SAN DIEGO, Oct. 15, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), developer of the Saphyr system that uses optical genome mapping (OGM) for the detection and analysis of structural variants (SVs), today announced the American Society of Human Genetics (ASHG) conference lineup of customer posters and presentations featuring OGM. The customer posters and presentations span genetic disease applications including amyotrophic lateral sclerosis (ALS) and postnatal, as well as cancer research applications including pediatric brain tumors and myelodysplastic syndromes (MDS). The ASHG conference is being held virtually this year and runs from Monday, October 18, 2021 to Friday, October 22, 2021.

Talks featuring Bionano Genomics OGM solutions include research into how structural variation contributes to the cause of ALS; inverted genomic triplication structures; and a multi-site clinical validation study of constitutional postnatal SV, CNV and repeat array sizing, as well as findings of SVs in pediatric brain tumors, and epigenetics. Below is a list of customer presentations featuring OGM at this years ASHG conference.

OGM Application Area

Presenter

Affiliation

Presentation Title

Inherited Genetic Disorders

Dr. C.M. Grochowski

Baylor College of Medicine

Inverted genomic triplication structures: two breakpoint junctions, several possibilities

Dr. Emily McCann

Macquarie Univ. Ctr. for MND Research, Sydney, Australia

Development of a discovery pipeline for structural variation contributing to the cause of amyotrophic lateral sclerosis

Dr. Nikhil Sahajpal

Agusta University, Praxisgenomics, University of Iowa Hospital

Optical Genome Mapping for Constitutional Postnatal SV, CNV, and Repeat Array Sizing: A Multisite Clinical Validation Study

Dr. Ravindra Kolhe

Augusta University

Large-Scale, Multi-site, Postnatal Studies on Optical Genome Mapping (OGM)

Hematological Malignancies

Dr. Rashmi Kanagal-Shamanna

MD Anderson Cancer Center

Optical Genome Mapping Improves the Clinically Relevant Structural Variant Detection in MDS

Dr. Gordana Raca

Children's Hospital Los Angeles

Utilization of Optical Genome Mapping in Detection and Characterization of Rare Genetic Markers in Pediatric Leukemias

Solid Tumor Analysis

Dr. Miriam Bornhorst

Childrens National Hospital

Optical genome mapping reveals novel structural variants in pediatric brain tumors

Epigenetics Application

Dr. Surajit Bhattacharya

Childrens National Hospital

Utilization of Dual-Label Optical Genome Mapping for genetic/epigenetic diagnosis

We are delighted to see the broad range of presentations on OGM at ASHG this year, stated Erik Holmlin, PhD, CEO of Bionano Genomics. Our customers continue to push forward conducting cutting-edge research in the human genetics space and we are excited for them to share their research with the ASHG community. Congratulations to the authors on their work and the recognition that comes with delivering presentations at this important conference.

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For more details and to register for this online event please go to: https://www.ashg.org/meetings/2021meeting/

About Bionano Genomics

Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing; it also provides diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables scientists and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano offers genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for more than nine years and has performed more than 65,000 tests for those with neurodevelopmental concerns. For more information, visit bionanogenomics.com or lineagen.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 timing and content of the posters and presentations regarding OGM to be presented at the ASHG conference. 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 accuracy of customer posters and presentations to be presented; observations from studies covered by the posters and presentations may not be replicated; the ability of medical and research institutions to obtain funding to support adoption or continued use of 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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Bionano Genomics Announces American Society of Human Genetics Presentations Featuring Optical Genome Mapping for Genetic Disease and Cancer Research...

There are a number of genes that can cause a person to develop breast cancer. Some of these genes are inheritable, meaning they pass from parent to child. However, having the gene for breast cancer does not always mean a person develops it.

This article will go into detail about the role of genetics in breast cancer, whether breast cancer can skip a generation, and the next steps for a person who has a breast cancer gene.

The American Cancer Society (ACS) notes that inherited genetic factors do not cause the majority of breast cancers. However, there are certain inherited genes that increase a persons chances of developing breast cancer.

A gene is a sequence of DNA that determines certain traits, such as eye or hair color. Genes are transmitted in pairs from biological parents to their child. A child inherits one copy from each parent. Sometimes, a child can inherit a gene with mutations, which means that the gene does not function correctly.

Approximately 510% of breast cancer cases in people are hereditary.

Learn more about breast cancer genes here.

Other forms of breast cancer can occur due to gradual changes in a persons DNA.

