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Alameda County Superior Court Judge Jo-Lynne Q. Lee set a hearing on nationally recognized plaintiffs firm Maune Raichle French Hartley & Mudd. LLCs motion for protective order in a pending asbestos case in which the defendants experts wanted to perform genetic testing. The case is John Lohmann and Suzanne Lohmann v. Aaon, Inc., et al. Alameda County Superior Court Case No. RG21098862. In this case, the plaintiffs filed their action in May 2021 in Alameda County against several defendants alleging that Mr. Lohmann contracted mesothelioma occupationally during his career as a refrigeration equipment mechanic beginning in the early 1970s largely in California.

After appearing in the action, the defendants retained pathology experts who wanted to use Mr. Lohmanns medical data for non-litigation purposes without Mr. Lohmanns permission, because the experts believed that the information would advance science. To conduct this testing, counsel for designated defense counsel moved for discovery of Mr. Lohmanns original cytology/pathology slides and paraffin blocks and subpoenaed his health care providers. The court ordered production of those original materials. According to the plaintiffs counsel, production of Mr. Lohmanns pathology and genetic material during litigation does not thereby permit outside, personal research and analysis. Multiple defendants disagreed, however, and contend that evidence produced during litigation enters the public domain and is thereafter not protected by discovery law.

As a result, on January 7, 2022 the plaintiffs filed for a protective order under California Code of Civil Procedure 2025.420, arguing that they never discussed with defense counsel the terms by which Mr. Lohmanns pathology material was to be used. The plaintiffs asked Alameda County Superior Court to block defendants from compiling medical data for the benefit of a third partys medical database or research project. Defendants, in their written opposition and during oral argument, contend that there is no authority barring medical research on data derived during litigation. Defendants also contend that the plaintiffs are incorrectly relying on Californias discovery statutes, which only govern how the evidence is obtained, not how it can be used. Defendants also argue that research evidence derived from litigation is relevant not only for diagnosis, treatment, and cause, but also helps determine the plaintiffs damages. For example, the defendants cite to scientific research showing that patients with the BAP-1 mesothelioma marker respond better to treatment and tend to have longer life expectancies than those patients without this marker. Defendants wish to present this evidence to the jury as they decide Mr. Lohmanns claim for future medical costs and damages for shortened life expectancy.

Up until last year, defendants and the plaintiffs in Alameda County operated under an informal discovery agreement regarding a plaintiffs pathology materials. However, with more and more defense experts looking to see if a plaintiff, like Mr. Lohmann, had the BAP-1 mesothelioma marker, the Maune firm revoked this informal agreement citing privacy and concerns over genetic testing of their clients materials. Their concerns were largely centered on the actions of longtime defense pathology expert, Dr. Victor Roggli, who published an article in 2020 describing an individual previously represented by the Maune firm.[1] According to the Maune firm, Dr. Rogglis use of their clients medical data in his non-litigation research was improper. In regard to the testing for BAP-1 in particular, the plaintiffs in Lohmann are attempting to block it arguing that it has questionable value in a mesothelioma case. The plaintiffs imply in their motion that the defendants are hoping to use published research linking BAP-1 mutations and certain asbestos exposures in litigation.

It is now up to Alameda County Superior Court to decide whether these defendants and the Dr. Rogglis of the world can, legally under the Discovery Act, use a plaintiffs medical data for their own non-litigation purposes without first obtaining the plaintiffs permission. The Court has requested additional briefing from the parties on this subject before it will make this determination. Defendants are urging the Court to retain an independent expert to examine this issue.

For the Lohmann case, the hearing on the plaintiffs protective order did not go forward after the Defendants stipulated that none of their experts intended to use any of Mr. Lohmanns medical information outside of litigation.

So, for now at least, this issue has been tabled until the next case. But, if and when Alameda County does make a ruling on this issue, its decision will have a significant impact on genetic defenses for mesothelioma cases in California and, likely, elsewhere in the nation as well. The courts eventual opinion will decide whether asbestos defendants can use a plaintiffs medical data in third-party research that could potentially help gather information useful to defendants defenses to damages claims in future asbestos cases.

[1] Mujahed T, Tazelaar HD, Sukov WR, Halling KC, Davila JI, Glass C, Pavlisko EN, Strickland KC, Roggli V, Haque M, Mneimneh W, Carter E, Galateau-Salle F, Glidden D, Garcia-Kennedy R, Larsen BT. Malignant Peritoneal Mesothelioma Arising in Young Adults With Long-standing Indwelling Intra-abdominal Shunt Catheters. Am J Surg Pathol. 2021 Feb 1;45(2):255-262. doi: 10.1097/PAS.0000000000001574. PMID: 32826527.

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Alameda County Awaits Key Decision Regarding The Use of Genetic Testing in Asbestos Cases - JD Supra

The lack of diversity in genomic research could mean Africans are missing out on potential life-changing care for chronic health disorders, according to a new study published inNature Medicine.

Genetic risk scores are a tool used to estimate an individuals risk of developing a disease, based on genetic factors. Researchers are able to find out someones genetic risk score by examining a populations genetic data and linking genetic factors to various health outcomes to indicate how likely they are to experience certain conditions.

These genetic risk scores are thought to revolutionise medicine by making it possible for people to receive treatments in line with their genetic make up, as well as for early identification and prevention of diseases. However, due to the small numbers of genetic studies involving African people, there is not currently enough information to create accurate genetic risk scores to predict their vulnerability to illnesses such as heart diseases.

The study, led by researchers from theMRC/UVRI and the London School of Hygiene & Tropical Medicine (LSHTM) Uganda Research Unit in collaboration with those from the University of Witwatersrand in South Africa, used genetic data from 1.4 million people of diverse ancestry across sub-Saharan Africa to examine how the use of diverse and representative data can impact our ability to predict disease risk.

The team found that when genetic data from the African American population was included in genomic studies, the genetic risk score estimates were five times more accurate for people with African ancestry, compared to when data from European ancestry was used.

African Americans only comprise 1.1% of global genomic studies. These findings emphasise the importance of including Africans genetic information in genomic studies in order to gain more accurate information about genetic risk factors for disease, and better control the growing trend of chronic health disorders in Africa.

Segun Fatumo, Associate Professor of Genetic Epidemiology & Bioinformaticsat theMRC/UVRI and LSHTM Uganda Research Unit said: "Currently, genomic studies include primarily individuals with European ancestry. This means genetic risk scores in predicting risk of disease, while applicable to the European population, is not accurate or reliable for those of African ancestry. It is crucial that we address this lack of diversity in genomic data. More genomic research is required to produce genetic risk scores that are relevant and representative of the genetic diversity in African populations due to age, lifestyle, environment, and other genetic factors."

Researchers used data from Uganda and South Africa to gather genetic information using genetic risk scores to identify people within continental African populations with high and low fat levels. Their findings identified a number of inherent features in African populations, including that the genetic risk scores were more accurate for people living in urban settings in South Africa than for those in Uganda, due to differences in age, lifestyles, environments and genetics.

Additionally, by including well-known risk factors, such as age, gender, body mass index (BMI) and type 2 diabetes in the estimation of genetic risk scores, the classification of people with either high or low risks improved by 42%.

This was in contrast to conventional risk factors reported in European-based studies such as age, gender, and body mass index as significant contributors to identifying people with high and low fat levels. These findings also demonstrate that a standard genetic risk score cannot be applied across different ethnicities and nations in Africa due to genetic variability and other factors which affect risk such as age, lifestyle and environment.

The team also divided the population into three categories to indicate whether they have a low, medium or high risk of developing a disease. This could help clinicians and genetic specialists to evaluate an individuals risk of disease, especially those at high risk of developing chronic diseases.

Early diagnosis and treatment is one of the best ways to reduce the chances of developing chronic diseases such as heart and blood vessel disorders. The lack of diversity in genetic studies, and those that include African people in particular, has slowed progress in calculating individuals susceptibility to illnesses, which in turn slows their path to diagnosis and treatment.

Although genetic risk scores are not extensively used by health professionals at the moment, the researchers believe these findings provide hope for enhancing clinical care in Africa. Knowing how likely an individual is to get a disease could help them take preventative steps to diagnose it earlier, when it is easier to treat, or even cure. According to the researchers, this is crucial for detecting those who are at risk of having high levels of body fat in the future.

Dr. Tinashe Chikowore, from the University of the Witwatersrand and an author of this study, said: "Advocating for greater diversity in genetic studies will guarantee that Africa is not left out of future precision medicine initiatives, which are crucial in identifying people who are more or less susceptible to contract chronic infections."

Reference:KamizaAB, Toure SM, Vujkovic M, et al. Transferability of genetic risk scores in African populations. Nat Med. 2022. doi: 10.1038/s41591-022-01835-x

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Diversity in Genetic Research Is Key to Enhancing Treatment of Chronic Diseases in Africa - Technology Networks

Colorado State University researchers are partnering with the American Hereford Association to support cattle producers and the beef industry in finding sustainable solutions to environmental and economic challenges.

The new research aims to enhance understanding of genetic differences in seedstock relative to enteric methane production and nitrogen excretion while identifying selection tools that can help reduce beef's carbon and environmental footprint.

"We're excited to begin this cooperative research agreement with Colorado State University,"says Jack Ward, executive vice president of the American Hereford Association, one of the largest beef breed associations in the United States. "It leverages decades of research and data collected by AHA members aimed at characterizing genetics associated with production efficiency, which plays a key role in environmental and economic sustainability."

Environmental and economic challengesDirect emissions from the animal agriculture sector account for 3.8% of U.S. greenhouse gas emissions, according to the Environmental Protection Agency. Enteric methane accounts for approximately 27% of methane emissions in the U.S.

Methane emission, as a genetic trait in cattle, appears to be moderately heritable with genetic correlations to economically relevant production traits, such as measures of growth, dry matter intake and various estimates of feed efficiency.

Worldwide attention is also focusing more intently on nitrogen a byproduct of rumen fermentation. Previous research suggests genetics play a significant role in nitrogen excretion by cattle, and when selected for, an individual animal's environmental footprint can be reduced.

