Category Archives: Genetics

Marine biologists at Scripps Institution of Oceanography at UC San Diego have created a line of sea urchins whose genetic makeup is fully mapped and can be edited to study human disease genes. The creation of these new research model organisms will accelerate the pace of marine biomedical research.

Sea urchins, like fruit flies or lab rats, have been an organism used in research for more than a century. Even before this breakthrough, sea urchins led to the discovery of a protein family known as cyclins that guides division of cells. That knowledge went on to become the basis of current cancer treatments and earned cyclins discoverers a Nobel Prize.

Now Scripps marine biologist Amro Hamdoun and colleagues have taken this research to a new level by developing lines of sea urchins that can be used as genetic models using the gene editing technology known as CRISPR. The modified sea urchins are derived from the fast-growing species, Lytechinus pictus, also known as the painted sea urchin.

The team describes its results June 6 in the journal Development.

Hamdoun said the new sea urchins could serve as a new workhorse organism in marine biomedical research, capable of being cultivated to adulthood in four to six months at room temperature. Presently many species of sea urchins are used around the world to study the developmental origins of diseases, and the effects of pollutants on human and marine health. But few can be grown in the lab and genetically modified like other lab animals. Having this new genetically enabled urchin could dramatically enhance the efficiency, reproducibility, and utility of those studies.

Sea urchins have long been a favorite model organism for marine biologists, but they have been bottlenecked by not having stable genetics, Hamdoun said. This work breaks that final barrier. This genetically enabled urchin will be an important resource for the large community of researchers who use urchins in their labs.

The research was an unexpected silver lining from the COVID pandemic which impacted operations in research labs around the country for more than two years. In the case of Hamdouns lab, team members developed a sense of mission that motivated them to continue with the work.

It gave us something positive to focus on, Hamdoun said. The team spent two years intently focused on solving the barriers to making a genetically enabled sea urchin. Once we figured out how to make the precise modifications we wanted, we next had to figure out how to efficiently culture the urchins and select the modified animals. It is a real testament to the groups dedication that they accomplished this despite the adverse circumstances. I like to think that while many people were home growing cool things like houseplants or sourdough starters, we were also growing something interesting, but it was a biomedical research animal.

Besides Hamdoun, co-authors of the study included Himanshu Vyas, Jose Espinoza, Catherine Schrankel, Kasey Mitchell, Katherine Nesbit, Elliot Jackson, Nathan Chang, Yoon Lee, and Deirdre Lyons of Scripps Oceanography as well as researchers from University of North Carolina Charlotte and Wilmington campuses.

The National Institutes of Health Program on Oceans and Human Health and the National Science Foundation funded the research.

Link:
Genetics Breakthrough in Sea Urchins to Aid in Biomedical Research - Scripps Institution of Oceanography

The novel coronavirus SARS-CoV-2, which causes COVID-19, has caused millions of infections worldwide. As time has passed, it has become increasingly clear that COVID-19 is not a cookie-cutter disease.

People vary significantly in their susceptibility to infection, symptoms, and disease severity. Certain risk factors clearly play a role. Could genetics also play a part?

Researchers are examining the role of genetics in peoples reactions to the virus. While far from conclusive, data indicates that some of your genes may influence how SARS-CoV-2 affects your health.

Read on to learn what research has uncovered.

To look for genes that may influence the impact of COVID-19, geneticists scan the DNA of large study groups. This helps them find and identify connections between specific DNA sequences and disease characteristics.

Early genetic studies have uncovered compelling clues that certain genomic variants and blood types may play a role in how people react to the SARS-CoV-2 virus.

Angiotensin-converting enzyme 2 (ACE2) receptors are proteins found on the surface of certain cells. ACE2 receptors generate other proteins that regulate cell function. ACE2 receptors also allow the SARS-CoV-2 virus to enter your cells.

ACE2 receptors are located in the lungs, blood vessels, kidneys, and other parts of the body. They help regulate blood pressure, wound healing, and inflammation.

Everyone has ACE2 receptors, but their amount and locations vary. Multiple studies, including a 2021 study reported in the European Journal of Medical Research, found a link between ACE2 levels and vulnerability to COVID-19.

The same study also found that people with a specific type of genetic variation in ACE2 are at higher risk of SARS-CoV-2 infection. Another finding was a heightened susceptibility to SARS-CoV-2 infection in men compared to women.

Cytokines are proteins released by cells. Cytokines help cells communicate with each other. They also work to regulate inflammation and the bodys immune response to infection.

A cytokine storm is an overreaction of the immune system to infection from an invading host, such as SARS-CoV-2. During a cytokine storm, your cells release too many cytokines. This causes high levels of inflammation and the overactivation of certain immune cells.

The results of a cytokine storm can be severe and include tissue damage, organ failure, and sometimes death.

A review of multiple studies found that several genetic variants in cytokine genes may be related to cytokine storm and disease severity. Studies also found that these variants might be related to COVID-19 complications, including venous thrombosis.

