Musculoskeletal injury: New cellular targets to assist the tendon repair process – SelectScience

Discover how RNA in situ hybridization assays are being used to advance research into treatments for Achilles tendon injuries

Orthopedic injury, specifically tendon injuries, are extremely prevalent. Depending on the severity of the injury, treatment ranges from rest to surgery. Often, tendon repair is a lengthy process that results in decreased mechanical function and can lead to chronic pain. The cell populations that make up the tendon, and the roles they play in the repair process, remain incompletely understood. Understanding the cellular makeup of tendons and its rolein repair could lead to improved treatments for tendon injuries.

In this exclusive SelectScience interview, we discuss this phenomenon with Jacob Swanson, a scientist in the lab of Dr. Christopher Mendiasin New York. Here, Swanson discusses the Mendias labs extensive research concerning the anatomy and physiology of the Achilles tendon, in both normal health and disease contexts. Swanson highlights how the use ofRNAscope technology has helped his work and why he hopes to continue to use this technology in future studies.

The Achilles tendon connects the calf muscle (the gastrocnemius and soleus) to the heel bone (the calcaneus). The role of the tendon is to transfer load between the soft tissue of the muscle and the hard tissue of the bone. The proximal side of the tendon attaches to the muscle and distal side attaches to the bone. Locating where different cell populations are in respect to this geometry is important when studying the tendon function.

JS:The main project that I've been working on is a descriptive study that aims to better understand the cells that make up the Achilles tendon. One major component of the tendon is a cell population called tenocytes, which are fibroblasts responsible for producing the collagen that makes up the tendon. However, the transcriptomes of cell types within Achilles tendon, including tenocytes, remain poorly characterized. To better understand these cell types, we used single-cell RNA sequencing technology (scRNAseq). Starting with Achilles tendon tissue, we enzymatically broke it down into a single-cell suspension and looked at the genetic information from each individual cell. We then clustered these cells using computational analyses to better understand the transcriptomic heterogeneity of cells in the Achilles. We then used RNAscope technology to histologically validate these cell populations

From this study, we identified interesting findings about fundamental tendon cell biology. We hope that this information can be used as an aid in future experiments and give us a better idea of how to assist the tendon-repair process.

JS:RNAscope technology allows one to visualize gene expression and RNA within cells in a broader histological context. For us, this means that we can see where the genes of interest are within the context of the Achilles tendon. We initially used immunofluorescent protein staining, but this proved ineffective because the markers often became incorporated into the extracellular matrix, making it hard to identify which specific cells these proteins came from. With RNAscope, we can directly probe for the mRNAs highlighted by RNAseq data within the cells, which allows us to more accurately identify and visualize where these novel cell populations are.

In our RNAscope protocol, we have several probes for genes based our scRNAseq data. First, we digest the cells slightly to allow the probe to enter the cells to hybridize to the RNA. Then there is a series of amplification steps that allow us to image three probes on a confocal microscope, cleave the fluorophore tag off, and then detect the next set of targets with the specified fluorophore tag. Theoretically, we can image up to 12 genes per sample all on the same section. This means we can get a profound amount of information on just one tissue section.

This makes RNAscope a powerful tool to visualize novel cell populations and the gene-specific probes allow us to see cell-to-cell heterogeneity. With this, you're able to see the difference in gene expression, even in cells that are right next to each other, which is difficult to detect with standard protein staining.

JS: In the past, it's been shown that the adaptive immune response is turned on in response to tendon injury, but the innate immune response hasnt been well studied before. In one study, we are focusing on this innate immune response, outlining possible mechanisms as to how the different cells are talking to each other within this response. We use healthy mice and perform Achilles tendon tear-and-repair surgeries. Over different time points, we monitor the various states of the immune response around the tendon, by collecting both tendon samples and samples from the lymph nodes that drain the tendons. We then analyze the different markers that are expressed at different times during the innate immune response using genetic and protein analysis, plus flow cytometry, to put together a picture of what happens following tendon injury.

JS: There is the potential to play with gene manipulation in future experiments. It could be that some of the cell types in Achilles tendons have positive effects in the injury process, but others might have negative effects. So, we could try to manipulate in both directions to redirect these cells during the injury course either by deleting or boosting the expression of a gene within the tendon. Additionally, our scRNAseq work thus far has been in mice, so it is important to also analyze the transcriptomes of human tendon cells to better understand how they may respond to injuries.

