Category Archives: Genetics

UPDATE – Bionano Genomics Hosts Day 1 of 2022 Symposium with Six Presentations Highlighting the Superior Performance of OGM in Variant Detection for…

SAN DIEGO, Jan. 10, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping (OGM) solutions on the Saphyr system and provider of NxClinical, the leading software solutions for visualization, interpretation and reporting of genomic data, hosted today the first of four days of 2022 Symposium, the Companys premiere event showcasing OGM research applications across key clinical areas of constitutional genetic disease, hematologic malignancies, solid tumors and OGM combined with next-generation sequencing (NGS).

Six presentations from leading researchers across North America and Europe kicked off Symposium. Todays event featured six informative speakers from leading researchers across North America and Europe. These presentations covered a wide range of constitutional genetic diseases in pre- and postnatal genetics and offered insight into potential applications in infertility and reproductive medicine. The presenters supported OGM as an effective alternative to traditional workflows such as karyotype, fluorescent in situ hybridization (FISH), chromosomal microarray (CMA) and Southern blot. Research presentations have demonstrated greater sensitivity, better resolution and faster results from OGM workflows compared to traditional methods.

Performance of OGM evaluated in pre- and postnatal samples. Both Dr. Iqbal from University of Rochester Medical Center and Dr. Shirley Heggarty compared the performance of OGM in the evaluation of pre- and postnatal samples with known chromosomal aberrations. These studies found a high concordance of OGM results compared to traditional methods. In addition, OGM was able to identify both unbalanced structural chromosome abnormalities and balanced structural variants (SVs), like translocations and inversions, that chromosomal microarray (CMA) could not.

Capabilities of OGM to measure repeat expansions were evaluated. Dr. Alexander Hoischen specifically explored the capabilities of OGM to map repeat expansions, which can be particularly challenging types of SVs, in subjects with Canvas syndrome and myotonic dystrophy types 1 and 2. The OGM workflow was able to immediately call very large insertions with greater precision than the standard cytogenetic techniques and with 100% concordance. OGM was shown to allow researchers the ability to see more of the genome, while being less time-consuming and labor-intensive than other molecular methodologies like Southern blotting, as Dr. Nikhil Sahajpal discovered. Results from his validation study were 100% concordant with traditional methods and demonstrated a streamlined laboratory workflow for different sample types.

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The role of OGM as a discovery tool in reproductive disorders including infertility. In addition to pre- and postnatal applications, two speakers, Dr. Laila El-Khattabi and Chaim Jalas, shared how the OGM workflow plays a significant role in their research in infertility and reproductive disorders. In her study, Dr. El-Khattabi used OGM to characterize apparently balanced SVs related to male infertility and identify new genes involved in reproductive disorders. Chaim Jalas shared how OGM used in preimplantation genetic diagnosis can identify structural rearrangements, including balanced translocations and inversions, in embryos prior to transfer, which they indicated could improve pregnancy and delivery rates in an IVF setting.

Among 37 posters appearing in the virtual exhibition hall the top poster per application area selected to compete for best poster of Symposium. In addition to the oral presentations, 37 posters were received and selected for presentation in the virtual exhibition hall. These posters, in the virtual exhibition hall, were voted on by attendees of Symposium and a winner was named in each of four key application areas based on total number of votes. Below are the four poster winners:

Constitutional cytogenomics: Dr. Catherine A. Brownstein, Boston Childrens Hospital

Hematologic malignancies: Dr. Jonathan L. Lhmann, Hannover Medical School

Solid tumors: Dr. Miriam Bornhorst, Childrens National Hospital

OGM + NGS: Dr. Nikhil Sahajpal, Augusta University

Sincere congratulations to our poster winners and thanks to all poster authors for sharing emerging research on OGM from their laboratories, remarked Alka Chaubey, PhD, FACMG, chief medical officer of Bionano. This event is made possible with the enthusiastic participation of the OGM community.

We are thrilled at this strong kick-off to the 2022 Symposium and we are excited about the data shared today by experts from around the world that continues to demonstrate the utility of OGM workflows in variant detection for constitutional genetic diseases, commented Erik Holmlin, PhD, president and chief executive officer of Bionano. Congratulations to the poster winners. We are impressed by all the discoveries our customers are making with OGM towards the goal of elevating human health.

Dont miss Symposium, register now! Symposium registration is open to all and there is no charge for attending this event. Register today at https://www.labroots.com/ms/virtual-event/bngo2022

About Bionano Genomics

Bionano Genomics is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Companys mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. Through its BioDiscovery business, the Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. For more information, visit http://www.bionanogenomics.com, http://www.lineagen.com or http://www.biodiscovery.com.

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the ability for additional data to support the strength of OGM workflows as compared to traditional workflows, the ability and utility of OGM to analyze genomes and reveal answers in genetic disease and cancer research in less time-consuming and less-labor intensive manners than traditional workflows, and the potential for OGM to become part of the standard of care. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape, including the introduction of competitive technologies or improvements in existing technologies; failure of future study results to support those demonstrated during the presentations referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of OGM or our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on managements assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

Media Relations:Michael SullivanSeismic+1 (503) 799-7520michael@teamseismic.com

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UPDATE - Bionano Genomics Hosts Day 1 of 2022 Symposium with Six Presentations Highlighting the Superior Performance of OGM in Variant Detection for...

