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Archive for the ‘Genetics’ Category

Camel Milk and Autism: Connecting the Genetic Dots | DNA Science Blog – PLoS Blogs

Friday, November 22nd, 2019

After reading Christina Adamss new book Camel Crazy: A Quest for Miracles in the Mysterious World of Camels(New World Library), I may have a new favorite animal (sorry, cats and hippos).

Most of us know camels as curiosities at zoos. As beasts of burden highly adapted to hot and dry climates, theyve served the trade routes that helped build civilizations, and may indeed flourish in our increasingly hot and dry world. We value their hide, meat, and especially their milk.

Camels are unusual, biologically speaking. And that may be why their milk can alleviate some aspects of autism.

Camel milk sounds weird to American ears, but camels are a domestic fact of life elsewhere. Although the US classifies them as exotic animals, they actually have early origins here; fossils have been found in Los Angeles. But the true reservoir of knowledge on camels is found in rural cultures and universities in the Middle East, Asia, and Africa, Christina told me.

Got Camel Milk?

In 2005, Christina met a camel at a childrens book fair in Orange County CA. Rather than hauling kids around, the animal was standing near a display of lotions and soaps made with camel milk. When the owner started to tell Christina how the milk is hypoallergenic and helps premature babies in the Middle East, she glanced over at 7-year-old Jonah. Hed already had four years of costly treatments for autism.

Might it help reboot my sons immune system and help his autism symptoms? she recalls thinking, aware of a link to immune dysfunction. Cow milk and cheese made him hand-flap and walk in circles, which he described as feeling like having dirt in my brain. Vegan substitutes like rice, nut, or soy increased his allergic response.

Camel Crazy details Christinas two-year journey to find the milk. Once she started giving it to Jonah, four ounces at a time, mixed in with food like cereal, his behavior changed quickly.

He became calm. Inquisitive. Caring. His language became more emotional and focused. He held his head straight instead of rolling it. Eating became neat, not a mess fest. He dressed himself and began making eye contact. He even got his shoes and backpack on and was calmer in the car going to school.

By the third dose, Jonah was sleeping through the night. He became more fluid, social, and attuned. Within days he could cross the street without me holding on to him. Within weeks his skin grew smoother. The milk also reversed his skin irritation, agitation, mental distraction, hyperactivity, and stomach pain, Christina recalled.

So she did research and spread the word, first in an article Got Camel Milk? that went viral, then in a peer-reviewed case report, Autism Spectrum Disorder Treated With Camel Milk, published in Global Advances in Health and Medicine. After describing Jonahs early difficulties, she wrote on October 10, 2007, two weeks before my sons tenth birthday, he drank his first half cup (4 oz) of thawed raw unheated camel milk. The case report documents Jonahs sustained symptom improvements associated with drinking half a cup a day from 2007 to 2013.

Christina then began traveling the world, giving presentations on camel milk and autism, and consulting with scientists and vets. Camel Crazy details her immersion into the world of camels and cameleers, from Tuareg, Amish and Somali people in America to herders in India, Dubai and Abu Dhabi. She serves on the editorial board of the new International Journal of Camel Science.

I was a beta reader for Camel Crazyand loved it. Being a nerd I searched for the science, and wasnt disappointed. The milk indeed has some startling differences from other milks, yet tastes, Christina says, like cows milk.

Camels drink a lot, pee a little, exhale minimal vapor, have insulating coats, and their red blood cells balloon and shrink as the water content in the bloodstream shifts. Natural selection has favored persistence of these traits that provide adaptation to heat, aridity, and exposure to intense ultraviolet radiation and choking dust. Body temperature ranges from 93.2-104F (3440C).

Being specifically a genetics nerd, I delved deeper into the DNA that encodes the unusual versions of proteins that might explain the magic of camel milk, as well as other details of the physiology. Much of the info below comes from the article Desert to Medicine: A Review of Camel Genomics and Therapeutic Products, from three researchers at United Arab Emirates University.

Fighting an Opioid Released from Casein Breakdown

The first technical paper Christina found was The etiology of autism and camel milk as therapy, from Ben Gurion University researchers Reuven Yagil and Yosef Shabo. Parent reports inspired their work.

They zeroed in on an opiate-like effect. Casein, the most abundant milk protein, breaks down into peptide pieces. And one of them, beta-casomorphin-7, is an opioid. It can slip through the leaky gut of a person with autism and enter the brain. Could an opiate bathing the brain affect social interactions and lack of interest in surroundings?

Other breakdown peptides of casein (-casein and no -lactoglobulin), which are more abundant in cows milk, may spike milk allergies.

Upping Anti-Oxidants

Camel milk delivers potent anti-oxidants that might temper autism symptoms, wrote King Saud University researchers Laila Al-Ayadhi and Nadra Elyass Elamin in a2013 report. People with autism are more sensitive to oxidative stress, which is damage from unstable forms of oxygen called oxygen free radicals.

The researchers measured levels of three anti-oxidants in the blood of 60 kids with autism: superoxide dismutase, myeloperoxidase, and an enzyme needed to make glutathione. Over a two-week period, 24 children drank raw camel milk, 25 drank boiled camel milk, and 11 drank cows milk. The trial was double-blinded and randomized, but it wasnt a crossover, in which each child would have had all three milk experiences. Nevertheless, raw camel milk was superior in anti-oxidant levels and a behavioral rating scale.

Special Tiny Antibodies

Camels share with only their camelid brethren (llamas, alpacas, vicunas, and guanacos) tiny antibodies in milk, called nanobodies. Most antibodies have one or more Y-shaped subunits; a nanobody is one arm of one Y, the variable region that distinguishes species. A student discoveredcamel nanobodies in a lab course at the University of Brussels in 1993, analyzing a dromedarys blood serum. Camels make large antibodies too.

Nanobodies can squeeze into places more bulbous antibodies cannot, vanquishing a wider swath of viruses and bacteria. They look strikingly like monoclonal antibodies, and so have become darlings of pharma, particularly in cancer drug discovery.

A camels streamlined nanobodies arose from a mutation that removed the hinges that connect the Y-shaped arms of more conventional antibodies. Sometimes a mutation is a good thing!

Further infection protection comes from the milk protein lactoferrin, which fights hepatitis C.

Tolerating High Blood Sugar

A camel-herding people in India, the Raika, drink camel milk and dont get diabetes. Thats because camels tolerate high blood glucose levels, and some of that ability seeps into their milk.

P. Agrawal, at the SP Medical College, Bikaner, India and colleagues have conducted clinical trialsthat show that camel milk decreases blood glucose and hemoglobin A1c (a three-month-measure of blood glucose), and, in people with type 1 diabetes, reduces the insulin requirement by up to 30 percent .

How can camels have high blood sugar yet low HbA1C? In most animals, the beta chains of hemoglobin bind glucose at several points, upping HbA1C. This doesnt happen in camels. If glucose binding to hemoglobin in us is like Velcro, then in camels, its like contact between a boot and slippery ice.

Conserving Water

Milk requires water, and camels are masters at conserving it. A self-contained cooling system, as Christina describes it, cycles body water from a camels nostrils to its mouth. The multi-layered eyelids and double row of eyelashes keep out blowing sand. Their unique oval blood cells compress as camels safely dehydrate, then swell up again as they refill with water, keeping their blood flowing in extreme conditions.

Camels dont dry out in the desert, as we would, thanks to variants of the genes that encode the cytochrome P450 (CYP) enzymes. They enable camels to resorb lots of water while tolerating high salt conditions, without their blood pressure spiking. Their kidneys are keenly attuned to taking back water.

Camel milk is also high in the calming neurotransmitter GABA, low in lactose, and has more vitamin C than cows milk.

Beyond Milk

The astonishing adaptations of the camel arent restricted to its milk. Here are a few more that have their roots in the animals genes.

Variations on the Camel Theme

About 94% of the worlds 35 million camels are the domesticated, one-humped dromedaries (Camelus dromedaries) of northern and eastern Africa, the Arabian Peninsula, and southwest Asia. A feral branch lives in Australia. Wild dromedaries are extinct and are in a separate genus, Camelops hesternus. They dwelled in western North America.

About 2 million two-humped domesticated Bactrian (Camelus bactrianus) camels live on the steppes of central Asia, and each weighs about 1,000 pounds. Fewer than 100 wild Bactrian camels remain; they split from a shared ancestor about 700,000 years ago. Today they live in Mongolia and in northwest Chinas Xinjiang Province, in an area that was a nuclear testing site for 45 years. In 2008 the wild Bactrians were designated a distinct species, Camelus ferus.

When bactrian and dromedary camels interbreed, most offspring have one hump, some with a dip in the middle.

Camel Genomics

Camel genomes are remarkably diverse with many mutations, perhaps because people havent controlled their breeding. Doing so is challenging.

The jelly-like consistency of camel semen complicates both freezing and using artificial insemination. Still, researchers from Oman and France recently published a report about possible genetic improvements: selecting for traits that ease of using milking machines, provide resistance to infections, improve racing ability, and enhance beauty. Camels are, after all, gorgeous creatures.

The first camel genome sequence, published in 2012, revealed 20,821 genes splayed out among 37 chromosome pairs. Some 2,730 genes have evolved faster in camels than in their cattle relatives, many involved in carbohydrate and lipid metabolism. Perhaps the unusual variants contribute to the camels ability to conserve water.

