Category Archives: Genetics

Direct-to-consumer home genetic kits allowed startups like 23andMe to offer health and ancestry insights at an affordable cost. Now, similar tech is coming to pets.

Itll help vets, breeders and pet parents to verify parentage and breed, diagnose diseases and plan for future health risks.

Everything we have seen happening in humans, in terms of predictive and personalised medicine and genetics-based diagnostics, has migrated into the pet space, says Sergey Jakimov, founding partner of LongeVC, a European VC fund that focuses on early-stage biotech and longevity. This is super exciting because pets, as living beings, have equalised themselves in importance in terms of how much money and attention is spent on their longevity, and in disease diagnostics and prevention.

Its not the first time human health innovation has come to the animal world US-based Signal Pet, for example, provides artificial intelligence-based radiology but animal genetics could be big business.

Animal genetics market revenue is predicted to exceed $6.4bn by 2027, up from $99m in 2020. Sifted dug into the sector and found the startups to watch and the VCs watching them.

Feragen, an Austria-based pet genetics startup, sees the vet sector as a growth engine for its business. It wants to move from diagnostics, where such tools are common, into disease prevention.

Puppies are more like family members

We want to push the prevention angle. What can we learn from genetics to create a life plan for a dog? says Anja Geretschlger, founder and CEO. Pet parents are becoming more interested in understanding the risk of diseases that might come when the pet is five or six, so they are more prepared when the symptoms show up.

Michael Geretschlger, Anjas husband and collaborator, says preventive health is getting more [attention] as puppies are more like family members. Anja Geretschlger adds that genetic insights are valuable for breeders in the era of designer dogs.

This is because cross-breeding can lead to health complications, such as labradoodles developing skin problems due to different fur structures between labradors and poodles.

Another European player is Germany-based Generatio, which provides genetic testing for animal owners, vets and breeders.

Theres also UK-based AffinityDNA, acquired in May by Australian diagnostics company Genetic Technologies, which provides animal testing for allergies and intolerances, paternity testing and direct-to-consumer (DTC) genetic tests from companies like Embark, Wisdom Panel and BasePaws.

Genetic Technologies portfolio includes General Genetics Corporation and associated brand EasyDNA, which offers UK pet owners breed composition tests, disease susceptibility tests for dogs, and feline and equine offerings.

European VCs are also interested in startups across the pond. Garri Zmudze, a Latvian biotech angel investor and founder of Switzerland-based LongeVC, investedin Basepaws, the American cat genetics company recently acquired by Zoetis, an animal medicines and vaccinations company.

Basepaws plans to expand into the veterinary portfolio of genetic, oral and microbiome screening tools for disease risk, screening 64 feline health markers and over 210 canine health markers.

For some, the pet genetics space is not just a play on the pet market but could inform human health and longevity science. Some diseases are rare in humans but are common in certain breeds of pets, who are useful for studies into genetic disease origins.

There is a tight connection between humans and animals and we can learn from both, says Anja Geretschlger.

Zmudzes investment in Basepaws, for instance, was not a pet consumer market bet at all. Instead it was aligned with his interest in human longevity, given the genetic overlaps between animals and humans in diseases like cancer and some neurodegenerative conditions.

There is a tight connection between humans and animals and we can learn from both

These overlaps are the reason we have animal models in clinical trials, because the metabolic processes are translatable, says Jakimov. There are tonnes of matches.

Matt Kaeberlein, professor of laboratory medicine and pathology at the University of Washington School of Medicine and head of the dog ageing project, a world-leading biological study of ageing in dogs, sits on the LongeVC advisory board, alongside executives from European pharmaceutical giants Roche and Novartis. And Zmudze was also an investor in Insilico Medicine, an AI drug discovery unicorn.

As home to many of the worlds top pharmaceutical companies, Europe could be a major player in longevity research. Switzerland is developing a Longevity Valley initiative, Bristol Myers Squibb and Merck are major investors in cancer immunotherapies and the pharma industry is investing in early stage longevity companies like senescent cells companies, through initiatives like Mercks early stage venture arm.

Pharmaceutical companies live in the future, they live in 10 to 20 year cycles, says Jakimov. They are super focused on the longevity sector.

This article first appeared in our monthly Unleashed pet tech newsletter, a collaboration with Purina Accelerator Lab. All content is editorially independent.Sign upto our newsletter here to keep up to date with the latest goings on in the European pet tech industry.

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Purrsonalised health: The startups and VCs betting on pet genetics - Sifted

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Mental illness is a growing public health problem. In 2019, an estimated 1 in 8 people around the world were affected by mental disorders like depression, schizophrenia or bipolar disorder.

While scientists have long known that many of these disorders run in families, their genetic basis isnt entirely clear. One reason why is that the majority of existing genetic data used in research is overwhelmingly from white people.

In 2003, the Human Genome Project generated the first reference genome of human DNA from a combination of samples donated by upstate New Yorkers, all of whom were of European ancestry.