New Videos from the Genetic Support Foundation Educate Viewers on Hereditary Genes – ThurstonTalk

The Genetic Support Foundation has created educational videos discussing how understanding family genetics is connected to understanding individual cancer risks. In a partnership with Washington State Department of Health, GSF created a series of videos that include personal stories about family cancer connections and a tutorial on how genes work. The videos walk viewers through gene function and hereditary connections by means of narration and easy to follow diagrams. Viewers will find sincere stories and accessible information on a complex topic.

The first of the three new videos, Family Cancer Stories, produced by Sky Bear Media, gives a view into two families personal walks with cancer. The stories exemplify how both sides of a persons family histories matter when it comes to discovering connections between gene mutations and cancer. Sisters Janet Shimabukuro and Eileen Hugdahl share their story as an example of how cancer from their fathers side had a genetic connection to the female cancer they both experienced. Ive never heard that the male cancers can be linked to the female cancers, shares Shimabukuro in the video. I had no idea, and I just wish that somebody would have told me that. The general public just doesnt have that information and just doesnt know, and it could really save lives.

Participating in the video production was important to both Shimabukuro and Hugdahl. I really want the link between male and female hereditary cancers to become common knowledge, says Shimabukuro. Maybe someone famous will learn about it and share it with the world.

I hope these videos will be helpful, explains Katie Stoll, executive director of the Genetic Support Foundation, in raising awareness about hereditary cancer and will encourage people to follow-up with a genetic counselor if they have a family or personal history of cancer. They have been made with the input from experts in the field of public health, genetics and cancer. People merely looking to update their knowledge of how family genes are passed down will find the videos educational and enlightening. People looking for a tool to help explain the topic to a member of their family, will appreciate their design for varied audiences.

Not only does the video explain how genetic screening helps people identify gene mutations but that learning ones specific risks from the results can help pinpoint treatments. If you can catch anything early, explains Hugdahl in the video, the outcome is so much better. You have this information so you can make the decisions. Instead of having cancer make the decision for you, you can choose to make the decisions. Learning information through her sisters cancer experience and genetic screening, Hugdahl was able to make vital, preventative care choices for herself. My breast cancer would have gone undetected, says Hugdahl. I had a clean mammogram just three monthsprior. My doctor ordered an MRI as soon as he learned I was BRCA2 positive. Finding out saved my life. If we can educate anyone, maybe a person with a lot of cancer in their family, they will see three strong women who had different paths who got through it. We put a face to cancer.

Following the first videos narratives of male and female cancer connections, the second in the series, Genetics and Cancer, tackles the inevitable questions about what DNA is and how genes, mutated genes and cancer operate. An easy to follow, animated series of sketches presents a step-by-step explanation of what genes are, how they operate and how the possibility of a mutation can be inherited.

The third in the set of new videos, Cascade Screening, wraps back around to the Cascade Screening service established between GSF and the Washington State Department of Health. This two-minute video gives an overview of the service and how families not only benefit from the test results, but how the service can connect relatives across the state with genetic counseling services in their area. Cascade screening is one of the best tools we have to efficientlyand accurately identify and contactat-risk family members, says Nikki McCoy who also shares her familys story in the first video. Im gratefulthis free service is available to people in Washington. To use a popular termin the hereditary cancer riskcommunity,knowledge is power,and this video helps spread that knowledge.

The series of three videos carries a wealth of information in a short time frame and is delivered with heartfelt messages. Please talk about your family health history, expresses Shimabukuro. Be open and share. While none of us wants to know we are high risk, that information is highly valuable to a family because early detection is key.

GSF is a nonprofit genetic counseling service assisting people with interpreting DNA test results. Whether the results came from an online company or were the result of testing suggested by a primary care provider after a diagnosis, GSF helps people take that information and map out their family history. The goal is to provide people with a better understanding of how their family history may play a part in their individual diagnosis. A better understanding means being able to make more direct choices in preventative measures or specific treatments.

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New Videos from the Genetic Support Foundation Educate Viewers on Hereditary Genes - ThurstonTalk

Why do we love sugar so much? Here is a genetic connection to your sweet addiction – Economic Times

The sweetness of sugar is one of life's great pleasures. People's love for sweet is so visceral, food companies lure consumers to their products by adding sugar to almost everything they make: yogurt, ketchup, fruit snacks, breakfast cereals and even supposed health foods like granola bars.

Schoolchildren learn as early as kindergarten that sweet treats belong in the smallest tip of the food pyramid, and adults learn from the media about sugar's role in unwanted weight gain. It's hard to imagine a greater disconnect between a powerful attraction to something and a rational disdain for it. How did people end up in this predicament?

Insights into our species' evolutionary history can provide important clues about why it's so hard to say no to sweet.

The basic activities of day-to-day life, such as raising the young, finding shelter and securing enough food, all required energy in the form of calories. Individuals more proficient at garnering calories tended to be more successful at all these tasks. They survived longer and had more surviving children - they had greater fitness, in evolutionary terms.

One contributor to success was how good they were at foraging. Being able to detect sweet things - sugars - could give someone a big leg up.

In nature, sweetness signals the presence of sugars, an excellent source of calories. So foragers able to perceive sweetness could detect whether sugar was present in potential foods, especially plants, and how much.