Researchers from Kuwait University report in PLOS Onethat they analyzed DNA from the blood, spit, and hair of nine camels, concluding that tail hair follicle DNA is the best tissue source to create a biobank.The International Camel Consortium for Genetic Improvement and Conservation promotes camel genetic conservation.

Bring on the Camel Fro-Yo!

The milk isnt cheap. Camel Milk Cooplists $36.99 for a weeks supply. And as Christinas book explains, theres little to no incentive to conduct a clinical trial or to attempt to replicate natures magical mix of milk ingredients. Camel Crazy includes a users guide and directory of global sources.

The milk is available in liquid, frozen, and powdered form. Camel-milk-containing products include skin cream, cheeses, ice cream pops, chocolate milk, and a delectable-looking sweet called barfi, which means snow in Persian (not vomit).

When will camel milk come to Starbucks?

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Camel Milk and Autism: Connecting the Genetic Dots | DNA Science Blog - PLoS Blogs

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Myriad Genetics Announces Regulatory Approval of the BRACAnalysis Diagnostic System in Japan for Breast Cancer Patients – BioSpace

Friday, November 22nd, 2019

SALT LAKE CITY, Nov. 21, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced that Japans Ministry of Health, Labour and Welfare (MHLW) has approved the BRACAnalysis Diagnostic System (i.e., BRACAnalysis) to help physicians determine which women with breast cancer have Hereditary Breast and Ovarian Cancer (HBOC) syndrome and qualify for additional medical management. BRACAnalysis is a genetic test that identifies germline mutations in the BRCA1/2 genes.

We are excited that the MHLW has approved the BRACAnalysis Diagnostic System for HBOC risk assessment in patients with breast cancer, said Seigo Nakamura, M.D., Ph.D., Professor and Chairman, Department of Surgery, Division of Breast Surgical Oncology and Director, Breast Center of Showa University Hospital in Tokyo and president of the Japanese Organization of Hereditary Breast and Ovarian Cancer (JOHBOC). Our goal is to use the BRACAnalysis test to identify patients with BRCA mutations and determine who will benefit from more advanced medical care.

Under the MHLW decision, physicians may use BRACAnalysis to test for BRCA mutations in women with breast cancer who meet the genetic testing guidelines defined by JOHBOC. Those patients who test positive for a deleterious BRCA mutation will be eligible to receive advanced medical management, such as prophylactic surgery or targeted therapies.

Myriads BRACAnalysis test is the gold standard for BRCA testing. The approval of BRACAnalysis for HBOC risk assessment in Japan is further validation of the quality and utility of our pioneering genetic test, said Gary A. King, executive vice president of International Operations, Myriad Genetics. We look forward to working with our commercial partners in Japan to ensure that BRACAnalysis is available to patients.

Myriad has an exclusive partnership with SRL Inc., a subsidiary of Miraca Group, to commercialize the BRACAnalysis Diagnostic System in Japan.

Todays announcement follows two prior regulatory approvals for the BRACAnalysis Diagnostic System in Japan. In February 2019, BRACAnalysis was approved as a companion diagnostic for Lynparza (olaparib) in women with ovarian cancer, and in March 2018, it was approved as a companion diagnostic for Lynparza in patients with metastatic inoperable or recurrent breast cancer.

About the BRACAnalysis Diagnostic SystemBRACAnalysis is a diagnostic system that classifies a patients clinically significant variants (DNA sequence variations) in the germline BRCA1 and BRCA2 genes. Variants are classified into one of the five categories; Deleterious, Suspected Deleterious, Variant of Uncertain Significance, Favor Polymorphism, or Polymorphism. Once the classification is completed, the results are sent to medical personnel in Japan for determining the eligibility of patients for treatment with Lynparza.

About SRLSince the establishment in 1970, SRL, Inc., a member of the Miraca Group, Japan-based leading healthcare group, has been providing comprehensive testing services as the largest commercial clinical laboratory in Japan. SRL carries out nearly 400,000,000 tests per year, covering a wide range of testing services including general/emergency testing, esoteric/research testing, companion diagnostics tests, genomic analysis, and etc. For more information, please visit https://www.srl-group.co.jp/english/.

About Myriad GeneticsMyriad Genetics Inc., is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, ForeSight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Lynparza is a registered trademark of AstraZeneca.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to Japans Ministry of Health, Labour and Welfare (MHLW) marketing approval of the companys BRACAnalysis Diagnostic System to identify patients with breast cancer who would be eligible for additional medical management; the Company working with commercial partners in Japan to ensure that BRACAnalysis is available to patients; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

Media Contact: Ron Rogers(801) 584-3065rrogers@myriad.com

Investor Contact:Scott Gleason(801) 584-1143sgleason@myriad.com

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Myriad Genetics Announces Regulatory Approval of the BRACAnalysis Diagnostic System in Japan for Breast Cancer Patients - BioSpace

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Ash dieback: Genetic resistance offers new hope over unstoppable disease expected to kill 70 per cent of species – The Independent

Friday, November 22nd, 2019

A devastating fungal disease, the cause of ash dieback, is on course to decimate Europes ash trees, with 70 million in the UK currently expected to perish over the coming years, costing the economy an estimated 15bn.

But in some pockets of woodland, resistance to the sickness has been detected, offering a glimmer of hope that ash trees will not be permanently erased from the landscape.

Scientists sequenced whole genomic DNA from 1,250 ash trees in 31 different areas in order to identify the inherited genes associated with ash dieback resistance.

Sharing the full story, not just the headlines

The study, published in the journal Nature Ecology & Evolution, shows resistance is controlled by several genes, offering hope survivors could be used to restore diseased woodlands, either by natural regeneration or selective breeding.

Professor Richard Nichols, author of the study from Queen Mary University of London, said: We found that the genetics behind ash dieback resistance resembled other characteristics like human height, where the trait is controlled by many different genes working together, rather than one specific gene.

Overall winner of the competition

Csaba Daroczi/NPOTY 2019

Winner in the Underwater category

Alexey Zozulya/NPOTY 2019

Finalist in the Mammals category

Jose Juan Hernandez/NPOTY 2019

Finalist in the Man and Nature category

Tom Svensson/NPOTY 2019

Finalist in the Mammals category

Marcio Cabral/NPOTY 2019

Winner of the Youth category

Giacomo Redaelli/NPOTY 2019

Finalist in the Man and Nature category

Britta Jaschinski/NPOTY 2019

Finalist in the Other Animals category

Wei Fu/NPOTY 2019

Finalist in the Landscapes category

Brandon Yoshizawa/NPOTY 2019

Finalist in the Man and Nature category

Pedro Narra/NPOTY 2019

Overall winner of the competition

Csaba Daroczi/NPOTY 2019

Winner in the Underwater category

Alexey Zozulya/NPOTY 2019

Finalist in the Mammals category

Jose Juan Hernandez/NPOTY 2019

Finalist in the Man and Nature category

Tom Svensson/NPOTY 2019

Finalist in the Mammals category

Marcio Cabral/NPOTY 2019

Winner of the Youth category

Giacomo Redaelli/NPOTY 2019

Finalist in the Man and Nature category

Britta Jaschinski/NPOTY 2019

Finalist in the Other Animals category

Wei Fu/NPOTY 2019

Finalist in the Landscapes category

Brandon Yoshizawa/NPOTY 2019

Finalist in the Man and Nature category

Pedro Narra/NPOTY 2019

Now we have established which genes are important for resistance we can predict which trees will survive ash dieback. This will help identify susceptible trees that need to be removed from woodlands, and provide the foundations for breeding more resistant trees in future.

Samples were collected from ash trees in a Forest Research mass screening trial, which comprises 150,000 trees across 14 sites in southeast England.

The researchers screened for resistance genes using a rapid approach where the DNA of diseased and unaffected trees was separated.

Many of the genes found to be associated with ash dieback resistance were similar to those previously shown to be involved in disease or pathogen responses in other species.

Ash dieback is a major threat to the UK landscape. According to the Woodland Trust, the effects will be staggering.

It will change the landscape forever and threaten many species which rely on ash, the trust has warned.

The fungus Hymenoscyphus fraxineusaffects ash trees of any age and in the UK between 70 and 95 per cent of ash trees are expected to succumb.

The 15bn economic impact is expected to be greater than that of the 2001 foot-and-mouth disease outbreak which led to more than 6 million cattle and sheep being exterminated, according to an assessment this year by a team from Oxford University.

The predicted costs include clearing up dead and dying trees, but also lost benefits provided by the trees, including water and air purification and carbon sequestration.

The loss of these services is expected to be the biggest cost to society, while millions of ash trees also line Britains roads and urban areas, and clearing up dangerous trees will cost billions of pounds.

The disease has spread throughout Europes ash populations, and was first recorded in the UK in 2012.

Professor Richard Buggs, senior research leader in plant health at the Royal Botanic Gardens, Kew and lead author of the paper, said: There is no cure for ash dieback and it threatens to kill over half of the 90 million ash trees in the UK. This will have huge impacts on the British landscape.

Our new findings of the genetic basis of natural resistance found in a small minority of British ash trees help us to predict how ash populations will evolve under ash dieback. While many ash trees will die, our findings are encouraging from a long-term perspective and reassure us that ash woodlands will one day flourish again.

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Ash dieback: Genetic resistance offers new hope over unstoppable disease expected to kill 70 per cent of species - The Independent

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An American company will test your embryos for genetic defects. But designer babies aren’t here just yet – The Conversation AU

Friday, November 22nd, 2019

Designer baby, anyone? A New Jersey startup company, Genomic Prediction, might be able to help you.