Researchers across many biomedical fields still use this reference genome in their work. But it doesnt provide a complete picture of human genetics. Someone with a different genetic ancestry will have a number of variations in their DNA that arent captured by the reference sequence.

When most of the worlds ancestries are not represented in genomic data sets, studies wont be able to provide a true representation of how diseases manifest across all of humanity.

Despite this, ancestral diversity in genetic analyses hasnt improved in the two decades since the Human Genome Project announced its first results. As of June 2021, over 80 per centof genetic studies have been conducted on people of European descent. Less than two per cent have included people of African descent, even though these individuals have the most genetic variation of all human populations.

To uncover the genetic factors driving mental illness, I, Sinad Chapman and our colleagues at the Broad Institute of MIT and Harvard have partnered with collaborators around the world to launch Stanley Global, an initiative that seeks to collect a more diverse range of genetic samples from beyond the US and Northern Europe and train the next generation of researchers around the world.

Not only does the genetic data lack diversity, but so do the tools and techniques scientists use to sequence and analyse human genomes. So we are implementing a new sequencing technology that addresses the inadequacies of previous approaches that dont account for the genetic diversity of global populations.

To study the genetics of psychiatric conditions, researchers use data from genome-wide association studies that compare the genetic variations between people with and without a particular disease.

However, these data sets are mostly based on people of European ancestry, largely because research infrastructure and funding for large-scale genetics studies, and the scientists conducting these studies, have historically been concentrated in Europe and the United States.

One way to close this gap is to sequence genetic data from diverse populations. My colleagues and I are working in close partnership with geneticists, statisticians and epidemiologists in 14 countries across four continents to study the DNA of tens of thousands of people of African, Asian and Latino ancestries who are affected by mental illness.

We work together to recruit participants and collect DNA samples that are sequenced at the Broad Institute in Massachusetts and shared with all partners for analysis.

Prioritising the voices and priorities of local communities and scientists is foundational to our work. All partners have joint ownership of the project, including decision-making and sample and data ownership and control.

To do this, we build relationships and trust with the local communities we are studying and the local university leaders and scientists with whom we are partnering. We work to understand local cultures and practices, and adapt our collection methods to ensure study participants are comfortable.

For example, because there are different cultural sensitivities around providing saliva and blood samples, we have adapted our practices by location to ensure study participants are comfortable.

We also freely share knowledge and materials with our partners. There is a two-way exchange of information between the Broad Institute and local teams on study progress and results, enabling continual learning, teaching and unity between teams.

We strive to meet each other where we are by exchanging practices and training scientists to support the development of locally grown and locally led research programmes.

Our collaboration with African research groups provides a prime example of our model. For example, our African research colleagues are co-leaders on the grants that fund the lab equipment, scientists and other staff for projects based at their study sites. And we help to support the next generation of African geneticists and bioinformaticians through a dedicated training programme.

Analysing variation

Collecting samples from more diverse populations is only half of the challenge.

Existing genomic sequencing and analysis technologies do not adequately capture genetic variation across populations from around the world. Thats because these technologies were designed to detect genetic variations based on reference DNA from people of European ancestry, and they reduce accuracy when analysing sequences that arent derived from the reference genome.

When these tools are applied to genetic data from other populations, they fail to detect much of the rich variation in their genomes. This can lead researchers to miss out on important biomedical discoveries.

To address this issue, we developed an approach to genome sequencing that can detect more genetic variation from populations around the world. It works by sequencing the exome the less thantwo per cent of the genome that codes for proteins in high detail, as well as sequencing the 98 per cent of the genome that does not code for proteins in less detail.

This combined approach reduces the trade-offs geneticists often have to make in sequencing projects. High-depth whole genome sequencing, which reads through the entire genome multiple times to get detailed data, is too costly to do on a large number of DNA samples.

While low-coverage sequencing reduces costs by reading smaller segments of the genome, it may miss some important genetic variation. With our new technology, geneticists can get the best of both worlds: sequencing the exome in depth maximises the likelihood of pinpointing specific genes that play a role in mental illness, while sequencing the whole genome less in depth allows researchers to process large numbers of whole genomes more cost-effectively.

Personalising medicine

Our hope is that this new technology will allow researchers to sequence large sample sizes from a diverse range of ancestries to capture the full breadth of genetic variation. With a better understanding of the genetics of mental illness, clinicians and researchers will be better equipped to develop new treatments that work for everyone.

Genomic sequencing opened a new era of personalised medicine, which promises to deliver treatments tailored to each individual person. This can be done only if the genetic variations of all ancestries are represented in the data sets that researchers use to make new discoveries about disease and develop treatments.

Hailiang Huang, Assistant Professor of Medicine, Harvard University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Uncovering the genetic basis of mental illness requires data and tools that aren't just based on white people - Down To Earth Magazine

At 44, Janet Waterhouse should have been the picture of health; a former Division I soccer player, she taught yoga, enjoyed running, and didnt drink alcohol. Despite her healthy and active lifestyle, over a span of decades she experienced a number of unexplained symptoms.

