Category Archives: Genetics

The same genes that sendpeople to the bathroom with an irritable bowel syndrome flare-up may be involved in future brain health, according to a new study. Researchers have found a genetic correlation between individuals with gastrointestinal tract (GIT) disorders and Alzheimer's disease (AD).

Analyzing years of genetic data from AD studies and similar data from six GIT disorders, the scientists at the Center for Precision Health at Edith Cowan University in Australia found that many disease-specific genes shared the same loci, or chromosomal location, in each group.

The researchers say it is the first comprehensive look at the genetic relationship between these disorders. Prior to this, it was widely believed that there was a link between gastrointestinal disorders and AD. A 2020 longitudinal study noted that people with irritable bowel disease were six times more likely to suffer from AD. But the gut-brain axis had not yet been examined on a genetic basis.

"The study provides a novel insight into the genetics behind the observed co-occurrence of AD and gut disorders," Emmanuel Adewuyi, PhD, MPH, said in an interview with EurekaAlert. Adewuyi, a postdoctoral research fellow at the Center for Precision Health at Edith Cowan University, led the study.

The authors say that understanding the underlying genetics of AD can provide clues about how the disease works, which is largely a mystery. Treatment of the disease is increasingly urgent in a world with growing life expectancy and incidence of AD. By 2030, over 82 million people will likely suffer from AD, according to the 2015 World Alzheimer's Report.

The Australian study relied upon previously performed genome-wide association studies. They searched data for patients with AD, gastroesophageal reflux disease, peptic ulcer disease, gastritis-duodenitis, irritable bowel syndrome, diverticulosis, and irritable bowel disorder.

The final cohort represented over 450,000 people. Of those analyzed, they found all the GIT disorders except irritable bowel disorder were correlated with AD.

One of the biological factors that underscored this relationship was the amount of abnormal cholesterol in both sets studied. From the study, It appears that altered cholesterol was a risk factor for both AD and gut disorders. Therefore, the authors suggest that next steps should investigate the use of statins, such as atorvastatin or lovastatin, which lower cholesterol to see whether they help protect the gut and, in turn, the brain.

Although these results point toward a correlation, the researchers caution that a causal relationship cannot be established between these two sets of disorders. The data advance the idea of the gut-brain axis but don't show that GI problems cause AD or vice versa. Nor do the findings mean that someone with AD will always have gut problems or that a person with gut problems will develop AD.

The authors suggest the role of diet in health maintenance. They specifically highlight the Mediterranean diet, which is rich in natural fats and vegetables.

The study was independently supported. The authors report no relevant financial relationships.

Commun Biol. Published online July 18, 2022. Full text

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Genetic Link Adds to Gut-Brain Axis Theory in Alzheimer's Disease - Medscape

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Farm Animal Genetics Market 2022 Comprehensive Insights, Growth and Forecast 2028 | Genus PLC, Hendrix Genetics, EW Group, Zoetis This Is Ardee -...

Although normal variations in height are common, many of those with extremely short stature have genetic mutations, found an almost two-year-long study by the genetic clinic of Sir Ganga Ram Hospital in Delhi.

The diagnosis of such mutations could be made just by assessing the clinical profile of the patients, with the genetic testing required in the rest.

The study included 455 individuals between the ages of 10 months and 16 years who came to the hospitals genetic clinic between January 2017 and October 2018. All the individuals were in the lower third percentile for their height at age. The study was done to assess the spectrum of genetic disorders in persons with short stature.

Normal variation in adult height is largely due to inherited genetic factors. But, by contrast, at the extreme of short stature, patients often have mutations (changes) in a single gene, resulting in large effects on height.

Genetics plays an important part in determining an individuals height. Although there are many monogenic disorders (inherited diseases controlled by a fault in a single gene) that lead to perturbations in growth and result in short stature, this study asserts the importance of a good clinical examination to enable correct diagnosis. We wanted to reiterate that amongst the armamentarium of genetic tests available, a clinical profile assessment enables a diagnosis in 65 per cent of patients with proportionate short stature, said Dr Ratna Dua Puri, chairperson of the Institute of Medical Genetics and Genomics at Sir Ganga Ram Hospital.