This ability allowed them to assess calorie content with a quick taste before investing a lot of effort in gathering, processing and eating the items. Detecting sweetness helped early humans gather plenty of calories with less effort. Rather than browsing randomly, they could target their efforts, improving their evolutionary success.

Sweet taste genesEvidence of sugar detection's vital importance can be found at the most fundamental level of biology, the gene. Your ability to perceive sweetness isn't incidental; it is etched in your body's genetic blueprints. Here's how this sense works.

Sweet perception begins in taste buds, clusters of cells nestled barely beneath the surface of the tongue. They're exposed to the inside of the mouth via small openings called taste pores.

Different subtypes of cells within taste buds are each responsive to a particular taste quality: sour, salty, savory, bitter or sweet. The subtypes produce receptor proteins corresponding to their taste qualities, which sense the chemical makeup of foods as they pass by in the mouth.

One subtype produces bitter receptor proteins, which respond to toxic substances. Another produces savory (also called umami) receptor proteins, which sense amino acids, the building blocks of proteins. Sweet-detecting cells produce a receptor protein called TAS1R2/3, which detects sugars. When it does, it sends a neural signal to the brain for processing. This message is how you perceive the sweetness in a food you've eaten.

Genes encode the instructions for how to make every protein in the body. The sugar-detecting receptor protein TAS1R2/3 is encoded by a pair of genes on chromosome 1 of the human genome, conveniently named TAS1R2 and TAS1R3.

Comparisons with other species reveal just how deeply sweet perception is embedded in human beings. The TAS1R2 and TAS1R3 genes aren't only found in humans - most other vertebrates have them, too. They're found in monkeys, cattle, rodents, dogs, bats, lizards, pandas, fish and myriad other animals. The two genes have been in place for hundreds of millions of years of evolution, ready for the first human species to inherit.

Geneticists have long known that genes with important functions are kept intact by natural selection, while genes without a vital job tend to decay and sometimes disappear completely as species evolve. Scientists think about this as the use-it-or-lose-it theory of evolutionary genetics. The presence of the TAS1R1 and TAS2R2 genes across so many species testifies to the advantages sweet taste has provided for eons.

The use-it-or-lose-it theory also explains the remarkable discovery that animal species that don't encounter sugars in their typical diets have lost their ability to perceive it. For example, many carnivores, who benefit little from perceiving sugars, harbor only broken-down relics of TAS1R2.

Sweet taste liking

The body's sensory systems detect myriad aspects of the environment, from light to heat to smell, but we aren't attracted to all of them the way we are to sweetness.

A perfect example is another taste, bitterness. Unlike sweet receptors, which detect desirable substances in foods, bitter receptors detect undesirable ones: toxins. And the brain responds appropriately. While sweet taste tells you to keep eating, bitter taste tells you to spit things out. This makes evolutionary sense.

So while your tongue detects tastes, it is your brain that decides how you should respond. If responses to a particular sensation are consistently advantageous across generations, natural selection fixes them in place and they become instincts.

Such is the case with bitter taste. Newborns don't need to be taught to dislike bitterness - they reject it instinctively. The opposite holds for sugars. Experiment after experiment finds the same thing: People are attracted to sugar from the moment they're born. These responses can be shaped by later learning, but they remain at the core of human behavior.

Sweetness in humans' futureAnyone who decides they want to reduce their sugar consumption is up against millions of years of evolutionary pressure to find and consume it. People in the developed world now live in an environment where society produces more sweet, refined sugars than can possibly be eaten.

There is a destructive mismatch between the evolved drive to consume sugar, current access to it and the human body's responses to it. In a way, we are victims of our own success.

The attraction to sweetness is so relentless that it has been called an addiction comparable to nicotine dependence - itself notoriously difficult to overcome.

It is worse than that. From a physiological standpoint, nicotine is an unwanted outsider to our bodies. People desire it because it plays tricks on the brain. In contrast, the desire for sugar has been in place and genetically encoded for eons because it provided fundamental fitness advantages, the ultimate evolutionary currency.

Sugar isn't tricking you; you are responding precisely as programmed by natural selection.

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Why do we love sugar so much? Here is a genetic connection to your sweet addiction - Economic Times

How Africa’s genetic diversity can be harnessed to close the continent’s ‘drug and treatment gap’ – Genetic Literacy Project

I have begged to just die.

Those were the words of Sadeh Sophia, a sickle cell disease patient. Although living in the UK, she suffers from the genetic blood disorder that primarily targets Africans, SCD globally affects 25 million people, mostly in equatorial countries across Africa, the Middle East and Asia. The World Health Organization reckons that circa 300, 000 people are born with sickle cell disease. There is no cure.

Sub-Saharan Africa is the diseases epicenter. As many as 40% of the population in some African countries carry the trait. About 1,000 children in Africa are born with SCD every day, and more than half will die before they reach 5 years old.

Yet, the African genome, which could yield critical clues to the development of life-saving malaria drugs and medical treatments, has been vastly understudied. How can this be changed?

The diseases affecting Africans differ significantly in severity, scope and distribution from those that affect inhabitants of other regions. These are due to a variety of factors, including genetics, economic development, political stability and even cultural norms. One example of such a disease is polio which was endemic in Nigeria, Afghanistan, parts of Asia and most countries in Africa (presently, Pakistan and Afghanistan are the only polio-endemic countries).

