Category Archives: Genetics

Genetics

Genetics of the future: How Tyumen State University scientists solve biosafety issues – TASS

The Institute of Environmental and Agricultural Biology (X-BIO) at Tyumen State University is one of the research centers in Russia dealing with biosafety issues. This year, it will celebrate its fourth birthday. The decision to create the center was made by the university's scientific council on November 27, 2017. In this short time, X-BIO has managed to make itself known not only nationally, but internationally as well, becoming one of the university's flagships in scientific research.

Employees at the Institute participate in projects at the West Siberian Interregional Scientific and Educational Center, the Kuchak Lake Carbon Range Project, and create their own laboratories. Andrei Tolstikov, Senior Vice-Rector of Tyumen State University, told TASS about alternatives to antibiotics scientists are looking for, how biologists participate in the digitalization of agriculture and why we need to engage in bioethics.

X-BIO Institutes field of work

According to Tolstikov, the new institute was shaped by the events happening in the world. The global SARS-CoV-2 pandemic more commonly known as the new coronavirus, which broke out in 2020, numerous outbreaks of highly pathogenic avian influenza viruses, African swine fever and other dangerous diseases around the world, as well as yield losses of some crops due to diseases and pesticide resistant pests. All this has determined the vector of the new institute's development, Tolstikov said.

X-BIO is taking an active part in creating a world-class center for biosafety within the framework of the West Siberian Interregional Scientific and Educational Center and is implementing a number of projects within the framework of the Scientific and Educational Center for Human, Animal and Plant Biosafety.

As the senior vice-rector notes, the year 2020 was a significant one in the history of the institute, winning the project of the federal scientific and technical program for the development of genetic technologies under the leadership of West Siberian Interregional Scientific and Educational Centeracademician Andrei Lisitsa on the topic of microbiomes of agrocenoses. "Under the banner of the new project, six research teams from the X-BIO Institute got involved in solving problems to create an entirely new type of land management that can restore soil quality," Tolstikov said. Amongst their numerous projects, scientists are also working on Russia's first carbon test site at the university's biostation on Lake Kuchak.

Modern research in the hands of young people

By early next year, the Institute is expected to have new laboratories led by young researchers. In December, the ecological genetics and metagenomics laboratory, which was created on the money of the genetic technologiesgrant, will become operational and will be headed by Evgeny Simonov. Early next year, insect systematics and phylogenetics laboratory, headed by Maria Salnitskaya, will be launched. The laboratory, created as part of the Research Center, which deals with resource-efficient biomass processing technologies, is already beginning its work, headed by Ivan Shanenkov, an Alferov scholar.

"In addition, the X-BIO Institute will be the universitys central research uniting several "Priority 2030" Strategic Academic Leadership Program projects, which has received federal funding. These projects will address even larger tasks, expand the scientific agenda, and create long-term alliances with Russian and foreign partner organizations," Tolstikov says.

Why the work of the Institute is so important

The relevance of ensuring biological safety will only increase, according to Tyumen Universitys senior vice-rector. "Pathogens and pests are becoming more resistant to chemical agents. The so-called superbacteria are even found in Greenland and Antarctica, in the Amazon jungle. They are resistant to most antibiotics used in medicine and veterinary medicine. Finding new effective antibiotics in nature or synthesizing them is becoming increasingly difficult, and addiction to them is developing more and more rapidly," Tolstikov notes.

Traditional chemical agents are being replaced by biological methods of plant and animal protection. The Institutes antimicrobial resistance laboratory headed by Alexei Vasilchenko along with several groups of entomologists and acarologists is actively engaged in this work. The scientists are looking for new species of predatory insects and mites that can effectively regulate the number of pests of cultivated plants.

The role of biologists in the digitalization of agriculture

As Andrey Tolstikov notes, digitalization in agriculture is gaining momentum. The technical means to make this transition already exist, but they need to be adapted to specific agricultural enterprises. Specialists need to develop software and create specific package cases.