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Musculoskeletal injury: New cellular targets to assist the tendon repair process - SelectScience

Arctoris Ltd Strengthens Senior Team to Continue the Development of its On-Demand Drug Discovery Services – BioSpace

OXFORD, UK 13th November 2019 Arctoris Ltd, a fully automated drug discovery platform for virtual and traditional biotechnology companies, pharmaceutical corporations and academia, today announced the appointment of Professor John Mattick AO FAA FTSE FAHMS FRSN HonFRCPA GAICD as a Member of the Board of Directors, and Daniel Thomas PhD LCGI as Head of Discovery Biology. Arctoris is strengthening its senior team while the company is growing its commercial operations and service portfolio to enable more customers to rapidly reach their next drug discovery milestone.

Martin-Immanuel Bittner MD DPhil, Chief Executive Officer and Co-Founder of Arctoris, commented: I am delighted to welcome Professor Mattick and Daniel Thomas to our senior team. Their depth of expertise and experience will enable us to further develop our revolutionary drug discovery platform for customers and partners around the world. I look forward to working closely with them to enhance our novel capabilities and services.

As the former Chief Executive Officer of Genomics England and the former Executive Director of the Garvan Institute of Medical Research in Sydney, Professor Mattick is a leading expert on how the power of technological advances can transform the discovery and delivery of new therapeutic approaches. He has published over 300 research articles and reviews, which have been cited over 64,000 times, and has received numerous awards for his contributions to the field of molecular biology. With this significant scientific and strategic insight, his appointment to the board of Arctoris will support the development of the companys pre-optimised and fully validated research and development processes.

"I am delighted to join the Board of Directors of Arctoris. Its fully automated platform allows access to a wide range of methods and technologies, new levels of reproducibility, and exceptional data capture and integration capabilities that are unavailable elsewhere, which will transform biomedical research and drug discovery," said Professor John Mattick, Member of the Board of Directors, Arctoris.

Daniel Thomas, Head of Discovery Biology, Arctoris, added: Generating high-quality, reproducible data while balancing cost, scale and complexity is a fundamental challenge faced by the global drug discovery community today. Having experienced these pressures first-hand, I am committed to helping our customers and partners by configuring, running and monitoring experiments in real-time through Arctoris fully automated drug discovery platform.

Daniel Thomas joins Arctoris with more than 20 years experience working in early-stage small molecule drug discovery with GlaxoSmithKline. He brings with him an extensive theoretical and practical knowledge of assay development and mechanistic profiling together with an accomplished leadership track record developing trans-national matrix research teams. He also has significant experience in the implementation of transformative technologies and the delivery of key mechanistic data across a broad range of therapeutic areas.

For more information on how Arctoris is transforming drug discovery, please visit http://www.arctoris.com.

About Arctoris Ltd

Arctoris Ltd is an Oxford-based research company that is revolutionising drug discovery for virtual and traditional biotechnology companies, pharmaceutical corporations and academia. Arctoris has established the world's first fully automated drug discovery platform, offering pre-optimised and fully validated R&D processes for its partners and customers globally. Accessible remotely, the platform provides on-demand access to a wide range of biochemical, cell biology and molecular biology assays conducted by robotics, enabling rapid, informed decision-making in basic biology, target validation, toxicology and phenotypic screening. These assay capabilities are accessed using a powerful online portal that streamlines experiment planning, ordering, tracking and data analysis. Thanks to the Arctoris platform, customers can rapidly, accurately and cost-effectively perform their research and advance their drug discovery programmes.

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Arctoris Ltd Strengthens Senior Team to Continue the Development of its On-Demand Drug Discovery Services - BioSpace

Global Live Cell Imaging Market : Industry Analysis and Forecast (2018-2026) – The Market Expedition

Global Live Cell Imaging Marketwas valued at US$ 1.5Bn in 2017 and is expected to reach US$ XX Bn by 2026, at a CAGR of XX% during a forecast period.

Global live cell imaging market is majorly influenced by the growing incidence of chronic diseases and the consistent need for swift diagnostic techniques. Availability of exact and accurate live cell imaging techniques also help in accelerating drug discovery processes and other biotechnology research.

Growth in expenditure and funding for the development of advanced cell imaging is further expected to boost the live cell imaging market in the future. It is also observed that collaborations of market players with research and academic institutions to develop and introduce breakthrough products have recently gained pace. Small players are being increasingly acquired by large incumbents for procurement of breakthrough technologies to secure their stronghold in the market.

Fluorescence recovery after photobleaching is the most commonly used technique for live cell imaging. The technique has found rapid adoption in genetic targeting peptides and appropriately offers a determination of spatial proximity at a protein level that is not possible through fluorescence microscopy. Rapid introduction of FRET systems with an insight to offer better cell imaging techniques will so determine the major market trends.

Cell biology segment is leading the application owing to the increasing number of researchers working on molecular interaction networks. Innovations, for instance, filter techniques and advanced illumination devices further enable the procedure. Cell biologists use live cell imaging to understand the fundamental cellular structures and their interaction on the tissue level. Benefits are clarity of structural components and spatial heterogeneity of a cell offered by live cell imaging are expected to further boost the market.