"We know genetic improvement of our industry is driven by gains made in the seedstock sector. One only needs to look at changes in carcass meat yield and quality over the last two decades to realize the potential for improvements in seedstock genetics to transform the entire beef industry,"says Animal Sciences Professor Mark Enns, a beef cattle geneticist and key member of the research team.

Sustainable solutions"Often, we hear criticism leveled at the beef industry regarding greenhouse gas emissions and the impact of cattle on the environment, but with little context,"Enns says. "Cattle also sequester carbon and contribute to environmental health. This project will contribute to the beef cattle industry's goal of demonstrating carbon neutrality by 2040."

Given the Hereford breed's inherent genetic advantages associated with production efficiency, Ward says documenting the relationship between traits associated with efficiency and greenhouse gas emissions is logical next step for the breed and the industry.

"Beef industry stakeholders including the National Cattlemen's Beef Association have committed to improving the environmental impact of U.S. cattle production. This project aims to develop a selection tool for the American Hereford Association and the broader cattle industry that helps producers identify genetics that will have reduced greenhouse gas emissions without sacrificing animal productivity,"says Kim Stackhouse-Lawson, director of CSU AgNext, a pioneering research collaborative developing sustainable solutions for animal agriculture.

By leveraging existing animal performance data and monitoring animal emissions, Stackhouse-Lawson explains the goal is to identify genetic traits that influence environmental emissions from individual animals and then develop selection indices that can be used to reduce the environmental impact of cattle, while maintaining, and ideally improving economic returns to producers.

"This project will also position the American Hereford Association as a sustainability leader in the beef industry through the development of genetic selection tools that can identify and inform breeders of genetics that meet climate goals without sacrificing quality, performanceand efficiency," says Stackhouse-Lawson.

Further, Enns notes the project has potential to pave new paths of revenue for cattle producers. These could include such things as verified sustainable production claims, in addition to commonly discussed carbon credits.

Supporting the beef industryThe U.S. beef cattle industry has a long history of demonstrating extraordinary gains in efficiency over time, using genetics, technology and management to produce more beef with fewer cows and less land.

"This research will help us identify ways to magnify the gains the industry has already achieved," Ward says.

"CSU is involved in this project because we are passionate about beef production and the beef industry, and the societal benefits it brings from the upcycling of human-inedible plant materials and byproducts into high-quality protein,"Enns says. "From a genetic improvement standpoint, CSU has a long history of new trait development and delivery of selection tools to the industry. As such, we feel we have much to contribute in this realm, striving to produce cattle that meet consumer demands, yet have a smaller environmental footprint."

Source: Colorado State University, whichis solely responsible for the information provided, and wholly owns the information. Informa Business Media and all its subsidiaries are not responsiblefor any of the contentcontained in this information asset.

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CSU partners with American Hereford Association on genetics research - Beef Magazine

A new study adds to our understanding of polar bears and brown bears' linked evolutionary histories.

Scientists have known this for a while, but the current study used a larger dataset to eke out additional detail, including DNA from an old polar bear tooth.

(Photo : HENNING BAGGER/Ritzau Scanpix/AFP via Getty Images)

The fact that these creatures were separated into different species did not prevent them from mating, as per ScienceDaily.

This has been known for some time, but the current study uses a larger dataset, including DNA from an old polar bear tooth, to elucidate the details.

The result that emerged is riddled with difficulties akin to those that have plagued human progress.

According to Charlotte Lindqvist, Ph.D., a specialist in bear genetics and associate professor of biological sciences at the University at Buffalo College of Arts and Sciences, the establishment and maintenance of species may be a chaotic process.

What's going on with polar bears and brown bears is a good analogy for what we're learning about human evolution: species separation may be imperfect.

They're witnessing multidimensional genomic mixing as diverse groups of archaic humans married with descendants of contemporary humans as more old genomes from historical population groups, particularly Neanderthals and Denisovans, have been discovered.

Another system in which this occurs is between polar bears and brown bears.

They discovered evidence of polar bear-brown bear interbreeding that preceded the study of an ancient polar bear, Lindqvist said.

Furthermore, the findings revealed a complex, entangled evolutionary history between brown and polar bears, with gene flow mostly from brown bears to polar bears.

According to the lead author, scientists previously believed that modern humans and Neanderthals evolved from a shared ancestor, and then divided into different species.

Then, she explained, researchers discovered Neanderthal DNA in current Eurasian individuals, showing that modern human groups got an influx of Neanderthal genes at some point during their common evolutionary history.

Lindqvist added that it was only afterward that scientists realized that this genetic intermingling had also enriched Neanderthal populations with current human DNA.

Interbreeding, she noted, may be complicated and not always a one-way track.

Also Read:Consequences of Climate Change: Polar Bear Population Shrinking Due to Arctic Sea Ice Melt

(Photo : JEAN CHRISTOPHE VERHAEGEN/AFP via Getty Images)

The polar bear has long been assumed to have arisen lately from its lower-latitude sister species, the brown bear, based on fossil and mitochondrial DNA data, as per the study "Polar and brown bear genomes reveal ancient admixture and demographic footprints of past climate change," that was published in the journal Proceedings of the National Academy of Sciences of the United States (PNAS).

Full mitochondrial generation sequencing, for example, has suggested a 150-kya split in these species' maternal lineages and affirmed a notably special connection between the polar bear and a hereditarily secluded population of brown bears from Alaska's Alexander Archipelago's Admiralty, Baranof, and Chichagof Islands.

A new, higher comprehensive genome for a polar bear that lived 115,000 to 130,000 years ago in Norway's Svalbard island was also created by the scientists.

The ancient polar bear's DNA was recovered from a tooth belonging to a subfossil jawbone presently kept at the University of Oslo's Natural History Museum.

Researchers predicted that polar bears and brown bears split into separate species around 1.3 to 1.6 million years ago, revising previous estimates by some of the same experts.

The age of the divide has been and continues to be a source of discussion among scientists, with historical interbreeding and a lack of fossil evidence for old polar bears among the variables that make the dating difficult to pin down, according to Lindqvist.

Related article:'Highly-Predatory' Brown Bear Killed 28 Newborn Reindeers After Waking From Hibernation

2022 NatureWorldNews.com All rights reserved. Do not reproduce without permission.

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Unraveling the Tangled History of Polar Bears to Brown Bears Using Genetic Sequencing - Nature World News

ATTR-CM (transthyretin amyloid cardiomyopathy) is a rare heart condition that can lead to heart failure. However, with an early and accurate diagnosis, ATTR-CM is often treatable.

One big question that patients have is what caused this disease? As with many serious health issues, sometimes its hard to pinpoint exactly, but usually this disease is caused by your type of lifestyle/diet, genetics, or a mix of both.

Whether you have been diagnosed early or very late in the game with this condition, changing your lifestyle habits is crucial to extending how long you can live with this type of heart disease, especially when your heart becomes too weak to effectively pump blood throughout the body.

Because ATTR-CM is often misdiagnosed or diagnosed long after symptoms first appear, it has been difficult to establish a reliable life expectancy for the condition if it is diagnosed and treated early in the disease progression.

ATTR cardiomyopathy is, unfortunately, an under-diagnosed condition, says New York cardiologist Aeshita Dwivedi, MD, who adds that greater awareness of ATTR-CM is leading to more diagnoses, which is also resulting in people starting treatment earlier in the disease process.

Some of what you will need to know can be learned by participating in a cardiac rehabilitation program. If you have been diagnosed with ATTR-CM ask your doctor about prescribing you rehab to learn about diet, exercise, medication adherence and other aspects of living with a heart condition.

Related: How Lifestyle Changes Can Help With Managing Heart Failure

Dr. Dwivedi explains that when confronted with the signs of ATTR-CM, like those of heart failure, its essential that you begin working closely with your cardiologist and follow the doctors advice about medication, checkups, lifestyle, and give thoughtful consideration to discussions of procedures, such as having a pacemaker or pump implanted.

Getting Diagnosed with ATTR-CM

Number one would be to see your doctor regularly, Dr. Dwivedi says. It is important to seek medical care for this condition, because we have good options and can change lives. Second would be talk to your doctor if any of your symptoms change. You would rather know sooner rather than later, before things get worse and when you may need hospitalization.

Related: What is the Heart Condition, ATTR-CM? What are the Symptoms?

She also recommends shifting to a heart-healthy diet that includes limited sodium intake and fats. This diet will help you achieve and maintain a healthy weight. Exercise is also important, though your capacity for physical activity will be limited. Be sure to discuss your exercise limits and concerns with your doctor or a cardiac rehab specialist.

Getting your steps in for the day and doing moderate activities very important, Dr. Dwivedi says. If exercise is new to you and you are unsure where to start, reach out to your doctor for a supervised exercise program for you to get comfortable being active.

In general, people with a family history of heart disease or other conditions should be extra vigilant for symptoms of ATTR-CM, which include those associated with heart failure, including:

There are two types of ATTR-CM:

Males are at higher risk than females for both types of ATTR-CM. And while hereditary ATTR-CM may present with symptoms at a young age, older adults are generally at higher risk for both types.

Bottom line, regardless of how you got to this point, what matters is that your condition has been accurately assessed, and you are in the care of a doctor who can try to help you achieve the best case scenario situation while living with ATTR-CM.

Contributing by SurvivorNet staff.

Learn more about SurvivorNet's rigorous medical review process.

ATTR-CM (transthyretin amyloid cardiomyopathy) is a rare heart condition that can lead to heart failure. However, with an early and accurate diagnosis, ATTR-CM is often treatable.

One big question that patients have is what caused this disease? As with many serious health issues, sometimes its hard to pinpoint exactly, but usually this disease is caused by your type of lifestyle/diet, genetics, or a mix of both.

Because ATTR-CM is often misdiagnosed or diagnosed long after symptoms first appear, it has been difficult to establish a reliable life expectancy for the condition if it is diagnosed and treated early in the disease progression.

ATTR cardiomyopathy is, unfortunately, an under-diagnosed condition, says New York cardiologist Aeshita Dwivedi, MD, who adds that greater awareness of ATTR-CM is leading to more diagnoses, which is also resulting in people starting treatment earlier in the disease process.

Some of what you will need to know can be learned by participating in a cardiac rehabilitation program. If you have been diagnosed with ATTR-CM ask your doctor about prescribing you rehab to learn about diet, exercise, medication adherence and other aspects of living with a heart condition.