X-BIO is not on the sidelines. A search youth laboratory called AgroBioIT was created under the leadership of Aidar Fakhrutdinov. Its projects involve graduate and undergraduate students of various technical specialties. For example, they recently created a new product, a simulator for drone operators, which has already found customers and commercial prospects, said the senior vice-rector.

At the intersection of ethics and genetics

"The development of the latest technologies in the field of genetics must go together with the assessment of the ethical aspects of modifying biological and natural objects. Accordingly, there is an increased need for those specialists who can professionally evaluate these or other initiatives to introduce bioethics into training programs," Tolstikov believes.

According to him, the Institute is discussing plans to train personnel in bioethics.

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Genetics of the future: How Tyumen State University scientists solve biosafety issues - TASS

Genetics

Opinion | What I Learned Testing My Dogs DNA – The New York Times

Curiosity is a great motivator, but my curiosity about Rascals breed mix would have come to nothing had I not submitted to a DNA test myself shortly before we adopted him. I wasnt looking for my own genetic ancestry; Im wary of what such tests reveal and warier still of how their results might be used. Commercial DNA testing has revealed family secrets, solved crimes long consigned to the cold-case files, even affected census results.

From human genetics research particularly studies involving identical twins we know that DNA influences much of what we consider to be our most human traits: our personality, our preferences, our I.Q. Lay people, even many researchers themselves, tend to find such research troubling, hinting at a kind of genetic determination.

Despite the unresolved ethical and cultural issues raised by DNA testing, its potential medical benefits are remarkable. I have a rare inherited syndrome that almost certainly killed my paternal grandmother at 51 and accounted for my fathers cancer diagnosis in middle age. When I submitted a saliva sample to a medical lab for genetic testing, I was contributing to research that might identify the gene that causes the condition, saving future patients from the expensive and disruptive cancer screenings that I undergo every year.

All of which primed me to reconsider DNA testing when we adopted Rascal; canine DNA tests can also reveal certain inherited medical conditions. In January, our rescue dog Millie died of complications of epilepsy. If Rascal carries a genetic risk for something terrible but treatable, too, I wanted to know about it.

Following a recommendation from Wirecutter, which evaluated 17 DNA tests on the commercial market, I ordered one from Embark and sent in a sample of Rascals saliva. A couple of weeks later, I got his results: 35.9 percent Chihuahua, 34.4 percent poodle, 6.9 percent bichon fris and 22.8 percent supermutt, Embarks catchall term for trace amounts of DNA from distant ancestors. Rascals ancestors apparently include a collie, a Pekingese, a Shih Tzu and a Maltese terrier.

The test also revealed that Rascal carries two copies of a gene variant associated with disk disease. Even before the breed results arrived, I got an email from one of Embarks veterinary geneticists explaining the risks associated with this variant and recommending some mitigation strategies. Some of them, like using a harness on walks, were easy to do. Others, like discouraging jumping, were less so. Keeping this buoyant little dog earthbound is a fools errand, but I was extremely grateful for the detailed advice.

Breed mix remains a matter of indifference to me. What does it mean that my gentle granddog has a wolf somewhere deep within her lineage? Apparently nothing. Thats the mystery of individuality, even in dogs.

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Opinion | What I Learned Testing My Dogs DNA - The New York Times

Genetics

Why Some People Find It Harder to Be Happy, According to Science – ScienceAlert

The self-help industry is booming, fueled by research on positive psychology the scientific study of what makes people flourish.

At the same time, the rates of anxiety, depression and self-harm continue to soar worldwide. So are we doomed to be unhappy, despite these advances in psychology?

According to an influential article published in Review of General Psychology in 2005, 50 percent of people's happiness is determined by their genes, 10 percent depends on their circumstances and 40 percent on "intentional activity" (mainly, whether you're positive or not).

This so-called happiness pie put positive-psychology acolytes in the driving seat, allowing them to decide on their happiness trajectory. (Although, the unspoken message is that if you are unhappy, it's your own fault.)