North America dominated by market share in 2017 closely followed by Europe. Substantial investments and funding available for research in this field is the key driver in the North America region. The growing adoption of live cell imaging by research laboratories and academic institutions, particularly in the U.S. is one of the major factors driving market growth in this region.

One of the recent acquisition in the industry was done in March 2017 by Sartorius who agreed to buy Essen Bioscience in a transaction worth US$ 320Mn. Essen was energetic in developing equipment, reagents, and software.

Nikon Corporation Company has strategic partnerships with research groups to gain professional expertise. They have established imaging centers and offer microscopes, automation, software, and support to various institutes, for instance, Harvard Medical School.

The objective of the report is to present a comprehensive assessment of the market and contains thoughtful insights, facts, historical data, industry-validated market data and projections with a suitable set of assumptions and methodology. The report also helps in understanding Global Live Cell Imaging Market dynamics, structure by identifying and analyzing the market segments and project the global market size.

Further, the report also focuses on the competitive analysis of key players by product, price, financial position, product portfolio, growth strategies, and regional presence. The report also provides PEST analysis, PORTERs analysis, SWOT analysis to address the question of shareholders to prioritizing the efforts and investment in the near future to the emerging segment in the Global Live Cell Imaging Market.

DO INQUIRY BEFORE PURCHASING REPORT HERE:https://www.maximizemarketresearch.com/inquiry-before-buying/28816

Scope of Global Live Cell Imaging Market

Global Live Cell Imaging Market, by Product & Service

Instruments Consumables Software ServicesGlobal Live Cell Imaging Market, by Application

Cell Biology Stem Cells Developmental Biology Drug DiscoverGlobal Live Cell Imaging Market, by End User

Pharmaceutical & Biotechnology Companies Academic & Research Institutes Contract Research OrganizationsGlobal Live Cell Imaging Market, by Region

North America Europe Asia Pacific Middle East and Africa South AmericaKey players operating in Global Live Cell Imaging Market

Danaher Corporation Carl Zeiss AG Nikon Corporation Olympus Corporation Perkinelmer GE Healthcare Bruker Thermo Fisher Scientific Sartorius AG Biotek Instruments Etaluma Cytosmart Technologies Nanoentek

MAJOR TOC OF THE REPORT

Chapter One: Live Cell Imaging Market Overview

Chapter Two: Manufacturers Profiles

Chapter Three: Global Live Cell Imaging Market Competition, by Players

Chapter Four: Global Live Cell Imaging Market Size by Regions

Chapter Five: North America Live Cell Imaging Revenue by Countries

Chapter Six: Europe Live Cell Imaging Revenue by Countries

Chapter Seven: Asia-Pacific Live Cell Imaging Revenue by Countries

Chapter Eight: South America Live Cell Imaging Revenue by Countries

Chapter Nine: Middle East and Africa Revenue Live Cell Imaging by Countries

Chapter Ten: Global Live Cell Imaging Market Segment by Type

Chapter Eleven: Global Live Cell Imaging Market Segment by Application

Chapter Twelve: Global Live Cell Imaging Market Size Forecast (2019-2026)

Browse Full Report with Facts and Figures of Live Cell Imaging Market Report at:https://www.maximizemarketresearch.com/market-report/global-live-cell-imaging-market/28816/

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Is sexual orientation genetic? Yes and no, an extensive study finds – Haaretz

The international group of scientists knew they were setting out to investigate an explosive subject: the hereditary basis of human same-sex behavior. Even so, the members of the prestigious Broad Institute in Cambridge, Massachusetts, may not have anticipated the magnitude of the public furor that erupted when they published their study, which identified several markers in certain genetic loci in the human genome related to same-sex sexual experience. The storm of reactions ranged from those who welcomed something seen as heralding significant progress in the field, to others who maintained that it would have been better if the scientists hadnt published anything.

The research results were published in full in the journal Science, at the end of August. This was the most extensive study of its kind ever conducted (there were about a half a million subjects), in which use was made of the GWAS (genome-wide association studies) method to analyze genetic big data. The researchers discovered five genetic markers (frequent, minor changes in the DNA segments of certain chromosomes) that appeared repeatedly among individuals who reported having had same-sex sexual experiences. Slight and frequent genetic variations were identified in both women and men, two others in men only and one more only in women.

No less important in the study, entitled Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior, is the scientists claim that a large number of genetic markers, perhaps even thousands, might operate simultaneously together although each in and of itself is of minuscule weight and influence ones same-sex orientation. Moreover, their study led the researchers to the conclusion that human genetics can explain up to 32 percent of same-sex sexual behavior.