Genomic Prediction claims to be able to use DNA testing to predict disease risk in an embryo. The idea is to study hundreds or thousands of small variations in DNA, known as genetic markers, and use sophisticated computer algorithms to correlate these with diseases such as type 1 and type 2 diabetes, breast cancer and intellectual disability.

If the companys recent research is any guide, it may move on to predicting other traits such as height and even educational attainment.

But the connections between genetic variations and differences in real human beings are far from straightforward. And even if we can make these connections, should we?

In my own field, forensic genetics, we have a similar goal: to produce a molecular photofit or DNA mugshot of the perpetrator of a crime, using DNA left at a crime scene. At first, there was great optimism.

Only six genetic markers were required to predict blue or brown eye colour with reasonable accuracy. However, prediction of intermediate eye colours (green, hazel, light brown) was less accurate. Testing for hair colour soon followed (24 markers) and, most recently, skin colour (41 markers).

Eye, hair and skin colour are all largely controlled by a small number of genes related to the pigment melanin. There are two types of melanin, a dark and a light form, and between them they give rise to the spectrum of eye, hair and skin colours.

Read more: World's first genetically modified human embryo raises ethical concerns

High doses of the light pigment are found only in individuals with European ancestry, particularly northern European. Prediction systems have really only been developed and tested rigorously on Europeans and North Americans.

This is the case with many large genome-wide association studies (GWAS) and data sets, including some of those used by Genomic Prediction. Individuals without European ancestry are poorly represented, and the associations between genetic markers and traits dont always replicate in populations that dont have European ancestry.

Since these first few pigmentation prediction systems, progress has been slow in forensic genetics. This is because most traits even ones that are strongly influenced by genetics are very polygenic, which means they are influenced by many different genes.

For example, height and educational attainment are both highly heritable. But they are under the influence of hundreds, if not thousands, of genetic markers, each with a very small effect on the trait.

Further, the marker variants with the largest influence are generally the rarest ones. For example, the variants with the largest influence on height each account for only one or two centimetres and are present in no more than 0.2% of the population. More common variants each account for height differences of mere millimetres or even less.

Polygenic scores add up all the tiny effects of these multiple marker variants to give an overall prediction. But there are several caveats.

First, they dont take account of genetic synergies (epistasis). The effects of two (or more) different markers may not add up in any simple way.

Second, they completely ignore environmental effects: the nurture part of nature versus nurture. For example, although both are highly heritable, height is affected by nutrition, and educational attainment is influenced by educational expectations and parental education. So, really, what is being predicted is the genetic potential for a particular trait.

Assuming Genomic Prediction can predict these potentials accurately, will they all be found in one embryo?

Lets say you want a tall, brown-eyed, high educational achiever with a low risk of breast cancer. The odds of finding all of these potentials in one embryo is very low, like throwing dozens of dice and having them all come up with sixes.

Even if you are lucky with your roll of the genetic dice, are you sure your designer baby will thank you when they grow up? Your idea of the perfect trait might not be theirs. You are, in effect, choosing their DNA without their consent.

Read more: 3-parent IVF could prevent illness in many children (but it's really more like 2.002-parent IVF)

Are you ready to see a prediction of what your baby might look like as an adult, or a photo-board from which to choose your future offspring? Companies are already offering to produce molecular photofits of unknown donors of crime-scene DNA. Its not a giant leap to designer babies.

At US$1,000 per case and an additional US$400 per screened embryo for expanded pre-implantation genomic testing (EPGT is Genomic Predictions flagship product), designer babies will inevitably be more available to wealthier parents. There are valid concerns that this could lead to genetic advantage and disadvantage along socio-economic lines.

Genetic screening is already common practice, especially for chromosomal disorders. Like many others, my own daughter received a nuchal fold thickness assessment as a standard ultrasound screen for Down syndrome.

Screening for genetic risks is just one more step along this continuum. But how many steps should we take? Once we start selecting for desirable characteristics, its easy to see the moral slope becoming very slippery.

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An American company will test your embryos for genetic defects. But designer babies aren't here just yet - The Conversation AU

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iOmx Therapeutics’ iOTarg Genetic Screening Platform Featured in Podium Presentation at PEGS Europe 2019 – PRNewswire

Friday, November 22nd, 2019

MARTINSRIED, Germany and MUNICH, Nov. 21, 2019 /PRNewswire/ -- iOmx Therapeutics AG (iOmx), a biopharmaceutical company developing cancer therapeutics based on novel immune checkpoint targets, announced today that its Vice President, Antibody Development, Stefanie Urlinger, PhD, delivered a podium presentation highlighting the discovery of IGSF11, a novel immune checkpoint molecule on tumor cells, using its iOTarg discovery platform at the 11th PEGS Europe Protein & Antibody Engineering Summit (PEGS Europe 2019) in Lisbon, 12-18 November, 2019.

The podium presentation, titled, "A Comprehensive Screening Platform to Identify the Next Generation of Cancer Immunotherapy Targets," reports the identification of IGSF11, a postulated VISTA interaction partner, as an important immune checkpoint molecule on tumor cells using iOTarg, the company's proprietary, high-throughput target discovery platform. In an MC38 murine colon adenocarcinoma mouse model, CRISPR knockout of IGSF11 resulted in a >70% reduction in tumor growth, independently validating the target. Interestingly, patients refractory to anti-PD1 or anti-CTLA4 therapies overexpress IGSF11 and exhibit poor progression-free survival.

Based on these findings, iOmx is developing a novel anti-IGSF11 antibody as monotherapy in patients with solid tumor indications that are resistant to PD-1/PD-L1 therapies. The company presented data showcasing their IGSF11-specific antibodies which block the interaction to VISTA and exhibit strong immune lysis of tumor cells in vitro. Additionally, beyond IGSF11, iOTarg resulted in the identification of other novel immune checkpoint targets and unique immune evasion biologies against which iOmx is pursuing first-in-class drug development projects - all in the pre-clinical stage.

"Current limitation of the approved immune checkpoint inhibitors to induce response in majority of cancer patients requires us to identify and drug additional key vulnerabilities in refractory tumors," said Nisit Khandelwal, Ph.D., co-founder and Senior Vice President of iOmx Therapeutics. "PEGS Europe 2019 Summit is an ideal event to showcase the ability of iOmx' iOTarg genetic screening platform to systematically identify novel and druggable immune checkpoint targets, such as IGSF11, that are expressed by PD-L1 non-responsive tumors. Based on our findings, we have initiated pre-clinical development of a first-in-class IGSF11-targeting antibody that eliminates tumor induced immune suppression, especially in anti-PD-1 refractory tumors. Furthermore, we continue to investigate new immuno-oncology targets with our unique iOTarg discovery engine."

About iOmx TherapeuticsiOmx (www.iomx.com) focuses on the development of first-in-class cancer therapeutics addressing novel immune checkpoints hijacked by cancer cells. The company's proprietary platform, iOTarg, systematically screens tumor cells for expression of immune checkpoint modulators, that, when knocked-down, increase T cell immunity against cancer cells. iOmx is building a pipeline of promising cancer immunotherapeutics based on novel, proprietary targets with a known mode of action. Founded in 2016 based on the work of its scientific founders Philipp Beckhove and Nisit Khandelwal conducted at the German Cancer Research Center, the company has been funded by MPM Capital (both its BV2014 and UBS Oncology Impact Funds), Sofinnova Partners, Wellington Partners and Merck Ventures and is based in Martinsried / Munich, Germany.

Contact:Investor / Media Contacts: Miriam Miller / Jason Rando Tiberend Strategic Advisors, Inc. 212-375-2694 / 2665 mmiller@tiberend.com jrando@tiberend.com

SOURCE iOmx Therapeutics AG

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iOmx Therapeutics' iOTarg Genetic Screening Platform Featured in Podium Presentation at PEGS Europe 2019 - PRNewswire

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Scientists reveal why we feel so tired in the morning – Yahoo Sports

Sunday, November 17th, 2019

If youre the type of person who snoozes your alarm every morning or cant function before (or even after) yourmorning coffee, there might be a genetic reason for that.

New research by DNA testing company,23andMe, has discovered that genetic programming plays a part in our wake up time.

The research studied over 1,500 British people to determine that 7.55am was the UKs average genetic wake up time.

This means that the average Brit willwake upnaturally just before 8am each day.

READ MORE: Drinking tea or coffee has no impact on sleep, according to study

Many people set their alarms for much earlier than that, hence our feelings of tiredness and lack of productivity.

Interrupting your bodys circadian rhythm (which is the official term for our body clock) can leave us feeling out of sorts at the beginning of the day.

If you dont feel tired first thing, it doesnt mean youre immune to these feelings. Many people have tiredness slumps at different points in the day.

READ MORE: Parents can buy children anti-nightmare mist

TheNHShas found that one in five of us get unusually tired and have suggested some good ways to wake yourself up when the slump sets in.

Exerciseis cited as one of the key ways to bolster your energy reserve. Aside from the psychological benefits of exercise, it alsolowers your risk of early death by 30%.

Cutting down oncaffeineis another recommended way to beat the tiredness. As a nation of tea drinkers, we are all at risk of being over-stimulated by the affects of caffeine. Switching to decaffeinated tea and coffee could make all the difference.

Getting into a routine of having daytime naps may also interrupt your bodys circadian rhythm. If you go to sleep every time you feel a bout of tiredness, you may struggle to get to sleep at night, so says the NHS.