The happiness pie was widely critiqued because it was based on assumptions about genetics that have become discredited. For decades, behavioral genetics researchers carried out studies with twins and established that between 40 percent and 50 percent of the variance in their happiness was explained by genetics, which is why the percentage appeared in the happiness pie.

Behavioral geneticists use a statistical technique to estimate the genetic and environmental components based on people's familial relatedness, hence the use of twins in their studies.

But these figures assumed that both identical and fraternal twins experience the same environment when growing up together an assumption that doesn't really hold water.

In response to the criticism about the 2005 paper, the same authors wrote a paper in 2019 that introduced a more nuanced approach on the effect of genes on happiness, which recognized the interactions between our genetics and our environment.

Nature and nurture are not independent of each other. On the contrary, molecular genetics, the study of the structure and function of genes at the molecular level, shows that they constantly influence one another.

Genes influence the behavior that helps people choose their environment. For example, extroversion passed from parents to children helps children build their friendship groups.

Equally, the environment changes gene expression. For example, when expecting mothers were exposed to famine, their babies' genes changed accordingly, resulting in chemical changes that suppressed production of a growth factor. This resulted in babies being born smaller than usual and with conditions such as cardiovascular disease.

Nature and nurture are interdependent and affect each other constantly. This is why two people brought up in the same environment may respond to it differently, meaning that behavioral genetics' assumption of an equal environment is no longer valid.

Also, whether or not people can become happier depends on their "environmental sensitivity" their capacity to change.

Some people are susceptible to their environment and so can significantly change their thoughts, feelings and behavior in response to both negative and positive events.

So when attending a wellbeing workshop or reading a positive psychology book, they may become influenced by it and experience significantly more change compared to others and the change may last longer, too.

But there is no positive psychology intervention that will work for all people because we are as unique as our DNA and, as such, have a different capacity for wellbeing and its fluctuations throughout life.

Are we destined to be unhappy? Some people might struggle a little harder to enhance their wellbeing than others, and that struggle may mean that they will continue to be unhappy for longer periods. And in extreme cases, they may never experience high levels of happiness.

Others, however, who have more genetic plasticity, meaning they are more sensitive to the environment and hence have an increased capacity for change, may be able to enhance their wellbeing and perhaps even thrive if they adopt a healthy lifestyle and choose to live and work in an environment that enhances their happiness and ability to grow.

But genetics does not determine who we are, even if it does play a significant role in our wellbeing. What also matters are the choices we make about where we live, who we live with and how we live our lives, which affect both our happiness and the happiness of the next generations.

Jolanta Burke, Senior Lecturer, Centre for Positive Psychology and Health, RCSI University of Medicine and Health Sciences.

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

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Why Some People Find It Harder to Be Happy, According to Science - ScienceAlert

Genetics

Greater risk to COVID-19 associated with genetics, systemic factors – UW Badger Herald

The amount of data accumulated since the start of the pandemic in March 2020 continues to grow along with COVID-19 deaths and vaccination rates. Data in regards to COVID-19 can be about numerous consequences of the virus including infection rates, death rates and hospitalization numbers, all of which can vary by state, county or even race. While it is important to use this information to understand how different communities and regions are impacted by the pandemic, experts emphasize taking into account the systemic factors that affect various populations.

An article from The Guardian talks about a gene scientists have identified which may be a factor in increased risk of COVID-19 death among certain populations. The gene, called LZTFL1, was found to drastically increase chances of respiratory failure and ultimately death when an individual is exposed to the coronavirus.

The gene was primarily linked to people of south Asian descent up to a staggering 60% of the population a reason why this population has seen higher death rates from the virus, according to The Guardian.

UPDATED: FDA authorizes booster shots for Moderna, Johnson & Johnson and mixing vaccinesAllowing the opportunity to strengthen the immunization of those vaccinated for COVID-19 over six months, the Food and Drug Administration Read

Though, there are numerous factors that play into why an individual dies from COVID-19, and not everyone agrees that it is necessarily fair to assign genetics as the sole cause of COVID-19 complications and related deaths.