What is at issue here, however, is not what the study contains but what it does not contain. As Melinda Mills, a sociology professor at Oxford, writes in the same issue of Science, there is no way that the researchers findings can be used as a tool to accurately predict same-sex behavior. Specifically, the fact that genetics can explain up to 32 percent of the fact that someone is gay or lesbian, does not mean that sexual identity is determined primarily by environmental factors not to mention social ones. This story is far more complex and has not yet been fully deciphered. Mills views are shared by Andrea Ganna, one of the chief authors of the new study.

What we basically do is statistical associations between having and not having these genetic markers and having or not having same-sex behavior, Ganna told Haaretz in a phone interview. Because we had this uniquely large study, he continued, which allowed us to have robust conclusions, and because we had the technology to measure the genetic markers of so many individuals, the time was right to confirm something that we expected: There is no one specific gay gene. Instead there are a lot of relatively common genetic markers, genetic mutations, that have a small effect on same-sex behavior.

At the same time, adds Ganna, a geneticist at Harvard Medical School and at Finlands Institute of Molecular Medicine, Not everyone is interpreting the fact that theres no single gay gene in the right way.

Gannas concern is shared by scientists around the world. Theyre worried that the researchers findings will fuel prejudice and discrimination against the LGBTQ community, and even spark calls for genetic engineering and genetic diagnosis among its members. So serious are these apprehensions that some have wondered whether the study would not do more harm than good.

As a queer person and a geneticist, I struggle to understand the motivations behind a genome-wide association study for non-heterosexual behavior, Joseph Vitti, a postdoctoral researcher at the Broad Institute, wrote on its blog, adding, I have yet to see a compelling argument that the potential benefits of this study outweigh its potential harms [T]he results presented not only oversimplify the question of biological causality, but also threaten direct damage by perpetuating the stereotype of LGBTQIA+ people as imprudent, while also likening same-sex attraction to a medical or psychological disorder.

Moreover, a website called The American Conservative posted an article entitled Not Born This Way After All? which wondered, skeptically: If the study proves that homosexuality is related to the environment, above all, and not to heredity why isnt it right and proper, in scientific terms, to allow those who so desire to undergo treatment in order to reduce their same-sex desires, which have now been shown not to be genetic?

That, however, is a simplistic reading of the studys findings. According to Michael Bailey, a professor of psychology at Northwestern University in Illinois, who was not involved in the study but has been conducting research on sexual orientation for 30 years, Its very important to understand that environment does not simply refer to social surroundings, like what your parents teach you and what kids you know, trauma and so on theres also a biological environment that begins right after conception.

Three years ago, Bailey and several colleagues published a survey of all the studies and professional literature in the field. The best studies have shown that genes are probably important but not overwhelmingly important, he tells Haaretz. We estimated in our 2016 review that 30 percent of the variation in sexual orientation is due to genetic variations. It may be this finding that led him to conclude that it is the biological environment that is mostly important. Bailey is convinced that men are born with their sexual orientation and that it is not subsequently acquired at any stage. He notes that there are several cases, I think there are seven throughout the professional literature, in which a baby boy was changed into a girl for medical reasons and was raised as a girl. When you follow these individuals through adulthood, you find that they are attracted to women and not to men.

In Baileys view, the best example of how biological-environmental factors can influence sexual orientation is the fraternal birth order effect. The phenomenon, whose existence is well established, he says, shows that the more older brothers a man has, the more likely he is to be homosexual. In practice, every older biological brother increases the probability that the youngest brother will be gay by about 33 percent. Thus, if the probability that a man with no older brothers will be gay is 2 percent, one older brother will increase the probability to 2.6 percent, and a second, third and fourth brother to 3.5 percent, 4.6 percent and 6 percent, respectively. Whats not yet clear is the reason for this.

In my mind, Bailey suggests, the best hypothesis as to why this happens is that a mothers immune system becomes increasingly active and produces antibodies against male proteins over successive births.

Fingers and hands

Behind this hypothesis is one of the most influential figures in the field, American-Canadian clinical psychologist and sexologist Ray Milton Blanchard. He was also among those who linked the fraternal birth order effect to another phenomenon of interest to scientists: the connection between being left-handed and having a same-sex orientation. The most extensive study in this regard was conducted in 2000, incorporating 20 different studies involving 7,000 gay male and female subjects and 16,000 heterosexual ones. It was found that gay men were 34 percent more likely to be left-handed. The situation was more extreme among lesbians: They were seen to have a 91 percent greater chance than straight women of writing with their left hand.

As a result, six years later, a research team led by Blanchard argued that the fraternal birth-order effect is relevant only among right-handed men. The reason is that, in any case, left-handed men who dont have older brothers already have a greater likelihood of being gay than right-handed men with such siblings.