These forms of breast cancer, known as somatic mutations, are not due to inherited factors. Somatic mutations occur for a variety of reasons, such as aging or exposure to certain chemicals.

Inherited breast cancer genes cannot skip a generation.

If a person has inherited a gene that causes breast cancer, they have a 50% chance of passing it on to their children. If a persons child does not inherit the mutated gene, the child cannot then pass it on to their future children.

However, while genes cannot skip a generation, the cancer can. Having a mutated gene is not a guarantee that a person will have breast cancer.

A mutated gene is still inheritable, even if the person does not develop breast cancer. This means that a persons child may inherit the mutated gene from them and could develop breast cancer.

There are various inherited gene mutations that can cause a person to develop breast cancer. The most common causes of inherited breast cancer are mutations in the genes BRCA1 and BRCA2.

The BRCA genes are responsible for repairing damage to cells in a persons body. These genes also help certain cells, such as breast or ovarian cells, to grow as expected.

When mutations occur in these genes, it can lead to atypical cell growth. Atypical cell growth can lead to the development of cancer.

If a female inherits a harmful BRCA gene, their risk of developing breast cancer by age 7080 is between 4569%.

Additionally, the ACS notes that males with the BRCA2 gene have a lifetime risk of 6 in 100 for developing breast cancer. Those with the BRCA1 gene have a lifetime risk of 1 in 100.

However, while there has been extensive research on the risk of breast cancer in females with the BRCA1 and BRCA2 genes, there has been less research on the cancer risk in males. As a result, these statistics might not be a true reflection.

Learn more about the BRCA gene here.

The ACS notes that most females who have breast cancer have no family history of the condition. However, having a family history of breast cancer can increase a persons chances of developing it.

A females chances of developing breast cancer double if they have a first degree relative with the condition. A first degree relative is an immediate family member, such as a sister, mother, or daughter.

Breastcancer.org states that a female has a higher risk of inheriting a genetic mutation linked to breast cancer if they have:

The risk of a person developing breast cancer increases with each additional family member who has it. Additionally, having a male relative who has breast cancer also increases a females chances of having it.

More research is necessary to determine the effects of family history on a males chances of developing breast cancer.

If a person is concerned that they may have inherited a breast cancer gene, they should speak with a doctor. A doctor may suggest for a person to undergo genetic counseling.

Genetic counseling involves a person speaking with a genetic counselor about their chances of developing breast cancer. Genetic counselors can also provide a person with resources and support.

This type of counseling can also help a person decide if they would like to take part in genetic testing or not. Genetic testing involves checking a persons genetic profile for breast cancer-causing genes.

Genetic testing for cancer usually involves a person submitting a blood sample. However, other forms of genetic testing can use cell samples from a persons:

If a person knows they have a BRCA gene, there are various medical options available to them.

These options include the following:

Breastcancer.org suggests that a person with a high risk of developing breast cancer may benefit from having more frequent screenings.

A person can speak with a doctor about how often they should get screened for breast cancer.

This can involve:

There are certain medications that can help reduce a persons chances of developing hormone receptor-positive breast cancer.

Hormone receptor-positive breast cancers contain hormone receptors that are activated by certain hormones. When these hormones bind to the hormone receptors, they can stimulate growth in the cancer.

Hormonal therapy medications reduce the amount of these hormones in a persons body.

These medications include:

A person may choose to have risk-reduction surgery if they have a high risk of developing breast cancer.

According to the National Cancer Institute, risk-reduction surgery for breast cancer can involve removing one or both breasts, ovaries, or both pairs. There are two types of risk-reducing surgeries: bilateral prophylactic mastectomy and salpingo-oophorectomy.

Bilateral prophylactic mastectomies involve removing both breasts, including a persons nipples, which is known as a total mastectomy. The other option is a subcutaneous mastectomy, which involves removing as much breast tissue as possible while leaving a persons nipples intact.

A total mastectomy reduces a persons risk of developing breast cancer better than a subcutaneous mastectomy.

A salpingo-oophorectomy involves the removal of a persons ovaries and fallopian tubes. Removing the ovaries reduces the amount of estrogen in someones body, which can slow the growth of some breast cancers. Estrogen can promote the growth of some types of breast cancer.

For people with a mutation in the BRCA1 and BRCA2 genes, a bilateral prophylactic mastectomy can reduce the risk of breast cancer by at least 95%.

It can also reduce the risk of breast cancer in people with a strong family history of this condition by up to 90%.