Her symptoms continued to worsen into her 20s when she began to sporadically lose function of her hands and experience severe bouts of vertigo. Most doctors attributed her symptoms to stress and anxiety. During this time, Waterhouse was seeing a pain management specialist, who was concerned enough about her worsening symptoms to run a blood test, where he found irregularly shaped blood cells, called acanthocytes.

A series of serendipitous referrals led Waterhouse to Ali Hamedani, an assistant professor of neurology and ophthalmology in the Perelman School of Medicine. Based on her symptoms and exam, he suspected a genetic condition called chronic progressive external ophthalmoplegia (CPEO) and referred her to Laynie Dratch, a certified genetic counselor in the Penn Neurogenetics Therapy Center, for genetic testing.

In May of 2022, Dratch gave Waterhouse what she had been chasing for decades: a diagnosis. When the genetic counselor told me they found the genetic mutation they were looking for, I cried for a solid five minutes out of relief, Waterhouse says.

Waterhouses case of CPEO was found to be caused by a variation on her RRM2B gene, which affects the mitochondria in her cells. While the condition is very rare and can sometimes take years to locate and diagnose, Hamedanis hunch about the gene mutation led them right to it.

Because little is known about CPEO, treatment options are limited. Most people would be discouraged by the uncertainty, she says, but it thrills me to get to be the blueprint. I get to show people how to live with this.

Launched in March 2020, the Penn Neurogenetics Therapy Center has a team of clinicians, nurses, genetic counselors, and clinical research staff who are devoted to the care of patients with inherited neurological disorders and to participating in clinical trials of novel gene and molecular therapies.

The programs mission is twofold: first, they utilize the expertise of clinicians and researchers throughout the department of Neurology and across Penn Medicine to achieve a genetic diagnosis for as many patients like Waterhouse as possible, creating a database of eligible patients for new treatments and clinical trials. Second, they work to establish clinical trials using novel gene and molecular therapies for patients with genetically-based neurological disorders.

Our genetics counselors are some of the best in the country, and are incredibly effective at diagnosing patients and matching them with effective treatments and clinical trials, says Steven Scherer, a professor of neurology and director of the Neurogenetics Therapy Center. Now we can utilize this expertise to design tomorrows therapies.

Read more at Penn Medicine News.

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Solving medical mysteries with genetics: The Penn Neurogenetics Therapy Center | Penn Today - Penn Today

Clinicians agree that evidence supports testing benefits for all

SAN FRANCISCO, Sept. 15, 2022 /PRNewswire/ -- Invitae (NYSE: NVTA), a leading medical genetics company, joined other clinical experts in releasing a new commentary in Journal of Clinical Oncology Precision Oncology, underscoring the importance of universal germline testing for all patients with cancer (solid tumors). The paper reports a meta-analysis of multiple clinical publications supporting universal testing, independent of age, stage, family history or type of cancer. It reports that for cancer types such as pancreatic and ovarian where universal genetic testing is already recommended, 13% and 20% of patients (respectively) have identifiable actionable heritable gene mutations,2. In comparison, the actionable inherited gene mutation rate for patients with other cancer types is similar: breast 11%, endometrial 13%, prostate 14%, kidney 13%, bladder 14%, testicular 13%, colorectal 13%, liver 14%, and stomach 14%.

Furthermore, it reports that between 5-13% of patients with cancer with heritable gene mutations are missed by current restrictive testing guidelines and are unable to benefit from associated precision treatment and clinical trial benefits. First, allowing all patients to receive germline testing, without restrictive guidelines, affords patients access to precision therapies, clinical trials and other risk reducing interventions that can improve outcomes, and even extend overall patient survival1. Second, genetic testing informs surveillance and risk reduction for future cancers in patients already affected by cancer. Third, cascade testing helps alert their family members of an increased risk for cancer, so they too can then take advantage of monitoring and risk reducing interventions. Consistent with the Cancer Moonshot 2.0and the President's Cancer Panel report 2022, the expert consensus concludes that current evidence supports the implementation of universal germline genetic testing for all patients with cancer (solid tumors).

"This consensus from nationally recognized, cancer genetics clinical experts reinforces the current guidelines that universal genetic testing be offered in all patients with ovarian and pancreatic cancer and either be offered or considered in all patients with colorectal," said Ed Esplin, MD, PhD, FACMG, FACP, clinical geneticist at Invitae. "More importantly, this is a call to all guidelines committees, insurer medical policy makers and the President's Cancer Moonshot Cabinetto make universal genetic testing available to potentially reduce mortality and improve the lives of all patients with cancer."

The collaborative commentary included experts from the Carolina Urologic Research Center, City of Hope, Dana-Farber Cancer Institute, Mayo Clinicand Invitae.