Among the patient who could be diagnosed based on clinical presentation, 94.3 per cent had Downs Syndrome as per the study. Of those who needed to undergo genetic screening, 63 per cent had proportionate short stature meaning the upper and lower body were equally, abnormally short. Of these, 65 per cent of the individuals had recognisable genetic syndromes such as Turner Syndrome (one of the X chromosomes is partially missing), Williams Syndrome (developmental disorder affecting many parts of the body), and RASopathies (a group of rare conditions caused by mutations in genes that make proteins that control cell function, cell maturation, and cell death).

Of the 37 per cent who had disproportionate short stature (either upper or lower part of the body is short), 45 per cent had Lysosomal Storage Disorder (a group of metabolic diseases that lead to the build-up of various toxic materials in the organs) and 44 per cent had Skeletal Dysplasias (a group of condition that affects bone development, neurological function, and cartilage growth).

Through this study, we have attempted to represent the genetic spectrum of disorders in children with short stature and the appropriate testing indications. This becomes more relevant with the increasing ability of the tests and decreasing costs. Achieving a definitive diagnosis can help to guide prognosis, provide treatment and genetic counselling to the families, said Dr Puri.

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Many with extremely short stature have genetic mutations, shows Delhi's Gangaram Hospital study - The Indian Express

DEPARTMENT OF BIOLOGICAL SCIENCES

Postdoctoral researcher position in cell biology and genetics at the University of Cyprus

Title:Post-Doctoral ResearcherNo. of Positions:One (1)Category:One (1) year contract with possibility of extensionLocation:University of Cyprus, Nicosia

We are inviting applications for a postdoctoral researcher position to work with Yiorgos Apidianakis at the Infection and Cancer Laboratory in the Department of Biological Sciences at the University of Cyprus. The role will involve working on a Cyprus Research and Innovation Foundation (RIF) project.

Duties and Responsibilities

Work will involve research on live tissue cell imaging and fixed tissue immunohistochemistry and cell measurement analytics, as well as project management, manuscript preparation and dissemination of results.

Required Qualifications

Desirable skills

Location

Employment Terms

The position is for an initial 12 months, extendable up to 16 months, with a gross salary range of 2000 - 2666.67 per month. Employee contributions will be deducted from this above amount. The position does not include a 13th Salary bonus.

How to apply

Applications for these positions are due by September 15, 2022. Informal enquiries and applications, including a cover letter, CV and details of two referees, should be sent by email to:

Associate Professor Yiorgos Apidianakis,Infection and Cancer LaboratoryDepartment of Biological Sciences,|University of Cyprusapidiana@ucy.ac.cy

At least the best three candidates that satisfy the required qualifications, will be interviewed by a 3-member Committee.

Candidates shall be informed of the result of their application by the relevant entity.

The University of Cyprus shall collect and process your personal data according to the provisions of the General Regulation on Personal Data 2016/679 (EU).

The University of Cyprus (UCY) is committed to promoting inclusivity, diversity, and equality, as well as the elimination of all forms of discrimination in order to provide a fair, safe, and pleasant environment for the entire university community, where students and staff members will feel supported both in their professional and personal development, within and beyond their multiple identities. To this end, UCY seeks to create the necessary conditions that will encourage and respect diversity, and ensure dignity both in the workplace and society at large. Moreover, UCY has adopted specific policies to promote equal opportunities, as well as respect and understanding of diversity, while it is committed to promoting and maintaining a working, teaching, and learning environment, free from any form of discrimination, whether direct or indirect.

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Post-Doctoral Researcher, Cell biology and Genetics job with UNIVERSITY OF CYPRUS | 302227 - Times Higher Education

For a study, researchers sought to determine how copy number variants (CNV) risk scores, common genetic variation quantified by polygenic scores (PGSs), and environmental variables interact to influence cognition and psychopathology in a community population.

The Philadelphia Neurodevelopmental Cohort is a community-based research project that looks at genetics, psychopathology, neurocognition, and neuroimaging. Participants were recruited through the pediatric network at Childrens Hospital of Philadelphia. From November 5, 2009, through December 30, 2011, participants with stable health and English fluency received genotypic and phenotypic characterization. The data were examined from January 1 to July 30, 2021.

The researchers looked at copy number variants (CNVs) risk scores derived from the burden, anticipated intolerance, gene dosage sensitivity models, PGSs from genomewide association studies associated with developmental outcomes, and environmental variables such as trauma exposure and neighborhood socioeconomic status. The Penn Computerized Neurocognitive Battery was used to assess neurocognition; structured interviews based on the Schedule for Affective Disorders and Schizophrenia for School-Age Children were used to assess psychopathology, and magnetic resonance imaging was used to assess brain volume.

