will be patients with severe responses to SARS-CoV-2 infection severe enough to require intensive care who appear otherwise healthy and are younger than 50, said Cooper, who also leads the clinical immunology program and the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies at St. Louis Childrens Hospital.

These patients dont have uncontrolled diabetes, heart disease, chronic lung disease or any other condition that we know increases the risk of severe complications from COVID-19, she said. For example, we sometimes see stories about, say, a marathon runner or a generally fit, healthy person who nevertheless got very sick from this virus, or the few healthy children who are getting very sick with COVID-19. These are the kinds of patients were interested in for this study. A small proportion of hospitalized patients will fit this category, likely less than 10%.

Cooper studies primary immunodeficiencies in children. Primary immunodeficiencies are a group of more than 450 genetic disorders of the immune system. They often are caused by mutations in single genes that affect different aspects of immunity.

With this pandemic, we can use our skills in gene hunting to search for genes that might be associated with severe COVID-19 in children and younger adults, she said. We can foresee a future ability to do a genetic sequencing test for individual patients hospitalized with SARS-CoV-2 and get an idea of whether they are likely to need more intensive care. In the meantime, we will be able to learn a great deal about how the immune system responds to this virus and what it needs to be able to respond effectively and in an appropriate manner.

These patients genetics could reveal the important immune pathways that the body needs to fight the virus. That knowledge could lead to therapies that also could help other patients who dont have a genetic susceptibility to the virus but perhaps have high-risk conditions, such as diabetes or heart disease.

Our immune systems have never seen this virus before, Cooper said. Were seeing severe COVID-19 complications play out across the world right now. It is going to take a global effort to investigate the genetic factors and the immune system factors that really control this infection.

Research related to COVID-19, including collecting and distributing of patient samples, is managed through Washington Universitys Institute of Clinical and Translational Sciences (ICTS), led by William G. Powderly, MD, who is also the Larry J. Shapiro Director of the Institute for Public Health, the J. William Campbell Professor of Medicine and co-director of the Division of Infectious Diseases.

This research is supported by funding from the St. Louis Childrens Hospital Foundation and the Jeffrey Modell Foundation.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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23andMe Is Trying to Crack the Genetic Code Behind the Coronavirus – Motley Fool

Wednesday, May 20th, 2020

The coronavirus has swept across the globe in recent months, and companies in all sectors of the healthcare industry have stepped up to combat the pandemic. Many are now scrambling to develop a vaccine.

One of the greatest challenges facing healthcare workers on the front lines, as well as the companies working on vaccine candidates, is that COVID-19 varies so much among patients. According to a report published by the World Health Organization back in March, approximately 80 percent of those infected exhibit mild symptoms or none at all.A study published in the journal Nature Medicine found that 44% of individuals who caught COVID-19 through secondary transmission contracted the illness while the original infector was still asymptomatic.

The most recent data released from the Centers for Disease Control and Prevention shows that 60.5 per 100,000 patients require hospitalization, and death certificates show that the flu, COVID-19, or pneumonia were behind 12.8% of all U.S. deathsfrom May 4 through May 10.Over 300,000 people worldwide have died of COVID-19.

Image source: Getty Images.

DNA testing companies are rising to the occasion with the launch of numerous studies hoping to crack the genetic code behind COVID-19. Last month, one of the biggest names in the consumer genetics market, 23andMe, initiated a study into the link between genetics and COVID-19 outcomes.

Founded in 2006, 23andMe is a privately held company that offers a slew of popular direct-to-consumer genetic tests and has the power of nearly $800 million of venture capital backing behind it. While 23andMe hasn't yet made its way to the public market, prospective investors and consumers alike should still be watching this start-up and its current study closely.

Here's what you need to know.

23andMe first launched its study back in April, and hundreds of thousands of customers have participated so far through online surveys. In the initial part of its study, 23andMe surveyed customers who had tested positive for COVID-19, as well as customers who had not received a positive diagnosis.The study will also allow contributions from family members of customers who have been ill with the coronavirus. The company will use this information to assess genetic similarities and dissimilarities among critically ill patients.

Last week, 23andMe announced that it was expanding its genetic study to include up to 10,000 adults who are not 23andMe customers and who have been hospitalized for COVID-19. In 23andMe's blog post announcing the study's expansion, the company stated that its research model means it can

not only reach out to current customers, but also quickly recruit and genotype new research participants. We can then survey those participants, and conduct genetic studies at a massive scale. ... There are several questions about whether genetics may explain the differences in immune response among patients. Our study could aid in assessing differences in risk among individuals. It could also guide efforts now under way to treat the disease caused by the virus.

When 23andMe announced its expansion of the study in a blog post published May 13, it noted that more than 500,000 people have enrolled in the study thus far, and more than 7,000 of the participants have been diagnosed with COVID-19.

In the 14 years since its founding, 23andMe has received venture-capital backing from a particularly impressive and diverse group of leading technology and pharmaceutical companies. Think big names like Fidelity Management & Research Company, Sequoia Capital, Alphabet's (NASDAQ:GOOG) Google Ventures, Johnson & Johnson's(NYSE:JNJ)venture capital division, and GlaxoSmithKline (NYSE:GSK).

23andMe is in late-stage funding. Its most recent round, in January 2019, consisted of secondary market funding from angel investor and former U.S. government official Raj Luhar. Secondary market funding occurs when an individual investor buys equity in a privately held company from current investors.