A large study analyzed genes found along a stretch of chromosome 3. The study found compelling information about specific genes and their potential impact on respiratory failure caused by COVID-19.

Researchers identified a gene cluster on chromosome 3 linked to susceptibility to respiratory failure in COVID-19 patients. According to researchers, the gene cluster confirmed that ABO blood type played a role, indicating a higher risk for respiratory failure from COVID-19 for people with type A blood.

The HLA gene helps regulate your bodys immune response. Decades of research have found that people with certain HLA alleles (slight gene mutations, or variations) are prone to various autoimmune, inflammatory, and malignant diseases. Scientists call this phenomenon HLA disease association.

A 2021 review found that people with certain HLA alleles were more vulnerable to COVID-19 and severe illness than the general population.

If you were assigned male at birth, you might be at higher risk for serious illness from COVID-19. While some data points to lifestyle factors more common in men (such as smoking or drinking alcohol), genetic factors are also at play.

Men tend to express higher amounts of ACE2, making them more susceptible to COVID-19. A 2021 study suggests that this alone doesnt account for the difference in response.

The study also highlights genes present in men that might make them more prone to infection and genes present in women that may help them fight off infection.

There are also genes on the X-chromosome that influence your immune response. There are about 55 times as many of these genes on the X-chromosome as on the Y-chromosome.

As men only have one copy of the X-chromosome, variants in genes on this chromosome may have a greater effect on how COVID-19 progresses.

Its also important to remember that genetic traits are sometimes clustered among people with the same nationality, ethnicity, or culture. This can skew study results, especially in places where poor living conditions or poverty are factors.

Still, three 2021 studies (1, 2, 3) state that we cant ignore ethnic differences in COVID-19 susceptibility. Some genes that influence the course of COVID-19, such as HLA alleles, are more prevalent in certain ethnicities.

Another study noted that Black people tend to have more variations in the genes that affect ACE2.

Again, more research is needed before we fully understand the true impact.

COVID-19 is known to present with a wide variety of symptoms. While some symptoms are common, the virus tends to affect people in many different ways. Your genetics may play a role here too.

A 2021 study linked COVID-19 with altered gene expression in specific tissues or cells. This suggests that certain genetic variations may make you more likely to experience certain symptoms.

The study also noted that some of the genes they studied were also linked to ethnicity. This means that some symptoms may be more common in certain ethnic groups.

Researchers and geneticists are sharing their findings on genetics and COVID-19 through the COVID-19 Host Genetics Initiative.

As more studies take place, the biological pathways that affect your susceptibility or natural immunity to this disease may become more apparent.

This research may help generate new types of drugs that can treat COVID-19. It may also help determine why some people have a severe reaction to infection, and others experience mild to no symptoms.

While exciting and compelling, its important to remember that the research on genetics and COVID-19 is still new. We need more research before we can fully understand the impact of genes on this disease.

Knowing your risk factors can help you make decisions concerning exposure to the virus. Risk factors for COVID-19 and severe symptoms include:

No gene makes you fully immune to COVID-19. No matter what your own risk may be, these measures can help protect you from infection:

A growing body of evidence has linked certain genes and gene mutations to COVID-19 susceptibility. While compelling, this information is still new. We need more research to fully understand how our genes affect our response to the coronavirus.

As this body of science grows, it may better inform us on how to treat or even prevent COVID-19.

Read more:
Genetic Susceptibility to COVID-19: What We Know So Far - Healthline

By Lauren Sausser | Kaiser Health News | Word In Black

(WIB) Quenton Tompkins family tree is deeply rooted in rural McCormick County, South Carolina.

His grandfather was a sharecropper in McCormick. His mother, who turns 88 this month, grew up as the youngest of 24 children. Branches of aunts, uncles, and cousins now stretch from Florida to Chicago.

And although 48-year-old Tompkins has heard plenty of stories, his family holds its secrets, too.

He didnt know until he was an adult that his grandfather died of leukemia. And hes still unsure if his fathers bout with prostate cancer runs in the family. Tompkins mother and her siblings have dealt with a range of health issues, including diabetes, heart attacks, and strokes, but he still doesnt know what killed his grandmother more than 70 years ago.

Those are questions I go through personally, said Tompkins,a lobbyistfor the Medical University of South Carolina. Theres another side to knowing where you come from.

Twenty-two years ago, PresidentBill Clinton announcedthe completion of adraft versionof the Human Genome Project, a breakthrough he described as the language in which God created life. He predicted that scientists, armed with genetics discoveries, would find cures for Alzheimers disease, cancer, Parkinsons disease, and diabetes in the coming years.

Clintons prediction, of course, hasnt yet come to pass. But researchers in Charleston are hopeful that a large genetics research project underway across South Carolina may help scientists address some of the states persistent health disparities, which disproportionately impact its Black residents and regularly rank among the nations worst.

Its not only history feeding medical distrust. Bias and racism evident in medicine today contribute to the problem.