A salpingo-oophorectomy can reduce the chances of breast cancer in people with a high risk by 50%.

For people with mutated BRCA genes, premenopausal removal of their ovaries and fallopian tubes can reduce breast cancer risk by 50% and ovarian cancer risk by 8595%.

Ovary removal may also increase a persons chances of survival if they do develop breast cancer due to mutated BRCA genes.

Inherited genetic factors may cause a person to develop breast cancer. However, a person who inherits a breast cancer gene may not always develop cancer.

This means that a breast cancer gene can appear to skip a generation, even though it does not.

If a person has a family history of breast cancer, they are at a higher risk of developing it. A person can speak with a doctor about their risk of breast cancer to see if they may qualify for or benefit from genetic counseling.

A person can then decide if they would like to have genetic testing.

If a person has a mutated BRCA gene, there are various medical options available to them. A person should speak with a doctor about which option is right for them.

Read more from the original source:
Breast cancer and genetics: Can it skip a generation? - Medical News Today

Jomon teeth vs Native American teeth. Credit: G. Richard Scott, University of Nevada Reno

Latest scientific findings suggest the ancestral Native American population does not originate in Japan, as believed by many archaeologists.

A widely accepted theory of Native American origins coming from Japan has been attacked in a new scientific study, which shows that the genetics and skeletal biology simply does not match-up.

The findings, published on October 12, 2021, in the peer-reviewed journal PaleoAmerica, are likely to have a major impact on how we understand Indigenous Americans arrival to the Western Hemisphere.

Based on similarities in stone artifacts, many archaeologists currently believe that Indigenous Americans, or First Peoples, migrated to the Americas from Japan about 15,000 years ago.

It is thought they moved along the northern rim of the Pacific Ocean, which included the Bering Land Bridge, until they reached the northwest coast of North America.

From there the First Peoples fanned out across the interior parts of the continent and farther south, reaching the southern tip of South America within less than two thousand years.

The theory is based, in part, on similarities in stone tools made by the Jomon people (an early inhabitant of Japan, 15,000 years ago), and those found in some of the earliest known archaeological sites inhabited by ancient First Peoples.

But this new study, out today in PaleoAmerica the flagship journal of the Center for the Study of the First Americans at Texas A&M University suggests otherwise.

Carried out by one of the worlds foremost experts in the study of human teeth and a team of Ice-Age human genetics experts, the paper analyzed the biology and genetic coding of teeth samples from multiple continents and looked directly at the Jomon people.

We found that the human biology simply doesnt match up with the archaeological theory, states lead author Professor Richard Scott, a recognized expert in the study of human teeth, who led a team of multidisciplinary researchers.

We do not dispute the idea that ancient Native Americans arrived via the Northwest Pacific coastonly the theory that they originated with the Jomon people in Japan.

These people (the Jomon) who lived in Japan 15,000 years ago are an unlikely source for Indigenous Americans. Neither the skeletal biology nor the genetics indicate a connection between Japan and America. The most likely source of the Native American population appears to be Siberia.

In a career spanning almost half a century, Scott a professor of anthropology at the University of Nevada-Reno has traveled across the globe, collecting an enormous body of information on human teeth worldwide, both ancient and modern. He is the author of numerous scientific papers and several books on the subject.

This latest paper applied multivariate statistical techniques to a large sample of teeth from the Americas, Asia, and the Pacific, showing that quantitative comparison of the teeth reveals little relationship between the Jomon people and Native Americans. In fact, only 7% of the teeth samples were linked to the non-Arctic Native Americans (recognized as the First Peoples).

And, the genetics show the same pattern as the teethlittle relationship between the Jomon people and Native Americans.

This is particularly clear in the distribution of maternal and paternal lineages, which do not overlap between the early Jomon and American populations, states co-author Professor Dennis ORourke, who was joined by fellow human geneticists and expert of the genetics of Indigenous Americans at the University of Kansas, Jennifer Raff.

Plus, recent studies of ancient DNA from Asia reveal that the two peoples split from a common ancestor at a much earlier time, adds Professor ORourke.

Together with their colleague and co-author Justin Tackney, ORourke and Raff reported the first analysis of ancient DNA from Ice-Age human remains in Alaska in 2016.

Other co-authors include specialists in Ice-Age archaeology and ecology.

Shortly before publication of the paper, two other new studies on related topics were released.

A new genetics paper on the modern Japanese population concluded that it represents three separate migrations into Japan, rather than two, as previously believed. It offered more support to the authors conclusions, however, about the lack of a biological relationship between the Jomon people and Indigenous Americans.