"The PROCLAIM studydemonstratesthe clinical utility of universal germline genetic testing in patients with prostate cancer. Current NCCN guidelines precludesome prostate cancer patients from receiving germline testing, thus depriving these patients of the potential to receive precision-based therapies and specificclinical trial eligibility, whileperpetuating healthcare disparities among historically underrepresented populations. The PROCLAIM data supports universal genetic testing for prostate cancer patients. We should expeditiously eliminate barriers to gene-based precision therapies to optimize patient outcomes and accelerate equitable access to care," said Neal Shore, MD, urologist and medical director, Carolina Urologic Research Center.

Cancer is a leading cause of death worldwide, accounting for nearly 10 million deaths in 2020.

Worldwide, there were an estimated 18.1 million new cases of cancer in 2018, with one in four men and one in five women developing the disease. In addition, there were 43.8 million persons living with cancer in 2018 who were diagnosed within the last five years.

"The INTERCEPT study has shown the prevalence and clinical utility of germline genetic testing is virtually the same across 14 cancer types, even those cancers not traditionally considered hereditary. This data supports universal genetic testing not only for colorectal cancer, but patients with all cancer types, to potentially improve their treatment and future cancer prevention for them and their family members," said Jewel Samadder, MD, enterprise co-leader precision/individualized cancer medicine, Mayo Clinic Comprehensive Cancer Center.

Restrictive guidelines can lead to disparities in cancer care. Offering germline genetic testing to all patients with cancer at diagnosis may help reduce inequities in cancer care by expanding access for all patients to precision therapy or clinical treatment trials.

"The prevalence of pathogenic variants in cancer susceptibility genes for which there are management guidelines is similar among patients with all types of solid tumors, therefore, it does not makes sense that current guidelines only recommend germline genetic testing for all patients with ovarian, pancreatic, and recently, colorectal cancers. This information has the potential to affect the treatment of these individuals' current cancers. In addition, it has the potential to allow for the prevention or early detection of future cancers in both these patients and their family members," said Heather Hampel, MS, CGC, professor, Department of Medical Oncology & Therapeutics Research, City of Hope.

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

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the potential benefits of universal genetic testing for all patients with cancer; and that restrictive guidelines can lead to disparities in cancer care. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2022. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Renee Kelley[emailprotected](628) 213-3283

SOURCE Invitae Corporation

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Leading Clinical Experts Across the U.S. Unite to Support Universal Genetic Testing for all Patients with Cancer - PR Newswire

Childrens Hospital of Philadelphia is growing its footprint on the east side of the Schuylkill, adding a second high rise next to the 20-story Roberts Center for Pediatric Research.

At 14 stories, the new Schuylkill Avenue Research Building will provide a complement to the existing tower by offering a distinct form of research space. CHOP is searching for a sponsor to christen the structure, as the Roberts family of Comcast fame did for its neighbor.

The new building will add 250,000 square feet of wet lab space, a term for laboratories used to research biological or chemical subjects. Across its real estate holdings, CHOP already provides 800,000 square feet of wet lab space, but the Roberts Center is focused on administrative and meeting space as well as dry labs that are more focused on patient trials and computational or policy work.

At this campus we will be looking at opportunities for new cell and gene therapies and ways to develop vaccines or target the immune system to promote health, said Sue Furth, CHOPs chief scientific officer. Itll be a next-generation research campus totally dedicated to improving the health of children. Philadelphia is really up and coming in this area, just after Boston.

The building comes as Philadelphia is making big bets on the life sciences, an employment sector that has proven more resilient to the growing trend of work-from-home than traditional office space during the pandemic. Biomedical and pharmaceutical work cannot be done from home, and the market has been growing in University City, the Navy Yard, King of Prussia, and even downtown.

READ MORE: Philadelphias glass skyline is killing birds. A new Fairmount Park building has a solution. | Inga Saffron

CHOP believes this new work setup will continue to result in fewer workers in its buildings at any given time, as evidenced by the fact that the Schuylkill Avenue Research Building will not include any new parking. There are already 404 parking spaces on site and that is believed to be sufficient even after the new structure is completed. CHOP did not offer the precise number of workers it expects to be based out of the new building.

The density of research is not the same as an administrative building, said Donald Moore, CHOPs senior vice president for real estate, facilities and operations. It will be less intense than what we have at the Roberts Center right now [in terms of the number of people coming to the building].

The building will include 33,000 square feet of office space and 6,500 square feet of retail space, with an eatery or cafe planned with an entrance near the South Street Bridge. The Roberts building currently hosts an establishment called the Waterfront Cafe that is open to the public, but CHOP acknowledges that its existence is little known to those who dont work for the institution.

They hope the new cafe, which will be visible from the street, will prove a boon to the public, add more amenities to the surrounding residential area, and provide a space for collaboration for CHOP workers.

If you consider the dearth of food service amenities in this particular community, and the amount of foot traffic that goes past our site on a daily basis, it should be a very attractive offering for someone, said Moore.

The plan for the new structure was created by the international architecture firm Cannon Design and it won plaudits when presented to Philadelphias Civic Design Review board, a municipally appointed team of architects and planners who review large real estate developments.