The university health system intends to enroll 100,000 of South Carolinas 5 million residents in genetic testing over the next four years in hopes of better understanding how DNA influences health. Researchers also want to recruit participants who reflect the diversity of the states population.

Its an ambitious goal. With nearly 27% of South Carolina residents identifying as Black or African American, the MUSC genetics research project, calledIn Our DNA SC,would ifsuccessful accomplish something most other genetics research projects have failed to do. Historically, diverse participation in this type of research has been very low.

Theres a trust factor. Its plain and simple, said Tompkins, who is developing an outreach program for the project. He referencedHenrietta Lacks, a Black woman in Baltimore whose cells were used without her or her familys knowledge for research purposes by doctors at Johns Hopkins University in the 1950s, and theTuskegee syphilis study, conducted over nearly 40 years starting in the 1930s. Researchers deceived hundreds of Black men enrolled in the study, telling them they were being treated for syphilis when, in fact, they were left untreated, even after penicillin became widely available.

Those are still fresh in many peoples minds, Tompkins said. Weve come a long way from those stories it doesnt dismiss what happened but there are a lot more controls and oversight in place to ward those things off from happening again. But its not only history feeding this distrust.Bias and racism evident in medicine todaycontribute to the problem.

Diversity in genetics research is so low that approximately 90% of participants in projects launched since the first sequencing of the human genome have been individuals of European descent or those who identify as white, saidDr. Shoa Clarke, a pediatric cardiologist and geneticist at Stanford University.

Genetics is not the cause of health disparities. But as we move toward using genetics in clinical settings, its very possible they could create new disparities.

These numbers affect real-life health care. Clarke and otherspublished researchlast year showing that a DNA-based tool used to assess a patients risk of developing high cholesterol works reliably well only when administered to those of Northern European descent. Thats because the tool was developed using information from genetic bio-banks largely made up of DNA from white people. And aside froma large DNA bankcompiled by the Department of Veterans Affairs, this is generally the norm.

Human beings, regardless of race, are more than 99% genetically identical, but small variations and mutations passed down through generations can influence health outcomes in huge ways, Clarke explained.

Genetics is not the cause of health disparities, he said. But as we move toward using genetics in clinical settings, its very possible they could create new disparities.

In South Carolina, health disparities between Black and white patients are already acute, saidMarvella Ford, a researcher at MUSCs Hollings Cancer Center in Charleston.

South Carolina compared to the rest of the country were usually in the bottom tier, Ford said. Theprostate cancer mortality ratein South Carolina, for example, is two and a half times higher for Black men than white men, she said.

When you look at most other chronic conditions, she said, you see the same thing.

She called the genetics project at MUSC a great opportunity to open the doors. Even so, the topic of recruiting Black research participants for genetics studies is complex. Theres debate on how we should be doing this work, saidShawneequa Callier, an attorney and an associate professor of bioethics at George Washington University. Theres just so much diversity in Africa. Its the cradle of humanity.

Categorizing genetics research participants simply as Black or African American, without more context, may not yield particularly useful research insights.

Men and women transported to Charleston and other American port cities during the transatlantic slave trade came from a wide region of Africa mostly from West Central Africa, but in large numbers from regions farther north, too. Once in America, they were often separated and forced hundreds of miles apart. This explains why someone whose ancestors lived on one of South Carolinas barrier islands may have inherited different genetic variants than someone from a multigenerational Black family inland in McCormick County, just north of Augusta, Georgia.

Thats also why categorizing genetics research participants simply as Black or African American, without more context, may not yield particularly useful research insights, Callier said.

If you dont study the data and study it well, thats a real dereliction of ethical duty, Callier said.

Those who choose to participate in the MUSC project stand to benefit from it directly, its organizers said. After submitting a saliva sample, each participant will receive a report indicating if they have one or more of three genetic conditions that may put them at a higher risk for heart disease and certain cancers such as one of theBRCA mutationslinked to breast cancer. If they test positive for one of these conditions, they will be connected at no cost to a genetics counselor, who can assist with information and treatment options related to a patients inherited risks. Participants will also learn where their ancestors likely lived.

The de-identified DNA data will then be used by researchers at MUSC, as well as those at Helix, a private California-based genomics company, which will process the saliva samples and extract the genetic information from each participants sample. Researchers at MUSC and Helix have indicated they hope to use the results to better figure out how DNA affects population health. Heather Woolwine, an MUSC spokesperson, said the project will cost $15 million, some of which will be paid to Helix. Hospital revenue will fund the research, she said.

You have to build those relationships and find community champions that can help you open doors and gather people.

Tompkins expects to receive a lot of questions about how it all will work. But hes used to questions. He said he encountered much of the same hesitancy when he helped set up MUSC covid testing and vaccine sites across the state. Many people regardless of race worried microchips or tracking technology had been embedded into the covid vaccines, he said.