Related: How Lifestyle Changes Can Help With Managing Heart Failure

Dr. Dwivedi explains that when confronted with the signs of ATTR-CM, like those of heart failure, its essential that you begin working closely with your cardiologist and follow the doctors advice about medication, checkups, lifestyle, and give thoughtful consideration to discussions of procedures, such as having a pacemaker or pump implanted.

Getting Diagnosed with ATTR-CM

Number one would be to see your doctor regularly, Dr. Dwivedi says. It is important to seek medical care for this condition, because we have good options and can change lives. Second would be talk to your doctor if any of your symptoms change. You would rather know sooner rather than later, before things get worse and when you may need hospitalization.

Related: What is the Heart Condition, ATTR-CM? What are the Symptoms?

She also recommends shifting to a heart-healthy diet that includes limited sodium intake and fats. This diet will help you achieve and maintain a healthy weight. Exercise is also important, though your capacity for physical activity will be limited. Be sure to discuss your exercise limits and concerns with your doctor or a cardiac rehab specialist.

Getting your steps in for the day and doing moderate activities very important, Dr. Dwivedi says. If exercise is new to you and you are unsure where to start, reach out to your doctor for a supervised exercise program for you to get comfortable being active.

In general, people with a family history of heart disease or other conditions should be extra vigilant for symptoms of ATTR-CM, which include those associated with heart failure, including:

There are two types of ATTR-CM:

Males are at higher risk than females for both types of ATTR-CM. And while hereditary ATTR-CM may present with symptoms at a young age, older adults are generally at higher risk for both types.

Bottom line, regardless of how you got to this point, what matters is that your condition has been accurately assessed, and you are in the care of a doctor who can try to help you achieve the best case scenario situation while living with ATTR-CM.

Contributing by SurvivorNet staff.

Learn more about SurvivorNet's rigorous medical review process.

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Did My Lifestyle or Genetics Cause ATTR-CM? Learning More About This Heart Condition That Often Goes Misdiagnosed - SurvivorNet

Conceiving a child is like playing the lottery. Given any two parents, there are 70 trillion possible genetic combinations that any one of their children could inherit.

This genetic diversity can make siblings really different from one another, for instance, in terms of their education, income, and lifespan.

Any attempt to study or address inequality in society must consider the impact of genetic inequality.

PAIGE HARDEN: Conceiving a child is like a giant Powerball. If we think about any two parents, there are 70 trillion possible genetic combinations that any one of their children could inherit. So siblings are really different from one another, in their education, in their income, even lifespan. And genetics is part of the reason why. But to study things like genetics in relation to education or intelligence or personality, has long been a really controversial area of research. For many people, the idea of genetic differences between us is hard to reconcile with what they think of as equality.But if we care about inequality that is tied to accidents of people's birth, the kind of stroke of luck over which they have no control, then we should care about genetic inequality, because it is one of the major sources of inequality in this country.

My name is Paige Harden. I'm a professor of psychology at the University of Texas at Austin. And I recently wrote a book called "The Genetic Lottery: Why DNA Matters for Social Equality."

I think what a lot of people don't realize is that all humans are over 99% genetically the same, regardless of their racial group. Even those differences don't fall along racial lines. So most of our DNA we have in common. That remaining less than 1%, however, is really scientifically interesting, because many of the psychological, behavioral, physical differences between us are related to that tiny fraction of our genome that differs between us. How can we figure out which genetic variants are associated with some of the psychological differences that we care about? Your risk for schizophrenia, your risk for depression, how far you go in school. I think a big part of the power of genetics is as a tool to help us understand the environment.

What are the social environments, the school contexts, the parenting environments that can turn on or turn off genetic risk? So if I'm at genetic risk for doing poorly in school, is there something about the school environment that can buffer me against that risk, such that I still go on to do well in my math class, such that I still go on to do well in college? So we're interested in bringing together the biological differences but also an understanding of the environment to see how they combine to shape children's lives.

This work, connecting genetics to things like education, continues to be controversial because people fear 'eugenics.' And that's the idea that genetic differences underlie some natural hierarchy of value, and that genetic information should be used to sort of slot people into their place or station in life. White supremacist groups will be eager consumers of genetic research in order to justify their narratives around biological hierarchy. But if scientists that have egalitarian values avoid the topic, then the only people who are consuming it and talking about what it means are these ideological extremes.

The predominant response to the eugenic perspective has been what I call 'Genome-blindness.' And that's really the idea that we should avoid talking about biological or genetic differences between people. The fear is that if something's genetic, it's natural and there's nothing we can do about it. So let's not talk about genetics lest people give up on the idea of changing social policy. And that doesn't bear out under the science. Things can be influenced by genetics, but still responsive to the environment. A great example is if you wear eyeglasses.

That's something that is genetically-caused, that we fix not by CRISPRing your genome or selecting your embryo, but by giving you an environmental intervention that you wear on your face. So, I think we can think of the antidote to eugenics not being genome-blindness, but being 'anti-eugenics.' There's a really great example of anti-eugenic policy in the United States, and that's the Americans with Disabilities Act.

If you go into an ADA compliant building, there has to be an elevator there. What's being equalized is not their functioning, so someone might still not be able to walk, they might still be in a wheelchair. What's being equalized is their ability to participate with dignity in a public space. In order to accomplish that, you actually have to recognize differences between people. What if we took that anti-eugenic disability justice perspective when we're crafting policies?

I am an egalitarian.I think of social inequality as a moral and political problem to be fixed. But at the same time, I think that biological differences between us are real and make a difference for our lives. I'm out here saying, 'Science doesn't neatly fit into ideology.' What we need to do is think about what our values are, what does the science say, and then take both of those things seriously when we're crafting policies.

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Your genes affect your education. Here's why that's controversial. - Big Think

Scientists from the United Kingdom have analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment

By LAURA UNGAR AP Science Writer

April 21, 2022, 6:02 PM

3 min read

Scientists have analyzed the full genetic blueprints of more than 18,000 cancer samples, finding new patterns of mutations that could help doctors provide better, more personalized treatment.

Their study, published Thursday in the journal Science, isnt the first to do such comprehensive whole genome analyses of cancer samples. But no one has ever done so many.

This is the largest cohort in the world. It is extraordinary, said Serena Nik-Zainal of the University of Cambridge, who was part of the team.

Just over 12,200 surgical specimens came from patients recruited from the U.K. National Health Service as part of a project to study whole genomes from people with common cancers and rare diseases. The rest came from existing cancer data sets.

Researchers were able to analyze such a large number because of the same improvements in genetic sequencing technology that recently allowed scientists to finally finish decoding the entire human genome more capable, accurate machines.

We can really begin to tease out the underpinnings of the erosive sort of forces that go to sort of generate cancer," said Andrew Futreal, a genomic medicine expert at MD Anderson Cancer Center in Houston who was not involved in the study.

Cancer is a disease of the genome, or full set of instructions for running cells, that occurs when changes in a persons DNA cause cells to grow and divide uncontrollably. In 2020, there were about 19 million new cancer cases worldwide.

For the study, researchers looked at 19 different types breast, colorectal, prostate, brain and others and identified 58 new clues to the causes of cancer called mutational signatures" that contribute to the development of the disease. They also confirmed 51 of more than 70 previously reported mutation patterns, Nik-Zainal said.

Some arise because of problems within a persons cells; others are sparked by environmental exposures such as ultraviolet radiation, tobacco smoke or chemicals.

Knowing more of them helps us to understand each persons cancer more precisely, which can help guide treatment, Nik-Zainal said.

Genetic sequencing is already being woven into cancer care as part of the growing trend of personalized medicine, or care based on a patients genes and specific disease. Now doctors will have much more information to draw from when they look at individual cancers.

To help doctors use this information, researchers developed a computer algorithm that will allow them to find common mutation patterns and seek out rare ones. Based on a particular pattern, Nik-Zainal said a doctor may suggest a certain course of action, such as getting immunotherapy.

Futreal said the data can also show doctors what tends to happen over time when a patient develops a cancer with a certain mutation pattern helping them intervene earlier and hopefully stop the developing disease in its tracks.

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Department of Science Education. The AP is solely responsible for all content.

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Study mines cancer genetics to help with targeted treatment - ABC News

Pregnancy for women marks the beginning of a new stage in their lives. Like any other parent, Juhi (namechanged) was excited when she learned about her pregnancy. She had suffered a miscarriage previouslyas her foetus was affected by down syndrome. While consulting with a geneticist, she was advised of a few options that included a non-invasive prenatal test (NIPT) to help screen for down syndrome and a fewother chromosomal disorders. She chose NIPT and waited anxiously for the results. The results arrived soon enough, and it was observed that Juhis baby had a very low or negligible risk ofhaving a serious chromosomal disorder. A few months later she delivered a healthy baby girl. Juhi was elated with the outcome and also understood the value of a genetic test and now advises all herrelatives to undergo a prenatal screening test. A non-invasive prenatal screening test provides expecting parents with reliable information about theirbabys genetic makeup. Such information is vital to expectant parents for thought-through earlypregnancy decisions and to avoid the distress caused by the birth of an abnormal baby unexpectedly.

What are chromosomaldisorders?

The human genetic material consists of 23 pairs of chromosomes. Therefore, any change in this number,wherein extra gain or loss of chromosome can lead to a serious disorder. The most common of thesedisorders are, Trisomy 21, Trisomy 18 and Trisomy 13, in the population.The estimated risk incidence of a baby with a chromosomal disorder is 1:166 births.Therefore, standard pregnancy care involves early screening for serious chromosomal abnormalities.

Genetic screening tests allow for identifying the genetic disorders or potential risks that the unborn babymay carry.NIPT (Non-Invasive Prenatal Test) has brought precision to the practice of diagnosis. With the advancement in technology, tests have been developed that are safe for the foetus and non-invasive. The non-invasive prenatal screening test can screen for common chromosomal abnormalitiessuch as Trisomy 21(Down syndrome), Trisomy 18 (Edward syndrome), Trisomy 13 (Patau syndrome) andcertain other abnormalities like monosomy X (Turners syndrome). There are three main reasons why couples should opt for a test:

It helps identify foetuses at risk of serious chromosomal abnormality.