A persons dominant hand turns out to be significant in another sense as well. An article published two years ago (about a study in which all the subjects had taken part in a gay pride parade in Toronto) found a connection between that hand and the gay persons role in bed: that is, the proportion of left-handed gays who defined their sexual behavior as passive or versatile (i.e., sometimes passive, sometimes not) was significantly higher than among those who described themselves as actives who clearly tended to be right-handed.

In research conducted over the years on the subject of the connection between sexual orientation and other attributes of the body, the hand holds a place of honor. But while Blanchard developed his theory on the basis of the whole hand, sometimes a few fingers are also enough: two, to be exact. In his 1998 study, British biologist John Manning confirmed a relatively old hypothesis, first put forward in Germany almost 150 years ago. Its gist is that the proportion between the length of index and ring fingers is, typically, different in men and women. Manning found that this phenomenon was detectable as early as age 2, which led to the observation that its source lies in the differences in testosterone and estrogen levels that already exist in the womb hereinafter: a biological-environmental factor.

Manning did not emphasize the element of sexual orientation in the two books and over 60 articles he wrote on this subject, but in the two decades that have elapsed since his study, more than 1,400 papers have been written on the ratio between the length of the second and fourth fingers (known as 2D:4D) and the connection between it and the level of risk of contracting certain diseases, as well as personality traits, cognitive and athletic abilities and sexual orientation.

One such study, published in 2010, maintained that straight and lesbian women are differentiated by the ratio between the length of the index and ring fingers, with lesbians tending to show a more masculine ratio i.e., closer to the average difference between the length of the fingers, among men. However, no such differences were found between gay and straight men.

Last year a team of scientists led by a British psychologist measured the fingers of 18 pairs of identical female twins, one lesbian, the other straight. Overall, differences in proportion were documented only in the lesbians and only in their left hand, and were comparable to the situation among men. This fact, the team concluded, could indicate a heightened exposure to testosterone in the womb but their study was based on a very small sample and drew much criticism. The critics charged that the conclusion was based on an overly simple means of measurement: of the way only two variables impacted each other. And, they added to bolster their argument, findings of studies involving those fingers have not been replicated in scientific experiments.

The field of gay science has been on a roll in recent years, but has a far longer history. Its modern phase dates to the early 1990s, when scientists began to publish increasing numbers of studies arguing that sexual orientation has a biological component. A leading scientist in this field is British-American neurobiologist Simon LeVay, who in 1990 performed autopsies on the bodies of 41 people: 19 gay men, 16 straight men and nine women. He discovered that the brain cells known as INAH-3 among the deceased gay men were relatively small, and closer in size to those of women than to heterosexual males.

In 1991, LeVay told Haaretz in a phone conversation, I published a study that got a lot of media attention, related to my observation that there was a region inside the hypothalamus that was different in size between men and women, and also between gay and straight men My additional finding was the difference in size between gay and straight men in this region inside the hypothalamus that is involved in the regulation of sexual behavior.

Adds LeVay, My general feeling is that there are certainly strong biological influences on peoples sexual orientation, but we cant say everything is genetic.

In the spirit of the period, and in light of the AIDS epidemic at the time, LeVay tried to be as cautious as possible about his conclusions. Its important to stress what I didnt find, he said in an interview to Discover magazine, in 1994. I did not prove that homosexuality is genetic, or find a genetic cause for being gay. I didnt show that gay men are born that way, [which is] the most common mistake people make in interpreting my work.

Three decades after publishing his study, he still thinks media coverage is doing an injustice to research even if its not his. Ive seen some headlines saying, basically, that this study [i.e., that of Ganna and his associates] shows its not genetic, or that are no gay genes, or something like that; and, of course, its not what the study shows at all.

Truly gay

In recent decades, scientific research (on men and women alike) in this realm has relied on an additional field: molecular genetics. The pioneer is geneticist Dean Hamer, who in 1993 conducted the first study of its kind.

We noticed that being gay, for males, tended to pass down through the mothers side of the family, he told Haaretz. And that is characteristic in genetics of something on the X chromosome because males get their X chromosomes from their moms That led us to look in families where there were gay brothers, to see if they shared anything on the X chromosome.

And thus, recalls Hamer, he and his team discovered Xq28: a genetic marker that plays a part in determining whether a person will be heterosexual or gay. He emphasizes that this is a factor, its not the factor and actually, overall, its not even the most important factor. He adds, Whats good about genetic studies, is that you know that whatever you find is a causal factor, because of course people are born with their genes, and its not something that changes over time.

LeVay, he explains, is looking directly at the brain, and were looking at what we think is building the brain and genes. Yet, its very difficult to know whether one was born with a brain like that, or whether that brain developed that way because of your behavior the causality is rather unknown.