Tompkins found that the key to persuading residents in rural parts of the state to consider the covid vaccine was to seek out invitations from trusted, local leaders, then set up events with them. South Carolinas covid vaccination rate remains lower than the national average, but Tompkins said some skeptics have been more receptive to MUSCs message because the hospital system has focused on building relationships with organizers outside Charleston. He hopes to use those relationships to spread word about the new genetics research project.

You have to build those relationships and find community champions that can help you open doors and gather people, he said. Then, its about letting them choose.

KHN(Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation).KFFis an endowed nonprofit organization providing information on health issues to the nation.

Related

Read more here:
Addressing the Trust Factor: South Carolina Researchers Tackle Health Disparities Via Genetics - Sacramento Observer

Bionano Genomics

The Long String VANTAGE for DNA isolation, a collaborative development between Bionano and Hamilton, and the worlds first automation solution for Ultra High Molecular Weight (UHMW) extraction used in optical genome mapping (OGM), will be on display at the conference

A corporate satellite presentation by Dr. Detlef Trost, Laboratoire CERBA, and Dr. Alexander Hoischen, Radboud UMC, will cover the latest research on OGM for rare undiagnosed genetic disease (RUGD) discovery

Three featured scientific presentations, one each by Dr. Claudia Carvalho, Pacific Northwest Research Institute, Dr. LalaEl Khattabi, Hpital Cochin, and Dr. Kornelia Neveling, Radboud UMC, will cover the use of OGM in research on complex genomic rearrangement structures, characterization of structural variations (SVs), and on repeat expansion disorder testing, respectively

9 scientific poster presentations and e-posters will illustrate the application of Bionanos OGM solutions in constitutional disorders and RUGD diagnosis

SAN DIEGO, June 10, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced its participation at theEuropean Society of Human Genetics (ESHG) 2022 Conference, with 13 scientific and poster presentations highlighting the application of OGM across rare undiagnosed genetic disease and genetic disorders. Additionally, Bionano and Hamilton will present the Long String VANTAGE, the worlds first automation solution for UHMW extraction used in OGM.

ESHG is an annual conference that brings together industry and academic professionals to discuss new technologies and advances in the field of human genetics. ESHG sessions will take placeJune 11-14, 2022 virtually and in Vienna, Austria.

Bionano and Hamilton jointly announced the Long String VANTAGE, which is the first Assay Ready Workstation solution in Hamiltons Long String Genomics product program which supports extraction of UHMW DNA at increased scale. Attendees at ESHG will be able to learn more about the Long String VANTAGE at both companies booths and can experience a demonstration of the workflow at Hamiltons booth throughout the conference.

Story continues

As part of a corporate satellite presentation, Dr. Detlef Trost from Laboratoire CERBA, and Dr. Alexander Hoischen from Radboud UMC, will share their latest research on OGM for RUGD.

Three genomics researchers will participate in separate featured scientific presentations, highlighting use of OGM in genetic disorder testing. Dr. Claudia Carvalho of the Pacific Northwest Research Institute will present on complex genomic rearrangement structures (CGRs) in neurodevelopmental disorders. Dr. LalaEl Khattabi will present on a recent study highlighting the OGM in the characterization of complex SVs. Dr. Kornelia Neveling from Radboud UMC will present on repeat expansion disorder testing using OGM.

Scientific presentations and poster sessions from Bionano and customers include:

Room

Title

Presenter

Presented

ACV, Room G, Level-2

See More, Know More: How OGM Provides Answers for Rare Undiagnosed Genetic Disease

Trost D., Hoischen A., Delpu Y.

June 11, 202210:00-11:30 CEST

Hall E-2, Concurrent Symposia S05

S05.2: Identification of Complex Genomic Rearrangement Structures in Disease

Carvalho C.

June 12, 20228:30-10:00 CEST

Hall E2-Workshop: Whats New in Cytogenomics?

W12: Optical Genome Mapping Enables Next-Generation Cytogenetics

El Khattabi L.

June 13, 202214:00-15:30 CEST

Hall E2- Concurrent Sessions C27

C27.3: Optical Genome Mapping for Repeat Expansion Disorder Testing

Neveling K.

June 14, 202211:00-12:30 CEST

Poster

Title

Author

Presented

P15.004.A

Structural and copy number variant detection, filtering, annotation, and classification by optical genome mapping in constitutional disorders

Delpu Y.

Poster Session June 12, 202213:00-14:00 CEST

P11.010.A

FSHD analysis pipeline by Bionano optical genome mapping: A field report

Heinrich U.

Poster Session June 12, 202213:00-14:00 CEST

P13.107.A

An insertion in the MSH2 gene detected by Bionano optical mapping and confirmed by Nanopore sequencing in a family with suspected Lynch Syndrome

Aalkken R.

Poster Session June 12, 202213:00-14:00 CEST

P09.027.C

Optical genome mapping analysis of FMR1 expansions in fragile X syndrome and multi-site validation

Venier A.

Poster Session June 13, 202212:45-13:45 CEST

P15.003.D

Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement

Jaber D.