Malaria, transmitted by the Anopheles mosquito, which disproportionately affects Africans, is largely linked to geographical location, hygiene conditions and economic development. It claims the life of a sub-Saharan African child every two minutes. The haemoglobinopathies and sickle cell trait (HbAS) confers protection from the lethal manifestation of malaria. The vital aspect is the mutation that causes sickle cell disease which leads to a 90% risk reduction of severe Plasmodium falciparum malaria across sub-Saharan Africa.

Africa has the fastest growing and youngest population in the world, with more than 1.14 billion people. Its also the worlds poorest region, According to current population trends, with its most populous country, Nigeria, known as the worlds poverty headquarters. Although the need for advanced drugs is critical, the government and the people are too poor to afford them in the quantities necessary to make a dent in the problem. No wonder many drug makers do not consider the continent when investing in new drug development.

Advances in genetics are opening the door to addressing the African drug desert. Starting about 100,000 years ago, humans began migrating out of Africa, kick-starting a mass exodus to other parts of the world (pre-humans made their way out millions of years earlier). Today, most non-Africans trace their ancestry to their forbears in Africa. The reason why humans emigrated from the continent is not disconnected from the basic human behaviour of moving in search of resources: land, food and water became scarce as the climate changed. According to researchers who have studied various modes of migration movements, humans emigrated based on those universal needs.

The Human Genome Project, initiated in 1991 and completed 13 years later, aimed to map out the entire set of human genes to provide the world with information on the basic set of heritable factors required for the development and functioning of humans. Its been a boon to medical research and drug development. However, a focus on populations in wealthier countries has led to a lack of proper understanding of health issues that affect poor nations, most of which are in sub-Saharan Africa. Less than 2% of human genomes analysed so far have been African, notwithstanding the fact that Africa, where modern humans emerge, harbours more genetic diversity than any other continent.

Previous genomic sequencing projects have not completely captured the immense level of diversity that exists within populations throughout the region. In a bid to further unravel Africas genetic diversity, scientists from the African Society of Human Genetics, the US National Institutes of Health (NIH) and the Wellcome Trust (WT) formed a consortium that led to the founding of what is known as Human Heredity and Health in Africa (H3Africa), which seeks to understand disease susceptibility and how it affects drug responses amongst the African populace. It focused on common, non-communicable disorders such as sickle cell and heart disease, as well as communicable diseases such as tuberculosis.

H3Africa has led to the creation of biorepositories, investigation of non-communicable diseases affecting Africans and training of the next generation of bioinformaticians. Its potential to address diseases disproportionately affecting Africans is enormous.

But there are also tangible benefits to the rest of the world. One of the great mysteries of the current pandemic is why sub-Saharan Africa has emerged as a cold spot for serious COVID despite a fractured and overwhelmed medical infrastructure. Such an initiative could explain the genetic diversity and composition of sub-Saharan Africans who were less impacted from the lethal outcomes of the coronaviruscritical information about human genetic differences that could lead to the development of future treatments for non-African populations as well..

Drug discovery and development is a long, cumbersome, risky and expensive process. Recent studies show that the estimated cost for discovering and developing a drug from laboratory benches to shelves is circa $2.6 billion and rising. As an example, in cancer research, greater than 95% of drug candidates do not successfully pass the testing phases. The industry relies on blockbuster drugs revenues to fuel research future treatments and/or cures. The economics behind this model incentivizes industry players to research diseases that afflict richer nations as opposed to those which burden poorer countries. Thus, this model has seen poorer countries diseases under-studied, which leads to fewer drugs treating ailments that beset their citizens. While some pharmaceutical companies compete in doing good by donating medicines or sub-licensing them to generic firms, this altruism does not address the lack of effective medicines against infirmities that disproportionately affect the poor, the vast majority domiciled in sub-Saharan Africa.

Developing the research capacity of low- and middle-income countries (LMICs) is therefore criticalone of the main impetuses for H3Africa. Wealth is the fundamental driver of drug development, but there is a limit to which poor countries can fund basic medical research. In the US, cystic fibrosis enjoys a 75-fold upper hand in charitable funding for research compared to sickle cell disease, partly because the bulk of the SCD patients live in other regions.

But as more Africans emigrate out of the continent for greener pastures, there has been a rise in diseases common to Africa that are showing up elsewhere. Thus, it behooves philanthropists, especially those of African descent, to donate to research studies that aid in ameliorating the under-study of ailments that affect them. Now one-sixth of the people on Earth, based on current demographic trends, Africa will likely be the home to one-in-three people by 2021, thus implying a significant segment of the worlds populace will be bereft of life-saving drugs.

There is a limit to providing solutions for diseases that disproportionately burden Africans, especially those south of the Sahara Desert, by just conducting studies and collating results. Although the African Genome Project contributes greatly by outlining in depth the genomes of Africans, it does little to address the specific issue of the dearth of medicines for maladies that afflict inhabitants in the sub-region.

Researchers involved in the H3Africa understandably want to ensure that African countries retain the control of the treatments developed. There are concerns about data theft, histories of mistrusts and secrecy regarding the use of such data and samples. But it is also important that pharmaceutical companies and entrepreneurs, regardless of nationality and race, have access to the data to aid in drug development. It would be akin to throwing the baby with the bathwater to not allow access to refine treatments and help develop manufacturing and distribution capacity.