And, in late September, archaeologists reported in another paper the startling discovery of ancient footprints in New Mexico dating to 23,000 years ago, described as definitive evidence of people in North America before the Last Glacial Maximumbefore expanding glaciers probably cut off access from the Bering Land Bridge to the Western Hemisphere. It remains unclear who made the footprints and how they are related to living Native Americans, but the new paper provides no evidence that the latter are derived from Japan.

Professor Scott concludes that the Incipient Jomon population represents one of the least likely sources for Native American peoples of any of the non-African populations.

Limitations of the study include that available samples of both teeth and ancient DNA for the Jomon population are less than 10,000 years old, i.e., do not antedate the early Holocene (when the First Peoples are understood to arrive in America).

We assume, the authors explain however, that they are valid proxies for the Incipient Jomon population or the people who made stemmed points in Japan 16,00015,000 years ago.

Reference: Peopling the Americas: Not Out of Japan' by G. Richard Scott, Dennis H. ORourke, Jennifer A. Raff, Justin C. Tackney, Leslea J. Hlusko, Scott A. Elias, Lauriane Bourgeon, Olga Potapova, Elena Pavlova, Vladimir Pitulko and John F. Hoffecker, 13 October 2021, PaleoAmerica.DOI: 10.1080/20555563.2021.1940440

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Genetics and Skeletal Biology Debunks Popular Theory of Native American Origins - SciTechDaily

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As a University of Victoria graduate student studying sea otters, Erin Foster spent many afternoons swimming through curtains of eelgrassa long ribbonlike plant that grows in underwater meadows. Herring spawn among the swaying grass, and smaller fish dart through the vegetation seeking shelter from hungry predators. Amid all this activity, sea otters scour the ocean floor for tasty clams and crabs. Eelgrass is what holds this ecosystem together, says Foster, who is now doing a postdoctorate with Fisheries and Oceans Canada.

Scientists have long understood that sea otters help maintain the health of kelp forests by curbing populations of voracious sea urchins. But a new study coauthored by Foster, who was supported by the Hakai Institute* throughout the research, shows that sea otters play an equally important role in eelgrass meadowsby shaping the genetics of the eelgrass itself.

While out in the field, Foster and her coauthor, Jane Watson, a biologist at Vancouver Island University in British Columbia, would frequently notice hundreds of little pits dotting the seafloor, creating bald spots in the otherwise dense eelgrass meadow. These gaps in the vegetation were the work of sea otters. While hunting for food, the sea otters were inadvertently digging up the eelgrass.

Watson had a hunch that by digging these pits, sea otters were shaping the meadow in an important way. Undisturbed, eelgrass primarily reproduces by cloning itself via rootlike rhizomes that sprout into new, genetically identical plants. While between roughly five and 10 percent of eelgrass shoots do flower and reproduce sexually, the resulting seedlings are often unable to compete with clones. Its not uncommon to see a meadow made up entirely or almost entirely of genetically identical eelgrass, Foster says. Disturbancesuch as a particularly forceful tide or a hungry sea otter tearing at eelgrass rhizomesforces eelgrass to flower at a much higher rate. New seedlings settle in the newly established gaps in the vegetation, and the meadow becomes more genetically diverse. Foster, Watson, and their colleagues wanted to know whether the sea otters were causing the eelgrass to shuffle its genes.

Pits dug by sea otters disturb eelgrass rhizomes, which spurs sexual reproduction of the eelgrass plants. Photo courtesy of the Hakai Institute

A century ago, the maritime fur trade largely wiped out sea otter populations along the west coast of North America. Reintroduction from the remaining pocket populations and rehabilitation efforts, as well as bans on hunting mean that sea otters have been able to rebound in some areas. The variability in sea otters growing populations gave the scientists a way to test their hypothesis. They collected eelgrass shoots from 15 different sites, six of which had been home to sea otters for at least 20 to 30 years, and three for less than 10 years. They also looked at six sites that had no sea otters and served as a control. The team highlighted 13 sections of eelgrass DNA, and analyzed how many varieties of each section they saw at each site.

The contrast was stark: eelgrasss genetic diversity at sites with long-established otter populations was up to 30 percent higher than at the sites without sea otters and those where the sea otters populations had only recently begun to rebuild.