Poster Session June 13, 202215:45-16:45 CEST

P16.020.D

Optical genome mapping in routine human genetic diagnostics: Lessons learned

Dremsek P.

Poster Session June 13, 202215:45-16:45 CEST

P16.032.D

Optical Genome Mapping as a diagnostic tool in cases of unresolved rare diseases

Trost D.

Poster Session June 13, 202215:45-16:45 CEST

EP15.018

A paracentric inversion that disrupts the SHANK2 gene resolved using cytogenomics

Huyghebaert J.

E-Poster

EP15.002

Recurrent constitutional chromosome five inversion revisited

Doco-Fenzy M.

E-Poster

More details on the conference can be found here.

We are thrilled to see the broad range of presentations featuring OGM at ESHG this year. These institutions and their research teams have conducted innovative research to help demonstrate the potential utility of OGM as a more sensitive, faster and less expensive alternative to traditional cytogenetics methods, commented Erik Holmlin, president and chief executive officer of Bionano. We are also excited for attendees to learn more about our collaboration with Hamilton and the Long String VANTAGE automation system. We believe this innovation can significantly reduce time to results, reduce hands on time and improve OGM performance by standardizing the process of UHMW DNA isolation, and we look forward to sharing more at ESHG.

About Bionano Genomics

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

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as believe, potential, can, will, 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 potential contribution of our OGM solutions to offer the anticipated benefits for and contributions to the areas reported in the presentations given and posters made available at the ESHG Annual Meeting; anticipated benefits and improvements resulting from the use of Long String VANTAGE to reliably and consistently isolate high quality and sufficient quantity of UHMW DNA for use with OGM . Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive technologies or improvements to existing technologies; the ability of our OGM solutions to offer the anticipated benefits for and contributions to the areas of research reported in the presentations given and posters made available at the ESHG Annual Meeting; future study results contradicting the results reported in the presentations given and posters made available at the ESHG Annual Meeting; the ability of Long String VANTAGE system to reliably and consistently isolate high quality and sufficient quantity of UHMW DNA for use with OGM; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of 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, 2021 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

See original here:
Bionano Genomics Announces Participation at the European Society of Human Genetics Conference (ESHG) 2022 Featuring OGM Across a Broad Range of...

It has been more than two years since the start of the global COVID-19 pandemic. Throughout that time, for some people, the infections became more frequent and hit closer to home. Their friends contracted coronavirus, and sometimes their children, grandparents and most of their co-workers too. It seemed to be only a matter of time before they would contract the virus as well but their luck never ran out it seems as if some people have never been knowingly infected with COVID-19 in over two years even after the wave of infections caused by the highly transmissible omicron variant.

If you ask them the reason, you'll hear all sorts of suppositions. For example, regular long trips on the underground will build up your resistance by repeatedly exposing you to small viral loads.

"This hypothesis falls in the realm of speculation," says Dr. Ulf Dittmer, director of the Institute of Virology at Essen University Hospital in Germany.

Some people not previously infected attribute it to scrupulously following COVID-19 precautions. Others thank their lucky stars for not contracting the virus from a contact person who later tested positive or while they partied at a club. Still, others wonder if they had an asymptomatic infection that wasn't detected, for instance before testing was widely available. Or maybe they did have symptoms but tested negative because the sample was collected improperly or the timing was inopportune.

Scientific attempts at an explanation go deeper, but there's no single definitive answer as to why some people still haven't caught COVID-19. A combination of factors could be the reason.

"A number of hypotheses appear plausible," says Dr. Leif Erik Sander, director of the Department of Infectious Diseases and Respiratory Medicine at Charit University Hospital in Berlin.

First of all, it's important to bear in mind that a significant number of COVID-19 infections go largely or completely unnoticed. In a systematic review and meta-analysis published late last year in the Journal of the American Medical Association (JAMA) Network Open, the authors noted that about 40% of people with a confirmed COVID-19 diagnosis were asymptomatic at the time of the test. The finding was based on 95 international studies involving nearly 30 million people.

The frequency of testing obviously plays a role in detecting infections. If you're not tested regularly, there's a greater chance you won't become aware of a mild or asymptomatic infection.

And your genes can play a role too in whether or not you get COVID-19.

"There are people who, owing to genetic characteristics, can't easily be infected with malaria or HIV (the virus that causes AIDS), for instance. In certain gradations this will also be true of Sars-CoV-2," says Sander, adding that the genetic factors aren't completely understood, however.

As virologist Dittmer explains, human leukocyte antigens (HLA) molecules, which are encoded by a complex of genes, play an important part in the body's immune response to pathogens such as Sars-CoV-2. He adds that a person's blood group, too, not only influences disease severity but perhaps also susceptibility to infection with the virus.

The protection provided by vaccinations is probably often underestimated. Although levels of antibodies in your blood able to bind to and neutralize invading coronaviruses decline some time after injection with a vaccine, "protection nevertheless remains significant for months," Sander says. "That, too, reduces infections."