Leads to better management by providing early information.

Prepares for birth and early intervention wherever possible.

Who needs to get tested?

Non-invasive prenatal testing can be recommended to any pregnant woman but is usually recommendedwhen:

The woman is above 30 years of age. Maternal serum screening provides abnormal results.

Certain abnormalities during the ultrasound are identified.

There is a family history of chromosomal conditions or congenital disabilities.

Couples have had a child with a chromosomal disorder.

A couple has a history of infertility or pregnancy loss.

Genetic testing of the pregnancy remains important as pregnancy is a time-sensitive period. When the general pregnant population is screened, most pregnancies eventually have a low risk of theseconditions. However, about 2-3% of the tested population by NIPT, receive a highrisk result whichrequires follow up confirmatory testing through invasive procedures.

(The author is an expert atreproductive genomics.)

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It's in the genetics - Deccan Herald

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Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland | Scientific...

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If we understand the causes of cancer, then we can start highlighting the known causes, the lifestyle issues that introduce or increase our risk

Environmental and metabolic factors not just genetics are growing considerations in the fight against cancer, concludes a research review by a leading expert at the University of Alberta.

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Cancer as a genetic disease, focusing on the set of genetic instructions every person is born with; it is also an environmental disease, focusing on the exposome, which includes everything a persons body has been exposed to; and cancer is a metabolic disease, focusing on the metabolome, or all the chemical byproducts of the process of metabolism, explains David Wishart, professor in the departments of biological sciences and computing science, in a Thursday news release.

But that metabolic perspective hasnt had much research until now, as more scientists begin to understand the metabolomes role in cancer.

Heritable cancers account for just five to 10 per cent of all cancers, Wishart said, with the other 90 to 95 per cent initiated by factors in the exposome, which in turn trigger genetic mutations.

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Thats an important thing to consider, because it says that cancer isnt inevitable.

As cancer develops and spreads in the body, it creates its own environment and introduces certain metabolites, becoming a self-fuelled disease. And thats where cancer as a metabolic disorder becomes really important.

Considering the genome, exposome and metabolome together when thinking about cancer shows more promise for finding treatments.

Researchers who focus only on the genetic perspective are looking to address particular mutations but there are around 1,000 genes that can become cancerous when mutated, and it typically takes two different mutations within these cells for cancer to grow, notes Wishart, meaning there are a million potential mutation pairs. Then it can become hopeless to narrow down possibilities when seeking new treatments.

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But considering cancer from the metabolic perspective, there are just four major metabolic types, said Wishart, so determining the patients cancer type can immediately guide doctors on the best treatment for their specific cancer.

It really doesnt make a difference where the cancer is its something youve got to get rid of. Its how it thrives or grows that matters, said Wishart. It becomes a question of, Whats the fuel that powers this engine?

Wishart cautions that health-care providers still need a mix of therapeutics for cancer, and a deeper understanding of the metabolome and its role in the cancer feedback loop is also critical to preventing cancer.

If we understand the causes of cancer, then we can start highlighting the known causes, the lifestyle issues that introduce or increase our risk, he said.

From the prevention side, changing our metabolism through lifestyle adjustments will make a huge difference in the incidence of cancer.

The research review was funded by Genome Canada, the Canadian Institutes of Health Research and the Canada Foundation for Innovation.

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Treating, preventing cancer beyond genetics: U of A researcher - Edmonton Journal

Photo provided by Lionheart Cannabis

Chris Fanuzzi calls it his genetic library.

Seed descriptions, batch logistics and references to growers and cultivators who supplied some of the seeds are all noted in the heaps of pages of mostly handwritten notes in his trusty binder.

There are more than 400 recipes for Fanuzzis renowned rotating cannabis menu items, including the famous original Montana Silvertip, a hybrid strain. In the cannabis industry, the term strain refers to a variety of the cannabis plant and can include characteristics such as chemical profile, appearance and effects on consumers.

Maintaining the integrity of the original seeds over time is incredibly difficult for any cultivator, said Fanuzzi, owner and founder of Lionheart Cannabis, Montanas leading medical and recreational cannabis provider. Its an art to be able to sustain a particular genetic makeup of any one plant, especially when you consider these plants are growing alongside one another with the ability to pick up characteristics of the plant strains located, literally, right next to them. And that doesnt even take into account trying to maintain a completely stable environment from year to year, all against a backdrop of legislation that is constantly changing.

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But Fanuzzi has made it work. His company is renowned for its focus on quality, top-of-the-line products, compassionate patient care and educational awareness among clients.

Lionheart currently produces myriad oils, edibles and tinctures in a variety of flavors, strengths and price ranges. In addition to its headquarters in Bozeman, the company has five cultivation facilities throughout the state, as well as dispensaries in Billings, Butte, Helena, Great Falls (Herbal Bliss), Kalispell, Livingston andMissoula.

With 50 to 60 strains on the shelves at any one time, Lionheart is set to roll out scrolling digital menus that will provide customers with real-time product availability and pricing. The company is also enhancing its on-site customer experience by redesigning retail space to include more open floor plans and visual product display areas.

We want to encourage our customers to spend as much time as they want with our budtenders when they are onsite, to look at every jar to find that bud that is really going to work for them, he said. The online menu will only complement that experience.

But back to Montana Silvertip. A genetic cross between Purple Urkel (also known as Granddaddy Purple) and Super Silver Haze, the sativa-dominant bud has a THC level anywhere from 20% to 30%, with an earthy pine and blueberry taste.

Its an absolutely beautiful strain with hues of bright lavender and frosty white, Fanuzzi said. We continue to cross-pollinate its seeds with some of our other renowned strains such as Wedding Crasher, Mandarin Cookie, Purple Punch and Meathead, resulting in some really incredibly viable genetics with lots of different properties that are very popular with our customers.

Other favored staff picks include Do Si Dos, Kimbo Kush, Blue Dream, Lucky Charms, Key Lime Pie and Ginger Tea. And while consumers should note the THC potency levels listed on the product packaging, Fanuzzi said other things to consider include terpene profiles, how the buds are stored (glass jars and turkey bags are best), the smell (too much moisture results in a moldy odor) and feel (should feel spongy like a marshmallow when squeezed). If the bud is too dry, it will crumble. Also, buds stored in sunlight lose their potency more quickly.

Fanuzzi said as his recipe library for strains continues to grow, it also includes notations for those strains that have been bred out over time, including one of his most legendary" strains, the Papaya. Unfortunately, I developed it back in 2007 and never cloned it. So once it was gone, it was gone, recalled Fanuzzi.

Strains today represent combinations and cross-breeding of some of the best products and varieties people like. There are only so many families of land-raised genetics out there, so you continue to fine-tune until you achieve what you think is the perfect combination.

At that point, Fanuzzi adds another page to his binder.

Visit lionheartcannabis.com for more information.

Information provided is for educational and informational purposes only and does not supersede any medical advice given by a physician. Cannabis is still considered a schedule 1 controlled substance and is illegal under federal law. Adults who consume cannabis must keep cannabis products away from animals and out of reach of children. Note that the intoxicating effects of cannabis can sometimes be delayed, so do not operate a vehicle or machinery after consumption. Use of cannabis during pregnancy or while breastfeeding may be harmful. By purchasing cannabis from a dispensary, you are assuming the risk of any damage or loss that occurs during its use.

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Lionheart Cannabis' genetic strains stand the test of time - Billings Gazette

About the position

There is a vacancy for one PhD candidate at The Department of Clinical and Molecular Medicine in collaboration with The Department of Medical Genetics at St. Olavs hospital. The PhD candidate will work on different aspects of the Clinical Academic Group for Rare Genetic Diseases (CAG).

One of the main aims of the CAG is to apply state-of-the-art disease-modelling to the rare genetic diseases. The PhD project will address the steps in onset of neurodevelopmental diseases and identify potential points for diagnostic and therapeutic intervention.

We have implemented different human cell culture and organoid models that enable studying of disease development and progression, as well as the analysis of relevant pathomechanisms. The PhD student will be involved in generation and characterization of patient-specific and healthy-individual induced pluripotent stem cells, development of disease models and their characterization through transcriptome and proteome analysis, imaging and functional testing. As such the project includes work with big data sets.

Required selection criteria

The appointment is to be made in accordance with the regulations in force concerningState Employees and Civil ServantsandRegulations concerning the degrees ofPhilosophiaeDoctor (PhD)andPhilosodophiaeDoctor (PhD) in artistic researchnational guidelines for appointment as PhD, post doctor and research assistant

Preferred selection criteria

Personal characteristics

We offer

Salary and conditions

PhD candidates are remunerated in code 1017, and are normally remunerated at gross from NOK 491 200 per annum before tax, depending on qualifications and seniority. From the salary, 2% is deducted as a contribution to the Norwegian Public Service Pension Fund.

The period of employment is 3 years.

Appointment to a PhD position requires that you are admitted to thePhD programme in Medicine and Health Sciences within three months of employment, and that you participate in an organized PhD programme during the employment period.

The engagement is to be made in accordance with the regulations in force concerning State Employees and Civil Servants, and the acts relating to Control of the Export of Strategic Goods, Services and Technology. Candidates who by assessment of the application and attachment are seen to conflict with the criteria in the latter law will be prohibited from recruitment to NTNU. After the appointment you must assume that there may be changes in the area of work.

It is a prerequisite you can be present at and accessible to the institution daily.

About the application

The application and supporting documentation to be used as the basis for the assessment must be in English.

Publications and other scientific work must follow the application. Please note that applications are only evaluated based on the information available on the application deadline. You should ensure that your application shows clearly how your skills and experience meet the criteria which are set out above.

The application must include:

If all,or parts,of your education has been taken abroad, we also ask you to attach documentation of the scope and quality of your entire education, both bachelor's and master's education, in addition to other higher education. Description of the documentation required can befoundhere. If you already have a statement fromNOKUT,pleaseattachthisas well.

Joint works will be considered. If it is difficult to identify your contribution to joint works, you must attach a brief description of your participation.

In the evaluation of which candidate is best qualified, emphasis will be placed on education,experienceand personal and interpersonalqualities.Motivation,ambitions,and potential will also countin the assessment ofthe candidates.