The Schuylkill Avenue Research Building will look similar to the Roberts Center, but with darker materials and lighting. The designers drew from lessons learned from the previous building about the toll that glassy skyscrapers can take on avian life. Ornithologists believe that between 350 million and a billion birds die each year in the United States because the reflective glass confuses them, and they fly into the buildings at top speed.

READ MORE: From 2020: Up to 1,500 birds flew into some of Phillys tallest skyscrapers one day last week. The slaughter shook bird-watchers.

Weve taken a lot of time and effort to try and address the fact that many of the high rises along the Schuylkill River migratory bird path are magnets for migrating birds, said John Roach, office engineering leader with Cannon Design. In our cladding choices and brick patterns, weve tried to take proven measures to help reduce the incidence of bird strikes here.

Hurricane Ida also offered a lesson to CHOP, as last years flooding created elevator and parking issues at the Roberts Center. Although Moore couldnt provide immediate details, he said the institution will be convening an expert panel this week to discuss how to protect the new building from 100-year flood events that are expected to be ever more frequent.

The general plan for further construction on the site has been anticipated for some time. The foundation of the Schuylkill Avenue Research Building is already in place, which community groups cited as an example of CHOPs neighborliness construction is expected to be less disruptive because the site was prepared for a new building years in advance.

Unusually, for a building of this size next to a residential area, it has enjoyed a rapturous reception by near neighbors and community groups.

If the first one was a salt shaker, the latest is like a pepper shaker, they go so well together, said Murray Spencer, zoning chair for the South of South Neighborhood Association.

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CHOPs new bird-proofed skyscraper will focus on vaccine and genetics research - The Philadelphia Inquirer

Wilmington, Delaware, United States, Transparency Market Research Inc. The preimplantation genetic testing is an increasingly go-to option for identifying genetic birth effects in children. The technique relies on the use of vitro fertilization before pregnancy. The technique is highly recommended in clinical practices especially in cases wherein both parents have a genetic defect. The tests are performed on an embryo to determine various genetic associations or factors. The PGD or preimplantation genetic diagnosis is the medium to avail this test.

Read Report Overview - https://www.transparencymarketresearch.com/preimplantation-genetic-testing-market.html

On the other hand, PGS or presumed genetic screening refers to techniques are applied for the screening of genetically sound parents. The technique is used to screen aneuploidy. The growing demand for genetically testing and rising knowledge of genetics, thanks to big data and AI technology is a promising driver for growth of the preimplantation genetic testing market.

Preimplantation Genetic Testing Market: Notable Developments

In 2018, twin girls in China were conceived using embryos that were specifically designed with the method of gene altering. In 2019, a 74 year Indian women gave birth to first-time twins. It is estimated that nearly 12% of the overall couples are infertile.

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Additionally, thanks to rising financial stress, and compatibility issues, women tend to conceive a far later in lifecycle. The growth of couples opting for reproductive technologies in Denmark stands at near 7% of all couples. The new technologies made available due to preimplantation genetic testing is expected to witness robust future as economies of scale drive down costs.

HelpCureHD, an organization has helped 24 families with Huntingtons disease to conceive healthy. The family-supported organization paid for the treatment of 24 families who were diagnosed with huntingtons disease. This is important to take note of as reproduction remains a key family concern and is likely to drive growth from charities. However, the costs of preimplantation genetic testing remain high and pose a major barrier to growth.

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Preimplantation Genetic Testing Market: Drivers and Restraints

The rising advent of medical knowledge and growth of technologically advanced genetic devices are expected to result in considerable growth for the preimplantation genetic testing market. Additionally, positive response from several regulatory authorities to genetic testing and possible opportunities for conceving healthier children are expected to be major opportunities. Additionally, more tech companies are also expected to invest in testing.

Recently, Facebook announced its desire to pay women more to conceive later as many women opted out of their jobs to take care of their families. The growing need for women to seek a balance between family and career, and growing tendency towards opting for family are expected to drive investment from the tech sector wherein salaries are extremely high and replacing labor can be far more costly.

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Preimplantation Genetic Testing Market: Geographical Analysis

The preimplantation genetic testing market is expected to witness major growth in North America region. The growing choice of women towards conceiving later, growing reliance on technology to identify pre-birth conditions, and expected cutting down costs due to scales of economy are expected to drive major growth in region.

Additionally, the preimplantation genetic testing market is expected to drive considerable growth in Asia Pacific region. The region is home to a rising disposable income, and growing access to healthcare. Additionally, large investment in big data and Artificial Intelligence technology by countries like Japan and China are expected to remain major drivers for growth.

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Preimplantation Genetic Testing Market: Growing Demand for Genetically Testing and Rising Knowledge of Genetics to Drive the Market - BioSpace

People who have been diagnosed with myalgic encephalomyelitis (ME) are being invited to take part in the worlds largest genetic study of the disease.

The study, named DecodeME and led by researchers at Edinburgh Universitys MRC Human Genetics Unit, aims to reveal the tiny differences in a persons DNA that can increase their risk of developing ME, also known as chronic fatigue syndrome (CFS).