There were 9,498 juveniles aged 8 to 21 years in the study; 4,906 (51.7%) were female, and the mean (SD) age was 14.2 (3.7) years. After quality control, 7,101 unrelated subjects genotyped on Illumina arrays had 18,185 total CNVs bigger than 50 kilobases (10,517 deletions and 7,668 duplications). Elevated CNV risk scores were associated with lower overall accuracy on cognitive tests (standardized =0.12; 95% CI, 0.10-0.14; P=7.4110-26); lower accuracy across a variety of cognitive subdomains; increased overall psychopathology; increased psychosis-spectrum symptoms; and higher deviation from a normative developmental model of brain volume in these participants. When CNV risk ratings were integrated with PGSs and environmental variables, statistical models of developmental outcomes improved dramatically.

Elevated CNV risk scores were linked to worse cognitive ability, higher psychopathology, psychosis-spectrum symptoms, and more departures from normative magnetic resonance imaging models of brain development in this investigation. The findings offered an important step toward understanding clinically relevant outcomes in kids by combining uncommon genetic, common genetic, and environmental variables.

Reference: jamanetwork.com/journals/jamapsychiatry/fullarticle/2792406

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Relationship Between CNV Risk Scores and Common Genetic Variation Indexed by Polygenic Scores (PGSs) - Physician's Weekly

A Seoul National University Bundang Hospital (SNUBH) research team has discovered a new gene mutation related to the cause of autism for the first time worldwide through a large-scale genetics study of autistic patients and their families.

Autism is a developmental disorder characterized by repetitive behavior or narrowness of interest along with a lack of communication or social interaction, as shown in the popular drama "Extraordinary Attorney Woo." Typically, characteristic symptoms are revealed around the age of 2. Considering the brain develops quickly, early intervention is important.

Genes play a major role in the development of autism, but the specific genes and their role in early brain development have not been identified. Consequently, there are no treatments for autism symptoms, such as social deficits or communication disorders, but only medication to cure impulsivity or anxiety symptoms.

Professor Yoo Hee-jeong of the Neuropsychiatry Department at SNUBH conducted the joint study with Professors Lee Jeong-ho and Choi Jun-kyun of the Korea Advanced Institute of Science and Technology (KAIST), Institute of Basic Science Director Kim Eun-joon, and others to identify the genetic mutations that cause autism for the development of therapeutics.

The joint group focused on the brains non-coding region, a genomic region that accounts for more than 98 percent of the genomic data but was excluded from the study as it does not directly produce proteins. Researchers received blood from 813 people autism patients and their family members suitable for the study and analyzed the genome, produced human stem cells to reproduce prenatal neurons.

Results revealed that genetic mutations in the non-coding region affect brain development by remotely influencing distant genetic mutations through interactions in three-dimensional spaces in early stages of neurodevelopment.

This study changes the autistic research paradigm, which previously focused only on areas encoding existing proteins, and reveals new target genes to determine the root cause of autism. Professor Yoo said.

Yoo added that the team has identified the hidden secret of autism using data unique to Koreans' autism parties and families and are very grateful for the dedication of the participants in this study.

We will continue research to help improve the lives of autistic people and their families, Yoo said.

The study was published in the latest issue of the Molecular Psychiatry journal.

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Researchers find new genetic mutation causing autism through study of patients and families - KBR

Products derived from the cotton plant show up in many items that people use daily, including blue jeans, bedsheets, paper, candles, and peanut butter. In the United States, cotton is a $7 billion annual crop grown in 17 states from Virginia to Southern California. Today, however, its at risk.

Cotton plants from fields in India, China, and the U.S. the worlds top three producers grow, flower, and produce cotton fiber very similarly. Thats because they are genetically very similar.

This can be a good thing since breeders select the best-performing plants and cross-breed them to produce better cotton every generation. If one variety produces the best-quality fiber that sells for the best price, growers will plant that type exclusively. But after many years of this cycle, cultivated cotton all starts to look the same: high-yielding and easy for farmers to harvest using machines, but wildly underprepared to fight disease, drought, or insect-borne pathogens.

Breeding alone may not be enough to combat the low genetic diversity of the cultivated cotton genome, since breeding works with what exists, and what exists all looks the same. And genetic modification may not be a realistic option for creating cotton that is useful for farmers, because getting engineered crops approved is expensive and heavily regulated. My research focuses on possible solutions at the intersection of these tools.