NTNU is committed to following evaluation criteria for research quality according toThe San Francisco Declaration on Research Assessment - DORA.

General information

Working at NTNU

A good work environment is characterized by diversity. We encourage qualified candidates to apply, regardless of their gender, functional capacity or cultural background.

The city of Trondheimis a modern European city with a rich cultural scene. Trondheim is the innovation capital of Norway with a population of 200,000. The Norwegian welfare state, including healthcare, schools, kindergartens and overall equality, is probably the best of its kind in the world. Professional subsidized day-care for children is easily available. Furthermore, Trondheim offers great opportunities for education (including international schools) and possibilities to enjoy nature, culture and family life and has low crime rates and clean air quality.

As an employeeatNTNU, you must at all times adhere to the changes that the development in the subject entails and the organizational changes that are adopted.

In accordance with The Public Information Act (Offentleglova), your name, age, position and municipality may be made public even if you have requested not to have your name entered on the list of applicants.

If you have any questions about the position, please contact Professor Barbara van Loon, telephone +47 73 59 84 23, emailbarbara.v.loon@ntnu.no; Senior consultant clinical geneticist Rune stern, emailRune.Ostern@stolav.no. If you have any questions about the recruitment process, please contact Vebjrn F. Andreassen, e-mail:vebjorn.andreassen@ntnu.no

Please submit your application electronically via jobbnorge.no with your CV, diplomas and certificates. Applications submitted elsewhere will not be considered. Diploma Supplement is required to attach for European Master Diplomas outside Norway. Chinese applicants are required to provide confirmation of Master Diploma fromChina Credentials Verification (CHSI).

Application deadline: 16.05.22

NTNU - knowledge for a better world

The Norwegian University of Science and Technology (NTNU) creates knowledge for a better world and solutions that can change everyday life.

The Department of Clinical and Molecular Medicine (IKOM):

The Department of Clinical and Molecular Medicine (IKOM) is NTNUs largest department, with 450 employees. Our research and teaching help to improve treatment and health.

IKOM has expertise in basic, clinical and translational research within broad disciplinary areas. We study childrens and womens health, cancers, blood disorders and infectious diseases, gastroenterology, inflammation, metabolic disorders, laboratory sciences and medical ethics. The Department offers teaching in medicine at masters and PhD level. We also offer continuing education for employees in the health services.

Deadline16th May 2022EmployerNTNU - Norwegian University of Science and TechnologyMunicipalityTrondheimScopeFulltimeDurationProjectPlace of service

Excerpt from:
PhD Candidate in Rare Genetic Diseases job with NORWEGIAN UNIVERSITY OF SCIENCE & TECHNOLOGY - NTNU | 291220 - Times Higher Education

Is it possible to breed low-emissioncattle and sheep?

A group of Australian researchers and industry leaders think so and they are putting $19 million towards making it happen.

The University of New England, Armidale (UNE) is collaborating with Angus Australia, Meat and Livestock Australia and the NSW Department of Primary Industry to develop genetics to breed livestock that emits less methane.

The project is in line with the beef industry's goal to reach zero carbon emissions by 2030.

"We have always been keen to look at measuring the traits related to methane emissions on our cattle so in the future we can select Angus bulls that will produce lower methane but still be productive," Angus Australia's general manager for genetic improvementChristian Duffsaid.

Mr Duff said the organisation's involvement in the project was driven by the consumer.

"There is no doubt there is a trend towards people wanting to be aware of where their product comes from and its impact on the environment.

"The way we can have an impact is by making sure we're recording those methane traits on cattle ... and then in the future having information to select bulls."

UNE researchersare confident that, through the project, they can achieve a steady and permanent reduction in methane emissions from livestock.

Two UNEprofessors will investigate how to improve the genetic make-up of sheep and cattle.

Over the next five years, they will measure the methane output of 8,000 cattle and 10,000 sheep living in both feedlot and grazing conditions.

The variation between different animals will be analysed and data used to predict which of those animals have genetics that may lower the emissions they produce.

Associate Professor Sam Clark willresearchthe beef component, and saidboth projects could result in a 25 per cent reduction in methane emissions in livestock by 2050.

"A plausible amount to expect from genetic technologies is about 1 per cent methane reduction per year,"he said.

"The key point about that 1 per cent per year is that, when we use breeding to make that change, it's cumulative and permanent.

"It's a bit like your interest rate for the bank, it just keeps accumulating on top of itself."

The project is scheduled to start laterthis month.

See more here:
Armidale researchers hope genetic selection will be key to raising steaks with lower emissions - ABC News

IN 2016, INVENTOR and scientist Erik Gentalen reached out to a former colleague with exciting news, and a proposition.

"I started a company, and we could use some help," Gentalen said. The former colleague, Lena Wu, had worked with him around 15 years earlier as the director of business development at Caliper Technologies, a Mountain View, California-based bioresearch firm. Gentalen's new company, Intabio, would launch his latest invention, an instrument to analyze and ensure the efficacy and safety of biopharmaceutical drugs. Called the Blaze System, the machine could reduce the analysis time from weeks in some cases to less than 30 minutes per sample, dramatically shortening a drug's development period.

Wu joined Intabio's board later that year and became CEO the next. It was a hire that paid dividends in unexpected ways. When it came time to raise startup capital, Gentalen turned to Genoa Ventures managing director Jenny Rooke, whom he'd met through other investors in the life sciences industry.

"It was Erik's openness to bringing in Lena's complementary strengths that attracted me to the company," Rooke says. "When Lena joined forces with Erik as his business partner and Intabio's CEO, I knew the time was right."

In 2017, Rooke's San Francisco-based venture capital firm led Intabio's $3.2 million seed financing.

"It was clear from the earliest meeting that Jenny had great technical expertise, was willing to be collaborative in solving issues, and was thoughtful and strategic," Wu says. "Many people in Jenny's position are super supportive but not critical. She's the rare combination of both."

Rooke honed her expertise while earning a PhD in genetics at Yale, after which she worked at McKinsey advising pharmaceutical and biotech companies on business strategy. She also served in the executive ranks of U.S. Genomics (later called PathoGenetix), leading R&D and corporate development. Rooke knew the business. According to Wu, she had a keen eye for burnout, a common affliction among entrepreneurs. "She would say, 'You need to take a break. Now, go on vacation,' " Wu recalls. "I've never had another VC tell me to go on vacation."

Though Genoa didn't lead Intabio's Series A or Series B funding rounds, which brought the company's total funding to $30 million, Rooke introduced Wu to other investors and identified VCs to target. "We gained a great deal of credibility as a good investment given Jenny's reputation and the fact that she led our seed round," Wu says.

Intabio's first non-founder hire after raising capital was principal scientist Scott Mack, who helped develop the company's technology and was the first author of the company's published scientific paper describing the technology. (Mack's dog is also the Blaze System's namesake.) As of early 2021, Intabio had more than 40 employees.

Mack and Blaze (the system, not the dog) had their work cut out for them. Getting from a prototype that was tested only in-house at Intabio to a pre-commercial beta system took three years of development. Pharmaceutical companies Pfizer and Janssen Pharmaceuticals beta-tested the Blaze system, while Merck was an "early access collaborator" that sent samples to Intabio to analyze at the company's lab and return the results. Wu developed Intabio's go-to-market strategy and early access program, with Rooke helping refine and pressure-test aspects of the strategy.

When all was said and done, the proof-of-concept method worked. In January 2021, the life sciences company Sciex announced it had acquired Intabio for an undisclosed sum, just three and half years after the startup began operations. And when negotiating the deal, Wu relied on Rooke to play the role of not just investor but true partner.

"Jenny's input was, as always, both supportive and rigorous," Wu says. "It gave me the confidence that as a management team, we were making the right decision."

From the October 2021 issue of Inc. Magazine

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How a Venture Investor with a PhD in Genetics Helped This Biotech Firm Get Started, Funded, and Acquired - Inc.

MCLEAN, Va., Oct. 1, 2021 /PRNewswire-PRWeb/ --The Multiple System Atrophy ("MSA") Coalition announces a ground-breaking million-dollar multi-year collaborative project focused on exploring the genetics of up to 1,200 people with either a diagnosis of probable MSA, in the case of living patients, or postmortem pathological confirmation of multiple system atrophy, aimed at locating commonalities in their genes that might contribute to the development of multiple system atrophy. The aim of this collaborative study is to sequence and organize the genomes of existing genetic samples as well as to organize previously sequenced whole-genome data into a single database that is accessible to researchers worldwide. While many researchers have looked at the genetics of MSA, this will be the first time such a large number of genomes from ethnically diverse populations have been sequenced and organized in such a way as to facilitate thorough analysis and collaborative enterprise.

"MSA is not typically passed from parent to child, except in extremely rare cases. However, there are still important clues about the underlying cause of MSA that can be found by examining the genetic code of a large population of MSA patients and looking for commonalities. Because MSA is a such a rare disease, there is a need for multiple researchers to work together and pool their data. Until now there has not been a concerted effort among genetic labs to combine these rare genetic samples from MSA patients with diverse backgrounds into a large, shared database," said Pam Bower, chair of the MSA Coalition's research committee. "The MSA Coalition is proud to be the driver of this ground-breaking study."

University of Florida will perform genetic sequencing under the direction of Matt Farrer, PhD, while storage, analysis and visualization of data will occur at Harvard Medical School in the Clinical Genome Analysis Platform ("CGAP") under the direction of Dana Vuzman, PhD. Additional genomic information will be provided by University College of London, Queen Square Institute of Neurology under the direction of Henry Houlden, MBBS, MRCP, PhD; by Translational Genomics Research Institute (TGen) under the direction of Matt Huentelman, PhD (Funded in part by the Rex Griswold Foundation, a grant from the NIH NINDS (R21-NS093222, PI: Huentelman), and through institutional support of TGen.); and by Seoul National University, under the direction of Beomseok Jeon, MD, PhD and Han-Joon Kim, MD, PhD. The Core G team also plans to coordinate their work with that being done at NIH under the direction of Sonja Scholz, MD, PhD. The group, collectively known as "Core G" (Genetics), will work closely with Vik Khurana, MD, PhD, board member and Scientific Liaison of the Board of Directors of the MSA Coalition and Chief of the Movement Disorders Division at Brigham and Women's Hospital and Harvard Medical School. Dr. Khurana will endeavor to integrate Core G team-member efforts more broadly into the MSA Collaborative Cores Initiative sponsored by the Coalition that will seed fund additional projects over time.