There's long been talk of 23andMe entering an initial public offering. It's possible the company could be looking to secure more late-stage funding to build its momentum before going the IPO route. A 2019 report released by private investment management firm Wellington Management Company found that

companies are staying private for longer. For example, the average age to IPO for VC-backed companies increased from 4.6 years during the 1990-2001 period to 6.4 years during the 2002-2018 period. As a result, companies are often more mature when they do go public. Businesses with market capitalization below US$1 billion have decreased as a percentage of the public market, from 53% of the Russell 2000 Index in 2005 to 23% as of 31 December 2018. Amid these changes, we recognized that the late-stage growth companies were often in need of capital to accelerate growth prior to, or in lieu of, an IPO or sale.

Many thought 23andMe would IPO back in 2015 when it secured an additional $115 million in a funding round. The company has yet to announce any definite plans to go public.

It's no secret that the consumer genetics market has faced notable headwinds over the past few years, as demand for DNA testing has dropped significantly. The reason behind this decline is not certain. It could be that the early boom in consumer interest wore off, or that privacy concerns got the better of the wider market.

In January, 23andMe laid off 14% of its employees. The company was just one in a long line of venture capital-backed entities that have had to slash their workforces in recent months. For example, one of 23andMe's top competitors, Ancestry, laid off 6% of its employees in early February. Coincidentally, Ancestry has also launched a study into the genomic aspects of COVID-19, but at present is limiting participants to existing customers only.

Naturally, there have been concerns about the fiscal future of genetic services given recent reductions in consumer demand. But with this new foray into genetic research, companies like 23andMe could be well positioned to aid medical providers and businesses in establishing new protocols both during and after the coronavirus crisis. Even though the company's IPO remains uncertain, 23andMe has solid backing and could be making some big moves in the near future. Healthcare investors should find this startup definitely worth watching over the next few years.

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Research Roundup: HIV vaccination, diabetes two-in-one injection, hybrid fish genetics – The Stanford Daily

Wednesday, May 20th, 2020

Each week, The Dailys Science & Tech section produces a roundup of the most exciting and influential research happening on campus or otherwise related to Stanford. Heres our digest for the week of May 1016.

A new vaccine type to prevent HIV infections

A new vaccination can provide enhanced and sustained protection against the HIV virus in rhesus macaque monkeys, a study published on May 11 in Nature Medicine found. The research might also help immunologists create a vaccine against the coronavirus and other diseases.

Most vaccines aim at stimulating serum immunity by raising antibodies to the invading pathogen, Bali Pulendran, professor of pathology and microbiology and immunology, told Stanford Medicine News. This vaccine also boosted cellular immunity, the mustering of an army of immune cells that chase down cells infected by the pathogen. We created a synergy between these two kinds of immune activity.

The adaptive immune response consists of two parts: serum immunity, including B-cells which secrete antibodies, and cellular immunity, including T-cells that find infected bodily cells and destroy them. The findings suggest vaccinations that stimulate both arms of the adaptive immune response can protect rhesus macaques from initial viral HIV infection.

These results suggest that future vaccination efforts should focus on strategies that elicit both cellular and neutralizing-antibody response, which might provide superior protection against not only HIV but other pathogens such as tuberculosis, malaria, the hepatitis C virus, influenza and the pandemic coronavirus strain as well, Pulendran told Stanford Medicine News.

Combination shot of insulin and amylin for diabetics

A combined two-in-one injection consisting of insulin and amylin may help diabetics better control their blood sugar levels, a study published on May 11 in Nature Biomedical Engineering found.

Previously, insulin and amylin a hormone that works with insulin to lower blood sugar levels more effectively than insulin alone could only be injected in two separate shots. Patients who have taken both drugs separately lose weight and have better control over their blood sugar levels. When combined, the drugs were too unstable for a single syringe.

Taking that second injection with the insulin shot is a real barrier for most patients, materials science and engineering assistant professor Eric Appel told Stanford News. Our formulation would allow them to be given together in a single injection or in an insulin pump.

The researchers developed a protective coating called cucurbituril-PEG that surrounds the insulin and amylin, allowing both to coexist in a single shot. The findings suggest the coating increases stability, promoting the drug shelf life.

Were excited about the results to say the least, Appel told Stanford News.

Genetic evolution of hybrid populations

Scientists have identified the cause of melanoma in hybrid fish in Mexico, a study published on May 14 in Science reports.

The highland swordtails and sheepshead swordtails have interbred for many generations and are native to Mexico, creating a population of hybrids. Researchers have identified two genes responsible for melanoma, which often develops in the tails of the male fish.

This discovery marks only the second time a dysfunction in hybrids has been traced to a specific gene in vertebrates. Hybrid offspring of two different species typically have genetic shortcomings.

Were just realizing that hybridization affects species all across the tree of life, including our own species many of us carry genes from Neanderthals and Denisovans, biology assistant professor Molly Schumer told Stanford News. Understanding hybridization and the negative and positive effects that can come from genes that have moved between species is important in understanding our own genomes and those of other species with which we interact.

The findings suggest the genes cd97 and xmrk are responsible for causing melanoma in the fish hybrids.