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Should this deer be culled? The answer may not be what you think. – Clarion Ledger

Sunday, November 17th, 2019

Mississippi has produced some giant bucks and even a world record. Here are the top six deer on record in Mississippi by category. Brian Broom

Studies show genetics can't be controlled in wild deer populations

It's a common debate on social media.

A hunter gets a photo on a game camera that shows a deer with a spike on one side and a normal antler on the other and asks if the deer should be removed.

Many will say the buck needs to be taken to prevent the continuation of its genesinto future generations, but biologists say that's probably not the correct answer.

Many hunters feel a buck with a spike on one side should be removed from the herd to improve genetics, but biologists say that's not the case.(Photo: Special to Clarion Ledger)

"That's almost always related to some kind of injury," said Kip Adams, Quality Deer Management Association director of conservation. "It's usually not genetic.

"Most of those are injury-related. Deer just aren't genetically built to have crazy antlers like that. Most of the time, if the animal is allowed to live, he'll drop those antlers and you won't see it in future years."

However, there are times when a malformed antler caused by injury will return after antlers are shed.

"It could," Adams said. "It could be an injury to the base. If the injury is right at the base of the antler, it could recur in future years."

Adams said a serious injury to the body can also cause a recurring abnormal antler.

"Again, none of that is genetic-related," Adams said. "So, it's not passed on.

"If you remove them you're not doing anything to change the genetics of the deer herd. The only gain you're making is providing more food for the rest of the herd by removing them."

One of the causes of pedicle, or antler base damage, that seems to be more common is what has been called "dirty sheds."

Gabriel Karns, who is currently avisiting assistant professor in the School of Environment and Natural Resources at Ohio State University, wrote an article published by QDMA about his work examining skulls of bucks with spikes on one side.

"Most commonly, it appeared that antlers had failed to cleanly separate from the pedicles, as in normally shed antlers,and that the antler base had fractured off portions of the pedicle and sometimes even the surrounding cranium those dirtysheds I mentioned earlier," Karns wrote."Although the antlerogenic periosteum tries to heal itself in advance of the next antler growing season, the integrity of the pedicle is compromised and becomes a messy combination of intact pedicle and callus tissue.

"Picture how water flows out of the end of a garden hose, then picture what happens when you partially block the nozzle with your thumb. The blood supply and nutrient flow necessary for normal antler development is impeded leading to stunted growth and irregular antler configurations due to the animals prior injury. Complicating the issue once initial damage occurs, subsequent antler cycles tend to re-aggravate the injury, resulting in repetitive abnormal antlers."

So, a spike on one side or otherwise deformed antler is likely caused by injury, but what if it isn't? What if it really is a genetic trait? Shouldn't the buck be harvested to prevent passing along that genetic trait? You can remove him, but you're not doing anything other than putting meat in the freezer.

"It's been shown over and over that you can't alter genetics in the wild," Adams said. "A buck with big antlers can sire a buck with small antlers and vice-versa. Those antler traits aren't 100 percent inheritable."

Adams' statement is backed by a study in Texas. Wild bucks were captured andmicrochipped. Samples of DNA were taken from them and they were released. Family trees of bucks were developed through DNA samples taken over a number of years. What the researchers discovered isin the wild there is no correlation between a buck's antler size and that of its offspring.

"Don't think you're making an improvement in the deer herd from a genetic standpoint," Adams said. "Hunters don't need to concern themselves or worry about it."

Deer hunting: 'It just made a good day that much better.' Father and son double down on big bucks

Win big money: You can win a share of $1,500 in the Big Bucks Photo Contest sponsored by Van's

Please, shoot them: 12 bucks on MSU Deer Lab's most wanted list. Here's why.

ContactBrian Broomat 601-961-7225 orbbroom@gannett.com. FollowClarion LedgerOutdoors on Facebookand @BrianBroom onTwitter.

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The genetic basis of Peruvians’ ability to live at high altitude – Ars Technica

Friday, November 15th, 2019

Enlarge / Many Peruvians are well adapted to high-altitude life in the Andes.

Eric Lafforgue/Art in All of Us

Sherpas are physiologically adapted to breathing, working, and living in the thin air of the Himalayas, enabling them to repeatedly schlep stuff up and down Mount Everest. The Quechua, who have lived in the Andes for about 11,000 years, are also remarkably capable of functioning in their extremely high homes. New work suggests that these adaptations are the result of natural selection for particular genetic sequences in these populations.

Both populations live above 14,000 feet (4,267m), under chronic hypoxialack of oxygenthat can cause headaches, appetite suppression, inability to sleep, and general malaise in those not habituated to altitude. Even way back in the 16th century, the Spaniards noted that the Inca tolerated their thin air amazingly well (and then they killed them).

Metabolic adaptations give these highlanders a notably high aerobic capacity in hypoxic conditionsthey get oxygenated blood to their muscles more efficiently. But the genetic basis for this adaptation has been lacking. Genome Wide Association Studies, which search the entire genome for areas linked to traits, had found tantalizing clues that one particular gene might be a site of natural selection in both Andeans and Tibetans. It encodes an oxygen sensor that helps cells regulate their response to hypoxia.

This new work looked for genetic variants that were more common in the Quechua population compared to white lowlanders from Syracuse, New York. The researchers then tried to correlate the variants with the Quechuas high aerobic capacity at altitude. But none of the genetic differences showed a significant association with high aerobic capacity, probably because the sample size429 Quechua and 94 lowlanderswas too small to detect one.

So the researchers subjected the data to a more sensitive statistical analysis. This analysis found five variants of the gene that were significantly associated with the Quechuas adaptive high aerobic capacity in hypoxic conditions; they also appeared significantly more frequently in the Quechua population than in lowlanders. This observation was buttressed by analysis of a second, independent cohort of Quechua compared to global populations from the 1000 Genomes Project.

All of the adaptive variants were in the regulatory region of the geneDNA that controls when and where the gene is active. None were in the part of the gene that encodes a protein. So, the location and timing of the protein's activity seems to be more important than the protein itself in the Quechua.

A number of conditions must be met to claim that a population is genetically adapted to specific conditions. First, there must in fact be an adaptation: in this case, enhanced aerobic capacity under hypoxia. Check. Next, that adaptation must be associated with a genetic variant, and that variant must occur in the population of interest at rates indicating that it is being selected for. Thats what this most recent work did.

But it has not shown that the adaptation has increased the groups fitness, in terms of improving fertility and/or limiting mortality. And it is not absolutely certain that aerobic capacity is the trait being selected for; it is possible that this gene does something else oxygen-related that is really the trait being selected for, and the observed enhanced aerobic capacity is just a bonus side-effect.

Tibetans have alterations to the protein encoded by this gene, which is intriguing. Even more intriguing is that the Tibetan variants are not associated with high aerobic capacity in hypoxia, but with low hemoglobin. Counterintuitively, this seems to help Tibetans at altitude by increasing their blood flow to an extent that compensates for the fact that the blood carries less oxygen.

PNAS, 2019. DOI: 10.1073/pnas.1906171116 (About DOIs).

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A new study hopes to prevent disease before it starts through genetics – KSL.com

Friday, November 15th, 2019

HURRICANE What would life be like if you knew you would get cancer one day, but could prevent it beforehand? Clinicians in Utah are hoping to accomplish just that through a new study.

One St. George man said he's participating for the health of his posterity.

Durward Wadsworth, 76, grew up on a farm in Southern Utah. He worked alongside his family tending to the fruits trees, horses, and other animals.

"We had to milk cows and bring hay in," he said.

The farm has remained, but things have changed.

"I have a brother that passed away. I have a sister that passed away, Wadsworth said.

They both died from cancer. Wadsworth was also diagnosed with colon cancer and finished chemo only a year ago.

It's not a fun treatment, he said. He went to the Dixie Regional Cancer Center for 12 rounds of chemo.

As a teenager Wadsworth was exposed to radiation during nuclear testing at the Nevada National Security Site.

"As kids, we didn't know any different, so we would go up on the hill and watch when one would explode and you could actually see the mushroom and hear the boom, he said.

Both his family history of cancer and heart disease, and his exposure to radiation, had him concerned.

His son encouraged him to participate in Intermountain Healthcare's HerediGene population study. Clinicians hope this study, in collaboration with deCODE Genetics of Iceland, will help them better understand the human genome.

Dr. Lincoln Nadauld, Chief of Precision Health at Intermountain Healthcare, said the study is unprecedented. He said it looks at the link between genes and human disease.

"This study is the largest of its kind. It's an attempt to map the genomes of 500,000 people over the next five years, Nadauld said. There is no genetic study in health care that has ever been reported or ever attempted that compares in size or scope.

Nadauld said this study will impact generations to come.

(It) will allow us and subsequent generations to better understand health and the origins of disease and health care-related issues, he said. It's going to change the way that we deliver health care for the better.

Nadauld hopes the study will help doctors better predict and prevent disease before someone is ill.

So let's intervene with either a medicine or a lifestyle change so that you never have to experience heart failure or heart attack or a stroke, he explained.

While this type of precision genomics started in oncology, Nadauld said his team has applied it to all of their medical disciplines, including cardiovascular and neurodegenerative disorders, metabolic issues and even mental illness.

This study could uncover the link between mental illness and genes, and could identify new treatments for mental illness, he said.

Even though Wadsworth still has a lot of life to live, he knows he probably won't personally benefit from the study by the time its completed. "But, you know, my posterity will benefit, he said.

That's enough motivation for him. Wadsworth said he doesn't want his five children and 18 grandchildren to suffer through cancer like he did.