Fortunately, many companies are now entering the space, such as 54Gene, Africas top DNA research start-up, which has received venture capital of more than $45 million since its founding. Efforts are aimed at not just collating samples but developing a pipeline of drugs for conditions that afflict sufferers. Such initiatives will ensure that the genetic diversity of Africans will contribute significantly to drug discovery and development.

Uchechi Moses is an aspiring plant biotechnologist based in Akwa Ibom, Nigeria. He holds a BS in Genetics and Biotechnology and writes about how capitalism and science can provide food security and prosperity for the next generation of Africans. Follow him on Twitter @UchechiMoses_

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How Africa's genetic diversity can be harnessed to close the continent's 'drug and treatment gap' - Genetic Literacy Project

Helping sheep and goat farmers improve productivity and increase supply with a new genetic services system – Yahoo Finance

Helping sheep and goat farmers improve productivity and increase supply with a new genetic services system

Canada NewsWire

OTTAWA, ON, Jan. 7, 2022

OTTAWA, ON, Jan. 7, 2022 /CNW/ - Today, the Minister of Agriculture and Agri-Food, the Honourable Marie-Claude Bibeau, announced an investment of $495,000 for the Canadian Centre for Swine Improvement (CCSI) to enable stakeholders to work together to increase innovation and resiliency in Canada's sheep and goat industries.

Through this investment, CCSI is collaborating with project partners on developing a Canada-wide integrated genetic services system to help sheep and goat farmers improve productivity and increase supply. Farmers will be able to use the new service system to access new developments and industry information on livestock genomics that can improve breeding and provide a more sustainable supply of high quality products along the sheep and goat value chains.

CCSI is working with a number of partners to integrate genetic services, including the Canadian Sheep Breeders Association, Ontario Sheep Farmers, the Canadian Goat Society, Canadian Livestock Records Corporation, Centre for Genetic Improvement of Livestock, Centre d'expertise en production ovine du Qubec, AgSights, and the Canadian Meat Goat Association. The integrated system will include services such as phenotype measurements on traits such as growth rate and milk yield, training for farmers to adopt new technologies, genetic evaluation, and research and development.

Canada's sheep and goat industries offer many growth opportunities for farmers across several agricultural sectors, including meat, dairy and fibre. Increasing industry collaboration in areas such as genetic services will benefit farmers with improved breeding stock to develop a more adaptable, competitive industry.

Quotes

"Canada has a strong reputation as a leader in livestock genetics and breeding. This investment will enable sheep and goat farmers to benefit from new developments in livestock genetics and improve product quality and productivity."

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- The Honourable Marie-Claude Bibeau, Minister of Agriculture and Agri-Food

"Better integration of services will enhance these organizations' abilities to deliver on their respective breed improvement mandates, while the breeders and commercial producers will benefit from improved genetics. This will also lead to a more sustainable supply of high quality inputs for other stakeholders in the sheep and goat product value chains."

- Brian Sullivan, Chief Executive Officer, Canadian Centre for Swine Improvement

Quick Facts

The funding announced today is provided through the Canadian Agricultural Strategic Priorities Program (CASPP), a $50.3 million, five-year investment to help the agricultural sector adapt and remain competitive.

The Canadian Centre for Swine Improvement is a national not-for-profit corporation that provides leadership, innovation and coordination in national genetic evaluations, database establishment and maintenance, program standards and research and development for industries such as pork, goats and sheep.

There are more than 1.2 million head of sheep and goats in Canada on approximately 15,000 farms (2016 Census of Agriculture), with over $250 million of farm cash receipts, which in 2020 had a combined annual revenue of more than $263 million. Potential for growth is large and illustrated by the fact that the number of goats has more than doubled in the last 30 years.

Additional Links

Canadian Agricultural Strategic Priorities ProgramCanadian Centre for Swine Improvement

Follow us on Twitter, Facebook, Instagram, and LinkedInWeb: Agriculture and Agri-Food Canada

SOURCE Agriculture and Agri-Food Canada

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Helping sheep and goat farmers improve productivity and increase supply with a new genetic services system - Yahoo Finance

Coronavirus: Conflicting tests on two AEK players to be settled by genetics institute – Cyprus Mail

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Coronavirus: Conflicting tests on two AEK players to be settled by genetics institute - Cyprus Mail

The genetic lottery: Are our lives determined at birth? – New Zealand Herald

A controversial new book suggests that our success or failure in life is hard-coded in our genes at conception. By Danyl McLauchlan.

It's deeply unfair. Shortly after we're conceived, our genetic material long sequences of chemical codes arranged in a double-helical structure called DNA, tightly bundled into dense thread-like structures called chromosomes is uncoiled and scanned by complex factories of molecular machinery.

These factories use our genes as blueprints for turning a tiny, fertilised egg into a fully grown human, assembling proteins into cells, cells into organs, organs into anatomical systems digestive, muscular, cardiovascular, nervous that allow us to eat, walk, breathe and think. But we have no control over which genes we get, or the type of person they turn us into.

Each of us is genetically unique. We inherit our DNA from our parents, but in each sperm or egg the genetic sequences are recombined, shuffled around, mixed up. Which is why each of us resembles the other members of our family, but none of us is identical to them (even identical twins have minor genetic differences). If two people were able to produce kids carrying every possible combination of their genotypes, they'd have 70 trillion children.