"I am thrilled that after years of planning and deliberation that Core G is funded and ready to go," said Khurana. "This group of terrific researchers, together with their expertise, bring precious patient samples from three continents to establish a foundation upon which other collaborations and initiatives will be built. We are under no illusion that the genetics of MSA will prove challenging, no less than a moonshot. At the same time, genetic insights promise to unlock powerful hypothesis-driven science that can find cures. And so, this moonshot is worth the effort and has been structured to be collaborative, open and sustainable in the long-term."

"We are incredibly proud of assembling this group of world-renowned researchers to collaborate on this project. It has taken almost three years to organize this project and obtain consents from all the institutions involved. Great care has been taken by all contributing institutions to safeguard the privacy of the patients and anonymize the genetic materials, so that patient privacy is protected," said Cynthia Roemer, MSA Coalition board chair. "We are also grateful to our many donors, who have made this project possible, and to the patients we have lost to MSA who generously left bequests to the MSA Coalition to further critical research like this. We quite literally could not do it without them!"

Dana Vuzman, PhD is an Instructor of Medicine at Harvard Medical School and the Director of Genomic Platform Development at DBMI. Dr. Vuzman oversees the implementation of the Clinical Genome Analysis Platform (CGAP) and the Single Cell RNA Platform in the Department. Prior to joining DBMI, she served as Chief Informatics Officer at One Brave Idea, Sr. Director of Biomedical Informatics at KEW, Inc., and Co-Director at Brigham Genomic Medicine. Dr. Vuzman earned her PhD in Computational Biology from the Weizmann Institute of Science in Israel and completed her postdoctoral training in Computational Genetics at Brigham and Women's Hospital and Harvard Medical School.

Matt Farrer, PhD is critically acclaimed for his work in the genetics and neuroscience of Parkinson's disease. His inspiration to apply genetic analysis to complex neurologic disorders came from early work as a care assistant of patients and families with neurologic and psychiatric disorders. Dr. Farrer earned his first degree in Biochemistry with a Doctoral degree in Molecular and Statistical Genetics from St. Mary's Hospital Medical School, UK. He completed a fellowship in Medical Genetics at the Kennedy-Galton Centre, UK and in Neurogenetics at Mayo Clinic. Dr. Farrer became an Assistant Professor of Molecular Neuroscience in 2000 where he opened his first laboratory to predict and prevent Parkinson's disease. Dr. Farrer became a tenured professor in 2006, a Mayo Consultant, and subsequently, a Distinguished Mayo Investigator. In 2010, Dr. Farrer was awarded a Canada Excellence Research Chair to build the Centre for Applied Neurogenetics and Neuroscience at the University of British Columbia, Vancouver, Canada where he became a Professor of Medical Genetics. The Province of British Columbia subsequently awarded him the Don Rix Chair in Precision Medicine, and his team had many notable accomplishments including several new genes and mouse models for Parkinson's disease. The team also implemented high-throughput sequencing in pediatric seizure disorders and neonatology in clinical service. The former was funded through the Medical Services Plan of British Columbia and was a first for Canada.

In 2019, Dr. Farrer accepted an endowed chair at the Norman Fixel Institute for Neurological Diseases (thanks to a generous endowment from the Lauren and Lee Fixel Family Foundation). Dr. Matt Farrer also directs the UF Clinical Genomics Program. As such he currently has appointments and affiliations in the UF College of Medicine's Neurology and Pathology Departments, Clinical and Translational Science Institute, the Evelyn F. and William L. McKnight Brain Institute, the Center for Translational Research in Neurodegenerative Disease, and the Center for Neurogenetic in addition to the Norman Fixel Institute for Neurological Diseases.

Henry Houlden, MBBS, MRCP, PhD: Dr. Houlden is a professor of neurology and neurogenetics in the Department of Neuromuscular Disease, University College, London, Queen Square Institute of Neurology, and undertakes research laboratory works on neurogenetics and movement disorders with a particular interest in rare diseases that are adult or childhood-onset, such as multiple system atrophy (MSA), spinocerebellar ataxia and other movement disorders, inherited neuromuscular conditions, and difficult to diagnose disorders, particularly in diverse and underrepresented populations. He assists with the integration of new gene discovery with exome and genome sequencing identifying disease genes such as CANVAS, NARS1, NKX-6.2, SCA11, SCA15, GRIA2, and GAD1, with functional experimental validation in human tissue and other model systems. Dr. Houlden has clinical expertise in inherited neurological disorders and movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia and neuromuscular conditions.

Matt Huentelman, PhD: Dr. Huentelman's research interests center around the investigation of the "-omics" (genomics, transcriptomics, and proteomics) of neurological traits and disease. His laboratory's overarching goal is to leverage findings in these disciplines to better understand, diagnose, and treat human diseases of the nervous system.

Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute where he investigated the application of gene therapy in the study and prevention of hypertension. His undergraduate degree is in Biochemistry from Ohio University's Department of Chemistry and Biochemistry at Clippinger Laboratories. Dr. Huentelman's career includes visiting researcher stints in Moscow, Russia at the MV Lomonosov Moscow State University "Biology Faculty" and in the United Kingdom within the University of Bristol's Department of Physiology.

Beomseok Jeon, MD, PhD: Professor Jeon is the medical director of the Movement Disorder Center, Seoul National University Hospital and is interested in genetics of Parkinsonism and medical and surgical treatment of advanced Parkinson's Disease.

Dr. Jeon earned his undergraduate, MD and PhD degrees from Seoul National University. His clinical interests include Parkinson's disease and other movement disorders including tremor, ataxia, dystonia, and chorea. His research focuses on the role of genetics in movement disorders, especially in the Korean population. He has established a DNA bank of thousands of Korean patients with movement disorders and normal controls. He is also involved in treatment of advanced Parkinson disease, and works with neurosurgical colleagues for various surgical treatment.

Han-Joon Kim, MD, PhD: Dr. Kim is a Professor in the Department of Neurology and the Movement Disorder Center at Seoul National University Hospital, Seoul, Korea. After graduation from the Medical College of Seoul National University in 1997, Dr. Kim took an internship and residency in neurology at Seoul National University Hospital (SNUH) where he became a Movement Disorder Specialist.

Clinically, Dr. Kim has experience with patients with various movement disorders including Parkinson's Disease (PD), Multiple System Atrophy (MSA), other atypical Parkinsonisms, and ataxias. Notably, Dr. Kim has set up a large registry of Korean MSA patients, which will serve as a basis for both observational and interventional studies in this rare disease.

Sonja W. Scholz, MD, PhD: Dr. Scholz is a Neurologist and Neurogeneticist specialized in movement and cognitive disorders. She received her medical degree from the Medical University Innsbruck, Austria. Following graduation, she was a post-doctoral fellow at the Laboratory of Neurogenetics at the NIH's National Institute on Aging (NIA) under the supervision of Drs. Andrew Singleton and John Hardy. She obtained a Ph.D. in Neurogenomics from the University College London, UK in 2010. She then moved to Baltimore to complete her neurology residency training at Johns Hopkins. In 2015, Dr. Scholz received the McFarland Transition to Independence Award for Neurologist-Scientists. She is a Lasker Clinical Research Tenure Track Investigator within the Neurogenetics Branch at the NIH's National Institute of Neurological Disorders and Stroke (NINDS). Her laboratory focuses on identifying genetic causes of neurodegenerative diseases, such as dementia with Lewy bodies, multiple system atrophy, and frontotemporal dementia.

Media Contact

Moriah Meeks, MSA Coalition, +1 (312) 270-0171, mmeeks@staff.msacoalition.org

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The Multiple System Atrophy Coalition Announces a Groundbreaking Project to Explore the Genetics of MSA - Johnson City Press (subscription)

Data breaches are scarily common in todays digital world, and even gargantuan businesses can easily be brought to their knees should a wayward phishing attempt (or a disgruntled former employee) succeed in making off with valuable information.

While your small business probably doesnt have all of the same calibre of worries as your more monolithic counterparts, dont make the mistake of thinking that your data cant be stolen to devastating effect, even if you think the data you have is irrelevant and not worthy of being stolen (youre wrong).

Cloud storage and increased collaborative tool use means that things like sensitive documents and files are at increased risk of theft. Small businesses are especially susceptible to this due to a lower likelihood of advanced security usage, so it pays to know what kinds of things you might be at risk of losing.

According to MUO, employees are most likely to steal collaborative documents, consumer databases, and any resources devoted to research and development.

Safeguarding these items can be tricky due to their relatively high-traffic use, so a preventive strategy is your best defense.

It should be noted that trust in your employees is crucial, and treating them like theyre poised to steal from you at any moment is not a particularly effective management strategy.

However, its important to be aware of the following reasons and possible preventive measures for employee theft of data.

Firstly, corporate espionage (as dramatic as it sounds) is still something you have to worry about as a small business owner. It isnt uncommon for competitors to bribe (or even simply persuade) current employees to share data, even if your competitors are relatively small themselves.

Your employees should know that data is sacred (and confidential), but employing things like intrusion systems and holding trainings for recognition of espionage can help prevent this problem.

Those competitors might also try to snag some of your employees, and not just for their work ethic. Employees may save their own copies of documents that they think will be helpful in their new workspace; in doing so, they can unwittingly aid your competitor with much more than their skillset. Again, reminding your employees that all work documents are both confidential and property of your brand can cut down on accidental data theft in this category.

Non-Compete agreements and NDAs can also prevent this kind of theft, intentional or otherwise; if an employee chooses to leave your business, making sure they are aware of their contractual obligations is key. Perhaps the worst competitor you can have is a former employee who launches their own business in your field, though, and this is a situation in which data theft can be intellectual. Once again, Non-Competes and NDAs are helpful in mitigating damage in this context.

Finally, angry employees can find themselves doing a myriad of dumb (and harmful) things, up to and including data theft.