Brent Hughes, a biologist at Sonoma State University in California who was not involved in this study, has spent much of his career studying how sea otters physically restructure their ecosystems. For him, the central question of the paper was revolutionary. This is a whole new lens, Hughes says. Sea otters are restructuring the genetics of the whole system.

This finding has important implications for the future of eelgrass in a rapidly changing world in which its threatened by warming waters, pollution, and disease throughout its range. If the one clone that spreads is weakened by disease or a grazer or pollution then the whole area is vulnerable, says Mary OConnor, an ecologist researching eelgrass at the University of British Columbia who was also not involved in the study. Genetic diversity ups the odds that at least one patch of grass will survive these stressors.

Researchers, Erin Foster and Jane Watson. Photo by Linda Nichol/Fisheries and Oceans Canada

Foster has reason to believe that a more diverse gene pool helped eelgrass survive past climatic change. The plant has evolved alongside sea otters for as long as 700,000 yearsenough time to have lived through multiple ice ages. Other megafaunal species, such as bottom-feeding grey whales, likely also encouraged the genetic diversity of these ecosystems in the past. To Foster, this suggests that eelgrass had enough diversity that it was able to adapt to rapidly changing conditions.

The return of sea ottersand the protection they offer to eelgrass ecosystemsis in humanitys best interest, OConnor says. Not only is eelgrass vulnerable to changes in its climate but it also plays a role in mitigating the effects of climate change. Healthy eelgrass meadows draw carbon out of the ocean and the atmosphere. Like coral reefs and mangroves, they protect coastlines against rising sea levels and storm surges. And then, of course, theres the sheer beauty of an eelgrass meadow.

At first, it just looks like a bunch of grass, OConnor says. If you actually just hold still and stand there for a few minutes, you realize that the eelgrass is teeming with animal life.

* The Hakai Institute and Hakai Magazine are both part of the Tula Foundation. The magazine is editorially independent of the institute and foundation.

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Sea Otters Are Reshaping the Genetics of Eelgrass Meadows - Hakai Magazine

Many variants in the human genome have been linked to type 2 diabetes, but because most do not lie within genes that code for proteins, its unclear how they might cause disease. Now an international team, including investigators at Massachusetts General Hospital (MGH), has developed a resource to help uncover the impact of these genetic variants.

The work, which is described inCell Reports, relies on the knolwedge that abnormalities in groups of pancreatic cells called islets, which produce and release hormones that regulate blood sugar levels, drive the development of type 2 diabetes. Unfortunately, however, its very difficult to obtain samples of human islets. To overcome this challenge, scientists from Spain, Belgium, Italy, Sweden, Finland, the UK, and the US banded together to obtain more than 500 human islet samples from patients with and without type 2 diabetes and to extract genomic and gene expression data from these samples. With these data, the researchers created what they named TIGER (for Translational human pancreatic Islet Genotype tissue-Expression Resource).

The research required collecting and examining an enormous amount of information, which was made possible through the use of supercomputing resources and new statistical methods.

Analyses of TIGER revealed that certain genetic variants in islets from patients with type 2 diabetes control the expression of particular genes. So far, 32 novel genes were identified that may contribute to type 2 diabetes risk.

This resource will be very useful to identify genes that may be related with the genetic variants that we have found associated with type 2 diabetes, says cosenior author Josep M. Mercader, PhD, a research-scientist at MGHs Diabetes Unit and Center for Genomic Medicine. Knowing the gene behind a given genetic association is the first step for identifyingpotential drug targets, or to better understand the physiology of different types of diabetes.

TIGERs data are publicly available and easily accessible to the diabetes research community through the TIGER web portal (tiger.bsc.es).

We are proud that we are now able to share this wealth of data to the scientific community in an easily accessible way for all researchers in the type 2 diabetes field, without the need of computational or bioinformatic expertise, says colead author Lorena Alonso, of the Barcelona Supercomputing Center, in Spain, one of the developers of the TIGER portal.

Reference: Alonso L, Piron A,Moran A et al. TIGER: The gene expression regulatory variation landscape of human pancreatic islets. Cell Reports. 2021. doi:10.1016/j.celrep.2021.109807.

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

Excerpt from:
New Resource Will Drive Research on the Genetics of Type 2 Diabetes - Technology Networks

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Genetics and the link to breast cancer | Mobile County Alabama News | fox10tv.com - FOX10 News

Bears take their porridge differently, and patients respond to drug treatments differently. At FameLab, genetics researcher Ifeolutembi Fashina explained how we can learn from a database of taste tests to perfect drug doses for patients in need.