Ajay Sethi is a population health sciences professor and researcher in the broad field of infectious diseases at the University of Wisconsin. He said the learning about all factors that contribute to different COVID-19 responses in people is crucial.

Understanding the genetics of infectious diseases can lead to new therapeutics and tools to screen people, something the authors mention in their original research, Sethi said. It would be important to have a better understanding of who is at higher risk for infection or severe illness and who may be protected from these things.

An article from the CDC talks about potential reasons other than genetics that increase risk for COVID-19 deaths specifically in racial minority groups. Lack of access to proper healthcare, living below the poverty line and working in professions deemed essential in the height of the pandemic are all factors that contribute to higher COVID-19 cases and death rates, according to the CDC.

UWs Science Writer in Residence cautions journalists about obligations during pandemicThe spread of misinformation is nothing new in the world of science. But as the pandemic persists along with the Read

We can work on alleviating the systemic factors that lead to greater risk of SARS-CoV-2 infection, COVID-19 illness, and death and we should also gain a better understanding of the complex biology of this disease to help society better manage the pandemic in the future Sethi said.

While genetic factors are important to learn about to gain a deeper understanding of potential treatments and preventions, addressing systemic pitfalls is equally important in the fight against the pandemic.

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Greater risk to COVID-19 associated with genetics, systemic factors - UW Badger Herald

Genetics

When it comes to pit bulls, you cant ignore genetics: Carol Miller – cleveland.com

Guest columnist Carol Miller is an animal lover and proponent of responsible pet ownership.

I just read your sweet story about the adopted pit bull. You asked for stories from readers about their own animals. Here is mine.

I have a Paint Horse named Blue. His looks and talent should have taken him to a career in the show pen, but his show prospects ended with a pit bull attack in the Cleveland Metroparks in 2007. Blue was mauled during an attack that lasted for 20 minutes and covered a mile. Hundreds of horrified park patrons witnessed the attack.

Blue lived, but he is no longer sound; he is a 1,000-pound pet. I required major surgery to control the pain caused by the injuries I suffered during the attack

When you write the soft stories on rescued pit bulls, you ignore genetics. Dogs are purpose-bred.

Border collies herd instinctively. Training can sharpen those skills, but they are bred into the dog.

Pointer pups will point at a feather on a string held by the proud owner of a litter. Training sharpens the skills, but nobody has to get down on their hands and knees to hold the little puppys legs in position until they get the idea. The skill is bred into the dog.

Bloodhounds track because they are bred to do so. Livestock guardian breeds do that job without fuss.

Pit bulls were bred for an activity so violent that it is a felony in all 50 states. The criteria for inclusion into the breed/type gene pool was the drive and ability to attack unprovoked and to continue that behavior until death occurs. Pit bulls are blood sport dogs. DNA is real.

American shelters are drowning in pit bulls. Most shelters harbor as high as 90 percent pit bulls. Look at the dogs available at the City of Cleveland shelter. Last time I did this, I found roughly 90 pit bulls and three or four other dogs.

There is no demand for those pit bulls, and many of them are warehoused for months to years waiting for placement. Is this humane?

I have a number that I consider significant. That number is how many Americans have been killed by pit bulls since the date of my own attack in 2007. Sadly, that number changes regularly.

The number stands at 364 as of Nov. 4. That is 364 Americans killed in 14 years.

A great deal of research has been done on pit bull-attack fatalities, and that research goes back to the first documented pit bull fatality in the United States back in 1833. From that first fatality, it took pit bulls 174 years to kill 291 Americans (up to the date of my attack). And in the 14 years since, pit bulls have killed an additional 364 Americans.

What happened in 2007 to kick off this bloodbath? The Michael Vick case brought pit bulls into the public eye, and those looking for profit seized the opportunity. The rest is history.