We like to tell ourselves that we're all equal, despite our vast, randomly generated genetic diversity that life is about the choices we make or the world we're born into. These assumptions carry over into our politics. On the right, success or failure is considered meritocratic: people should have equality of opportunity but then take personal responsibility for themselves and work hard to get ahead. Left-wing politics focuses on social or economic injustice: income inequality, exploitation, discrimination. But in the first decades of the 21st century, new findings in the field of behavioural genetics call the premises behind both political projects into question.

Kathryn Paige Harden is a psychologist and behavioural geneticist at the University of Texas. In 2021, she became one of the most controversial scientists in the world when she published her first book, The Genetic Lottery. In it, Harden argues that genes matter. A lot. Social scientists have long known that family income is a strong predictor of educational attainment: if you grow up in a wealthy household, you're more likely to get a degree and a well-paid job. But what Harden is saying is that genetics are just as decisive that an important part of our success or failure is hard-coded at birth.

The sum total of all your DNA across all of your chromosomes is known as your genome. The first human genome was sequenced back in 2003, a 13-year project that cost more than a billion dollars. Today, a whole genome sequence costs about $1000 and takes 24 hours to produce. However, most labs doing behavioural research use a cheaper technique that looks for a known collection of genetic markers. This costs about $100.

There's a gene on your fourth-largest chromosome, called the huntingtin gene. It tells your cells how to create a protein that plays a role in building subcellular structures, especially in the brain. If you have a specific mutation in this gene, you're doomed to develop Huntington's chorea, a terrible neurodegenerative condition that strikes in adulthood. (When biology and medical students first learn about the gene, they worry that they might have this mutation, but if you're a member of one of the rare families that are stricken by the disease, you'll already be very aware of it.)

For a long time, genetics researchers thought that all genes worked like the huntingtin gene, in the sense that it coded for a specific protein, and a mutation caused a specific disorder. So they went in search of other monocausal genes; they looked for drug-addiction genes, depression genes, height genes, cancer genes, gay genes, criminal genes, and schizophrenia genes. Rather embarrassingly, they often announced that they'd found them.

But in 2007, the first large-scale genome-wide association study (GWAS) was published, and it revealed that most genes and gene variants were totally unlike the huntingtin model, and that none of these "depression genes" or "criminal genes" had any scientific validity.

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GWAS is a suite of statistical tools: it works by comparing huge numbers of individual genomes the first studies used 10,000 people, now they're into the millions to look for differences in life outcomes. Which individuals have heart disease or cancer? How tall are they? What's their highest educational qualification? What's their household income? Researchers then use high-performance computers and sophisticated algorithms to find genes that correlate with those outcomes.

The results show us that most gene effects are tiny a variation in a single gene usually has a minimal impact, and almost all genetic effects are "polygenic", meaning they're the combination of many genes working together.

Instead of a single gene for height, there are about 700 gene variants involved, influencing everything from growth hormones to bone length. GWAS reveals that most genetic diseases or inherited traits are staggeringly complex. Even something as seemingly simple as hair colour is influenced by more than 100 different genes interacting with each other.

Because GWAS is such a powerful technique, it has been taken up by researchers across the life and social sciences. And they're uncovering the genetic origins of thousands of diseases and conditions.

You can look at the health outcomes, hair colour or height of the people in your study and correlate them to which variants they have. And you can calculate a polygenic score in which you add up all the effects of all the gene variants and estimate the likelihood that an individual will have the trait you're investigating that they'll be short or tall, have red hair or be prone to heart disease.

At the heart of Harden's argument in The Genetic Lottery is the claim that academic success in modern educational systems is innate that it's less to do with determination or grit and more like tallness or hair colour. "There are specific types of cognitive skills that are richly rewarded in modern educational systems: the verbal and visuospatial reasoning abilities that are tested by standardised cognitive tests," says Harden. And gene variations and combinations that correlate to those abilities show up in the GWAS results. "Beyond that, we see genes associated with personality traits, such as delay of gratification and openness to new experience, are also associated with going further in school."

When Harden was 22, her boyfriend at the time was a history PhD student, and for her birthday he gave her a copy of Daniel Kevles' horrifying historical study, In the Name of Eugenics. "Not the most romantic present I've ever gotten," she admits, "but certainly one of the most durably influential." So, she gets why people are so sensitive to this conversation: statistics and genetics share a very sinister past. People are right to be apprehensive.

But first, she counters, the way eugenicists and white supremacists talk about race is scientifically incoherent. Humans are a very promiscuous species; none of us are descended from one single group of people. Recent research estimates that the most recent common ancestor of every person currently alive probably lived in East Asia a few thousand years ago. We have superficial differences facial features such as the colour of our skin, eyes and hair based on where the majority of our recent ancestors are from, but we're all fairly recent relatives. "Ironically," Harden says, "genetic data help us see why modern 'race science' is actually pseudoscience."

Second, it's very hard to make racial comparisons with GWAS. This is partly because the biological markers don't line up properly across different ethnic groups and these mismatches confound the analysis. But it's also because the genomes currently available for GWAS analysis are mostly from white people. "I think it's helpful to step back and think about where the data in large-scale genetic studies of education are coming from," says Harden. "The biggest sources are European-ancestry participants from [genetic testing company] 23andMe and the UK Biobank. This is a very particular segment of the American and British populations people who are likely to be racially identified as white and who went to school in the UK and the US in the latter half of the 20th century. The genetic data does give us some clues about what sorts of traits are rewarded by the educational system for this segment of the population."