Ifeolutembi Fashina entered the world of human genetics during her undergraduate degree at Trinity College Dublin. Then, after a couple of years in the industry, reporting adverse events in clinical trials, she joined the McCoy Lab at Royal College of Surgeons in Ireland (RCSI) under funding by Science Foundation Irelands Centre for Research Training in Genomics.

In her PhD research, Fashina is exploring how changes to human microRNAs could influence multiple sclerosis. But when she entered the FameLab science communication competition earlier this year, she tapped into her earlier research interests.

It was during her final-year project at Trinity, working in the lab of one of Irelands leading geneticists, Prof Aoife McLysaght, that Fashinas interest in bioinformatics was piqued.

Bioinformatics involves the use of software to understand and interrogate large, complex biological datasets. And Fashinas three-minute presentation on how drug and enzyme databases can be used to determine accurate medication doses for patients scored her third place in the recent FameLab Ireland final.

She said, I wanted to show that it is possible to use genetic information to solve a healthcare problem.

Now that we have done more genetic studies in humans, we can see how small changes to a persons genes can affect the way they break down pain medicine IFEOLUTEMBI FASHINA

I would say that it was more of a series of realisations than a spark. In secondary school, I enjoyed a broad range of subjects, but my favourites were maths, agricultural science, economics and biology. Since most of these were STEM leaning, it was expected that I would study medicine in university (in the typical Nigerian way). That was not what I wanted.

I became very invested in crime shows during this period, and read Forensic Science by Andrew and Julie Jackson. The use of genetic information to solve crime really captured my interest, and when I joined the human genetics programme in Trinity, the researchers in the department really opened my eyes to how many health problems we could address by understanding how genes work.

I noticed that when talking to my family and non-scientist friends, there were some ideas that I had encountered several times, but they had not come across at all. These would have been important updates in the scientific community, especially about the genetic basis of some common diseases. So I thought it would be interesting to try to talk about genes in a simple way and to hopefully give people some context when they are reading or hearing about new discoveries.

To prepare, I noted three points I wanted to make, and recorded myself talking around them. From those, I wrote multiple drafts of my talk. I had two friends and my mum (a non-scientist) listen to the talk and give feedback. Two of my lab-mates, Conor Duffy and Remsha Afzal, are FameLab alumni, so their support and that of my PhD supervisors and our lab members helped my journey too.

Ive loved learning from the other participants, especially the way they tell their stories so differently but also effectively. I also appreciated getting feedback from the judges in the regional heats, especially Phil Smyth, and guidance from Jonathan McCrea and Malcolm Love in the masterclass.

Clinicians and scientists have known for a while now that drugs are not one-size-fits-all. On the other hand, many patients experience severe pain, so they need adequate pain relief.

Now that we have done more genetic studies in humans, we can see how small changes to a persons genes can affect the way they break down pain medicine. That means that we can use those genetic changes to predict which dose or painkillers will work for them best.

Explaining concepts without introducing too many technical terms is challenging, so I try to use analogies and to focus on one concept at a time.

I think the process of updating ideas that the public has already accepted might be a bit tricky. I would like for people to think of scientific facts as being the consensus as we understand so far, pending better, well-replicated evidence. So that means that when we have better evidence, the story could change, but it does not mean that the first story was wrong. Its just more like a building block.

Dont miss out on the knowledge you need to succeed. Sign up for the Daily Brief, Silicon Republics digest of need-to-know sci-tech news.

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Like Goldilocks, genetics research can find the dose that's just right - Siliconrepublic.com

A little over a decade ago, a clutch of scientific studies was published that seemed to show that survivors of atrocities or disasters such as the Holocaust and the Dutch famine of 1944-45 had passed on the biological scars of those traumatic experiences to their children.

The studies caused a sensation, earning their own BBC Horizon documentary and the cover of Time (I also wrote about them, for New Scientist) and no wonder. The mind-blowing implications were that DNA wasnt the only mode of biological inheritance, and that traits acquired by a person in their lifetime could be heritable. Since we receive our full complement of genes at conception and it remains essentially unchanged until our death, this information was thought to be transmitted via chemical tags on genes called epigenetic marks that dial those genes output up or down. The phenomenon, known as transgenerational epigenetic inheritance, caught the public imagination, in part because it seemed to release us from the tyranny of DNA. Genetic determinism was dead.