"We want the best health care for them, he said. He also hopes they'll carry on the family farm.

Nadauld said the study isn't just for people who have been sick, but will include mostly healthy individuals.

He said it just takes a simple blood draw to participate. Nadauld said by the end of the year there will be 25 different walk-in clinics across the entire state.

Nadauld said he anticipates a very small percentage of the participants will be informed of a health issue, in which doctors and patients need to take action.

We expect that will happen in about 3% of our participants, he said.

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Genetic study reveals the family secrets of people in the 1800s – New Scientist News

Friday, November 15th, 2019

By Michael Le Page

Celebrating the Birth by Jan Steen, 1664. The Wallace Collection, London

In the 19th century, poorer families living in cities in Europe had a higher rate of children who werent biologically related to their legal fathers. This is according to a genetic study that looked at how this rate differs for different socio-economic groups.

It is widely assumed many men arent the biological fathers of their children. The rate of extra-pair paternity, as this is called, has been claimed to be as high as 30 per cent today. They look just like the milkman, goes the popular joke that no parent finds funny.

However, over the past two decades DNA studies in several countries have shown the average rate is low around 1 per cent. Maarten Larmuseau at KU Leuven in Belgium, who authored one of these studies, wondered whether there was a difference between groups.

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He suspected, for example, that the rate was higher among aristocrats in the 17th century, as there was often a large age gap between husband and wife. Extra-pair paternity is depicted in the 1664 painting Celebrating the Birth by Jan Steen, which shows a wealthy Dutch father holding his newborn child. But behind him a man is making the sign of the cuckolds horns, meaning the child was fathered by another.

Larmuseaus team identified 500 pairs of men in Belgium and the Netherlands where, according to genealogical records, each pair descended from the same male ancestor through a male lineage. Half of these ancestors were born before 1840 and the oldest was from 1315.

The men in each pair should have inherited their shared ancestors Y chromosome, as it comes from the father. When DNA testing revealed a mismatch, the team tested other male descendants to narrow down when a son had been fathered by someone other than the husband. All the men were volunteers and the team didnt test close relatives to avoid uncovering recent cases.

What we found was completely the opposite to what we expected, says Larmuseau.

The rate of extra-pair paternity among farmers and more well-to-do craftsmen and merchants was about 1 per cent, rising to 4 per cent among labourers and weavers and nearing 6 per cent among working class people who lived in densely populated cities in the 19th century. This was in comparison to a rate of around 0.5 per cent among the more well-off.

What the study cannot reveal is why people were more likely to be in this situation. We cannot give an explanation, Larmuseau says. We cannot interview them.

One possibility is that poorer women in cities were more vulnerable to male sexual violence and exploitation.

The overall rate was still low, at 1.6 per cent per generation. But that still means a very large number of people alive today may not be aware of their biological parentage. Larmuseau says 30 million people worldwide have done ancestry tests, which suggests up to 500,000 could have made a shocking discovery about their father. Companies offering these tests dont provide any counselling, he says.

Journal reference: Current Biology, DOI: 10.1016/j.cub.2019.09.075

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Genetics may be the reason why you hate vegetables, study shows – Yahoo Food

Friday, November 15th, 2019

Cant stand the taste of vegetables? Your genes may be to blame.

Preliminary newresearchpresented at the American Heart Association (AHA) Scientific Sessions shows that a specific gene makes certain foods especially, broccoli, cauliflower, cabbage, and Brussels sprouts taste extremely bitter to some people.

The gene in question is calledTAS2R38. Everyone inherits two copies of this taste gene, but which variant of the gene you get makes all of the difference. According to the AHA: People who inherit two copies of the variant called AVI arent sensitive to bitter tastes from certain chemicals. Those with one copy of AVI and another called PAV perceive bitter tastes of these chemicals; however, individuals with two copies of PAV, often called super-tasters, find the same foods exceptionally bitter.

In the study, researchers analyzed questionnaires from 175 men and women about how often they ate certain foods and found that those with the PAV form of the gene who are more sensitive to bitter tasting foods were more than two and a half times as likely to eat the least amount of vegetables.

For super-tasters, the bitterness they taste in vegetables goes beyond being mildly annoying. A super-taster is a person who experiences a bitter taste with a much greater intensity than others,Tina Sindher, MD, an allergist and immunologist with Stanford Health Care, tells Yahoo Lifestyle, noting that super-tasters have many more visible taste papillae (bumps on the tongues surface) with more taste receptor cells compared to others.

Or as the lead author of the study,Jennifer L. Smith, PhD, RN, put it to theAHA: Were talking a ruin-your-day level of bitter when they tasted the test compound.

Super-tasters have the hardest time eating brassica vegetables broccoli, cauliflower, Brussels sprouts, cabbage, turnips, collards, kale, bok choy along with spinach, coffee, and tart citrus flavors. Studies show that bitter tasters eat fewer soy products and drink less green tea, and rated these foods to be more bitter than non-tasters, says Sindher.

That bitterness is getting in the way of super-tasters eating their vegetables, which may mean losing out on some health benefits. An overall healthy diet thats rich in vegetables and fruits may reduce the risk ofheart disease, including heart attack andstroke, according to theU.S. Department of Agriculture. Vegetables are also a good source ofdietary fiber, which helps reduce blood cholesterol levels and may lower risk of heart disease.

And in case you were wondering, just because you hate cilantro doesnt mean youre a super-taster. Disgust with that particular herb, which some find smells like soap, is a combination of two genetic variants (one of which is tied to sensing odors), according toNature. Cilantros aroma is created by several substances, which include fragments of fat molecules called aldehydes the same (or similar) aldehydes youll find in soap and lotions, according to aNew York Timesreport.

Super-tasters are individuals who are sensitive to specific bitter compounds, none of which are found in cilantro, explains Sindher. In fact, an aversion to cilantro occurs due to genetic variants associated with sensing smells and sensitivity to the aldehyde chemicals that give cilantro its distinctive flavor.

But for true super-tasters, how can they make sure to eat their vegetables? Unfortunately, theres no obvious way to disguise the bitter taste, explains Sindher. However, some strategies may be to sprinkle some sweetness to help mask bitter flavors, she says. Spices can help enhance flavor. Adding a little fat can also decrease bitterness.

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Aversion to Broccoli May Have Genetic Roots – Scientific American

Friday, November 15th, 2019

If you have heart disease, your doctor might tell you, eat more vegetables. A tactic that haslimited success.

Getting people to change their diets is actually pretty hard. These are lessons I would give over and over again. And I would think, Why is this so hard to do?

Jennifer L. Smith is a nurse researcher at the University of Kentucky who now has a preliminary answer about why change is so hard: it might depend on your genes. Specifically, whether or not youre genetically predisposed to perceive bitternessand therefore bitter veggies.

So broccoli is definitely one of them. They tend to be cruciferous vegetables, like broccoli, cauliflower, cabbage, brussels sprouts, asparagus."

If you ever took that test in science class where you put a piece of paper on your tongue to see if it tastes bitter, you might already know your bitter status.

Smith took saliva samples from 175 adults known to be at risk of cardiovascular disease. She then did a genetic test to determine whether they had a copy of a bitter-taste gene variant. She also had them fill in a questionnaire about their eating habits.

After controlling for factors like age, gender, income, and so on, Smith found that people with a copy of the bitter-sensitive gene variant were just 40 percent as likely to report eating a lot of veggies as were the folks without the gene variant.

Shes presenting the results this week at the American Heart Association Scientific Sessionsin Philadelphia. [Jennifer L. Smith et al., TAS2R38 haplotype predicts vegetable consumption in community dwelling adults at risk for cardiovascular disease]

If these findings hold up to more testing, Smith says, perhaps doctors could advise patients with this gene variant to avoid the most offensively bitter veggies but to try the others. Or perhaps certain herbs and spices might counteract the bitterness, she says.

Of course, chefs already figured this outwith cheesy broccoli. But for heart patients, the better flavor might not be a favor.

Christopher Intagliata

[The above text is a transcript of this podcast.]

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Endangered birds leave genetic clues in their drinking water – Cosmos

Friday, November 15th, 2019

By Natalie Parletta

Australian researchers have worked out how to trace an endangered bird species by analysing water samples from its drinking holes.

Using environmental DNA (eDNA), a team led by Karen Gibb from Charles Darwin University identified the movements of the stunning rainbow-coloured Gouldian finch (Erythrura gouldiae), a species native to tropical savanna woodlands in Australias north.

Once numbering in the millions, there are now just 2500 adults as a result of the illegal bird trade, altered habitat, predators and wildfires, and the species is listed as endangered.

eDNA is used to detect the locations and numbers of rare and threatened species from water samples and to date has mostly been applied to freshwater animals.

Gibbs and team, including colleagues from the University of Western Australia, saw an opportunity to track the Gouldian finch using water sample analysis, as it needs to drink several times a day.

To do this, they developed a test that can identify estrildid finches from a fragment of mitochondrial DNA, and a probe specifically designed to detect Gouldian finch DNA.

This was necessary to distinguish the colourful finches from masked finches (Poephila personata) and long-tailed finches (P. acuticauda) other estrildid species that often flock together at the same waterholes.

Its a much more accurate test, says Gibb. By having primers that pick up other finches it tells us the eDNA is good enough quality to be amplified. If the Gouldian test is then negative, we can be confident that the eDNA test worked, but there just werent Gouldian finches at that site.

First, they piloted it in wildlife park aviaries before doing field trials at the Yinberrie Hills in the Northern Territory, where scientists and rangers had good observation data to validate the tests.