In a perfect world, scientists could change just a few key components of the cotton genome to make plants more resilient to stresses such as pests, bacteria, fungi, and water limitations. And the plants would still produce high-quality cotton fiber.

Heres the background This strategy isnt new. Some 88 percent of the cotton grown in the U.S. has been genetically modified to resist caterpillar pests, which are expensive and hard to manage with traditional insecticides. But as new problems emerge, new solutions will be required that will demand more complex changes to the genome.

Recent advances in plant tissue culture and regeneration make it possible to develop a whole new plant from a few cells. Scientists can use good genes from other organisms to replace the defective ones in cotton, yielding cotton plants with all the resistance genes and all the agriculturally valuable genes.

The problem is that getting regulatory approval for a genetically modified crop to go to market is a long process, often 8 to 10 years. And its usually expensive.

Genetic modification isnt the only option. Researchers today have access to a gigantic amount of data about all living things. Scientists have sequenced the entire genomes of numerous organisms and have annotated many of these genomes to show where the genes and regulatory sequences are within them. Various sequence comparison tools allow scientists to line up one gene or genome against another and quickly determine where all the differences are.

Plants have very large genomes with lots of repetitive sequences, which makes them very challenging to unpack. However, a team of researchers changed the game for cotton genetics in 2020 by releasing five updated and annotated genomes two from cultivated species and three from wild species.

Having the wild genomes assembled makes it possible to start using their valuable genes to improve cultivated varieties of cotton by breeding them together and looking for those genes in the offspring. This approach combines traditional plant breeding with detailed insights into cottons genome.

We now know which genes we need to make cultivated cotton more resistant to disease and drought. And we also know where to avoid making changes to important agricultural genes.

Blue jeans never go out of style.Jena Ardell/Moment/Getty Images

These genomes also make it possible to develop new screening tools to characterize interspecific hybrids the offspring of two cotton plants from different species. Before this information was available, there were two primary forms of hybrid characterization. Both were based on single nucleotide polymorphisms, or SNPs differences between species in a single base pair, the individual building blocks that make up DNA. Even plants with small genomes have millions of base pairs.

SNPs work well if you know exactly where they are located in the genome, if there are no mutations that change the SNPs, and if there are plenty of them. While cotton has SNPs that have been identified and verified in specific regions of the genome, they are few and far between. So characterizing cotton hybrids by focusing exclusively on SNPs would result in incomplete information about those hybrids genetic composition.

These new genomes open the door for developing sequencing-based screening of hybrids, which is something Ive incorporated into my work. In this approach, scientists still use SNPs as a starting point, but they can also sequence the surrounding DNA. This helps to fill in gaps and sometimes discover new, previously undocumented SNPs.

Sequence-based screening helps scientists make more informed and robust maps of the genomes of hybrids. Determining which parts of the genome are from which parent can give breeders a better idea of which plants to cross together to subsequently create better, more productive cotton in every generation.

As the worlds population rises toward a projected 9.8 billion by 2050, demand for all agricultural products will also rise. But making cotton plants more productive is not the only goal of genetic improvement.

Climate change is raising average global temperatures, and some important cotton-producing regions like the U.S. Southwest are becoming drier. Cotton is already a crop accustomed to heat our research plots can thrive in temperatures as high as 102 degrees Fahrenheit (39 C) but one cotton plant requires about 10 gallons (38 liters) of water over the course of a four-month growing season to achieve its maximum yield potential.

Researchers have started to search for cultivated cotton that can tolerate drought at the seedling stage, and also in hybrid lines and genetically modified lines. Scientists are optimistic that they can develop plants that have higher drought resilience. Along with many other cotton breeders around the world, my goal is to create more sustainable and genetically diverse cotton so that this essential crop can thrive in a changing world.

This article was originally published on The Conversation by Serina Taluja at Texas A&M University. Read the original article here.

LEARN SOMETHING NEW EVERY DAY.

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Humans wear cotton every day now, the plant needs genetics' help to survive - Inverse

The video shows a discussion on genome-editing technique rather than an mRNA procedure. mRNA isnt even mentioned once in the entire video.

Context:

While the world continues to deal with the impact of COVID-19, misleading posts accompanying a 2.17 minutes-long video are doing the rounds over social media spreading misinformation about mRNA COVID-19 vaccines by linking them to a genome-editing technology. One such Facebook post is titled WEF video from 2015 discussing the ability of an mRNA medical procedure to permanently change the genetics of the subject and its offspring. Similar posts include a screengrab of the video and make references to COVID-19 vaccines. What do you think they were really doing with all these covid shots? further asked the post. Such posts aim to instill suspicion and fear in the viewers minds about the technology used in COVID-19 vaccines.