A decade on, the case for transgenerational epigenetic inheritance in humans has crumbled. Scientists know that it happens in plants, and weakly in some mammals. They cant rule it out in people, because its difficult to rule anything out in science, but there is no convincing evidence for it to date and no known physiological mechanism by which it could work. One well documented finding alone seems to present a towering obstacle to it: except in very rare genetic disorders, all epigenetic marks are erased from the genetic material of a human egg and sperm soon after their nuclei fuse during fertilisation. The [epigenetic] patterns are established anew in each generation, says geneticist Bernhard Horsthemke of the University of Duisburg-Essen in Germany.

Even at the time, sceptics pointed out that it was fiendishly difficult to disentangle the genetic, epigenetic and environmental contributions to inherited traits. For one thing, a person shares her mothers environment from the womb on, so that persons epigenome could come to resemble her mothers without any information being transmitted via the germline, or reproductive cells. In the past decade, the threads have become even more tangled, because it turns out that epigenetic marks are themselves largely under genetic control. Some genes influence the degree to which other genes are annotated and this shows up in twin studies, where certain epigenetic patterns have been found to be more similar in identical twins that in non-identical ones.

This has led researchers to think of the epigenome less as the language in which the environment commands the genes, and more as a way in which the genes adjust themselves to respond better to an unpredictable environment. Epigenetics is often presented as being in opposition to genetics, but actually the two things are intertwined, says Jonathan Mill, an epigeneticist at the University of Exeter. The relationship between them is still being worked out, but for geneticist Adrian Bird of the University of Edinburgh, the role of the environment in shaping the epigenome has been exaggerated. In fact, cells go to quite a lot of trouble to insulate themselves from environmental insult, he says.

Whatever that relationship turns out to be, the study of epigenetics seems to reinforce the case that its not nature versus nurture, but nature plus nurture (so genetic determinism is still dead). And whatever the contribution of the epigenome, it doesnt seem to translate across generations.

All the aforementioned researchers rue the fact that transgenerational epigenetic inheritance is still what most people think of when they hear the word epigenetics, because the past decade has also seen exciting advances in the field, in terms of the light it has shed on human health and disease. The marks that accumulate on somatic cells that is, all the bodys cells except the reproductive ones turn out to be very informative about these, and new technologies have made it easier to read them.

Different people define epigenetics differently, which is another reason why the field is misunderstood. Some define it as modifications to chromatin, the package that contains DNA inside the nuclei of human cells, while others include modifications to RNA. DNA is modified by the addition of chemical groups. Methylation, when a methyl group is added, is the form of DNA modification that has been studied most, but DNA can also be tagged with hydroxymethyl groups, and proteins in the chromatin complex can be modified too.

Researchers can generate genome-wide maps of DNA methylation and use these to track biological ageing, which as everyone knows is not the same as chronological ageing. The first such epigenetic clocks were established for blood, and showed strong associations with other measures of blood ageing such as blood pressure and lipid levels. But the epigenetic signature of ageing is different in different tissues, so these couldnt tell you much about, say, brain or liver. The past five years have seen the description of many more tissue-specific epigenetic clocks.

Mills group is working on a brain clock, for example, that he hopes will correlate with other indicators of ageing in the cortex. He has already identified what he believes to be an epigenetic signature of neurodegenerative disease. Were able to show robust differences in DNA methylation between individuals with and without dementia, that are very strongly related to the amount of pathology they have in their brains, Mill says. Its not yet possible to say whether those differences are a cause or consequence of the pathology, but they provide information about the mechanisms and genes that are disrupted in the disease process, that could guide the development of novel diagnostic tests and treatments. If a signal could be found in the blood, say, that correlated with the brain signal theyve detected, it could form the basis of a predictive blood test for dementia.

While Bird and others argue that the epigenome is predominantly under genetic control, some researchers are interested in the trace that certain environmental insults leave there. Smoking, for example, has a clear epigenetic signature. I could tell you quite accurately, based on their DNA methylation profile, if someone was a smoker or not, and probably how much they smoked and how long they had smoked for, says Mill.

James Flanagan of Imperial College London is among those who are exploiting this aspect of the epigenome to try to understand how lifestyle factors such as smoking, alcohol and obesity shape cancer risk. Indeed, cancer is the area where there is most excitement in terms of the clinical application of epigenetics. One idea, Flanagan says, is that once informed of their risk a person could make lifestyle adjustments to reduce it.