The date of my attack is my personal choice, but pick any date you like. The numbers dont change much.

Please give the downside as well as the upside when you share stories about pit bulls. The safety of the peaceful public should be considered. Humane treatment of the dogs should be considered.

Neuter and spay would be the best thing ever for pit bulls and would have been appropriate for inclusion into your article. Dogs that are not conceived do not suffer.

Readers are invited to submit Opinion page essays on topics of regional or general interest. Send your 500-word essay for consideration to Ann Norman at anorman@cleveland.com. Essays must include a brief bio and headshot of the writer. Essays rebutting todays topics are also welcome.

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When it comes to pit bulls, you cant ignore genetics: Carol Miller - cleveland.com

Genetics

Are Genetics Raising Your Risk of Inherited Cancer? – McLeod Health

McLEOD REGIONAL MEDICAL CENTER 10 NOVEMBER 2021

Christel Hayes, FNP-CMcLeod Oncology and Hematology Associates

The body is made up of trillions of cells, which contain genes. Genes are the basic physical unit of inheritance that is passed from parents to offspring. These small segments of DNA determine specific human characteristics, such as hair color, blood type, height, and risk for developing certain diseases. An individual can have changes or mutations in the genes that provide the wrong set of instructions, leading to faulty function, or abnormal cell growth.

However, since we have two copies of every gene, typically the other copy is still functioning normally. A person can be born with gene mutations, or they can happen over a lifetime. Mutations can occur when cells are aging or after exposure to certain chemicals or radiation. Fortunately, cells usually recognize these types of mutations and repair them. Other times, however, they can cause disease, such as cancer.

All cancers have one common element. They result from harmful changes in your genes. These gene changes can be caused by lifestyle habits or exposure to environmental cancer-causing agents, such as harmful chemicals. But some mutations are changes that have been passed down from generation to generation. We refer to these as inherited mutations.

A person with a hereditary cancer risk has genes that make them more susceptible to cancer than someone in the general population. The medical management for a person in the general population would be different than a person, who is at high risk. These individuals need greater surveillance, have family considerations that should be discussed, and possibly, have surgeries or medications to help decrease their cancer risk.

A risk factor is anything that increases the chances of developing a disease. Some of the factors associated with an increased cancer risk include lifestyle, age, family history, gender, and inherited gene changes. In my role with the McLeod Cancer Center, I work in collaboration with clinicians to provide screening, education, and testing to identify inherited gene mutations known to increase the risk of cancer.

Inherited mutations in certain genes increase the risk of cancer. Predictive genetic testing can be performed to look for inherited gene mutations. Genetic counseling and testing may be recommended for individuals with a personal or family history of certain cancers, due to the increased risk of having an inherited gene mutation.

You should consider genetic testing for hereditary cancer if:

Genetic testing involves a sample of saliva or blood that is sent to a genetics lab for analysis. The lab results are then compared with the patients DNA to determine whether they have any of the cancer-causing genes. More than 90 percent of the insurance companies currently cover hereditary cancer panel testing.

At McLeod Oncology and Hematology Associates, we offer pre-test counseling about genetics, obtain a collection of your family history and determine if you are suitable for genetic testing. For more information, please call (843) 777-5951.

Christel Hayes, FNP-C, cares for the genetic needs of patients at the McLeod Center for Cancer Treatment and Research. Hayes recently moved to South Carolina from Indiana where she was the Breast Surgical Oncology Nurse Practitioner for Lutheran Surgical Specialists. She completed an Associate of Applied Science in Nursing at Purdue University and obtained her Bachelor of Science and Master of Science in Nursing from Indiana Wesleyan University.

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Are Genetics Raising Your Risk of Inherited Cancer? - McLeod Health

Genetics

Is every gene associated with cancer? – Medical News Today

Cancer is, far and away, the most widely researched biological or biomedical topic, and for a good reason. In the United Kingdom, cancer will affect 1 out of every 2 people at some time in their lives.