In fact:

The 2.17 minutes-long video being circulated on social media begins with the speaker stating, So this is a precision tool that now allows us to take this protein RNA complex and introduce it into cells or tissues.

It appears that the term RNA has been erroneously misinterpreted as mRNA. In addition, we found an extended version of the video,which is 5.25 minutes-long, on the World Economic Forums official YouTube channel, and the video does not mention mRNA even once.

In the video, University of California professor Jennifer Doudna discusses RNA therapies and DNA editing breakthroughs in 2015 at a World Economic Forum(WEF) event. The CRISPR-Cas9 co-discoverer Doudna describes how the technology can alter DNA and offers the possibility of curing human genetic disorders. Professor Doudna has won the 2020 Nobel Prize in Chemistry along with Professor Emmanuelle Charpentier for discovering the gene-editing technique (CRISPRCas9).In the video, she says that compared to what a word processor does for writing, the technique allows for modifying genomic code in living organisms. Doudna claims that they discovered Cas9, a protein that can be designed to split double-stranded DNA, repair breaks, and correct genetic mutations.

According to Medline Plus, CRISPR-Cas9 is an acronym for clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9. According to the National Human Genome Research Institute, the genome is the entire set of DNA instructions found in a cell. An individuals genome contains all the information needed for growth and function.

National Cancer Institute defines an mRNA as a particular form of RNA. mRNA molecules transfer the data from the DNA in the cells nucleus to the cytoplasm, where proteins are made. However, the CRISPR-Cas9 system involves guide RNA (gRNA). Furthermore, mRNA is not even mentioned in the original paper published on the subject in Science in 2012.

Medline Plus notes that ethical concerns are often raised when human genomes are edited using tools like CRISPR-Cas9. This DNA editing technology is being investigated for several diseases, including single-gene disorders, in research and clinical trials. Contrary to claims on social media, only particular tissues are affected by the modifications, which are not transferred from generation to generation unless the gene alterations are in the egg, sperm, or embryonic cells. Only in such cases, may the changes be passed on to succeeding generations.

Thus, it is evident that there is no relation between COVID-19 vaccines and genome editing technology as these two technologies are entirely different. Conspiracy theorists have constantly claimed that COVID-19 vaccines were meant to alter human DNA among other bogus claims. These false claims have been repeatedly debunked by Logically and other independent fact-checkers in the past.

The verdict:

The video is about DNA editing techniques and not an mRNA procedure. Some fallacious social media posts linking this technology to COVID-19 vaccines merely show a small portion of the entire video. The authorized mRNA COVID-19 vaccines do not use the gene editing method being explained in the video. Thus, we mark this claim misleading.

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Fact Check: A video from 2015 discusses the ability of an mRNA medical procedure to change the genetics of - The Paradise News

The Biobank provides DNA specimens for personalized medicine treatments and research. Photo: Getty Images.

A fundamental financial concept is that banks should be well capitalized with diversified investment portfolios. These two elements are the foundation of their economic strength.

In genetics, a different kind of bank must adhere to a similar set of principles in its own unique way.

On the Anschutz Medical Campus, thats the Biobank, which is part of the Colorado Center for Personalized Medicine. The Biobank is a repository of DNA specimens from UCHealth and Childrens Hospital Colorado patients. Researchers use the samples for research, genetic analysis and clinical care. The bank is one key element in efforts to advance personalized or precision medicine that aims to tailor medical care to the specific genetic makeup of patients.

But as with the banks with teller windows and ATMs, the Biobank and other biorepositories like it need deposits and the more the better, says Dr. David Kao, medical director of the Colorado Center for Personalized Medicine. The deeper the biorepository, the greater the evidence on which to learn from and draw reliable conclusions about, for example, specific genetic mutations and the health conditions linked to them.

The fewer the people, the more generic the treatments, Kao said. The more people, the more targeted or personalized are the treatments.

In addition, Kao said, biobanks grow stronger as they diversify genetically. A repository that accurately reflects a communitys makeup is well positioned to assist clinicians and researchers in serving that community. Call it a well-diversified genetic portfolio.