With a 200-millilitre water sample they could successfully detect Gouldian finch eDNA from waterholes the birds had visited in the previous 48 hours, and where there were lots of birds, it was still measurable from the samples two weeks later.

When it worked in the real world at the waterholes, even where the water was poor quality in places where it was hot and looked a bit oily we were really excited, says Gibb.

The study opens new options for rangers and scientists to keep track of the birds movements by simply collecting small water samples during their explorations, which will help inform conservation efforts.

People who are travelling around will be able to put a cup of water into an appropriate container and then into a car fridge, and be able to take a lot of samples, Gibbs says. We can cover a much larger area.

The study is published in the journal Endangered Species Research.

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Invitae Launches Invitae Discover Research Platform on Apple Watch; First Study on Platform Will Investigate Genetic Causes of Cardiovascular Disease…

Friday, November 15th, 2019

--Study announced in conjunction with American Heart Association's Scientific Sessions--

--Researchers also presenting data on limitations of highly targeted screening strategies in familial hypercholesterolemia--

PHILADELPHIA, Nov. 15, 2019 /PRNewswire/ --Invitae Corporation (NVTA), a leading medical genetics company, today announced Invitae Discover, a clinical research platform that leverages biometric data available through Apple Watch to provide better understanding of the genetic causes of disease. The first study on the platform will evaluate genetics in cardiovascular disease and was announced in conjunction with the American Heart Association's Scientific Sessions where researchers are presenting data on genetic screening in familial hypercholesterolemia.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. http://www.invitae.com (PRNewsFoto/Invitae Corporation)

"The creation of the Invitae Discover platform will make it easier to conduct studies that assess genetic test results alongside the biometric data that is now easily available on Apple Watch, thereby joining basic electrophysiological data with genetic information in order to advance our understanding of the genetic underpinnings of disease and help improve clinical care," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Our first study on the platform is designed to determine the contribution of certain genetic variants to clinical presentations of atrial fibrillation and other cardiovascular conditions associated with abnormal heart rhythms, as well as to improve the interpretation of genetic testing results."

The first study on Invitae Discover is the Afib CAUSE Study. Patients who have genetic testing through Invitae can enroll in the study via the Invitae Discover app. The study will combine health and activity data from Apple HealthKit with clinical genetic testing results. In addition to assessing known genetic variants, the study will specifically evaluate biometric data for patients whose genetic testing included variants of uncertain significance (VUS) to help build preliminary data that improves variant classification and, ultimately, provide evidence to support resolution. The Invitae Discover app is available on the Apple app store. The Afib CAUSE study is open to U.S. residents 18 years of age and older and enrollment criteria can be accessed through the Invitae Discover app.

The study will be conducted under the supervision of an Institutional Review Board (IRB). As a medical genetics company, Invitae is subject to and fully complies with the privacy and security requirements under HIPAA for all its patients.

Separately at the AHA Scientific Sessions, Invitae researchers will be participating in a moderated poster session at the AHA meeting to discuss research quantifying the low diagnostic yield of highly targeted, direct-to-consumer genetic screening strategies in familial hypercholesterolemia. The study will be presented on November 17th during the Cardiovascular Genomic Medicine session at 2:20pm.

About InvitaeInvitae Corporation (NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

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Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the attributes and potential benefits of the company's clinical research platform; and the design and potential benefits of the company's first study on the platform. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo pr@invitae.com (628) 213-3283

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Correlation Found Between Left-Handedness and Genetic Markers Associated with Neurological Disease – JD Supra

Friday, November 15th, 2019

Updated: May 25, 2018:

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Correlation Found Between Left-Handedness and Genetic Markers Associated with Neurological Disease - JD Supra

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Investigative Genetic Genealogy Used to Charge Man With Murder, Rape in 1980s SoCal Killings of 2 Women – KTLA Los Angeles

Friday, November 15th, 2019

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Prosecutors have charged a man with murder and rape in the killings of two women during the 1980s, after using investigative genetic genealogy to solve the crimes, Los Angeles County District Attorney Jackie Lacey said in a news release Friday.

The charges filed Friday are the first in L.A. County to use the forensic technology, authorities said.

Thanks to advances in technology and forensics, we are now able to virtually reach back in time and find those responsible for these vicious crimes, District Attorney Lacey said.

Horace Van Vaultz Jr., 64, was charged with two counts of murder, with special circumstance allegations of multiple murders, crimes committed during a rape and sodomy, and with lying in wait for each victim, the news release said.

Van Vaultz is accused of murdering Mary Duggan, 22, on June 9, 1986. Duggan's body was found in the trunk of a car in a Burbank parking lot, authorities said. She was bound, sexually assaulted and died from asphyxia because a tissue was stuffed down her throat, according to the release.

The second murder charge is for the killing of Selena Keough, 20, on July 16, 1981. Keough was found under some bushes in Montclair in San Bernardino County. She was also bound, sexually assaulted and strangled, authorities said.

Van Vaultz faces the death penalty or life in prison with the possibility of parole if convicted of the charges, the DA's office said.

His arraignment is expected to take place on Monday.

Investigators have reached out to other law enforcement agencies to determine if Van Vaultz is responsible for other unsolved murders in the state, the release said.

With dedicated resources and rapidly advancing technology, we can unmask the cowardly murderers who have remained hidden in our community and bring justice to the grief-stricken families who have waited too long for answers, Lacey said in the release.

The case remains under investigation by the Burbank and Montclair police departments and the FBI's Forensic Genetic Genealogy Team, authorities said.

Anyone with information is asked to contact the Burbank Police Department tip line at 818-238-3086.

34.052227-118.243660

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Investigative Genetic Genealogy Used to Charge Man With Murder, Rape in 1980s SoCal Killings of 2 Women - KTLA Los Angeles

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Modern genetics will improve health and usher in designer children – The Economist

Wednesday, November 13th, 2019

SOMETIME NEXT year, if all goes to plan, a gay male couple in California will have a child. The child in question will have been conceived by in vitro fertilisation. In this case a group of eggs from a female donor are now being fertilised by sperm from both fathers (half from one, half from the other). Of the resulting embryos, the couple will choose one to be implanted in a surrogate mother. An uplifting tale of the times, then, but hardly a newsworthy event. Except that it is.

Where the story becomes newsworthy is around the word choose. For the parents, in conjunction with a firm called Genomic Prediction, will pick the lucky embryo based on a genetically estimated risk of disease. Such pre-implantation testing is already used in some places, in cases where there is a chance of parents passing on a condition, such as Tay-Sachs disease, that is caused by a single faulty gene. Genomic Prediction is, however, offering something more wide-ranging. It is screening embryos for almost 1m single-nucleotide polymorphisms (SNPs). These are places where individual genomes routinely differ from one another at the level of an individual genetic letter. Individual SNP differences between people rarely have much effect. But add them up and they can raise or lower by quite a lot the likelihood of someone suffering a particular disease. Generate several embryos and SNP-test them, then, and you can pick out those that you think will grow up to be the healthiest.

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Much fuss was made last year about a researcher in China, He Jiankui, who edited the genomes of two human embryos in order to try, he claimed, to make them immune to infection by HIV, the virus that causes AIDS. What Genomic Prediction proposes is different. No editing is involved. There is thus no risk of harming a child by putting it through a risky experimental procedure. Whether Genomic Predictions particular technique will actually deliver super-healthy children remains to be seen. The principle seems plausible, though. History may therefore look back on this moment as the true beginning of designer babies. And the tool that has made that possible is called GWAS.

GWAS stands for genome-wide association study. It is the endpoint of a historical process that began in the mid-19th century with Gregor Mendel, a Moravian abbot and amateur botanist. Mendel worked out the first set of rules of heredity. This led to the idea of a gene. And that, when allied with the discovery that the material of heredity is a chemical called DNA, which encodes genetic information in the order of its component units, known as nucleotides, led to the idea of a gene being a particular piece of DNA that carries in its nucleotides the blueprint of a particular protein. This protein goes on to contribute, in combination with environmental effects such as nutrition, to a particular bodily or behavioural characteristic, known as a phenotypic trait.

Since the 1950s, researchers have tried to quantify the relative contributions of genes and the environment to such traits. Mostly, this is in the context of disease. But behavioural characteristics, personality and cognitive ability have also been matters of interest. GWAs expands this process by looking not just at the effects of individual genes, but across the whole genomefor protein-coding genes make up only about 2% of a persons DNA.

Comparisons, over several generations of a family, of the prevalence of a particular trait yield estimates of its heritabilitya measure of how well individual genetic differences account for variations in that trait in a given population. A heritability of 100% indicates that any differences in a trait between individuals in that population are accounted for solely by genetic factors, while 0% suggests the environment alone is responsible. The phrase given population is important. Some populations may be exposed to relevant environmental variables unknown to others. Conversely, genetic factors present in one group (better response to oxygen scarcity in those evolved to live at high altitude, for example) may be absent in another.

An analysis published in 2015 of more than 2,700 studies of heritability shows that its average value, for all traits looked into in those studies, is about 50%. That includes physical traits like susceptibility to heart disease (44%) and eye disorders (71%), and mental ones, including higher-level cognitive functions (47%) such as problem-solving and abstract thought.

Other, less obvious traits are heritable, too. The amount of time a child spends watching television was assumed for many years to have a heritability close to zero. In 1990, however, a study led by Robert Plomin, now at Kings College, London, compared the habits of adopted children with those of their birth mothers. It found television-watching has a heritability of about 45%. Similar surprisingly heritable traits include a childs tendency to be bullied at school (more than 70%) or to be accident-prone (51%). Even someones likelihood of being religious (30-40%) or of getting divorced (13%) is heritable.