Immune responses to COVID-19 vaccines vary from person to person. "If the response is especially good, vaccination in combination with a previous infection with one of the four endemic common cold coronaviruses can also play a role," he suggests.

According to Dittmer, a particular subclass of antibodies has been found to provide especially good protection from a novel coronavirus infection. "Measuring them is complicated though, so for the time being no one will know whether they've got these antibodies or not," he says.

The fact that children who get COVID-19 tend to have either no or only mild symptoms is down to their generally having an innate immune response that's stronger than the immune response of adults, according to Sander. It's often "preactivated," so to say.

Another phenomenon worth mentioning is that for a few days after getting an infection, people are typically less susceptible to infection with another pathogen. "This is due in part to interferons, which are defensive proteins in mucous membranes that also reduce susceptibility to Sars-CoV-2 in the event of contact with it in that time window," Sander says.

He also notes that some people's immune system may rid their body of the virus very quickly: "In a Swedish study, researchers detected specific T-cells (a type of white blood cell that's part of the immune system) in people who didn't test positive after contact with infected household members a sign their immune system had indeed engaged Sars-CoV-2 even though an infection or antibodies against the virus weren't always detectable."

So what are we to conclude? If you think you've somehow managed to skirt a COVID-19 infection, you may already have one behind you. Or you may have benefited from certain temporary circumstances, as-yet-unexplained genetic factors and/or dumb luck.

"Just because you haven't had COVID-19 yet doesn't mean you're permanently safe," Sander warns. "A new coronavirus variant, or a different set of circumstances, can totally change that."

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The report studies the industry insights and examines how the next normal will look like. It is critical for the companies aspiring to grow. It is aimed at equipping investors, policymakers, well-established firms, start-up businesses, and other interested market participants with the information they need to understand about the Global Animal Genetics Market, providing a detailed market overview, Global Animal Genetics Market, and exploring key areas of the Global Animal Genetics Market. This report will aid market participants in identifying where and how to invest in the market, enabling them to analyze relevant Global Animal Genetics Market segments. The report looks at the risks and market opportunities along the Global Animal Genetics Market value chain, country-specific regulatory framework and policies and other Global Animal Genetics Market influencers.

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Around one in 500 men could be carrying an extra X or Y chromosome most of them unaware putting them at increased risk of diseases such as type 2 diabetes, atherosclerosis and thrombosis, say researchers at the universities of Cambridge and Exeter.

In a study published in Genetics in Medicine, researchers analysed genetic data collected on over 200,000 UK men aged 40-70 from UK Biobank, a biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants. They found 356 men who carried either an extra X chromosome or an extra Y chromosome.

Sex chromosomes determine our biological sex. Men typically have one X and one Y chromosome, while women have two Xs. However, some men also have an extra X or Y chromosome XXY or XYY.

Without a genetic test, it may not be immediately obvious. Men with extra X chromosomes are sometimes identified during investigations of delayed puberty and infertility; however, most are unaware that they have this condition. Men with an extra Y chromosome tend to be taller as boys and adults, but otherwise they have no distinctive physical features.

In todays study, the researchers identified 213 men with an extra X chromosome and 143 men with an extra Y chromosome. As the participants in UK Biobank tend to be healthier than the general population, this suggests that around one in 500 men may carry an extra X or Y chromosome.

Only a small minority of these men had a diagnosis of sex chromosome abnormality on their medical records or by self-report: fewer than one in four (23%) men with XXY and only one of the 143 XYY men (0.7%) had a known diagnosis.

By linking genetic data to routine health records, the team found that men with XXY have much higher chances of reproductive problems, including a three-fold higher risk of delayed puberty and a four-fold higher risk of being childless. These men also had significantly lower blood concentrations of testosterone, the natural male hormone. Men with XYY appeared to have a normal reproductive function.

Men with either XXY or XYY had higher risks of several other health conditions. They were three times more likely to have type 2 diabetes, six times more likely to develop venous thrombosis, three times as likely to experience pulmonary embolism, and four times more likely to suffer from chronic obstructive pulmonary disease (COPD).

The researchers say that it isnt clear why an extra chromosome should increase the risk or why the risks were so similar irrespective of which sex chromosome was duplicated.

Yajie Zhao, a PhD student at the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge, the studys first author, said: Even though a significant number of men carry an extra sex chromosome, very few of them are likely to be aware of this. This extra chromosome means that they have substantially higher risks of a number of common metabolic, vascular, and respiratory diseases diseases that may be preventable.

Professor Ken Ong, also from the MRC Epidemiology Unit at Cambridge and joint senior author, added: Genetic testing can detect chromosomal abnormalities fairly easily, so it might be helpful if XXY and XYY were more widely tested for in men who present to their doctor with a relevant health concern.

Wed need more research to assess whether there is additional value in wider screening for unusual chromosomes in the general population, but this could potentially lead to early interventions to help them avoid the related diseases.