As mentioned earlier, early prevention is the best way to keep your data on your servers and out of your departing employees hands. Restricting employee access to files and folders can limit the number of possible breaches, and the aforementioned Non-Compete and Nondisclosure agreements are absolutely crucial in any business that deals in datajust make sure youre discussing the terms of those agreements with employees as they come and go.

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This startup wants to keep your dog alive longer based on genetic info - The American Genius

The first look at a threatened rattlesnake species recent genetic history suggests that inbreeding necessitated by limited habitat may not be as detrimental as theory would predict it to be.

In fact, scientists speculate that Eastern massasauga rattlesnakes may have pre-adapted to living in small, isolated populations where the most dangerous genetic mutations that arose could be easily exposed and purged.

Researchers sequenced the genomes of 90 Eastern massasauga rattlesnakes, which were listed as threatened under the Endangered Species Act in 2016 because of loss and fragmentation of their wetland habitat. For comparison, the researchers also sequenced 10 genomes of a close relative, the Western massasauga rattlesnake, a common species with no limitations on breeding opportunities and large populations.

The Ohio State University team found that the most potentially damaging gene mutations were less abundant in the Eastern than the Western species. This finding suggests the breeding limitations of small, isolated populations might be accompanied by an evolutionary advantage of being able to elbow out genetic variants that get in the way of survival, saidH. Lisle Gibbs, professor of evolution, ecology and organismal biology at Ohio State and senior author of the study.

This is something that has been reported very recently in other endangered species, but its the first time its been shown in a reptile, Gibbs said. We always worry about genetics and the loss of variation and what it means to be in a small population in which theres lots of inbreeding. At least in this species, maybe its not such a big deal.

From a conservation perspective, perhaps we can downplay genetics and say ecology such as habitat restoration is more important.

Gibbs completed the study with Alexander Ochoa, a former postdoctoral researcher at Ohio State who is now a postdoctoral scholar at the University of Central Florida. The research is published in the journal Molecular Ecology.

Eastern massasauga rattlesnakes live in isolated spaces in midwestern and eastern North America, and evolutionary theory posits that the inevitable inbreeding in such populations threatens species with extinction as genetic mutations accumulate. The smallest populations might reach 30 snakes, but Ohios Killdeer Plains Wildlife Area is home to one of the most genetically diverse and largest populations in the country, numbering in the thousands.

Gibbs has studied Eastern massasaugas for over two decades and, as director of the Ohio Biodiversity Conservation Partnership, advises the Ohio Department of Natural Resources on management of the species.

Through years and years of study, we know that most populations are isolated, like little natural zoos scattered throughout the landscape, Gibbs said. Due to habitat degradation, weve known they show little variation but weve never actually looked at variation in genes that code for things that matter to a rattlesnake.

Only recently has it been possible to apply the research techniques perfected with the human genome to work with this species. Gibbs and Ochoa zeroed in on identifying mutations in genes that may affect survival and reproduction to gauge how hazardous inbreeding might be to Eastern massasaugas.

Though a higher overall number of potentially deleterious mutations were found in the common Western massasaugas, that didnt translate to more threats to their survival because most troublesome gene copies were offset by protective copies. That can happen only in heterozygotes, which have two different copies, or alleles, of a particular gene one inherited from each parent. Because of generations of inbreeding, Eastern massasaugas are much more likely to have two copies of the same allele.

Thats why inbreeding has impacts because thats when you get two bad alleles showing up together, with no good allele to compensate, so there is a negative effect, Gibbs said. Theres more inbreeding, so overall you get more mostly bad mutations together, but the really bad ones, because theyre exposed, are also eliminated at a much greater rate.

Through another analytical technique comparing the narrowing of the Eastern and Western massasauga genetic makeup over several hundred years, Gibbs and Ochoa confirmed the impact human activity has had on the Eastern massasaugas swampy habitat. Unlike the Eastern species, Western massasaugas live in grassy and woodland regions of the south-central United States that are less densely populated by humans.

We looked at what has happened in these snakes and their population sizes over the last 300 years, which is when humans have been tromping all over North America, impacting the landscape, Gibbs said. The impacts in terms of reducing population sizes are greater in Eastern than in Western massasaugas over this period.

The findings could influence management decisions. A common conservation practice would involve introducing snakes from a more genetically diverse population into a highly isolated group to counter the effects of inbreeding. But it turns out the Eastern massasauga might benefit more from preservation of its habitat while the genetics takes care of itself.

This counterintuitive result makes us rethink what living in a small population is, and whether genetic problems are as important as we think they are, Gibbs said. This is certainly not to say living in a small population isnt bad it just may be that the genetic effects are not as bad as we thought.

This work was supported by the State Wildlife Grants Program administered jointly by the U.S. Fish and Wildlife Service and the Ohio Division of Wildlife, with funds provided by the Ohio Biodiversity Conservation Partnership between Ohio State and the Ohio Division of Wildlife, as well as the National Science Foundation.

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Threatened rattlesnakes' inbreeding makes species more resistant to bad mutations - The Ohio State University News

Dublin, Sept. 30, 2021 (GLOBE NEWSWIRE) -- The "Global Animal Genetics Market Research Report: Forecast (2021-2026)" report has been added to ResearchAndMarkets.com's offering.

The global animal genetics market is likely to grow at a CAGR of 6.4% in the forecast period of 2021-26 due to the surging advancements in continuous genetic alteration practices resulting in the growing production of animals with modified breeds and massive investments by numerous end-user industries. Animal producers are gaining huge milk & meat production by leveraging the technology of animal genetic alterations. With the help of strategic breeding, farmers can yield more substantial gains, which shall expand the end-user base and the overall market growth.

Based on the Animal Type, the Poultry segment registered the fastest market growth. It accounted for higher than USD 1.4 billion in recent years and is likely to continue the pace. The prominent factors for the market growth are the rise in the requirement for better quality food products, like meat, eggs & milk, and the flooding population & urbanization across regions. Hence, it shall continue to propel the demand and attain the fastest market growth in the forecast period.

Based on the Animal Type, the Canine segment in the animal genetics market shall attain the largest market share in the forecast years. It owes to the rapidly increasing research for high-quality breeding among dogs. Furthermore, the genetic research on canines is expanding the discovery of diverse genes implicating in the size, personality traits, and fur color. These factors are leading to the exponential demand for animal genetics to enhance the overall market share., states the author in their research report, "Global Animal Genetics Market Analysis, 2021."

Various microeconomic and macroeconomic characters are burgeoning exponential extensions for the APAC market. Factors like high population density and urban sprawl are enduring the demands of food producers to satisfy nutritional needs by increasing livestock production. Moreover, the animal healthcare ecosystem has been on a constant development path and is creating several opportunities for market leaders to bring effective testing procedures.

The Global Animal Genetics Market has a vast opportunity due to the constant launches and developments of new products and strategies. Various companies adopt these practices to extend their brand and product globally in the animal genetics industry.

With the swiftly surging population, their main objective is to meet the growing demands of different people. Moreover, producers operating in the market adopted different approaches of product innovation to cater to the rapidly changing customer demands.

Key Questions Answered in the Market Research Report:1. What are the overall market statistics or market estimates (Market Overview, Market Size- By Value, Forecast Numbers, Market Segmentation, Market Shares) of the Global Animal Genetics Market?2. What is the region-wise industry size, growth drivers, and challenges?3. What are the key innovations, opportunities, current & future trends, and regulations in the Global Animal Genetics Market?4. Who are the key competitors, their key strengths & weaknesses, and how do they perform in the Global Animal Genetics Market based on the competitive benchmarking matrix?5. What are the key results derived from the market surveys conducted during the Global Animal Genetics Market study?

Key Topics Covered:

1. Introduction

2. Preface

3. Executive Summary

4. Impact of COVID-19 on Global Animal Genetics Market

5. Global Animal Genetics Market Trends & Insights

6. Global Animal Genetics Market Dynamics

7. Global Animal Genetics Market Hotspots & Opportunities

8. Global Animal Genetics Market Regulations & Policy

9. Global Animal Genetics Market Outlook, 2016- 2026F

10. North America Animal Genetics Market Outlook, 2016-2026F

11. South America Animal Genetics Market Outlook, 2016-2026F

12. Europe Animal Genetics Market Outlook, 2016-2026F

13. Middle East & Africa Animal Genetics Market Outlook, 2016-2026F

14. Asia Pacific Animal Genetics Market Outlook, 2016-2026F

15. Key Strategic Imperatives for Success and Growth

16. Competition Outlook

Companies Mentioned

For more information about this report visit https://www.researchandmarkets.com/r/sjxkme

About ResearchAndMarkets.comResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends.

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Opportunities in the Animal Genetics Market to 2026: Asia Pacific Set to Witness Rapid Growth in - GlobeNewswire

Lon Cardon, Ph.D., FMedSci

The Jackson Laboratory, an independent, nonprofit biomedical research institution, today announced the appointment of Lon Cardon, Ph.D., FMedSci, a pioneer in human genetics and drug discovery, as its next president and chief executive officer.

Bar Harbor, Maine, Oct. 04, 2021 (GLOBE NEWSWIRE) -- The Jackson Laboratory, an independent, nonprofit biomedical research institution, today announced the appointment of Lon Cardon, Ph.D., FMedSci, a pioneer in human genetics and drug discovery, as its next president and chief executive officer. Effective on November 29, Cardon will succeed current President and CEO Edison Liu, M.D., who will step down after a decade of leadership. Liu will continue to serve as a JAX professor studying the functional genomics of cancer with a focus on breast cancer.

After ten years of steering JAX through impressive expansion, dramatic change and remarkable achievements, Ed has made an indelible impact at JAX as a leader, researcher, and oncologist in our local communities and within the global biomedical research field, said David Roux, chairman of The Jackson Laboratory Board of Trustees. We are now thrilled to appoint Lon as the next president and CEO of JAX. Under his leadership, Lon will guide the Laboratory as it propels into its next intense period of growth.

Timothy Dattels, vice chairman of The Jackson Laboratory Board of Trustees and chair of the Presidential Search Committee added, As both an accomplished academic researcher as well as a demonstrated successful leader in both pharma and biotech, Lon is extremely well-suited to shape the vision, impact and strategic direction of The Jackson Laboratory over the next decade.