In 1989 James Watson, the first head of the Human Genome Project, summarised the mood of many by declaring that We used to think our fate was in our stars. Now we know, in large measure, our fate is in our genes. There was hope then that the genome project would locate those genes. No one was naive enough to think that there existed, say, such a thing as a gene for television-watching. But it was reasonable to believe that there might be a handful of genes which combined to encourage television-watching indirectly. More important, there was an expectation that the heritable causes of things like heart disease might be pinned down to such genetic handfuls. These might then be investigated as drug targets. To everyones frustration, though, few such genes revealed themselves. And in most cases the contributions they made to a conditions heritability were small. Where, then, was the missing heritability?

With hindsight, the answer was obvious. The number of variants that play a role in disease risk is far higher than Mendel-blinded researchers had imagined. Though human beings are genetically more than 99.9% alike, they have 6bn genetic letters in their genomes. This is where the SNPs are hidden, for a diversity of less than 0.1% still leaves room for millions of them. And when SNPs contributions are combined, their effects can be significant. For height, for example, the number of relevant SNPs is reckoned to be about 100,000each adding or subtracting, on average, 0.14mm to or from a persons adult stature. Furthermore, most of these SNPs are in parts of the genome that do not encode proteins at all. Rather, they regulate the activities of other genes and often have no obvious connection to the trait in question.

To be fair, it was mainly human geneticists who were captivated by the simple Mendelian model of single genes with big effects. According to Peter Visscher of the University of Queensland, Australia, many plant and animal scientists knew of traits genetic complexity long before the Human Genome Project started. But they were more interested in breeding better crops or livestock than in understanding the biology behind such complexity.

Dr Visscher was one of the first to realise that human studies would need to recruit more participants and screen for many thousands more SNPs if they were to capture in full the genetic components of most traits. In 2007 he and his colleagues used models to show that for a condition with a prevalence of 10% in the general population, approximately 10,000 volunteers are required to identify the SNPs marking the 5% of those at highest risk of developing that condition. Earlier studies, often with just a few hundred participants, had simply not been powerful enough to see what was going on. And thus was GWAS born.

Ideally, a GWAS would obtain a full sequence of the genome of every participating individual. However, even though the cost of such sequences has fallen dramatically since the completion of the genome project, to about $1,000 a shot, this would still be prohibitively expensive. Instead, researchers use devices called SNP arrays. These detect hundreds of thousands of the most common SNPs for a price of $50 or so.

A combination of SNP arrays, larger samples of volunteers and better computing methods means it is now possible to find millions of variants that contribute to a trait. An individuals score from these variants, known as his polygenic score, can then be calculated by adding up their contributions to give, for example, his risk of developing a particular disease in later life.

Another advance has been a change in the way volunteers are recruited. Institutions called biobanks have come into existence. These hold both tissue samples from, and a range of medical and other data about, large numbers of people who have agreed to make those data available to researchers who meet the criteria employed by the bank in question.

Among the largest of these repositories is the UK Biobank, in Britain. This has 500,000 depositors. One study that drew on it, published in 2018 by Sekar Kathiresan of the Massachusetts General Hospital in Boston and his colleagues, worked out polygenic risk scores for five diseases, including coronary heart disease and type 2 diabetes. By totting up scores from over 6m genetic variants, they were able to elucidate SNP patterns that identify those who are at a threefold higher risk or worse than the general British population of developing one of these diseases. For heart disease, 8% of the population are at such risk. For type 2 diabetes, 3.5%.

Nasim Mavaddat of the University of Cambridge and her colleagues have similarly calculated polygenic risk scores for breast cancer. These showed that a British womans average ten-year risk of developing breast cancer at the age of 47 (the earliest that Englands National Health Service begins screening for the disease) is 2.6%. The study also found that the 19% of women who had the highest risk scores reached this level of risk by the age of 40. Conversely, the 10% at lowest risk did not cross the threshold until they were 80.

Using these and similar studies, it is possible to draw up lifetime risk profiles for various medical conditions. A British firm called Genomics has done that for 16 diseases (see chart). This will help screening programmes to triage who they screen, by offering their services earlier to those at high risk of developing a condition early in their lives. It will also permit the dispensing of risk-appropriate advice about diet and exercise to those who need it most, and the early offering to those who might benefit from them of things like statins and antihypertensive drugs. In light of all this Englands National Health Service announced in July that 5m healthy Britons would be offered free gene tests.

A third study that drew on the UK Biobank is rather different. It was published in October and demonstrated the power of GWAS to reach beyond non-medical matters. It examined patterns of internal migration in Britain, and showed that there has been an outward migration from former coalmining areas of people with SNP patterns associated with high educational attainmentprecisely the sorts of individuals economically deprived places can least afford to lose.

Educational attainment also demonstrates how heritability varies with environment. In Norway, for example, heritability of educational attainment increased after the second world war as access to education widened. Since all children now had more or less the same opportunities at school, environmental variation was largely ironed out and the effects of genetic differences consequently exaggerated.

Both of these examples foreshadow how the sort of genetics made possible by GWAS can have political consequences. The implication of the internal-migration study is that the geographically left-behind are dimmer, on average, than the leavers. The implication of the Norwegian study might likewise be seen by some as suggesting that those who have done well at school and thus snagged the best (and best-paid) jobs are part of a genetic elite that deserves its success, rather than being the lucky winners of a genetic lottery.

And that is just within a country. Start comparing people from different parts of the world and you enter a real minefield. Because most of the genetic data now available come from populations of European ancestry, their predictive power is poorer for people from elsewhere. Alicia Martin of the Broad Institute in Massachusetts and her colleagues scored West Africans for height based on SNPs drawn from studies on European or European-derived populations. The scores predicted that West Africans should be shorter than Europeans. Actually, they are not.

As more people of non-European ancestry are sequenced, these problems may abate. But if group-based differences emerge or persist in the face of better data, that would be cause for concern. Differences between groups in things like height are rarely cause for prejudice beyond a jocular level. For something like educational attainment, by contrast, there is a risk that politically motivated groups would try to exploit any differences found to support dubious theories of racial superiority.

To some historians, this looks horribly familiar. They fear that the old spectre of eugenics risks rising in a new guise. As Nathaniel Comfort of Johns Hopkins University, in Baltimore, observes, The IQ test was invented in order to identify students who needed extra help in school. But within about a decade, it was being used as a tool to weed out the so-called feebleminded, not just from school but from the gene pool. Such fears of genetic stratification would become particularly acute if polygenic scores were applied to embryos for the purpose of selecting which to implant during IVFas Genomic Prediction is just about to do.

Genomic Prediction and a second firm, MyOme (which is not yet accepting customers), claim to be able to build up an accurate picture of an embryos genome. That is tricky because the sequencing has to be carried out using the tiny quantities of DNA in a few cells taken from that embryo. A sequence so obtained would normally be full of errors. The two companies say they can deal with this by comparing embryonic sequences with those of the biological parents. All of the DNA in the embryo has come from one or other parent, so blocks of embryonic DNA can be matched to well-established sequences from their parental progenitors and an accurate embryonic sequence established. That makes working out the embryos SNP pattern possible.

Genomic Prediction thus says it is able to offer couples undergoing IVF a polygenic risk score for each embryo for a variety of diseases including type 1 diabetes, type 2 diabetes, breast cancer, testicular cancer, prostate cancer, basal-cell carcinoma, malignant melanoma, heart attack, atrial fibrillation, coronary artery disease, hypertension and high cholesterol. At the moment it does not offer scores for non-medical traits like height or educational attainment. But there is nothing to prevent it from doing so should it so wish.

Even for medically relevant scores, however, some worry about this approach. One concern is pleiotropythe phenomenon of the same piece of DNA influencing several apparently unrelated traits. Choosing an embryo with a low risk of heart disease might accidentally give it, say, a higher chance of developing epilepsy. Single-mindedly maximising scores for positive traits like intelligence or height may therefore increase the risk of genetic disorders.

Stephen Hsu of Michigan State University, one of Genomic Predictions founders, acknowledges the theoretical risk of this, but argues that serious pleiotropic effects are unlikely. If you looked at a bunch of kids with IQs of, say, 160 or 170, he says, I doubt youd find much seriously wrong with them. Theyd just be a bunch of geeks. Dr Hsu, who in 2014 predicted that reproductive technologies would soon be used to select for more intelligent offspring, estimates that an IQ gain of between 10 and 15 points would be possible if couples were allowed to choose between ten embryos. He also thinks that further gains would probably accumulate if people selected in this way went on to select their own offspring on the basis of intelligence.

This is plausible. Before 2008, when the first SNP chips for cattle became available, the annual milk yield of dairy cows in America had been increasing at about 50kg per year. After six years of chip-based polygenic selection, the rate of increase had doubled to more than 100kg per year. This suggests the technique is powerfulin cattle at least. Despite Dr Hsus optimism, however, pleiotropism has reared its head in these animals. They have become less fertile and have weaker immune systems.

In the end, then, it is generally a good idea to remember that human beings have already been optimised by a powerful agent called natural selection. Trade-offs between different pieces of physiology, even in domestic animals, will have been forged in the crucible of evolution and will generally be optimal, or close to it. Genetic tinkering may sometimes improve things. But by no means always.