When I started my PhD in 2011, it was really not accepted that hybridization was common in animals. The best-known examples were mules and fruit flies. Its been such a massive shift and a fun time to be working on this question, Schumer told Stanford News. What weve arrived at now is the best kind of project in science: one that raises way more questions than answers and spins you off in a bunch of different directions.

Contact Derek Chen at derekc8 at stanford.edu.

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Deep Lens First to Integrate Cancer Genetic Data into AI Platform to Rapidly Match Patients to Precision Therapies and Clinical Trials – Business Wire

Wednesday, May 20th, 2020

COLUMBUS, Ohio--(BUSINESS WIRE)--Deep Lens, a software company focused on a groundbreaking approach to faster recruitment of the best-suited cancer patients to clinical trials, has integrated proprietary molecular data parsing and management technology into the companys award-winning clinical trial screening and enrollment platform, VIPER. This breakthrough integration will enable cancer care teams, clinical trial sponsors, and trial coordinators to immediately and automatically match patients based on the genetic profile of their cancers to the best precision therapies and oncology clinical trials.

The company worked with the University of Miami Office of Technology Transfer to exclusively license the technology. A team from Sylvester Comprehensive Cancer Center, part of the University of Miami Miller School of Medicine, and UHealth Information Technology developed an engine to leverage new ways of consuming and normalizing molecular genetic test results from companies, such as Caris Life Sciences, Foundation Medicine, Guardant Health, NeoGenomics, Tempus, and more, to automate and expedite the patient screening process.

Our office facilitates transfer of university innovations for the benefit of the university community and the public, said Bin Yan, Ph.D., J.D., Director of the Office of Technology Transfer. So, it was a natural fit to work with Deep Lens and integrate our two differentiated technologies to solve a real problem in clinical trial recruitment: limited time and resources for physicians and care teams.

In the past, the genetic test results were sent to healthcare providers, where a trained specialist or physician would analyze the results for therapy decisions. But, clinical trial coordinators often do not have access to this data or the ability to extract information from it when matching patients to clinical trials, leading to inconsistencies in the screening process and missed opportunities to leverage the data. Now, with integration into the VIPER platform, molecular test results from any lab vendor, across all patients can be quickly searched and easily analyzed by cancer care teams and clinical trial coordinators immediately and automatically match patients to the best precision-based clinical trials available.

Deep Lens VIPER has already made a big improvement to the patient screening process for our precision trials, said Jim Langford, Vice President of Clinical Operations, Aivita Biomedical in Irvine, California. With the addition of automated molecular-based patient matching, we see VIPER giving us much greater granularity into how we work with our provider sites to drive greater patient engagement.

The collaboration between Deep Lens and the University of Miami not only provides Deep Lens with additional, differentiated technology in precision medicine but establishes the University of Miami as a collaboration partner for future genomics technology development and project work.

Integrating this molecular data parsing and management technology into VIPER and continuing to work with University of Miami on integrating future genomics advancements will ensure that we have the leading and most up-to-date information and technologies, stated TJ Bowen, Ph.D., co-founder and Chief Scientist at Deep Lens. Now, cancer care teams, clinical trial sponsors, and trial coordinators can leverage an AI-enabled workflow platform that aggregates all relevant data sources for even faster automation and improved patient matching to increase clinical trial enrollment.

Patient recruitment for clinical trials remains a time-intensive, costly barrier to the execution of drug development programs. More than 14,000 oncology clinical trials are actively recruiting patients; yet estimates put the rate of participation as low as three percent of potential trial candidates, which can lead to enrollment delays of months, if not years.

"With this new functionality, VIPER will facilitate even greater patient access to cutting-edge treatments. By identifying eligible patients for clinical trials based on their digital and molecular biomarkers, VIPER is exactly what is needed to improve trial enrollment numbers, said David Braxton, M.D., Head of Molecular Pathology at a California cancer center that uses the VIPER platform. Patients deserve access to the most promising treatments and getting access should not be a burden for care teams and patients."

About Deep Lens

Deep Lens is a software company focused on a groundbreaking approach to faster recruitment of the best-suited cancer patients to clinical trials. By identifying patients at the time of diagnosis and combining lab, EMR and genomic data, VIPER, Deep Lens integrated cloud platform, provides care teams with visibility and workflows to accelerate recruitment and compress study timelines to bring game-changing therapies to market sooner. Growing with sponsors, providers and strategic partners, Deep Lens challenges the status quo so that patients can get the therapies they want and deserve. For more information, visit deeplens.ai.

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New HHT Center Gives Hope to Father and Son with Rare Genetic Disease – Michigan Medicine

Wednesday, May 20th, 2020

Arthur Gutowski and his son, Arthur Jr., share not only a name, but a rare hereditary blood vessel disorder that can cause severe nosebleeds, costing them as much as a cup of blood at a time.

My mom and uncle had nosebleeds, my grandma had nosebleeds, I have nosebleeds, says Gutowski, 72, of Dearborn, Mich. All three of his sons, including the eldest, who goes by AJ, have or had experienced them as well. (Chris the middle son, passed away in 2012.)

The Gutowskis have hereditary hemorrhagic telangiectasia (HHT), a disorder characterized by nosebleeds and fragile blood vessels. Its also known as Osler-Weber-Rendu disease.

Not a lot of physicians know about HHT, says their mutual doctor, Jeffrey Terrell, M.D., a professor of otolaryngology (also known as an ENT, for ear, nose and throat) at Michigan Medicine, so an estimated 90% of people with it go undiagnosed.