For these reasons, Kao and his colleagues are working to reach out to UCHealth patients and the wider Colorado community to encourage people to participate in the Biobank. In an interview with UCHealth Today, Kao explained what the Biobank is, how it operates, and how it benefits both patients and providers. He also addressed questions about how the Biobank protects patient privacy.

The Biobank is essentially a large research study that aims to collect DNA specimens from a set of UCHealth and Childrens Hospital Colorado patients who voluntarily agree to participate.

The fundamental goal is to understand how genetics fits into everyday health, Kao said. We can learn how patients genes are associated with different facets of health, whether that is risk of developing certain conditions, or responses to treatment, or ways to prevent disease, Kao said.

To do that, biobanks strive to increase the number of specimens in the repository. Doing so enriches the genetic diversity of the specimens. That, in turn, helps researchers and clinicians learn more about the unique characteristics of patients in different racial and ethnic groups, for example.

A surprising amount of what we know about genes and diseases has come from a relatively narrow population of people white males, Kao explained. That is not the world, so we have discovered that the diversity that exists is important to study in order to know if the recommendations we are making are appropriate in different populations.

There are several reasons that it makes sense to have a local biobank, Kao said.

The first is that having a unique, local biobank helps with the practical goal of incorporating genetics into health care. The Biobank at the Colorado Center for Personalized Medicine contains samples and genetic information derived from UCHealth patients. That can enrich the knowledge their providers use to treat them.

We are able to assess how genetics are important to treating our patients here, Kao said. We can tell providers what the best things to do are, with confidence that it applies to the person in front of them.

For example, Kao said, Hispanics make up about 15% of UCHealths patient population. Genetic information from a biobank of patients from, say, the United Kingdom, with a much smaller Hispanic population, would not make an ideal match.

You know youre going to miss something, he said.

In addition, the Biobank specimen data links to a deep reservoir of clinical data stored in the Epic electronic health record (EHR), a capability many other institutions lack, Kao said.

Finally, the Biobank is set up to return certain clinical results from DNA specimens to patients. To our knowledge, we are the only biobank that does that, Kao said. Genetic research benefits everyone, but here you can get an individual benefit.

There are three main ways that the Biobank can help individual patients, Kao said.

First, there are a set of about 75 genes with significant health implications, most notably breast and other cancers and heart failure caused by organ deterioration that begins at a young age.

These are conditions that the genetics community has said, If you see this, you really need to tell the person, Kao said.

About 60 UCHealth patients with these genes have been identified, with about half so far contacted directly to notify them and help them make further decisions, he said.

Second, data about genes that affect how certain medications work or dont work go directly into a patients medical record in the EHR. If a provider tries to prescribe one of these medications, a message pops up with a warning about the patients genetic risk.

One example, Kao said, is statins, a frequently prescribed class of medications that protect against heart disease. In patients with a specific genetic abnormality, the drugs can cause muscle aches and soreness. Without understanding the genetic cause, the patient might stop taking the drug and increase their risk of heart problems. On the other hand, if the provider knows a specific drug has those side effects, theyll simply choose a different one.

We can make sure the person gets the medication they need without being misled by side effects, Kao said. He added that as of recently, the Biobank provides genetically driven advice for all statins because they are so commonly prescribed.

Third, genetic data has been used to flag other conditions, such as risk of hemochromatosis, or iron overload. The condition generally doesnt produce symptoms early, but over time, it can cause deposits of the mineral in the liver, heart and joints. A specific gene is usually present in people who have hemochromatosis, Kao said, although not everyone who has the gene will develop problems. But with knowledge of the gene, again embedded in the EHR, providers can advise patients to get screened early and, if necessary, get treatments, which are effective.

Without the genetic information, most patients wouldnt think to check about iron levels at an early age, Kao said.

Specimens are protected through the same protocols used to store other research specimens across the University of Colorado Anschutz Medical Campus, Kao said. They are placed in tubes with no patient identifying information and stored in deep freezers behind multiple locked doors, with access limited to very specific personnel, he added.

The data lives in a highly secured, cloud storage environment that is more secure than the electronic health record, Kao said. The specific genetic data is stored without patient identifying information attached to it.

It is true that for people with the specific genes discussed earlier (and others), the Biobank has a matching process used to regenerate the connection between them and their samples, Kao said. So we do have a path to trace genetic data back to an individual, because that is how we are able to put specific results back into the medical record. However, he added, that path involves several steps that are each secure in their own right. A hacker would have to breach all the systems involved and then know the protocols to rematch genetic data to an individual, and there are a number of safeguards to protect that from happening, Kao said.