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Modern genetics will improve health and usher in designer children - The Economist

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GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain – Business Wire

Wednesday, November 13th, 2019

LOS ALTOS, Calif. & FAIRFIELD, Calif.--(BUSINESS WIRE)--GenomeSmart, a Silicon Valley-based company delivering the first and only AI-powered genetic risk assessment and test recommendation platform to improve access to genetic testing, announced today that NorthBay Healthcare, an independent nonprofit health system in Northern California, has selected the GenomeBrain Platform for a pilot program planned to improve the routine use of genetic testing in patient care.

Weve looked at many options to support our providers but the GenomeBrain Platform offered us more of the critical features we wanted plus gave us the ability to customize to our needs, said Lori Muir, Oncology Services Director. NorthBay Healthcare is dedicated to delivering best-in-class oncology care to the patients we serve and we believe ensuring easy access to genetic testing is a critical part of those vital services. Were looking forward to working with GenomeSmart to support our providers in better identifying patients for testing, efficiently tracking available tests, and speeding access to hereditary risk results.

"This approach to screening patients will make it much easier for people to understand why and when genetic testing can impact their healthcare decisions. We are bridging an educational gap that, until now, has made access to genetic testing difficult. Our patients will no longer wonder if genetic testing is right for themthey will know before they even come in to see me," added Karen Vikstrom, MS, Certified Genetic Counselor, NorthBay Healthcare.

The NorthBay Healthcare pilot program will be completed in conjunction with the NorthBay Breast Cancer Program. The pilot is designed to ensure patients with breast cancer receive treatment based on genetic risk and to scale testing into routine care for healthy women and men to identify potential hereditary risks, ensuring appropriate access to screening and care programs. The GenomeBrain Platform will be incorporated into the current patient workflow and evaluated for effectiveness and ease of use.

The GenomeBrain Platform is accessed online through a mobile phone, tablet, or desktop device. The simplified experience first builds a patient profile, including their relevant personal medical history, family medical history, ethnicity and age, and then instantly matches them to the appropriate genetic tests based on the latest medical guidelines for genetic testing. GenomeBrain uses AI to ingest large amounts of data from patient history, genetic tests available on the market, and medical guidelines to simplify a cumbersome manual process that usually takes days to less than ten minutes on average.

Were thrilled to be partnering with NorthBay Healthcare on this important initiative, said Sanjay Sathe, CEO and co-founder, GenomeSmart. The NorthBay teams agility and interest in innovative approaches to care make them the ideal partner for us. They are able to implement efforts quickly and provide personalized care to their local community that rivals many larger urban-based institutions, all for the betterment of their patients.

About GenomeSmart

GenomeSmart is on a mission to make genetic testing available to everyone. In May 2019, the company launched GenomeBrain, the first and only AI-powered genetic risk assessment and test recommendation platform that matches and identifies people who could benefit from genetic testing. The affordable GenomeBrain Platform multi-functional solution is available to help genetic counselors, physicians, hospital systems, genetic testing labs, insurance companies, and corporations improve the effective use of genetic testing to save lives, improve quality and reduce costs of healthcare.

About NorthBay Healthcare

NorthBay Healthcare opened its first hospital in 1960 and remains Solano Countys only locally based, locally managed nonprofit health system. NorthBay Medical Center in Fairfield and NorthBay VacaValley Hospital in Vacaville offer 24-hour emergency care, intensive care, and sophisticated surgical and diagnostic services. NorthBay Cancer Center, located on the Vacaville campus, opened more than 30 years ago. NorthBay Healthcare is a member of the Mayo Clinic Care Network, giving its patients access to world-renowned physicians and Mayo Clinic research.

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GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain - Business Wire

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" – The National Interest Online

Tuesday, November 12th, 2019

Key Point: the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat.

Want to be a Russian paratrooper or tank commander? Then youd better hope you have the right genes.

The Russian military will be assigning soldiers based on their genetic passports.

The project is far-reaching, scientific, fundamental, Alexander Sergeyev, the chief of Russias Academy of Sciences, told Russian news agency TASS back in the summer (English translation here). Its essence is to find such genetic predispositions among military personnel, which will allow them to be properly oriented according to military specialties.

It is a question of understanding at the genetic level who is more prone to, for example, to service in the fleet, who may be more prepared to become a paratrooper or a tankman.

Advances in medical technology are making genetic testing a common medical procedure. It is used to detect genetic diseases such as cystic fibrosis, or the risk of developing certain diseases such as colorectal cancer. Pregnant women can also choose to be tested to determine whether their baby has genetic abnormalities such as Down syndrome.

But Russian President Vladimir Putin has embraced genetics with a passion. In March, the Kremlin issued a decree that called for implementation of genetic certification of the population, taking into account the legal framework for the protection of data on the personal human genome and the formation of the genetic profile of the population. Ostensibly this is to protect Russias population against chemical and biological attack, as well as safeguard Russias genetic patrimony from Western spies and saboteurs.

It has also spurred fears that Russia is edging towards a Nazi-style eugenics program in which certain groups, such as those Russians of Slavic ancestry, will be favored.

Either way, the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat. The project involves not only the assessment of the physiological state, but also the prediction of human behavior in stressful, critical situations that are associated with the military profession, says Sergeyev, Russia's chief scientist. Resistance to stress, the ability to perform physical and mental operations under the conditions of this stress, and so onall this may be contained in a soldiers genetic passport.

It is not just soldiers who will be genetically profiled. In December 2018, another Russian scientist announced that cosmonauts will be tested. The first area is the research into the humans genetics from the viewpoint of using it in the selection [for the cosmonaut program], said Lyudmila Buravkova, deputy director of the Institute of Medical and Biological Problems at the Russian Academy of Sciences. The second area is the attempt to remedy genetic errors as much as this should be done before a flight.

To be clear, many militaries use some kind of testing, such as the U.S. militarys Armed Services Vocational Aptitude Battery (ASVAB), to determine whether someone is qualified for military service, and whether they are suitable for certain positions such as technical jobs. The U.S. military collects DNA from soldiers to identify their bodies if they are killed. The Defense Health Agency told the National Interest that the U.S. military does not use genetic testing to assign personnel.

Thats not surprising, given that genetic testing would certainly raise concerns over privacy and racial profiling. A civil rights issue that isnt likely to be a cause of furor in an authoritarian society like Russia.

The bigger question is whether an army can decide whether someone is better suited to be a pilot, a rifleman or a cook based on their genetic profile.

Michael Peck is a contributing writer for the National Interest. He can be found on Twitter and Facebook.

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" - The National Interest Online

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Scientists Measure Mouse Personality and Map Traits to Their Genetics – SciTechDaily

Tuesday, November 12th, 2019

Scientists at the Max Planck Institute of Psychiatry in Munich, Germany, together with colleagues at the Weizmann Institute of Sciencein Israel have developed a computational method to objectively measure the personality of mice living in a semi-natural, group environment.

Just like humans, every mouse is different. Some are quick to explore a new environment while others prefer to stay within the comfort of their nest. Some prefer to stay close to their cage-mates, while others prefer to be alone. These unique characteristics of an individual remain fairly stable through life and define their personality. In humans, personality can be measured using multiple-choice questionnaires to derive personality scores but how can one measure personality in animals?

Oren Forkosh and Stoyo Karamihalev, together with other colleagues collected huge amounts of data by analyzing video footage taken of groups of mice. To do this, they dyed the fur of each mouse a different color allowing them to track the groups of mice behaving undisturbed. Each video was analyzed for a repertoire of 60 behaviors, such as how close a mouse stays to other mice, if they chase one another or run away, or the time spent in the nest or eating.

Some mice are curious and explore every new hiding place. Others are more anxious and prefer to stay in their nest. Credit: MPI f. Molecular Genetics

The scientists developed a mathematical algorithm that sought stable traits that were able to discriminate individuals based on differences in behavior. This method works somewhat in the same way as personality tests in humans in which people are often assessed on five dimensions, however, it specifically searches for traits that are consistent over time. In mice, the algorithm identified four trait-like dimensions that could capture and describe the behavior of mice. To test that these traits were stable, the researchers mixed up the groups and found that while some of the behaviors had changed, the personalities of the mice were still stable. Using advanced RNA-sequencing tools and genetically modified mouse strains, the researchers were also able to show that individual differences captured in these traits corresponded to a variety of differences in gene expression in the mouse brain and could identify mice with different genetic makeup.

This method has the potential to greatly advance our knowledge beyond what is possible using the current simplified methods for assessing behavior and toward stable and consistent differences in personality. It opens up the possibility to study how personality is affected by genes, drugs, aging, etc., how it is represented and maintained by the brain, and how it contributes to mental health and disease, explains Karamihalev, together with Oren Forkosh one of the first authors of the study published in Nature Neuroscience. This is a good first step in the direction of better pre-clinical methods for assessing individual differences in behavior and physiology, says Alon Chen, the principal investigator for this study. Our hope is that such approaches will aid in the effort toward a more personalized psychiatry.

Reference: Identity domains capture individual differences from across the behavioral repertoire by Oren Forkosh, Stoyo Karamihalev, Simone Roeh, Uri Alon, Sergey Anpilov, Chadi Touma, Markus Nussbaumer, Cornelia Flachskamm, Paul M. Kaplick, Yair Shemesh and Alon Chen, 4 November 2019, Nature Neuroscience.DOI: 10.1038/s41593-019-0516-y

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Scientists Measure Mouse Personality and Map Traits to Their Genetics - SciTechDaily

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