At the same time, Hamer adds, That doesnt mean there arent specific pathways, because there has to be some sort of a pathway in the brain that controls sexual orientation. We know, for example, that the reason you become a male or a female is very simple: If you have a certain gene on the Y chromosome, you will produce male hormones, and if you have those you make a penis and scrotum and you become male. Accordingly, Theres probably some pathway in the brain that does same thing for sexual orientation, but were not going to discover it from genetics The answer will probably emerge from some sort of very sophisticated brain and developmental studies.

For 35 years, Hamer accumulated experience as a scientist at the National Institutes of Health in Bethesda, Maryland. That period is behind him. He doffed the white coat and now lives in Hawaii, where he makes films. But even if hes no longer occupied with research, it still occupies him.

Hamer: Back in the 1990s, I, along with all the scientists involved, believed that if we did good genetic studies wed find the important genes. For example, well find a gene that is responsible for the production of testosterone, and if its functioning was low, it would be possible to say that this is the cause of homosexuality in a particular person. But it turns out that it doesnt work that way. For every mental trait that has been studied everything you can imagine in the brain, for every single trait, theres a [vast number of] genes not to mention a host of complex societal and environmental factors.

For his part, Hamer has much praise for the Broad Institute study: The new GWAS study is really important, because for the very first time they used a huge sample and they mapped every inch of the genome. And this has never been done before. All the other studies were much smaller, or used many fewer genetic markers. But he also demurs: Whats very important is to look at what they actually analyzed. They didnt analyze people who were gay or lesbian, but anyone who had one single same-sex experience, which is quite different... They were measuring something more like openness to sexual experimentation.

As Hamer sees it, If you look for those five markers, or even just the three strongest markers, they are not necessarily found in people who actually identify as gay or lesbian. If you take people who are gay, like me, and look for those markers theyre not significantly there.

Hamer thinks that the whole field is lagging behind because of insufficient research, owing to the stigmas that plague the subject. I dont think sexuality is any more complicated than many other areas of human personality and individual differences, he observes, noting, We formally established that male sexuality is something that is deeply ingrained in people, its not any sort of choice really. It starts really early in life, and it has a major biological component to it. But, how it works? What the biological component is? Were completely unaware and dont know anything, and we barely know more than we did 25 years ago, or in the 1940s, when Kinsey did his work, to be honest.

Hamer was referring to biologist Alfred Kinsey, who in 1948 stunned the American public with his book, Sexual Behavior in the Human Male, which addressed previously taboo subjects, and challenged the traditional beliefs and existing knowledge about human sexuality. Kinsey had conducted a survey of men, which found that 37 percent of his subjects said they had undergone a homosexual experience of some kind, and 10 percent said they had been exclusively gay for three years of their adult life a statistic which to this day is generally said to represent the proportion of people engaging in same-sex behavior.

At the same time, subsequent studies reveal that the percentage of people who define themselves as exclusively homosexual is far lower, though it fluctuates from one article to the next. For example, a 2011 survey of nine different studies on the subject revealed that approximately 3.5 percent of Americans identify themselves as gays, lesbians or bisexuals. A poll involving 1,000 Jewish Israelis in 2012 found that 11.3 percent of the male respondents and 15.2 percent of the female ones said they felt an attraction to members of the same sex. However, only 8.2 percent of the men categorized themselves as gay or bisexual, while 4.8 percent of the women said they were lesbian or bisexual.

For his part, Ganna, of the Broad Institute, understands some of the criticism of his research. What we studied is not related directly to the biology, but to extended environmental factors related to it. Its not about our sample size once you have a lot of individuals, you can capture very small effects. But are these directly influencing same-sex behavior, or other things related to this topic? As a medical example, think about a study that looks for associations between genetic markers and lung cancer. In that example, what we found are genetic variants regarding how much you smoke, which is related to lung cancer.

One of the lessons, and one of the most interesting points arising from the study has to do, says Ganna, with the mode of measurement that had been in use since 1948, when Kinseys scale ranked individuals as being between 0 (totally heterosexual) and 6 (totally homosexual).

Ganna: Basically, the tendency is to locate individuals on a continuum. You can supposedly be anywhere between 100 percent heterosexual to 100 percent homosexual, which implies that the more youre homosexual, the less youre heterosexual, and vice versa. We show that this assumption actually doesnt hold water: When we look at the genetic data, its not that straightforward, theres no simple continuum of sexuality.

So, actually, you are refuting the Kinsey scale?

Ganna: Thats exactly one of our conclusions. What were now doing is, rather than asking people to put themselves on a scale somewhere between being exclusively heterosexual or exclusively homosexual, we ask them how much theyre attracted to men and women. You could be attracted to either of them, very attracted to both of them or to one more than the other. And that information will be crossmatched with genetic markers.