However, a new analysis of the PubMed library of biomedical research literature finds that the search for connections between genes and cancer has created an overabundance of reported associations, making new research even more difficult.

At this point, almost all human genes have a connection with cancer in one way or another.

According to the article, which appears in Trends In Genetics, the PubMed library holds at least one paper on 17,371 human genes. Of these, 87.7% mention cancer in at least one publication.

Of the 4,186 genes that are the subjects of 100 or more PubMed articles, only three genes have no associations with cancer.

The author of the new paper, Dr. Joo Pedro de Magalhes of the University of Liverpool in the U.K., writes, An incredible 24.4% of all publications associated with genes in PubMed mention cancer.

Dr. de Magalhes suspects this wealth of associations has to do with how relatively easy it is to perform cancer research from a genetic perspective:

Compared with other common diseases, such as heart or neurodegenerative diseases, cancer is also seemingly more straightforward to study, given the wide availability of materials, such as cell lines.

In other words, the experimental methods necessary to study cancer seem to have lower technical limitations compared with many other disease scenarios.

The many connections cited in research imply that nearly all genes are involved in cancer, which is improbable, asserts Dr. de Magalhes.

Associations are not necessarily evidence of actual causal relationships, so much of this research may amount to unhelpful statistical noise that makes productive analysis more difficult.

The analysis cites several ways in which the glut of reported associations inhibit worthwhile research:

Dr. de Magalhes writes that researchers should be mindful of the bias toward seeking gene associations for cancer, considering it in their discussions with other researchers, and in appraising their work:

In genetics and genomics, literally everything is associated with cancer. If a gene has not been associated with cancer yet, it probably means it has not been studied enough and will most likely be associated with cancer in the future.

Says Dr. de Magalhes, In a scientific world where everything and every gene can be associated with cancer, the challenge is determining which are the key drivers of cancer and more promising therapeutic targets.

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Is every gene associated with cancer? - Medical News Today

Genetics

Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations – Baylor College of…

Identifying the genetic causes of rare neurodevelopmental disorders can be quite challenging. In a recent study, a global scientific team including researchers from Baylor College of Medicine, worked to find genetic answers for Turkish families.

Its very common in clinical practice to see a patient whose characteristics do not match what has been documented in the literature, limiting the physicians ability to guide clinical care and provide information about which other family members might be at risk, said Dr. Tadahiro Mitani, a postdoctoral associate in Dr. James R. Lupskis lab at Baylor College of Medicine.

In the current study, explains Mitani, who is the first author of the work by a team of 50 investigators from around the world, the researchers looked to identify the genetic causes of rare neurodevelopmental disorders in 234 subjects and 20 previously unsolved cases of affected families of the Turkish population.

To achieve this goal, we integrated improved genome-wide screening technologies, including exome sequencing and whole-genome sequencing, and newly developed computational tools and bioinformatic analyses to improve our ability to identify the genetic underpinnings of rare neurodevelopmental conditions, said co-corresponding author Dr. Davut Pehlivan, assistant professor of pediatrics neurology at BCM.

The researchers started this project in 2011 and over the years developed close collaborations with physicians and patients worldwide, as well as with researchers in the fields of genetics, genomics and bioinformatics. The team used GeneMatcher, a freely accessible web-based matchmaking service designed to enable connections between clinicians and researchers from around the world who share an interest in the same gene or genes.

The team identified new genes and confirmed genes previously associated with neurodevelopmental disorders.

They were able to make a molecular diagnosis in 181 of 254 (71%) of the individuals in this study and in approximately 80% of neurodevelopmental disorders overall. Twenty of the 181 diagnosed individuals had been studied before, but at the time the researchers did not identify a genetic diagnosis.

Our findings confirm that applying newly developed molecular and computational tools on existing data can provide answers to previously undiagnosed families, Pehlivan said.