Professor Anna Murray, at the University of Exeter, said: Our study is important because it starts from the genetics and tells us about the potential health impacts of having an extra sex chromosome in an older population, without being biased by only testing men with certain features as has often been done in the past.

Previous studies have found that around one in 1,000 females have an additional X chromosome, which can result in delayed language development and accelerated growth until puberty, as well as lower IQ levels compared to their peers.

The research was funded by the Medical Research Council.

ReferenceZhao, Y. et al. Detection and characterisation of male sex chromosome abnormalities in the UK Biobank study. Genetics in Medicine; 9 Jun 2022; DOI: 10.1016/j.gim.2022.05.011

Genetics in Medicine

Data/statistical analysis

People

Detection and characterisation of male sex chromosome abnormalities in the UK Biobank study

9-Jun-2022

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

Original post:
One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases - EurekAlert

The content on this website is current as of 28 February 2022. On that date, ClinVar had 1,943,225 submissions on 1,194,065 variants. When referencing data from this website, please cite the 2018 Human Mutation article "ClinVar Miner: Demonstrating utility of a Webbased tool for viewing and filtering ClinVar data" .

ClinVar Miner was developed by Alex Henrie in the Eilbeck Lab with support from the NHGRI's ClinGen Resources (grants U41 HG006834-01A1 to Heidi Rehm and U01 HG007437-01 to Jonathan Berg). Use of the NCBI logo represents use of NCBI data but does not constitute an approval or endorsement of this application. Source code is available on GitHub under the GNU General Public License.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.

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ClinVar Miner

Hypertension, or high blood pressure, means that the force of blood against the artery walls is higher than recommended levels. People with a family history of hypertension are more likely to develop the condition.

In adults, typical blood pressure measures 120/80 millimeters of mercury. Almost half of all adults in the United States have high blood pressure, which puts them at risk of cardiovascular disease, including stroke and heart attack.

Certain factors increase an individuals risk of developing hypertension, including age, weight, diet, and genetics.

Hypertension is a widespread problem affecting 47% of adults in the U.S. a figure that amounts to 116 million people. The condition affects 50% of males and 44% of females. However, only 1 in 4 have their hypertension under control. In 2019, the condition caused or contributed to more than 500,000 deaths.

Keep reading to learn more about hypertension, including the role genetics play in its development and other potential risk factors.

If an individual has family members with hypertension, they have an increased risk of developing the condition.

Hypertension can run in families because of shared genes, environments, and lifestyle habits. The risk increases even more if an individual with a genetic link to hypertension also engages in unhealthy lifestyle choices.

According to some research, when biological parents and grandparents have hypertension, there is a risk of the same condition occurring in their children and grandchildren. Specifically, the biggest risk is when individuals in a family develop hypertension before the age of 55 years. And this is independent of lifestyle factors, such as physical activity, alcohol intake, and a diet high in salt.

Research in twins and families has suggested that up to 3050% of the variance in blood pressure readings could be due to family history. It seems that genes play a role in hypertension, and family members can pass these genetic traits from one generation to the next.

However, genes are only part of the reason for heredity hypertension. Another factor is that people who live in common environments may eat the same non-nutritious diet or share habits such as smoking or drinking excessive alcohol. Along with genetics, these factors increase the likelihood of developing hypertension.

If an individual has a family history of hypertension, they should understand the risk factors for the condition and reduce them wherever possible.

Doctors refer to risk factors that someone can change as modifiable. An individual can work with their doctor to lower these risk factors as much as possible. This could involve maintaining a moderate weight, eating a nutritious diet, quitting cigarette smoking if applicable, and drinking less alcohol. Research has found that adhering to a healthy lifestyle has associations with lower blood pressure, regardless of underlying genetic risk.

Besides taking these steps, a doctor may suggest regular blood pressure monitoring so they can assess and address any changes in blood pressure over time.

Hypertension can occur in people for various reasons. It is important to note that in about 95% of cases, the cause of the condition is unknown.

Health experts do not fully understand what causes primary hypertension, which they also refer to as essential hypertension. In this type, people can develop high blood pressure over time. Additionally, there is no underlying cause for this increase. In contrast, secondary hypertension can result from other disorders that increase blood pressure.

Essential hypertension is complex many environmental and genetic factors contribute to its development. There are many genetic variations in humans that have links to essential hypertension. Examples might include genes that play a role in regulating the following:

This plays a role in regulating blood pressure in the body. Scientists believe that genetic changes in a person might impair their bodys ability to control blood pressure, and hypertension can occur.

Any changes to the genes that contribute to the typical functioning of the lining can lead to a difference in blood vessel structure and impair its abilities. Blood vessels might become narrower, which can result in high blood pressure.

Environmental factors can also contribute to the development of hypertension in some people.

Learn more about the causes of secondary hypertension.

Besides a family history of hypertension, various risk factors can increase an individuals likelihood of developing the condition.

The lifestyle risk factors for hypertension include:

Other risk factors for hypertension include:

A doctor will likely recommend lifestyle changes and medications if they diagnose someone with hypertension.