Terrell hopes to change that as Michigan Medicine becomes the states first designated HHT Treatment Center. The honor comes from Cure HHT, a nonprofit dedicated to finding a cure for the disease, and the CDC.

It means an integrated team of HHT experts including genetic counselors, ENTs, hematologists and interventional radiologists work together to provide the highest level of care to help patients manage their HHT.

Patients used to drive to Cleveland or Minnesota to go to such a Center but they have one much closer now, Terrell says.

The designation came with the help of a research grant Michigan Medicine hematologist Suman Sood, M.D. received from the Department of Defense and the CDC that combines treating people with HHT and hemophilia, an inherited disorder where the blood cant clot because of missing proteins in the blood.

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HHT is a gene mutation that causes blood vessels to form abnormally. While the cure remains elusive, it affects about 1 in 5,000 to 1 in 10,000 people. For the Gutowski family, it had a 100% frequency rate.

The nosebleeds experienced by the Gutowski family and others with the disorder frequently causes their hemoglobin numbers to plummet from a healthy adult male range of 12-18 to 4-6, making them tired, dizzy, short of breath and anemic. Before they started seeing Terrell, simple triggers for bleeds were yawning, sneezing and bending over to tie their shoes.

I learned to sneeze with my mouth, AJ says. So does his father.

AJ was in sixth grade taking a quiz when he believes he got his first nose bleed, which is a typical age for the disease to emerge. I knew at the time something was off but I knew my dad and grandma had nose bleeds, too, says AJ, 51, also of Dearborn. It was his normal.

HHT patients tend to have two types of blood vessel abnormalities. The smaller ones emerge on the skin, appearing as red or purple dots the size of a pinhead or elaborate spider veins. Theyre called telangiectasia and are found on the hands, face, mouth lips or inside the nose. The larger blood vessel abnormalities, arteriovenous malformation (AVMs), hide elsewhere in the body, but favor the nose, lungs, gastrointestinal tract, brain and liver. They can be life threatening. The brain AVM, for instance, can cause a stroke. The Gutowskis have liver and gastrointestinal AVMs, along with telangiectasia.

HHT evolves through the years. At first, the elder Gutowskis only symptom was nosebleeds and another spot on his liver, but when he started getting tired all the time, Terrell and his Michigan Medicine colleagues, including Sood and gastroenterologist Neil Sheth, M.D., looked closer. Gutowski had new AVMS in his gastrointestinal tract and they were bleeding.

Sheth used laser treatments to stop the flow and Sood gave Gutowski iron transfusions so he could resume his active life. For his nose vessels, he is on Avastin, a chemotherapy drug thats a vascular growth inhibitor.

For a while there he quit doing everything and was mostly housebound because he was out of breath and extremely fatigued by his anemia, Terrell explains. This past summer he went Up North to fish and travel around. His treatment was life changing.

Gutowski agrees. The U of M doctors are great, he says.

AJ likes having access to the HHT team of doctors, too. He recently had a procedure to blast a kidney stone and they monitored him with extra vigilance because of his tendency to bleed.

Of all the Gutowskis, AJ has long been the most proactive about his care. He keeps up on advancements and raises funds through his volunteer involvement with Cure HHT. He also drives to Washington University in St. Louis where they have an HHT Center for Excellence. Because he has a long relationship with them, he believes hell continue to drive eight hours to get his suggested three year scans to make sure his AVMs have remained the same or that no new ones have emerged. In fact, theyre the ones who noticed his kidney stone during an abdominal scan.

But having an HHT Center closer to home is comforting, too.

Dr. Terrell approached me about the new treatments and we talk about the risks and benefits, AJ says. I think actually over time, I've gotten more effective treatments with much less side effects under Dr. Terrells care, something he expects to continue as Terrell and the Centers team explore newer, emerging treatments.

Having the same doctor as his father is an advantage, too, AJ says.

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Were able to talk to each other about our care and sometimes we go in together, AJ says.

It's probably been helpful for the doctors to some extent, too, because they see how the disease is working in both of us. And they're able to connect dots a little bit easier, which translates to better care for both of them.

If you suspect HHT or have been diagnosed with HHT and want to meet with a Michigan Medicine specialist, contact a patient care coordinator at (734) 936-6393.

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Analysis of 100 Studies Reveals 32 New Sites of Genetic Variation Linked to Breast Cancer – Clinical OMICs News

Wednesday, May 20th, 2020

An analysis of data from over 100 studies including 266,000 women has unearthed 32 previously undiscovered areas in the genome where DNA variation appears to influence a womens risk for developing breast cancer.

The multinational research used information collected by the UK-based Breast Cancer Association Consortium over the last 15 years. New methods were used in the analysis that identified variants that can have different effects for different types of cancer.

The findings from this analysis enhance our understanding of the biology that differentiates subtypes and may improve our ability to predict womens breast cancer risks, even at the level of specific breast cancer subtype, commented Nilanjan Chatterjee, PhD, a professor at Johns Hopkins Bloomberg School of Public Health and one of the lead researchers on the study, which was published in the journal Nature Genetics.

Breast cancer is one of the most common cancers and over 250,000 women are diagnosed every year in the US alone, with 40,000 succumbing to the disease annually. Having a better method of assessing risk is therefore crucial to help assess screening needs and also to better personalize treatment if women develop the disease.