Drugs that remodel the epigenome have been used therapeutically in those already diagnosed with cancer, though they tend to have bad side-effects because their epigenetic impact is so broad. Other widely prescribed drugs that have few side-effects might turn out to work at least partly via the epigenome too. Based on the striking observation that breast cancer risk is more than halved in diabetes patients who have taken the diabetes drug metformin for a long time, Flanagans group is investigating whether this protective effect is mediated by altered epigenetic patterns.

Meanwhile, the US-based company Grail which has just been bought, controversially, by DNA sequencing giant Illumina has come up with a test for more than 50 cancers that detects altered methylation patterns in DNA circulating freely in the blood.

Based on publicly available data on its false-positive and false-negative rates, the Grail test looks very promising, says Tomasz K Wojdacz, who studies clinical epigenetics at the Pomeranian Medical University in Szczecin, Poland. But more data is needed and is being collected now in a major clinical trial in the NHS. The idea is that the test would be used to screen populations, identifying individuals at risk who would then be guided towards more classical diagnostic procedures such as tissue-specific biopsies. It could be a gamechanger in cancer, Wojdacz thinks, but it also raises ethical dilemmas, that will have to be addressed before it is rolled out. Imagine that someone got a positive result but further investigations revealed nothing, he says. You cant put that kind of psychological burden on a patient.

The jury is out on whether its possible to wind back the epigenetic clock. This question is the subject of serious inquiry, but many researchers worry that as a wave of epigenetic cosmetics hits the market, people are parting with their money on the basis of scientifically unsupported claims. Science has only scratched the surface of the epigenome, says Flanagan. The speed at which these things happen and the speed at which they might change back is not known. It might be the fate of every young science to be misunderstood. Thats still true of epidenetics, but it could about to change.

Until recently, sequencing the epigenome was a relatively slow and expensive affair. To identify all the methyl tags on the genome, for example, would require two distinct sequencing efforts and a chemical manipulation in between. In the past few years, however, it has become possible to sequence the genome and its methylation pattern simultaneously, halving the cost and doubling the speed.

Oxford Nanopore Technologies, the British company responsible for much of the tracking of the global spread of Covid-19 variants, which floated on the London Stock Exchange last week, offers such a technology. It works by pushing DNA through a nanoscale hole while current passes either side. DNA consists of four bases or letters A, C, G and T and because each one has a unique shape in the nanopore it distorts the current in a unique and measurable way. A methylated base has its own distinctive shape, meaning it can be detected as a fifth letter.

The US firm Illumina, which leads the global DNA sequencing market, offers a different technique, and chemist Shankar Balasubramanian of the University of Cambridge has said that his company, Cambridge Epigenetix, will soon announce its own epigenetic sequencing technology one that could add a sixth letter in the form of hydroxymethyl tags.

Protein modifications still have to be sequenced separately, but some people include RNA modifications in their definition of epigenetics and at least some of these technologies can detect those too meaning they have the power to generate enormous amounts of new information about how our genetic material is modified in our lifetime. Thats why Ewan Birney who co-directs the European Bioinformatics Institute in Hinxton, Cambridgeshire, and who is a consultant to Oxford Nanopore, says that epigenetic sequencing stands poised to revolutionise science: Were opening up an entirely new world.

Read more here:
Epigenetics, the misunderstood science that could shed new light on ageing - The Guardian

The company is leveraging success with its COVID-19 tests to position itself better for a post-pandemic world. Key Points

Fulgent Genetics' (NASDAQ:FLGT) sales soared thanks to its COVID-19 tests. Its stock more than quadrupled in 2020 and is up over 50% so far this year. In this Motley Fool Live video recorded on Sept. 29, 2021, Motley Fool contributors Keith Speights and Brian Orelli discuss what's going on now with Fulgent.

Keith Speights: Your thoughts on Fulgent Genetics, ticker is FLGT?

Brian Orelli: The company is still developing genetic tests, which was what they were doing before the pandemic. They're still doing COVID-19 testing, which is what they pivoted or added during the pandemic. Then they are using all that cash that they're getting from the COVID-19 to expand fairly quickly.

They bought a company that does more other types of tests for cancers, looking at imaging the tumors and that thing and looking at the chromosomes. I think that they are using that to expand their offerings, so now that they will be able to do genetic testing on the tumors, but also offer other services. That should make them a one-stop-shop for tumors.

They also did a deal with another company that has a predictive test, I believe, for cancer. They're partnering with that company. The other one was an acquisition where they just bought the whole testing facility to expand their offerings in cancer.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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What's Going on With Fulgent Genetics? - The Motley Fool