Third, Harden asks, if there's a cluster of genes that reward educational attainment, at least among people with recent European ancestry, and those people get good qualifications and access to well-paid high-status jobs how is that fair? None of us choose the genes we're born with. It is, quite literally, a lottery. "There is no measure of so-called 'merit' that is somehow free of genetic influence or untethered from biology," she says.

Instead of accepting the outcome of genetic meritocracy, she challenges us in the book with the assumption that a meritocratic society is moral. Shouldn't we be asking ourselves why our education system and labour markets allocate success and status to such a narrow set of attributes and punish others?

When it comes to genetic discrimination and how to address it, Harden says two things that school systems seem to be selecting against are ADHD symptoms and early fertility. "Making schools more inclusive and supportive of children who feel the need to move their body constantly, and of teenagers and young adults who have care responsibilities, would change the pattern of what genes are associated with getting more education."

In 1973, psychologists at the University of Otago began studying the lives of 1037 babies born between April 1, 1972 and March 31, 1973 at Dunedin's Queen Mary Maternity Hospital. In what is known as the Dunedin Study, researchers survey the participants at regular intervals, conducting interviews, physical tests, blood tests and even dental examinations. The Dunedin Study has been running for nearly 50 years and is one of the most respected longitudinal studies in the world.

In 2016, the journal Psychological Science published a paper in which the genomes of 918 non-Mori Dunedin Study participants were subjected to GWAS analysis for educational attainment. And they reported a number of key findings: educational attainment polygenic scores also predicted adult economic outcomes, such as how wealthy the subjects became; genes and environments were correlated in that children with higher polygenic scores were born into better-off homes; children with higher polygenic scores were more upwardly mobile than children with lower scores; polygenic scores predicted behaviour across the life course, from early acquisition of speech and reading skills through to geographic mobility and mate choice and on to financial planning for retirement; polygenic-score associations were mediated by psychological characteristics, including intelligence, self-control and interpersonal skill.

What they found was that children with gene-variant combinations that correlated with educational attainment were more likely to say their first words at younger ages, learn to read at younger ages and have higher aspirations as high school students. All of which sounds like a massive validation of Harden's thesis. But Professor Richie Poulton, a co-author of the paper and director of the Dunedin Study since 2000, cautions strongly against linking these findings to Harden's conclusions.

"A key point, often missed," he says, "is the genetic effects were small. A lot of hot air has been expended without acknowledging this very critical and basic fact. [Genes] are not huge influences by themselves: it's nature-nurture interplay that accounts for the most important outcomes. That's where the real gold (versus fool's gold) lies in understanding how people's lives turn out."

The same point is made by the University of Auckland's Sir Peter Gluckman, an internationally recognised expert in child development. For him, the problem with Harden's approach is that "there's no discussion of developmental plasticity. There's no doubt that genes influence behaviour. We know that genetic associations with educational achievement are very real.

"But we also know a lot of those mechanisms are very indirect. And we know that environmental influences, starting from before birth and acting right through childhood have the biggest outcomes. Take the famous experiment on the cat."

Gluckman is referring to the Harvard "pirate kitten experiment", an influential experiment in the 1960s that biology lecturers still like to shock their undergraduate students with. It involved suturing a kitten's eye closed for the first three months of its life. When the sutures were removed, the kitten was blind in that eye because the animal's brain didn't develop the ability to process data from it. "Yes, we have genes that determine eye growth," says Gluckman, "but if we don't use the eye properly in the first few months after birth, then those genes don't work properly. And at the end of the day, what we can affect is the environment."

Poulton agrees that it's far too early to talk about policy solutions based on behavioural genetics. "The understanding of how you would do this and what you would focus on is far too primitive. But you can focus on some of the 'environmental' factors that mediate the genetic effects Self-regulation abilities play a role here, and trying to strengthen those skills among all young people would have benefits."

Harden acknowledges that environmental factors are hugely important. And she believes that the effect sizes for educational attainment polygenic scores will only increase as the datasets grow and the genomic information becomes more fine-grained. But she doesn't believe you can talk about proper educational intervention without discussing genetics. She points out that most current educational interventions have almost no effect on student outcomes, no matter how well funded they are. "Not talking about genetics means sticking with the status quo," she says.

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The genetic lottery: Are our lives determined at birth? - New Zealand Herald

Unlocking the genetic code of congenital heart disease – Cosmos Magazine

One in every 100 babies is born with a congenital heart disease (CHD), which is a major cause of death in newborns. Despite this, the genetics of the disease are not well understood, which hinders accurate prenatal genetic testing.

Now, researchers from Monash University have uncovered more than 1,300 genes that are linked to CHD, included some that were previously unknown. This may help improve prenatal genetic testing for foetuses.

[Previous methods] focused on screening genes that are present in the heart only an approach that often overlooks genes that are present in other tissues as well, despite still playing important roles in heart development, says Dr Hieu Nim from Australian Regenerative Medicine Institute, the first author of the study, published in Genome Biology, the team expanded the repertoire of genes that are potentially at play in heart development and/or CHD.