Some researchers on campus use the results of the Biobanks analysis of DNA specimens, Kao said. Others may use samples for further testing in pursuit of their own research. But they have no access to patient-identifying information, he added.

Yes, some do. But, there is always rigorous protection of patient privacy, Kao said.

We collaborate with a number of national and international consortia of biobanks for research and innovation, he said. One purpose is to study conditions that might be seen infrequently in a place like Colorado or another state, region or country. With a much larger pool of biobank data, we can make some conclusions about relatively rare conditions, Kao said.

Dr. Chris Gignoux, director of research for the Colorado Center for Personalized Medicine, said the Biobank is part of consortia that include the Covid-19 Human Genetics Initiative, the Global Biobank Meta-analysis Initiative, and the Biobank Rare Variant Analysis consortium. Gignoux added that the Biobank works frequently with UCLA (ATLAS) and Mount Sinai (BioMe), and is now collaborating with those two biorepositories on three major grants. The Biobank also shares data with the Million Veteran Program and Vanderbilt University (BioVU), among others, he said.

The simplest way is to sign in to your My Health Connection account (or create one). Click the UCHealth Research Opportunities button on the main page to read more about the Biobank and view the consent form. After reading the form, you can sign it, decline to or elect to decide at a later time.

At your next clinic or hospital visit that requires a blood draw, a provider will draw at least one extra tube of blood. Kao said the Biobank has started more recently to use saliva-based collection, and mailed out 250 kits in early June. We may be ramping that up, he said.

Its important to be part of the research because the more different people that we have, both in terms of genes and their entire life course, the better we can understand how to customize, select and choose with each person how they want to treat disease or manage their health over time, Kao said.

Kao added that as medical director of the Biobank, he wants genetic medicine to become an accepted part of all medicine. I want more patients and providers to be aware of it and expect it, just like getting your blood sugar checked, he said. Part of that is empowering patients to learn about and figure out how to use the Biobank, how it matters to them and how they want to engage with it.

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Biobanking makes genetics a fundamental part of health care - UCHealth Today

We have long been baffled as to why men live around five years less than women, on average. But now a new study suggests that, beyond the age of 60, the main culprit is a genetic defect: the loss of the Y chromosome, which determines sex at birth.

Its clear that men are more fragile, the question is why, explains Lars Forsberg, a researcher at Uppsala University in Sweden.

For decades it was thought that the male Y chromosomes only function was to generate sperm that determine the sex of a newborn. A boy carries one X chromosome from the mother and one Y from the father, while a girl carries two Xs, one from each parent.

In 1963, a team of scientists discovered that as men age, their blood cells lose the Y chromosome due to a copying error that happens when the mother cell divides to produce a daughter cell. In 2014, Forsberg analyzed the life expectancy of older men based on whether their blood cells had lost the Y chromosome, a mutation called mLOY. The effect recorded was mindblowing, the researcher recalls.

Men with fewer Y chromosomes had a higher risk of cancer and lived five and a half years less than those who retained this part of the genome. Three years later, Forsberg discovered that this mutation makes getting Alzheimers three times as likely. What is most worrying is the enormous prevalence of this defect. Twenty percent of men over the age of 60 have the mutation. The rate rises to 40% in those over 70 and 57% in those over 90, according to Forsbergs previous studies. It is undoubtedly the most common mutation in humans, he says.

Until now, nobody knew whether the gradual disappearance of the Y chromosome in the blood played a pivotal role in diseases associated with aging. In a study just published in the journal Science, Forsberg and scientists from Japan and the US demonstrate for the first time that this mutation increases the risk of heart problems, immune system failure and premature death.

The researchers have created the first animal model without a Y chromosome in their blood stem cells: namely, mice modified with the gene-editing tool CRISPR. The study showed that these rodents develop scarring of the heart in the form of fibrosis, one of the most common cardiovascular ailments in humans, and die earlier than normal mice. The authors then analyzed the life expectancy recorded in nearly 15,700 patients with cardiovascular disease whose data are stored in the UK public biobank. The analysis shows that loss of the Y chromosome in the blood is associated with a 30% increased risk of dying from cardiovascular disease.