In his new role, Cardon will develop and drive a clear, integrated strategy for the Laboratorys continued long-term success, leveraging the unique and powerful interplay of JAXs deep expertise in mammalian genetics and human genomics combined with the latest advances in digital technologies such as artificial intelligence, machine learning and new computation platforms as well as its research, educational and business strengths.

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For many years there has been immense promise to translate human genetics and genomics discoveries into new diagnostics, prognostics and treatments for both common and rare diseases, said Cardon. Many of the foundational pieces are finally coming into place. The next step is to put them together to begin to realize this promise.

The Jackson Laboratory has a unique combination of critical components to finally approach the long-awaited potential of genetics for translation, coupling deep understanding of mouse models of human disease with extensive genetic and genomics expertise, large-scale research capacity, and computational and data analytics to bring it all together. I am excited to lead the organization to help shape a new era for human health where understanding all of our unique genomes will help to predict, treat and modify the course of disease.

Cardon joined BioMarin in September 2017 as chief scientific officer and senior vice president and was promoted in 2019 to chief scientific strategy officer to enrich BioMarins pipeline. Before joining BioMarin, he was a senior vice president at GlaxoSmithKline, leading departments and divisions spanning genetics, molecular biology, computational biology, statistics and epidemiology, and ultimately leading an early-to-late pipeline division called Alternative Discovery and Development. Prior to Cardons 14-year tenure in industry, he spent the first half of his career as a senior academic in the United Kingdom and United States, initially as professor of Bioinformatics at the University of Oxford and then as professor of Biostatistics at the University of Washington and co-chair of the Herbold Bioinformatics Program at the Fred Hutchinson Cancer Research Center.

Cardon received his Ph.D. from the University of Colorado and conducted his postdoctoral research in the Department of Mathematics at Stanford University. He has been awarded a Wellcome Trust Principal Fellowship and is an elected Fellow of the U.K.s Academy of Medical Sciences and the American Association for the Advancement of Science.

Cardon has authored more than 225 scientific publications and 15 books and chapters, mainly focused on genetics methodology, applications and discoveries for rare and common diseases, ranging from Huntingtons disease to dyslexia. He is an elected Fellow of the UKs Academy of Medical Sciences and the American Association for the Advancement of Science.

About The Jackson Laboratory

The Jackson Laboratory is an independent, nonprofit biomedical research institution with more than 2,400 employees. Headquartered in Bar Harbor, Maine, it has a National Cancer Institute-designated Cancer Center, a genomic medicine institute in Farmington, Conn., and facilities in Ellsworth and Augusta, Maine, in Sacramento, Calif., and Shanghai, China and a joint venture in Beijing. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.

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The Jackson Laboratory appoints Dr. Lon Cardon as its next president and chief executive officer - Yahoo Finance

Theres growing concern about genetic discrimination in New Zealand and the lack of Government intervention in this fast-moving field.

As genetictesting becomes more accessible than ever before, there are calls for a line in the sand to be drawn and a final answer toaquestionnot yet canvassed: should insurers be able to use our geneticinformation?

Genetic discrimination is using someones genetic information to discriminate against them to treat them in a way thats different to someone else because we know something about their genetics.

Currently,lifeand health insurance companies in New Zealand are allowed to use thisdatain determining coverand premiumsfor applicants something experts sayanecdotalevidence suggest hasledto increased premiums, or no cover at all.

While insurers may argue it's their right to know a person's medical history researchers say genetics is, in fact, not a part of one's history, but a part of their future.

There are a lot of complexities in determining someone's genetic makeup and whether they are prone to getting a disease later in life.

There are also ways to mitigate and change the outcome of a patient's health once becoming privy to this information. For example, getting a mastectomywill drastically limit the chances of getting breast cancer, but there are fears an insurer may refuse cover based on a positive BRCA gene test regardless.

University ofOtago law and bioethics lecturerDr Jeanne Snellingsaysif people do have the test,and its positive, they can do things tominimisedevelopment of the disease.

They can undergo surveillance, get prophylactic preventative treatment and their risk could be quite similar to someone elses in the end. But, the insurance company is taking this absolutist approach saying that a positive test disqualifies you from obtaining life insurance cover.

There aredoubts about whether an insurance company would have staff with the expertise on hand to dissect someones genetic information.

University of Aucklands Faculty of Medical and Health Sciences Professor Andrew Shelling says it usually takes acastofspecialists to trawl through the data of an entire persons genome.

Good luck to the insurance company if they can find something, let us know. Because we have an entire team of experts from the clinicians to thebioinformaticiansto the geneticists who sit in a multi-disciplinary clinic each week trying to discuss the outcomes of what theyre looking at.

Based on the increased complexity of genetic testing nowadays, there is also a risk of getting it wrong if you dont have the right expertise. Hesaid.

There'salsoconcernpeople will not opt for undergoing genetic testing purely based on the fact it could be used by insurers -- and thus, miss out on the opportunity to decreasefuturehealth risks.

Despite the life-saving prevention available through genetic testing, experts say people avoiditand research because they are afraid of insurance discrimination.

This not only limits what a person can do to better their health in future -- but stunts medical research, particularly in minority groups like Mori and Pasifika, whose genetics are an even greater enigma to researchers than Pakeha.

Professor Shelling says we know that Mori have been discriminated against for years and this may be another form of it.

We base a lot of our genetics on European DNA, so for our Mori and Pasific people we dont always know what their results mean in a clinical setting.

We have an extra responsibility as genomic scientists to support Mori and Pasific getting genetic testing and make sure they dont get further discriminated against.

In a lot of our research studies around New Zealand, we are trying to increase the number of Mori and Pasific participants.

He fears if they have any concerns about insurance, theyllturn away from being part of these studies.

It's a conflict Jane Tiller anethical, legal and social advisor for Public Health Genomics at Melbournes Monash University --has battled for five years in Australia where a moratorium's been put in place to try and curb the issue.

Now, in Australia, you can get life insurance up to $500,000. If you try and take out more, you have to then disclose your genetic test results. she said.

She says the moratoriums a good step towards consumer protection but its a fraught approach.

"It goes up to certain financial limits and is only five years. So, we dont know what will happen in 2024 when it ends.

We are still gathering data about how its [the moratorium]working. Were remaining concerned about the lack of Government regulations on this issue.We would like to see a complete ban, like in Canada.

The moratorium isalso self-regulated by the insurance industry.

Self-regulation has been shown to be conflicted and problematic, both in Australia and New Zealand.

Theres very little transparency on how insurance companies use this data.Because this is self-regulated, theres a lot of questions around how decisions are made and what data is relied on.

The newly formed AGenDA (Against Genomic Discrimination Aotearoa) group, is lobbying for Government attention on this issue.

AGenDasmessage is that genetic discrimination is not only aconsumer protection issue, but a human rights issue.

Theysay itsnot just about making sure insurers get the information they need todiscriminate; its about stopping them from discriminatingaltogether. Its about ensuring consumers can make decisions about healthcare and learn empowering information without fear of discrimination for themselves or their family members.

They say thesectorhas come to presume divulgence -- an expectation thats been born of our insurance industry over many years.

The Financial Services Councils Richard Kiplin says its not something companies will ask for but if a client has information, it's only fair that they disclose it.

Within the New Zealand sector organisation by organisation will make their own calls. he said.

Whats important for New Zealand consumers to understand is that this is a complex area, and life companies need to assess risk and theyll do that in an appropriate way.

Genetic testing,at this point of time, is not a standard part of that -- but thats obviously evolving and moving very fast.

I think if people have had a genetic test and have information then they know information that a life and health company would want to understand. And so thats a part of the disclosure process.

Kiplin says hes open to working with researchers and other parties in future to solidify guidelines around genetic testing.

We have a robust committee structure thats been looking at some of these issues and reviewing guidelines.

The sector is never static, theres always stuff you can change and this is one of the big areas of the future.Hesaid.

AGenDAis alsoconcerned at the lack of Government intervention.

The Minister of Commerce and Consumer Affairs David Clark points towards the Ministry of Business, Innovation and Employment's Insurance Law Review.

"Insurer use of genetic testing results is one of many issues raised with MBIE during the course of the review, but it was not highlighted as a significant issue in the submissions (it was mentioned in two out of around 500 submissions received). Hesaid.

Clark mirrors the industrys openness to work with experts to understand the situation better.

Im told, the industryhavepreviously told my officials they are not seeing high levels of genetic testing, but I am open to further briefings on the matter.

The MBIEreview was promptedto ensure New Zealands insurance contract law is facilitating insurance markets that work well and enable individuals and businesses to effectively protect themselves against risk.

In November 2019 the Government agreed tothereform which includesmaking sure insurers ask consumers the right questions, the requirement for policies to be written and presented clearly, strengthening protection for consumers against unfair terms and extending powers to the Financial Markets Authority to monitor and enforce compliance.

Next steps for the review include release of an exposure draft Bill for consultation in late-2021.

Genetic testing has been described asa quantum leap for healthcare. A new kind ofapparatuswe can use to decode our future health.

In July 2021,the World Health Organization (WHO) provided the first global recommendations to help establish human genome editing as a tool for public health, with an emphasis on safety, effectiveness and ethics.

While their concerns are mainly based around the use of genetics to edit our DNA --WHO Director-General,Dr Tedros Adhanom Ghebreyesus, recognisedgenome editing and testing as a potential to advance our ability to treat and cure disease.

"But the full impact will only be realized if we deploy it for the benefit of all people, instead of fueling more health inequity between and within countries,Hesaid.

In September, the WHOrecommended DNA testing as a first-choice screening method for cervical cancer prevention.

It recognised DNA-based testing for human papillomavirus (HPV) has been shown to be more effective than todays commonly used screening methods aimed at detecting and preventing cervical cancer, a major cause of death among women worldwide.

Asgenetictestingbecomesmore mainstream,as the technologies mature,and as testsbecome moreprecise and affordable-- it evolves from being aniche offering tobecomingilluminatedon healthcarescentrestage.

And whilegenetictesting is applauded for its potential to become a part of our everyday health toolbox one question remains:should insurers be able to use our genetic information?

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Genetic discrimination: The next great health battle likely to wash up on NZ shores - Newstalk ZB