These new variants, add to more than 170 previously discovered genetic variants that influence risk for breast cancer. Of the 32 identified by the researchers to be linked more generally to breast cancer risk, seven were associated with estrogen receptor statusoverexpression of estrogen receptors are seen in 70% of breast cancer cases; seven to the grade of the tumor; four to HER2 receptor statusthe HER2 gene is often mutated in breast cancers and around 30% of treatments target this protein; and two to progesterone receptor status.

Five of the newly discovered variants seemed to be linked to a greater risk for some types of breast cancer, but a lower risk of others.

These variants are special and if followed up properly may lead to important insights into the biology of these breast cancer subtypes, commented Chatterjee.

A key difference between this study and previous similar analyses was that earlier studies have focused on assessing overall risk for developing breast cancer, or looked at some subtypes with relatively simple genetics, such as the BRCA1/2 mutations that dramatically increase a womans risk for developing breast cancer. This study used a technique that allowed them to assess genetic associations with the new variants in the presence of a lot of different background characteristics such as known presence of other genetic variants and other environmental factors.

Although this analysis was very large, including 142,798 breast cancer cases and 123,283 controls, the large majority of women were of European ancestry. Chatterjee and his colleagues plan to replicate their research in even larger, more ethnically diverse populations in future to try and pinpoint additional mutations that might not be present in European populations.

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Ovarian cancer: Genetic testing is need of the hour – Express Healthcare

Wednesday, May 20th, 2020

Mithua Ghosh, Director Clinical Diagnostics, HOD- Molecular and Clinical Genomics (HCG), Strand life Sciences gives an insight on how genetic testing can help estimate the risk of developing ovarian cancer

Dipti (name changed), a 29-year-old woman presented herself with persistent pelvic pain. Further examinations revealed that she had a large mass in her right ovary. With appropriate investigations, it was diagnosed to be ovarian cancer. She was immediately admitted to the hospital for surgery and subsequent treatment to manage the condition. During her treatment, she was counselled by the genetic counsellor who found a history of ovarian cancer in her family. On the maternal side, her grandmother and great grandmother were diagnosed with ovarian cancer. Based on the family history and early onset of the disease, the counsellor recommended genetic testing for Hereditary Breast and Ovarian Cancer syndrome (HBOC). The report revealed a pathogenic heterozygous mutation in the BRCA1 gene (BReast CAncer one gene). After Diptis reports revealed the BRCA1 mutation, her family members were also advised to undergo genetic counselling and confirmatory tests as precautionary measures towards inherited disorders. Her mother and brother were screened, and the same mutation in the BRCA1 gene was detected in them too. As a preventive measure, Diptis mother opted for a risk-reducing mastectomy, while her other family members were suggested to be under stringent monitoring and surveillance and report any persistent symptoms.

Germline mutations, also known as hereditary mutations, in BRCA1 and BRCA2 genes are associated with Hereditary Breast and Ovarian Cancer Syndrome (HBOC) predisposition. Individuals with mutated BRCA1 and BRCA2 genes have an increased risk of developing breast cancer, ovarian cancer (including fallopian and primary peritoneal cancers) and to a lesser extent, other cancers as well. It should be noted that HBOC caused due to pathogenic mutation in the BRCA1 gene shows an autosomal mode of inheritance, i.e. one copy of the faulty gene in an individual is sufficient to increase the risk of developing cancer. These mutations may pass from parents to the next generation, and each first-degree relative (siblings and offspring) has a 50 per cent chance of having this gene alteration.

In India, most of the ovarian cancer cases are diagnosed after they have progressed to advanced stages. Initial symptoms are mistaken and overlooked as regular feminine health issues. Studies show that the survival rate of patients diagnosed with ovarian cancer is approximately 45 per cent. Such low success rates attributed to ovarian cancer is due to late diagnosis. Almost 56.per cent of the ovarian cancer cases are diagnosed when the disease has progressed to advanced stages, which makes it difficult to manage.

A number of tests have been evaluated as potential methods of screening for ovarian cancer. Screening is recommended to start at 30-35 years of age with transvaginal ultrasounds and the blood test for the serum marker CA-125 every 6-12 months. Screening for ovarian cancer in women with family history plays an important role in identifying high-versus average-risk women. An individuals lifetime risk of developing ovarian cancer is influenced by many factors, which include the age, family history, relationship to an already diagnosed family member, etc. In those cases, risk-reducing salpingo-oophorectomy (removal of ovaries and fallopian tubes) is recommended around 35-40 years of age or once childbearing is completed.

Genetic counselling provides a flawless knowledge about the disease condition, surveillance, genetic testing availability and implications along with proper management and risk mitigation strategies. Genetic testing helps to detect gene mutations that predispose an individual to develop ovarian cancer, and thus identify at-risk individuals who require effective monitoring, surveillance and risk management strategies. Creating ovarian cancer awareness among women and encouraging them to go for regular screening can lead to early diagnosis of the disease, which in turn can significantly improve the survival rates with a good quality of life.

Therefore, genetic counselling and genetic testing should be strongly considered in patients with ovarian cancers, particularly if it is an early-onset disease and in the case of family history. This approach unfolds the genetic background of the patient as well the family members to a greater extent and identifies the risk of predisposition to the disease. It also enables the expanded collaborative role in patient care to support the patients and their family members through effective monitoring and surveillance programme and adoption of simple lifestyle changes, and mitigate the risk significantly.