This genetic factor can explain more than 75% of the difference in life expectancy between men and women over the age of 60, explains biochemist Kenneth Walsh, a researcher at the University of Virginia in the US and co-author of the study. In other words, this mutation would explain four of the five years lower life expectancy in men. Walshs estimate links to a previous study in which men with a high mLOY load live about four years less than those without it.

It is well known that men die earlier than women because they smoke and drink more and are more prone to recklessness. But, beyond the age of 60, genetics becomes the main culprit in the deterioration of their health: It seems as if men age earlier than women, Walsh points out.

The study reveals the molecular keys to the damage associated with the mLOY mutation. Within the large group of blood cells can be found the immune systems white blood cells responsible for defending the body against viruses and other pathogens. The loss of the Y chromosome triggers aberrant behavior in macrophages, a type of white blood cell, causing them to scar heart tissue, which in turn increases the risk of heart failure. Researchers have shown that the damage can be reversed if they give mice pirfenidone, a drug approved to treat humans with idiopathic pulmonary fibrosis, a condition in which the lungs become scarred and breathing becomes increasingly difficult.

There are three factors that increase the risk of Y chromosome loss. The first is the inevitable ageing process. The longer one lives, the more cell divisions occur in the body and the greater the likelihood of mutations occurring in the genome copying process. The second is smoking. Smoking causes you to lose the Y chromosome in your blood at an accelerated rate; if you stop smoking, healthy cells once again become the majority, says Walsh. But the third is also inevitable: other inherited genetic mutations can increase the gradual loss of the Y chromosome in the blood by a factor of five, explains Forsberg.

Both Forsberg and Walsh believe that this study opens up an enormous field of research. Still to be studied is whether men with this mutation also have cardiac fibrosis and whether this is behind their heart attacks and other cardiac ailments. We also need to better understand why losing the Y chromosome damages health. For now, we have shown that the Y chromosome is not just there for reproduction, but is is also important for our health, says Forsberg. The next step is to identify which genes are responsible for the phenomenon.

The loss of this chromosome has been detected in all organs and tissues of the body and at all ages, although it is more evident after 60. It is abundant in the blood because this is a tissue that produces millions of new cells every day from blood stem cells. Healthy stem cells produce healthy daughter cells and mutated ones produce daughter cells with mLOY.

A previous study showed that this mutation of the Y chromosome disrupts the function of up to 500 genes located elsewhere in the genome. It has also been shown to damage lymphocytes and natural killer cells, evident in men with prostate cancer and Alzheimers disease, respectively.

There are hardly any tests for mLOY at present. But Forsberg and his colleagues have designed a PCR test that measures the level of this mutation in the blood and could serve to determine which levels of this mutation are harmful to health. Right now, we see people in their 80s with 80% of their blood cells mutated, but we dont know what impact this has on their health, says Walsh.

Another unanswered question is why men lose the genetic mark of the male with age. The evolutionary logic, argue the authors of the paper, is that men are biologically designed to have offspring as soon as possible and to live 40 to 50 years at most. The spectacular increase in life expectancy in the last century has meant that men and women live to an advanced age 80 and 86 years in Spain, respectively which makes the effect of these mutations more evident. Another fact which possibly has some bearing on the issue: the vast majority of people who reach 100 are women.

To transform all these discoveries into treatments, we first need to better understand this phenomenon, says Forsberg. We men are not designed to live forever, but perhaps we can increase our life expectancy by a few more years.

Biochemist Jos Javier Fuster, who studies pathological mutations in blood cells at the National Center for Cardiovascular Research, stresses the importance of the work. Until now it was not clear whether the loss of Y was the cause of cancer, Alzheimers disease and heart failure, he explains. This is the first demonstration in animals that it has a causal role. The human Y chromosome is different from the mouse chromosome, so the priority now is to accumulate more data in humans. This is a great first step in understanding this new mechanism behind aging-linked diseases, he adds.

The cells of the human body group their DNA into 23 pairs of chromosomes that pair up one by one when a cell copies its genome to generate a daughter cell. The Y is the only one that does not have a symmetrical partner to pair up with: instead, it does so with an X chromosome; and the entire Y chromosome is often lost, explains Luis Alberto Prez Jurado from Pompeu Fabra University in Barcelona. For now, six genes have been identified within the Y chromosome that would be responsible for an impact on health, he says. All of them are related to the proper functioning of the immune system. In part, this would also explain the greater vulnerability of males to viral infections, including Covid-19.

Originally posted here:
mLOY: The genetic defect that explains why men have shorter lives than women - EL PAS USA