These could comprise many of the missing congenital heart disease genes, but have been, to date, discounted because they are not unique to the heart, says Associate Professor Mirana Ramialison, also of Monash Universitys Australian Regenerative Medicine Institute and the Murdoch Childrens Research Institute.

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Once the gene repertoire had been identified, the team used the fruit fly a well-established model organism in biology to determine the impact of the novel genes. This is because 75% of the disease-causing genes in humans are also found in a similar form in the fruit fly, so we can get a quick snapshot of the consequences of mutated genes.

The fruit fly experiments revealed a long list of high-quality candidate genes for causing heart abnormalities in humans, giving real insight into just how susceptible this organ is to genetic mutations, says Dr Travis Johnson from Monash Universitys School of Biological Sciences.

Understanding genetic screening and disease is incredibly complex, so Johnson cautions that the new information isnt ready for use yet in prenatal genetic screening for CHD.

We now need to conduct functional studies on all of these genes in animal experiments to determine what they actually do, so its early days, he explains. But we now have an excellent starting point.

Theres never been a more important time to explain the facts, cherish evidence-based knowledge and to showcase the latest scientific, technological and engineering breakthroughs. Cosmos is published by The Royal Institution of Australia, a charity dedicated to connecting people with the world of science. Financial contributions, however big or small, help us provide access to trusted science information at a time when the world needs it most. Please support us by making a donation or purchasing a subscription today.

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Unlocking the genetic code of congenital heart disease - Cosmos Magazine

Predictive Genetic Testing and Consumer/Wellness Genomics Market Analysis and Forecast to 2025 – BioSpace

Predictive genetic testing are used to identify gene mutations pertaining to the disorders that surface at a considerably later stage in life after birth. These tests are particularly beneficial for people from a family with a history of genetic disorder, although they themselves show no symptoms of the disorder at the time of testing. Genetic testing promises to revolutionize the healthcare sector, providing crucial diagnostic details related to diverse verticals such as heart disease, autism, and cancer. As the healthcare sector touches new peaks, the global predictive genetic testing and consumer/wellness genomics market is projected to expand at a healthy growth rate during the forecast period of 2017 to 2025.

This report on the global market for predictive genetic testing and consumer/wellness genomics analyzes all the important factors that may influence the demand in the near future and forecasts the condition of the market until 2025. It has been created using proven research methodologies such as SWOT analysis and Porters five forces. One of the key aspect of the report is the section on company profiles, wherein several leading players have been estimated for their market share and analyzed for their geographical presence, product portfolio, and recent strategic developments such as mergers, acquisitions, and collaborations.

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The global predictive genetic testing and consumer/wellness genomics market, on the basis of test type, can be segmented into predictive testing, consumer genomics, and wellness genetics. The segment of predictive testing can be sub-segmented into genetic susceptibility test, predictive diagnostics, and population screening programs, whereas the segment of wellness genetics can be further divided into nutria genetics, skin and metabolism genetics, and others. By application, the market can be segmented into breast and ovarian cancer screening, cardiovascular screening, diabetic screening and monitoring, colon cancer screening, Parkinsons or Alzheimers disease, urologic screening or prostate cancer screening, orthopedic and musculoskeletal screening, and other cancer screening. Geographically, the report studies the opportunities available in regions such as Asia Pacific, Europe, North America, and the Middle East and Africa.

Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Trends and Opportunities

Increasing number of novel partnership models, rapidly decreasing cost of genetic sequencing, and introduction of fragmented point-solutions across the genomics value chain as well as technological advancements in cloud computing and data integration are some of the key factors driving the market. On the other hand, the absence of well-defined regulatory framework, low adoption rate, and ethical concerns regarding the implementation, are expected to hinder the growth rate during the forecast period. Each of these factors have been analyzed in the report and their respective impacts have been anticipated.

Currently, the segment of predictive genetic cardiovascular screening accounts for the maximum demand, and increased investments in the field is expected to maintain it as most lucrative segment. On the other hand, more than 70 companies are currently engaged in nutrigenomics, which is expected to further expand the market.

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Global Predictive Genetic Testing and Consumer/Wellness Genomics Market: Regional Outlook

Owing to robust healthcare infrastructure, prevalence of cardiovascular diseases, and high adoptability rate of new technology makes North America the most lucrative region, with most of the demand coming from the country of the U.S. and Canada. Several U.S. companies hold patents, which further extends the outreach of the market in the region of North America.

Companies mentioned in the research report

23andMe, Inc, BGI, Genesis Genetics, Illumina, Inc, Myriad Genetics, Inc, Pathway Genomics, Color Genomics Inc., and ARUP Laboratories are some of the key companies currently operating in global predictive genetic testing and consumer/wellness genomics market. Various forms of strategic partnerships with operating company and smaller vendors with novel ideas helps these leading players maintain their position in the market.

TMR Research is a leader in developing well-researched reports. The expertise of the researchers at TMR Research makes the report stand out from others. TMR Research reports help the stakeholders and CXOs make impactful decisions through a unique blend of innovation and analytical thinking. The use of innovation and analytical thinking while structuring a report assures complete and ideal information of the current status of the market to the stakeholders.

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Predictive Genetic Testing and Consumer/Wellness Genomics Market Analysis and Forecast to 2025 - BioSpace