It is estimated that more than 250,000 people in the UK are affected by the condition, with symptoms including pain, brain fog and extreme exhaustion that cannot be improved with rest.

The causes of the disease are still unknown, and there is no diagnostic test or effective treatments thus far.

Testing DNA in the saliva of 20,000 donated samples will allow for analysis on whether the disease is partly genetic, and if so, research into its cause and effective treatments.

The study has also been expanded to include analysis on the DNA of a further 5,000 people who have been diagnosed with ME or CFS after having Covid-19.

We believe the results should help identify genes, biological molecules and types of cells that may play a part in causing ME/CFS

Professor Chris Ponting

Along with the DNA research, an anonymous survey will provide an insight into the experience of those with the condition.

The research team is being led by Professor Chris Ponting.

He said: This is the first sizable DNA study of ME/CFS, and any differences we find compared to control samples will serve as important biological clues.

Specifically, we believe the results should help identify genes, biological molecules and types of cells that may play a part in causing ME/CFS.

The university is working alongside charity Action for ME, the Forward ME alliance of UK charities, and people with lived experience of the condition.

Chief executive of Action for ME Sonya Chowdhury said: People with lived experience of ME/CFS are at the very heart of the DecodeME project and our Patient and Participant Involvement group has worked closely with researchers on all aspects of the study.

Their profound involvement has been so transformational that we firmly believe it sets a new standard for health research in this country.

Individuals with ME or CFS who are aged 16 and over and based in the UK are invited to take part from home by signing up on the DecodeME website from 12pm on Monday.

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People with ME invited to take part in major genetic study - The Independent

So argued Glen Illing, a partner at AquaWoo, who gave a talk on the species at the recent Global Shrimp Forum in Utrecht.

According to Illing, the reasons for the current stagnation of the giant river prawn sector include the comparatively low profitability of the species compared to monodon and vannamei shrimp.

The species is grown at relatively low stocking densities, often as a secondary crop and quite frankly the second choice for cultivation, favoured in the main by small subsistence farmers. If profitability can be improved, farming freshwater shrimp will increase and this is where genetics can play a part, he reflected.

Genetic improvement is synonymous with efficiency, profitability and resilience to diseases, he added. But it baffles me why its so poorly applied to a species with as much potential as the giant freshwater prawn and yet its been applied to other species such as vannamei, where there have been massive jumps and improvements since the year 2000.

There are woefully few breeding programmes that are actually applying genomics to giant freshwater prawns.

This is even more surprising as, according to Illing, researchers have laid some of the vital groundwork.

There have been some notable [breeding] programmes and also some great research projects, but they havent been integrated into mainstream giant freshwater prawn production, he observed.

There are woefully few breeding programmes that are actually applying genomics to giant freshwater prawns, he added.

Although there have been a handful of successful breeding programmes in countries including Indonesia, China, Vietnam, Thailand and India, Illing noted that the generation-on-generation benefits have since slowed down, largely due to issues caused by inbreeding.

One development that Illing sees as having great potential is the use of genomics to produce all-male and all-female stocks the former are grown to large sizes over long cycles in order to compete with the lobster market, while the latter can produce three cycles a year.

Both gender-focused programmes increase profitability over a mixed sex cultivation, and both can be used in polyculture with vannamei or with fish like tilapia, he said.

Relatively large proportions of freshwater prawn farmers are beginning to cultivate all-males, particularly in Thailand on the other hand the all-female revolution is taking longer to reach wide-scale production, this technology is currently patent protected and being developed exclusively by one company [Enzootic], he explained.

Most recently, Illing argues, the rise of gene editing can bypass most of the backbreaking quantitative genetics work and will come much quicker than people imagine. And he pointed to a number of breakthrough technologies, including one at Ben Gurion University that developed platforms that have been geared up specifically to have the ability to edit freshwater prawns.

Operating at an economic density is key too high and the management challenges are insurmountable, too low the yields would not economically justify the costs.

Illing then focused on the all-female giant river prawn production work being done by Enzootic. While the company is based in Israel, they have recently built a compact, vertical RAS hatchery, with the capacity to produce 450 million giant river prawns per year, near Bangkok one of the main giant freshwater prawn production areas. Here theyre grown to juvenile size before being shipped to farmers.

The crux of all-female production is the ability to increase the stocking rates in ponds or tanks to economic densities and yet obtain a desirable market size within four months to enable three cycles per year and maximise the farmers yields. Operating at an economic density is key too high and the management challenges are insurmountable, too low the yields would not economically justify the costs, Illing observed.

Trials undertaken by the company are set to establish the best stocking densities in commercial farms shortly. But Illing also pointed to the results of a tank-based trial undertaken by the Asian Institute of Technology (AIT) found that optimum yields were around 24 giant river prawns per square metre, whereas the fastest growth rate occurred at 8 prawns per square metre up from the 4 per square metre favoured in traditional farms.