Cancer is no longer a deadly disease; rather, it is a chronic lifestyle disease, which can be treated and effectively managed through early detection.

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African-American, white women share genetic mutations linked to breast cancer – UPI News

Wednesday, May 20th, 2020

May 19 (UPI) -- African-American and white women share several genetic mutations that increase risk for breast cancer, according to a study published Tuesday by the Journal of the National Cancer Institute.

Researchers at Boston University and the Mayo Clinic found that mutations of the BRCA1, BRCA2 and PALB2 genes, which are known to raise breast cancer risk in white women, including those of Ashkenazi Jewish descent, are also found in African-American women with the disease.

The genetic mutations have been associated with a more than seven-fold higher risk of breast cancer, the researchers noted.

"We also found that mutations in PALB2, RAD51C and RAD51D confer increased risks of estrogen receptor negative breast cancer in the African-American population," study co-author Fergus Couch, the Zbigniew and Anna M. Scheller Professor of Medical Research at the Mayo Clinic, said in a statement.

About one out of every eight women in the United States will develop invasive breast cancer during their lifetimes, according to BreastCancer.org. African-American women tend to be diagnosed at a younger age and are more likely to die from the disease.

However, rates of breast cancer genetic testing are substantially lower in African-American women than in white women, the authors of the JNCI study said. Differences in health recommendations given to African-American women have been identified as one of the drivers of this disparity, they added.

For the study, Couch and his colleagues sequenced germline DNA from 5,054 African-American women with breast cancer and 4,993 age-matched African-American women without cancer, looking for mutations in 23 genes believed to predispose women to the disease. The researchers then estimated the risk of developing breast cancer associated with having a mutation in any of the genes.

They found that more than 7 percent of women with breast cancer, regardless of race, had a mutation in one of the genes, as compared with 2 percent of the controls. Among women with breast cancers that lacked estrogen receptors -- or had estrogen receptor negative breast cancer -- more than 10 percent had a mutation in one of these genes.

In comparison, 5 percent of women with estrogen receptor positive breast cancer had a mutation in the cancer-related genes.

In addition to common mutations of the BRCA1, BRCA2, PALB2, RAD51C and RAD51D, the authors identified four other genetic mutations associated with a more moderate increase in risk for breast cancer among the women in the study. Previous studies of women of African ancestry were too small to identify genetic mutations other than those affecting BRCA1 and BRCA2.

Based on these findings, testing for breast cancer predisposition genes can prevent breast cancer deaths -- both in women who have never had breast cancer and in women with breast cancer -- according to the researchers.

"The multi-gene panels that are currently available to test women diagnosed with breast cancer or women at high risk due to their family history will be useful for African American women," said co-author Julie Palmer, director of Boston University's Slone Epidemiology Center.

"Depending on results of the testing and an individual's own weighing of pros and cons, a woman with a mutation in any of these genes may choose more aggressive screening for cancer, and women with mutations in the high risk BRCA1 and BRCA2 genes may choose removal of her breasts and/or ovaries as a way to prevent initial breast cancer or recurrence," she added.

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Genetic origins of hybrid dysfunction | Stanford News – Stanford University News

Wednesday, May 20th, 2020

In a small pool nestled between two waterfalls in Hidalgo, Mexico, lives a population of hybrid fish the result of many generations of interbreeding between highland and sheepshead swordtails. The lab of Molly Schumer, assistant professor of biology at Stanford University in the School of Humanities and Sciences, has been collecting these fish for years to study the evolution of hybrids.

Two hybrid male swordtail fish representing the extreme versions of the trait these researchers studied. The male on the left has melanoma and the male on the right has only a small spot. (Image credit: Daniel Powell)

Were just realizing that hybridization affects species all across the tree of life, including our own species many of us carry genes from Neanderthals and Denisovans, said Schumer, referring to two ancient human species that interbred with our ancestors. Understanding hybridization and the negative and positive effects that can come from genes that have moved between species is important in understanding our own genomes and those of other species with which we interact.

In a new paper, published May 14 in Science, the researchers pinpoint two genes responsible for a melanoma that often develops near the tails of male highland-sheepshead hybrids. The finding marks only the second time that a hybrid dysfunction has been traced to specific genes in vertebrates. (The only other case where scientists have narrowed hybrid dysfunction in vertebrates down to the single-gene level is in a longstanding hybrid population of mice in Europe and their relatives.)

People have long known that the offspring of two different species tend to have genetic flaws. For example, mules which are donkeys-horse hybrids are infertile. Ironically, in order to find the genes responsible for such dysfunctions, researchers need hybrids that are fit enough to breed for several generations after the initial hybridization. Otherwise, the pieces of their genomes that come from the parental species are so large that it is nearly impossible to trace the influence of any one gene.

Three hybrid swordtail males displaying varying degrees of melanin invasion, from a small spot like spots typically found in sheepshead swordtails (middle) to very advanced melanoma (back). (Image credit: Daniel Powell)

This is what makes the highland-sheepshead hybrids an exceptional case study. They have been interbreeding for about 45 generations, resulting in genomes that contain smaller chunks of parental DNA, which are easier to inspect at a single-gene level.