Lifestyle changes include:

An individual may also benefit from antihypertensive medications. They may use a single medication or combine two or more to control their blood pressure.

Depending on the individuals overall medical health, a doctor may prescribe one or more of the following:

Learn more about blood pressure medications.

Hypertension, or high blood pressure, is a common condition that can lead to serious health complications without treatment.

Experts believe there is a link between a family history of hypertension and the condition occurring. However, many factors contribute to the risk, including lifestyle, age, race or ethnicity, and other health conditions.

Making healthy lifestyle choices, such as maintaining a moderate weight, eating a nutritious diet, and getting regular exercise, can help reduce the risk of developing hypertension. If lifestyle changes are not enough to control blood pressure, a doctor may prescribe medication.

Read the rest here:
Genetics and hypertension: What is the link? - Medical News Today

It has been almost 44 years years since the first in vitro fertilisation (IVF) procedure was successfully performed in 1978 in Lancashire, England. Since then, more than 8 million babies have been born worldwide to assisted reproductive technologies, such as IVF.

But despite its increasing use, the success rate of IVF still remains relatively low, at around 30%. There may be a number of reasons for this. In our recent paper, we argue that this low rate is partially due to the many unfavourable genetic changes that we carry in our DNA.

Genetic changes happen when mutations in our genes replace, insert or delete sections of DNA. More of these mutations are occurring now in humans because were having babies at a later age. As we get older, more mutations are likely to accumulate meaning older parents are more likely to pass on genetic mutations to their children than younger parents. Mutations may also be caused by environmental factors (such as ultraviolet radiation in sunlight), or lifestyle choices (for example, smoking).

All of the genetic changes we inherit or develop throughout our lifetime constitute whats known as our genetic load. This genetic load can impact our ability to reproduce. And as our study suggests, this may also affect our ability to reproduce via methods such as IVF.

Genetic mutations make evolution possible. They provide the new material for natural selection that allows species to adapt and evolve. While most of these mutations have no effect, some are slightly harmful. Such harmful mutations may cause diabetes or breast cancer, for example or they may disrupt the healthy development of an embryo.

Human DNA carries more than 1,000 harmful mutations, most of which happened many generations ago. Yet, even though they are harmful, they have not (yet) been removed, because natural selection is a very slow process.

In addition to the large number of old mutations, new mutations also enter the population every generation. On average, every person acquires approximately 70 new mutations during their lifetime. But since some of these mutations are harmful, they need to be removed by natural selection, so that they arent passed on to future offspring. One of the most important times this happens is during natural conception.

When a child is conceived naturally, the body has many mechanisms in place to remove some of these harmful mutations.

For example, the female reproductive system is designed in such a way that only the fittest sperm cells can reach the egg for fertilisation. Although evidence is scarce, animal studies suggest that the sperm that reach the fertilisation site have a better DNA quality and potentially fewer mutations.

Mature eggs also undergo a sort of quality check during fertilisation. This too helps purge some of the genetic load. The implantation stage (where a fertilised embryo implants itself in the mothers womb) is also important, as many embryos with severe genetic abnormalities tend to be lost naturally during pregnancies.

However, IVF bypasses some of these natural mechanisms. During IVF, multiple eggs are harvested from the womans ovaries and fertilised with sperm in a laboratory. After they have been fertilised, the embryos are then returned to the womb. This reduces the opportunity for natural selection, which may therefore make IVF less efficient in reducing the genetic load. This could potentially increase the likelihood that harmful variants of genes may be passed onto the next generation.

So, the genetic load has two big implications for human reproduction. First, the genetic load of parents affects their ability to successfully reproduce. This is true both for natural conception, as well as for IVF. Second, by relaxing natural selection, IVF may let more mutations slip through the net. As such, it could slowly increase our genetic load in future generation. But there may be a solution.

Fertility rates have suffered an unprecedented decline in recent decades. In fact, sperm count has fallen by about 50 to 60% between 1973 and 2011. Its unclear why this is, but if this trend continues it could mean more people turn to IVF to conceive.

Yet we still know surprisingly little about human reproduction and the selective processes operating during natural conception. We must understand natural conception first if we want to improve assisted reproduction methods, including IVF. But recent technological advances in assisted reproductive technologies mean that we may soon be better able to counteract some of the genetic load in humans. For example selection at sperm level in the IVF process has been shown to improve the offspring fitness in animal models. In particular, selection of longer-lived sperm in zebrafish results in healthier offspring that live longer.

Advances in genomic technologies also have the potential to affect human evolution. Already, genomic data is effectively being used in clinical care, and the genomic bases of thousands of human diseases are now known. Furthermore, changes to our environment and our lifestyle are affecting the genetic load and human health. Most often, these changes have a negative effect, which makes these technological advances ever more important. As new advances are made, it will also be important to consider the potential consequences of using assisted reproductive technologies if these become the norm.

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IVF: heres how genetics may be affecting its success new insights - The Conversation Indonesia