In the final analysis, he adds, We showed that this is just another natural human variation. Sexual orientation, similar to many other behavioral traits, is complicated and is composed of different factors. The interesting thing is how genetics and environment work together. If you think about how much more prevalent same-sex behavior has become lately, people engage in it more than in the past. And thats clearly not because our genetics are changing. Its because of the environment, because society is becoming more open and laws are changing.

Further research should focus on the relationship between environmental factors and genetics, Ganna says, and on how they interact. Its somewhat misleading to think of nature and nurture as separate aspects; they both contribute. So, it would be wrong to say that you can use only DNA to predict if someone will engage in same-sex behavior, but you also cant say its simply a [matter of] choice.

In summary, he says, I think that the more people who will understand that there are genetic and environmental components to sexual behavior, the better and this is a message that goes beyond just sexuality.

Choice and lifestyle

However, the relationship between science and the environment, and particularly the people living in it, is a complicated one. The subject definitely should be studied, but the social aspect of it is problematic, says LeVay, the neurobiologist. I am gay myself, and I feel strongly that gay people should be valued and accepted into society, regardless of what caused their sexual orientation. I dont think its vital for gay liberation to prove that gay people cant help but be gay there are plenty of other reasons [for accepting them], including basic human rights.

At the same time, he adds, this issue is socially relevant, because of traditional notions that see same-sex relations as a choice, a lifestyle or sinful behavior.

In recent years, there have been many studies showing that peoples attitudes toward homosexuality are closely tied to their beliefs about what makes people gay, says LeVay, citing a survey that showed there was a high probability that people who think homosexuality is a choice will object to a gay person being their childrens teacher which in a way might make sense, he adds: If you think being gay is something infectious, socially contagious, and you didnt want your kid to be gay, then you wouldnt want their teacher to be gay ... It follows that demonstrating that biological factors are involved, helps counter those ideas. Still, Im a bit ambivalent about the use of this type of research as some sort of a political weapon in the struggle for gay rights.

The Broad Institute study contains a reminder of the problems and stigmas that still exist with regard to the LGBTQ community. One of the parameters it considers are genetic correlations between genes that are ascribed to homosexuality, and certain psychological problems.

Bailey, the psychologist: One thing that was perceived as controversial, was to look for and find a genetic overlap between homosexual sex genes and genes associated with depression. Its not the same as saying all people who engage in homosexual sex are depressed for genetic reasons, but its also not something that can be easily ignored. There are assumptions that the higher rates of depression among gay men and lesbians is due to the way they are mistreated by society, but the evidence for that is not so overwhelming. There is also the fact, for example, that you have as high a rate of depression among homosexual men in the Netherlands, which is very tolerant, as you have in some less tolerant places, like the United States.

Ganna, for his part, tries to soften that criticism: Even if we see genetic overlap, or correlation, it is not set in stone that weve found a biological mechanism that causes depression and same-sex behavior, he says. There are many explanations for why this one genetic marker is associated with both things. But finding these correlations help us study human traits in general.

In the meantime, there is a price to be paid for conducting research in this realm, which all those involved must be aware of. Reminders of this abound, and are almost routine. In some cases whats at stake is not even a groundbreaking study or one of tremendous scientific importance. In 2017, for example, two researchers from Stanford published an article stating that gay men are predicted to have smaller jaws and chins, slimmer eyebrows, longer noses, and larger foreheads; the opposite should be true for lesbians. In the next stage, they created a facial-recognition program with the aid of more than 14,000 images taken from a singles site of straights and LGBTQs. The program was able to distinguish between gays and lesbians and heterosexuals with an accuracy of 81 percent for men and 71 percent for women, in contrast to an average rate of successful human guesses of 61 percent and 54 percent, respectively. Even though the program achieved relatively impressive results, the study as such drew widespread criticism not unusual for researchers engaged in such studies.

The Stanford gays identification program may be an extreme example, in this respect, but its also a byproduct of the considerable surge in studies in this field, a trend that began in the early 1990s. Together with the scientific community, media interest in the subject of same-sex orientation and its causes has contributed substantially to transmitting messages and shaping public opinion.

In the United States, this can be seen in a series of polls conducted by Gallup, Inc. The first one, conducted in 1977, found that only 13 percent of the respondents believed that homosexuality is an innate tendency, while 56 percent attributed it to environmental factors. This approach remained largely constant until the period between 1989 and 1996, when the rate of those supporting the innate thesis leaped from 19 percent to 31 percent; by 2001, it stood at 40 percent. Almost a decade and a half later, the annual poll produced, for the first time, a larger proportion who agreed with the innate argument. The latest survey, from the end of last year, showed this trend continuing: More than half of the American public believes that gay people are born with their sexual orientation, whereas only 30 percent attribute it to environmental factors (10 percent said both factors play a part, 4 percent cited other factors and 6 percent said they werent sure).