Weve known about genetic incompatibility between the genes of two species since the 1940s. Despite that, we dont know many of the genes that cause these negative interactions, said Daniel Powell, a postdoctoral fellow in the Schumer lab and lead author of the paper. Our lab has clearly defined natural hybrids and weve developed the genomic resources for both parental species. These fish represent a unique system for addressing this question.

In order to home in on the genes responsible for melanoma in hybrids, the researchers first turned their attention to the pure sheepshead swordtails and the genetic origin of a black spot some of these fish develop which is non-cancerous but found in the same location as the hybrids melanoma. Analyzing the genomes of nearly 400 individual fish, they linked the black spot with the presence of a gene called xmrk. Following that lead, the researchers concluded that xmrk was also more highly expressed in hybrids with melanoma compared to those without it altogether, it could explain 75 percent of all variation in the spotting they studied in both the pure sheepshead and hybrid fishes.

The researchers also found that another gene called cd97 which some hybrids inherit from their highland swordtail ancestors was more highly expressed in the highland swordtails and in hybrids than in sheepshead swordtails. Further genetic evidence suggests that cd97 and xmrk interact in some way to produce melanoma in the hybrids.

Interestingly, even though neither gene is associated with melanoma in the parental swordtails species, theyre both linked to cancer in other animals. In a distantly related swordtail hybrid, for example, xmrk interacts with another gene not cd97 to cause melanoma, and a gene related to cd97 has been associated with cancer in humans.

Taken together, these findings yield a puzzling picture. Weve ended up with competing but not mutually exclusive ideas about hybrid incompatibility and disease, said Powell. Weve lent credibility to the idea that some genes might be vulnerable to breaking down in different species which is surprising, given the randomness of evolution. But we also have evidence for the idea that there is a diversity of genetic causes for similar dysfunctions.

Schumer says she took a bit of a gamble when she focused her studies on hybridization, but her bet is paying off.

When I started my PhD in 2011, it was really not accepted that hybridization was common in animals. The best-known examples were mules and fruit flies. Its been such a massive shift and a fun time to be working on this question, said Schumer, who is senior author of the paper and a member of Stanford Bio-X. What weve arrived at now is the best kind of project in science: one that raises way more questions than answers and spins you off in a bunch of different directions.

Through future work, the researchers want to figure out why hybrid swordtails with melanoma are less likely to survive in the wild and in captivity. They are also curious to know why so many of these fish have the melanoma its possible that, when it comes to mate selection, females prefer males with the large black spots generated by melanoma. Already, they have lined up several ideas to further understand whether genes go wrong in a repeatable way in hybrids, or if what theyve found in xmrk and cd97 is closer to coincidence.

Stanford co-authors of this paper include Schumer lab research staff, Shreya Banerjee and Danielle Blakkan. Additional authors are from Centro de Investigaciones Cientificas de las Huastecas Aguazarca, A.C.; Texas A&M University; Northeastern University; Princeton University; University of Wurzburg; Benemerita Universidad Autonoma de Puebla; Harvard Medical School; the Howard Hughes Medical Institute; the Broad Institute of Harvard and MIT; Columbia University; and Texas State University, San Marcos.

This work was funded by the National Science Foundation, the Hagler Institute for Advanced Study, the Howard Hughes Medical Institute, LOreal for Women in Science, and the National Institutes of Health.

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Q&A on the Book Hands-On Genetic Algorithms with Python – InfoQ.com

Wednesday, May 20th, 2020

Key Takeaways

Hands-On Genetic Algorithms with Python by Eyal Wirsansky is a new book which explores the world of genetic algorithms to solve search, optimization, and AI-related tasks, and improve machine learning models. InfoQ interviewed Eyal Wirsansky about how genetic algorithms work and what they can be used for.

In addition to our interview, InfoQ was able to obtain a sample chapter which can be downloaded here.

InfoQ: How do genetic algorithms work?

Eyal Wirsansky: Genetic algorithms are a family of search algorithms inspired by the principles of evolution in nature. They imitate the process of natural selection and reproduction, by starting with a set of random solutions, evaluating each one of them, then selecting the better ones to create the next generation of solutions. As generations go by, the solutions we have get better at solving the problem. This way, genetic algorithms can produce high-quality solutions for various problems involving search, optimization, and learning. At the same time, their analogy to natural evolution allows genetic algorithms to overcome some of the hurdles encountered by traditional search and optimization algorithms, especially for problems with a large number of parameters and complex mathematical representations.

InfoQ: What type of problems do genetic algorithms solve?

Wirsansky: Genetic algorithms can be used for solving almost any type of problem, but they particularly shine where traditional algorithms cannot be used, or fail to produce usable results within a practical amount of time. For example, problems with very complex or non-existing mathematical representation, problems where the number of variables involved is large, and problems with noisy or inconsistent input data. In addition, genetic algorithms are better equipped to handle deceptive problems, where traditional algorithms may get trapped in a suboptimal solution.

Genetic algorithms can even deal with cases where there is no way to evaluate an individual solution by itself, as long as there is a way to compare two solutions and determine which of them is better. An example can be a machine learning-based agent that drives a car in a simulated race. A genetic algorithm can optimize and tune the agent by having different versions of it compete against each other to determine which version is better.

InfoQ: What are the best use cases for genetic algorithms?