Gregg Yan

The next question Illing would like to see answered is whether the results of these tank-based trials are substantiated in commercial pond production of all-female production.

And, in order to speed up the process and encourage buy-in from farmers, Enzootic has established a large-scale commercial farm to the east of Bangkok, consisting of 55 earthen ponds across 100 ha. The first harvest from these is due soon, he noted.

The company is now also going further down the vertical integration route by developing a branded product which is being tested in the high end retail market in Canada.

Rob Fletcher has been writing about aquaculture since 2007, as editor of Fish Farmer, Fish Farming Expert and The Fish Site. He has an MA in history from the University of Edinburgh and an MSc in sustainable aquaculture from the University of St Andrews. He currently lives and works in Scotland.

Read more:
Can genetics breathe new life into giant river prawn production? - The Fish Site

Legendary US rancher Lee Leachman has said Stabiliser cattle should become the standard suckler cow in the UK to help farmers with future challenges.

Mr Leachman, who is CEO of Leachman Cattle of Colorado, one of the five largest seedstock breeders in the US, made the remarks this week while on a tour of farms in Scotland and Northern England.

He described Stabiliser as the best kept secret in temperate regions, adding that hybrid genetics suited the UK extremely well.

Britain has particular requirements, he said. Running cows on grass, over wintering them inside, feeding them low quality forage and still trying to produce shapely cattle.

"The best way to do that is by producing hybrid cows. Stabilisers thrive here. They produce well over a 95% calving rate so anything that does that must thrive.

The shoe fits. Everyone breeds cows for different reasons, but if youre looking at data and trying to make money, then hybrid genetics are the way forward. We dont have many people stop using them once they start.

Mr Leacham added that for the first time, society was demanding that cattle are productive, while at the same time delivering for sustainability and the environment.

Generally, cattle change slowly, but we are seeing rapid, managed change, he said. Hybrid genetics are a game-changer and our breeders are continually moving to optimise production.

"This means moderately sized cows, better fertility, longevity, and better calves, which feed into everything, from lower carbon emissions to ease of care, eating quality and dollar profit.

Hybrid production is normal in crop production, swine, and poultry. Were using systems aligned with that in beef and I dont think UK cattle farmers have any other source of feed efficiency tested, genomically evaluated composite genetics.

Stabiliser cattle were created in the 1970s at the USDA Meat Animal Research Centre in Nebraska when investigating the benefits of composite breeding on cattle efficiencies, particularly in relation to heterosis, or hybrid vigour.

Three hybrids were created in the initial breeding programme and one that proved most profitable in both cow/calf and feed yard performance was a 25% composition of Hereford, Angus, Simmental, and Gelbvieh, which became the basis for the modern Stabiliser.

The breed was refined and improved by Mr Leachman, first as part of the Leachman Cattle Company in Billings, Montana, and latterly as part of Leachman Cattle of Colorado, which now markets more than 2,000 bulls each year.

Stabiliser cattle were first introduced to the UK in the late 1990s when a group of Yorkshire beef farmers, led by industry innovator Richard Fuller, started searching for a more efficient alternative to the dairy crosses they were producing at the time.

A total of 52 embryos were imported from the Leachman Cattle Company in 1999 which formed the basis of the UK herd.

Mr Leachman sits on the board of the Stabiliser Cattle Company, based in Southburn, East Yorkshire, which is responsible for improving and promoting the breed in the UK.

He said his visit to the country had been focussed on helping the Stabiliser Cattle Company direct their genetic improvements programme, as well as assessing the quality of the UK herd.

He said: These visits are a great opportunity to see how cattle here are progressing and ask what UK breeders want to focus on for improvement.

It is also fantastic to see people enjoying Stabiliser. Theyre the UK's ultimate suckler cow with highly fertile, docility, calving ease, and efficiency.

"Raising beef is hard work, but raising Stabilisers is more fun and more profitable.

Excerpt from:
Hybrid genetics is the future of UK beef, legendary US rancher says - FarmingUK

Editors Note

Spectrums house style is to lowercase autistic, but we have made an exception in this instance at the authors request.

Wrigley Kline

Graduate student, Northeastern University

In October, the researchers behind the U.K. genetics study Spectrum 10k had to pause and reorganize their project after some in the Autistic community questioned the teams aims and methods.

This derailment exemplifies the growing tensions between genetics researchers and portions of the Autistic community and reflects the fact that some in the community are increasingly hesitant to share their genetic material with researchers. One of their primary concerns is that some geneticists are working to cure autism or prevent it via prenatal testing. They see that the availability of reliable noninvasive prenatal testing has contributed to the plummeting prevalence of Down syndrome in Europe, which is an example of modern eugenics, and fear that genetics research could lead to similar outcomes for Autistic people.

To be sure, Spectrum 10k explicitly states that it is not trying to cure or eradicate autism. Still, some Autistic people find it easier to avoid participating in any genetics research rather than trying to avoid projects that may obfuscate their aims with abstract descriptions, lack data security or reshare stored genetic information indiscriminately.