Changes in the perceptions of the origins of sexual orientation are having a pronounced effect on the struggle LGBTQ individuals are waging for equal rights. The latest Gallup poll shows that an absolutely majority (88 percent) of those who believe that homosexuality is an innate trait also support legitimizing same-sex marriages. In contrast, most of those who see this orientation as being environmentally driven (61 percent) are against.

When it comes to public opinion, which is very important, the born this way idea has been really resonant and has had a very positive impact on society, Hamer maintains. Public opinion polls asked people whether they think [gays] were born this way or not, and we know that believing that homosexuality is innate correlates with having positive feelings toward gay rights. Overall, its been important in educating the public about who we are, as gay people.

Such messages are reaching Israel as well. A poll conducted by the Dialog Institute for Haaretz at the end of 2013 found that 70 percent of those questioned favored full rights for same-sex couples, while 64 percent specifically backed their right to surrogacy. However, two polls conducted in the wake of the surrogacy law protest in July 2018 presented slightly lower numbers: About 57 percent of respondents expressed support for the right of same-sex male couples to surrogacy.

These polls did not ask Israelis whether they believe the origin of same-sex orientation is innate or environmental. If you ask Bailey, though, that doesnt really matter.

Ive gone to great lengths to try to persuade people not to base equal rights for gay people on the causal hypothesis, he says. Its a terrible idea to say gay people should have equal rights because they were born that way. Its terrible in part because some criminals might be born that way, and you dont want to them to have the same rights. Being gay doesnt harm anybody, other than people who are close-minded and easily offended. Preventing people from expressing their homosexuality is quite destructive for them. Thats true whether gay people are born that way or not.

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Is sexual orientation genetic? Yes and no, an extensive study finds - Haaretz

Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. – Forbes

I just attended theNational Society of Genetic Counselors Annual Meetingin Salt Lake City, UT where I met some of the brightest minds in genetics, heard about mind-bending new technologies, and was reminded of the many ways that genetic counseling and testing is improving health, transforming lives, and driving precision medicine forward.

With that bright promise freshly in mind, several recent stories have cast a stark reminder of the ways genetic testing can, andis,being used nefariously.I published an article on this topicjust a few short weeks ago and didnt foresee that it would need a part II so soon. Consider the following:

The Trump administration already announced that they would require DNA samples from asylum-seekers at the Mexican border for rapid DNA testing to confirm family relationships.In a move called transparently xenophobic in its intention, the Trump Administration now plans to collect DNA from individuals in federal immigration custody and add those samples to the national FBI crime database.

MIAMI : A judges gavel rests on top of a desk (Photo by Joe Raedle/Getty Images)

A Judge in the Floridas Ninth Judicial Circuit Court signed a warrant allowing a detective to successfully obtain a warrant to search GEDMatchs genetic database,even for users who opted out of appearing in police search results.This decision brings into question whether larger databases, like those of 23andMe and Ancestry, are subject to the same sort of warrants, despite their privacy policies.23andMe does not believe that this decision impacts them, but that remains to be seen.However, it is possible that any privacy policyis only as strong as a police departments ability to get a willing judge to sign a search warrant.

NEW YORK, NY - JUNE 20: (Photo by Santiago Felipe/Getty Images)

A recent genetic study on homosexualityraised eyebrows for many reasons, including that it appeared that homosexuality was being positioned as a condition or worse yet a disease to study and understand.An informativeDNA Exchange blogpost by certified genetic counselor Austin McKittrickeloquently outlined the issues, including that the study utilized data from the UK Biobank and 23andMe.Consumers consenting to 23andMe research studies may falsely believe that their data are being used only to further critical health care problems, like finding a treatment for Parkinsons disease, rather than for research that could potentially lead to discrimination or stigmatization of groups of people.Within days of this research being published an app called GenePlaza was developedthat, for about $5, could tell you how gay you are.Can you imagine this app being used at a middle school slumber party, with results posted to social media?But worse yet, the apps developer is based in Uganda,a country that announced plans that it would make homosexuality punishable by the death penalty.

Now, for just a moment, think about these three developments in unison.Our government is requiring DNA collection for immigrants in custody and those samples will enter our federal crime databases.Large databases, even for consumer entertainment, are subject to search warrant.Genetic data are being collected and used to make associations (accurate, or not) to a trait that may be punishable by death in some countries.

If we have been waiting for a sign thatwe need federal, or international, protections for genetic data and how it can be used, we now have that sign.

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Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. - Forbes

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

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

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

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

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

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

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

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

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

--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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