Wirsansky: The most common use case is where we need to assemble a solution using a combination of many different available parts; we want to select the best combination, but the number of possible combinations is too large to try them all. Genetic algorithms can usually find a good combination within a reasonable amount of time. Examples can be scheduling personnel, planning of delivery routes, designing bridge structures, and also constructing the best machine learning model from many available building blocks, or finding the best architecture for a deep learning model.

Another interesting use case is where the evaluation is based on peoples opinion or response. For example, you can use the genetic algorithm approach to determine the design parameters for a web sitesuch as color palette, font size, and location of components on the pagethat will achieve the best response from customers, such as conversion or retention. This idea can also be used for genetic art artificially created paintings or music that prove pleasant to the human eye (or ear).

Genetic algorithms can also be used for ongoing optimizationcases where the best solution may change over time. The algorithm can run continuously within the changing environment and respond dynamically to these changes by updating the best solution based on the current generation.

InfoQ: How can genetic algorithms select the best subset of features for supervised learning?

Wirsansky: In many cases, reducing the number of featuresused as inputs for a model in supervised learningcan increase the models accuracy, as some of the features may be irrelevant or redundant. This will also result in a simpler, better generalizing model. But we need to figure out which are the features that we want to keep. As this comes down to finding the best combination of features out of a potentially immense number of possible combinations, genetic algorithms provide a very practical approach. Each potential solution is represented by a list of booleans, one for each feature.

The value of the boolean (0 or 1) represents the absence or presence of the corresponding feature. These lists of boolean values are used as genetic material, that can be exchanged between solutions when we mate them, or even mutated by flipping values randomly. Using these mating and mutation operations, we create new generations out of preceding ones, while giving an advantage to solutions that yielded better performing models. After a while, we can have some good solutions, each representing a subset of the features. This is demonstrated in Chapter 7 of the book (our sample chapter) with the UCI Zoo dataset using python code, where the best performance was achieved by selecting six particular features out of the original sixteen.

InfoQ: What are the benefits that we can get from using genetic algorithms with machine learning for hyperparameter tuning?

Wirsansky: Every machine learning model utilizes a set of hyperparametersvalues that are set before the training takes place and affect the way the learning is done. The combined effect of hyperparameters on the performance of the model can be significant. Unfortunately, finding the best combination of the hyperparameter valuesalso known as hyperparameter tuningcan be as difficult as finding a needle in a haystack.

Two common approaches are grid search and random search, each with its own disadvantages. Genetic algorithms can be used in two ways to improve upon these methods. One way is by optimizing the grid search, so instead of trying out every combination on the grid, we can search only a subset of combinations but still get a good combination. The other way is to conduct a full search over the hyperparameter space, as genetic algorithms are capable of handling a large number of parameters as well as different parameter types continuous, discrete and categorical. These two approaches are demonstrated in Chapter 8 of the book with the UCI Wine dataset using python code.

InfoQ: How can genetic algorithms be used in Reinforcement Learning?

Wirsansky: Reinforcement Learning (RL) is a very exciting and promising branch of machine learning, with the potential to handle complex, everyday-life-like tasks. Unlike supervised learning, RL does not present an immediate 'right/wrong' feedback, but instead provides an environment where a longer-term, cumulative reward is sought after. This kind of setting can be viewed as an optimization problem, another area where genetic algorithms excel.

As a result, genetic algorithms can be utilized for reinforcement learning in several different ways. One example can be determining the weights and biases of a neural network that interacts with its environment by mapping input values to output values. Chapter 10 of the book includes two examples of applying genetic algorithms to RL tasks, using the OpenAI Gym environments mountain-car and cart-pole.

InfoQ: What is bio-inspired computing?

Wirsansky: Genetic algorithms are just one branch within a larger family of algorithms called Evolutionary Computation, all inspired by Darwinian evolution. One particularly interesting member of this family is Genetic Programming, that evolves computer programs aiming to solve a specific problem. More broadly, as evolutionary computation techniques are based on various biological systems or behaviors, they can be considered part of the algorithm family known as Bio-inspired Computing.

Among the many fascinating members of this family are Ant Colony Optimizationimitating the way certain species of ants locate food and mark the paths to it, giving advantage to closer and richer locations of food; Artificial Immune Systems, capable of identifying and learning new threats, as well as applying the acquired knowledge and respond faster the next time a similar threat is detected; and Particle Swarm Optimization, based on the behavior of flocks of birds or schools of fish, where individuals within the group work together towards a common goal without central supervision.

Another related, broad field of computation is Artificial Life, involving systems and processes imitating natural life in different ways, such as computer simulations and robotic systems. Chapter 12 of the book includes two relevant Python-written examples, one solving a problem using genetic programming, and the otherusing particle swarm optimization.

Eyal Wirsansky is a senior software engineer, a technology community leader, and an artificial intelligence researcher and consultant. Eyal started his software engineering career as a pioneer in the field of voice over IP, and he now has over 20 years' experience of creating a variety of high-performing enterprise solutions. While in graduate school, he focused his research on genetic algorithms and neural networks. One outcome of his research is a novel supervised machine learning algorithm that combines the two. Eyal leads the Jacksonville (FL) Java user group, hosts the Artificial Intelligence for Enterprise virtual user group, and writes the developer-oriented artificial intelligence blog, ai4java.

Continued here:
Q&A on the Book Hands-On Genetic Algorithms with Python - InfoQ.com

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