I understand why some members of the Autistic community feel this way: I am an Autistic person, and I study white supremacist violence, including eugenics. Listening to some researchers discuss their visions for the future of autism research often provokes emotions similar to reading about what neo-Nazis want to do with people like me.

As a researcher, I understand the value of good datasets, and as an Autistic person, I know that genetics research into the health problems that accompany autism is important. This intersection of my personal and academic experience enables me to value the goals of Autistic people and scientists at the same time and to work toward a collaborative solution.

I have what I think could be several effective, noncontroversial suggestions that could begin to address the concerns of Autistic people, and in turn increase the likelihood of their participation in genetics research. My recommendations arent meant to prevent researchers from accessing data; instead, they can foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.

Francis Galton, who coined the term eugenics in 1883, described his research as an attempt to improve theracial qualities of future generations either physically ormentally through science. Attempting to cure autism or prevent Autistic people from being born clearly fits this definition.

Though many genetics researchers dont want to cure autism, their research can inadvertently benefit scientists who do and who believe that severely disabled autistic people cannot enjoy a good quality of life. That view ignores a substantial body of research that explores strategies to increase happiness for severely disabled people. People who work to eliminate severely disabled people under the pretext that they are sparing those people from suffering are misguided. The aim of curing or eliminating severely disabled people also violates human rights and UNESCOs 1997 Universal Declaration on the Human Genome and Human Rights.

Autistic people hesitate to share their genetic material because it frequently ends up in large databases that are readily available to qualified researchers at universities, private companies or medical institutions who apply for access. Once a database hands over genetic information, the information could rapidly change hands and be used for purposes that are anathema to an Autistic study participant.

Most of these large-scale databases fail to meet the privacy standards laid out in UNESCOs declaration to protect identifiable genetic data, because researchers are getting better at re-identifying certain types of genetic data. An example of such privacy failures is MSSNG, a database of genetic material created by Autism Speaks and Google that currently hosts more than 11,300 whole-genome sequences on a cloud-based system. MSSNG shares datasets with academic institutions internationally. Such cloud-hosted databases, however, are routinely hacked.

Additionally, MSSNG does not specify which countries it shares its data with. Human rights groups and academic publishers have criticized China, for example, for conducting unethical genetics research, such as human CRISPR-Cas9 experimentation and attempting surveillance via the short tandem repeats that occur on the Y chromosome. Researchers in countries with low ethical standards could access MSSNGs data, either through an application or through hacking.

Large-scale databases also struggle to comply with the intellectual honesty requirements in UNESCOs declaration, which states that genetics research participants should be required to give informed consent for each project that analyzes their data. Most databases grant access to their datasets once the datasets owner approves an application, but the people who contributed their genetic material do not have the opportunity to refuse to consent to the new research.

Some organizations are even less clear about how they share data. Spectrum 10k, which is revising its approach after backlash from the Autistic community, says it plans to share its data with researchers whose aims are in line with our efforts to improve the well-being of autistic people. But well-being is abstract, and Spectrum 10k doesnt define the term in this context, giving the project plenty of legal leeway to share data with whomever they want.

Such ambiguity highlights another reason that Autistic people distrust autism geneticists. As recently as 2016, Autism Speaks openly said it was looking at the genetic origins of autism to create a cure. Now it publicly denounces that goal and says its work will lead to treatments for autisms associated health problems, but most of its research looks the same. Article 17 of UNESCOs declaration encourages solidarity between researchers and participants; opaque statements about research outcomes contradict this goal.

Failing to make informed consent accessible to intellectually disabled people who are their own legal guardians also breaks that solidarity. Severely disabled Autistic people care about the impact genetics research could have on their lives. Some projects create non-binding documents that summarize informed consent, but these documents tend to be created internally and paint research in the most favorable light. Instead, a neutral third party, such as a disability rights law firm, should draft these accessible informed-consent documents. Putting the usual accessible and traditional informed-consent documents side by side readily shows how the former often leaves out important information for intellectually disabled people.

Having good intentions doesnt prevent research from doing harm, and geneticists are not always best positioned to see the long-term implications of their work. Social scientists, particularly disabled social scientists, could play a valuable role in both fostering solidarity and enforcing research ethics in the autism field. Article 16 of the UNESCO declaration recommends the establishment of multidisciplinary ethics committees to consider the implications of genetics research projects. This isnt occurring publicly, yet this type of oversight is uniquely important, given the history of eugenics against Autistic people and the ongoing suspicion many in the Autistic community harbor toward geneticists.

Ultimately, to gain greater participation from the Autistic community, geneticists should come into compliance with UNESCOs 1997 Universal Declaration on the Human Genome and Human Rights: They must secure their databases to the degree they would identifiable genetic data, require database participants to sign an informed consent for each project their data is used for, provide third-party accessible informed consents, and involve disabled social scientists in the development of research.

Cite this article: https://doi.org/10.53053/XZSI8371

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How geneticists can gain greater buy-in from the autistic community - Spectrum