Importantly, we also found an explanation for the diagnostic challenge presented by conditions with characteristics that do not match what has been reported in the medical literature, said Mitani, currently at Jichi Medical University, Tokyo, Japan. We determined that the accumulation of particular combinations of rare disease-causing gene mutations at multiple genes, a phenomenon called multilocus pathogenic variation, results in complex characteristics unique to each individual.

The original idea that a single disorder is caused by a mutation in a single gene does not explain the variety of complex neurodevelopmental disorders, Pehlivan explained.

In multilocus pathogenic variation, one patient may have multiple mutated genes. For instance, one gene mutation may result in muscle disease and a different gene mutation that leads to brain disease, while in another patient one mutation may affect the kidneys and another the brain.

The accumulation of specific combinations of rare multiple mutated genes results in conditions with complex characteristics that are unique to each individual.

Patients may present with neurodevelopmental disorders that share similarities but also have important differences, which need to be taken into consideration when deciding treatment and when evaluating risk for other family members.

In this study, for the first time we strictly applied a set of criteria to evaluate multilocus pathogenic variation in our patients and found that it was present in 28.9% of the cases in which we established a genetic diagnosis, Pehlivan said. Our findings confirm the value of routinely applying these criteria to assess the contribution of multilocus pathogenic variation to rare neurodevelopmental disorders and again revealed why genomic studies are superior to single gene testing.

The integrated analyses of the genetic and genomic characteristics of each patient enabled the team to improve their ability to reach a diagnosis in many cases, said co-author Dr. Zeynep Coban Akdemir, assistant professor at UT Health School of Public Health-Houston. Most patients with multilocus pathogenic variation are in consanguineous families.

With studies such as this one, we seek to tackle the challenge of finding the cause of currently unexplained rare genetic disorders, said co-author Dr. Jennifer Posey, assistant professor of molecular and human genetics at BCM. Posey also leads the newly launched BCM GREGoR (Genomic Research to Elucidate the Genetics of Rare) program, a part of the NIH-funded GREGoR Consortium.

The researchers comprehensive approach also adds a valuable resource of information to the study of the function of human genes, human biology and molecular mechanisms involved in neurodevelopmental disorders, all of which can lead to improved diagnosis and treatments.

For a complete list of the contributors to this paper, their affiliations and the financial support for the work, see the publication in The American Journal of Human Genetics.

By Ana Mara Rodrguez, Ph.D.

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Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations - Baylor College of...

Genetics

Rare Genetic Mutation in Utah Family Traced Across Continents And Over Centuries – ScienceAlert

Scientists have tracked a rare genetic disease that runs in a large American family in Utah all the way back to 1700s Denmark.

The dangerous genetic quirk is considered 'high-impact' because it puts people as young as 13 at risk of atrial fibrillation (AF). AF is a disease of the heart that is marked by an irregular and rapid heartbeat, and can sometimes lead to fatal blood clots or heart failure.

In the Utah family, adult individuals 18 years or older who were tested and found to carry the mutation had almost an 80 percent chance of showing signs of the disease.

Using an ancestry database and family trees to create ancestral birth location maps, researchers suspect this mutation originally came from Denmark, hitching a ride with Mormon migrants as they traveled across the Atlantic and much of the United States.

"The unique partnership between the University of Utah Health and AncestryDNA has broadened our understanding of human disease into a historical context, one that includes the history of our ancestral origins and population movement across time and continents," says genetics expert Lynn Jorde from the University of Utah.

The mutation in question is an allele called KCNQ1 R231H, and it has been previously reported in families of Northern European descent, where it seems to put people at greater risk of young-onset AF.

While some forms of young-onset AF are not hereditary, health records in Utah found at least five 'apparently' unrelated families where it was.

A 13-year-old with paroxysmal AF, for instance, was found to have a mother with a history of cardiac arrest, as well as a maternal aunt that died in her sleep in her early 20s.

In all five families with inherited young-onset AF, genetic sequencing found the KCNQ1 R231 allele was responsible.

"Looking forward, our results also provide a glimpse of how large ancestry databases can be used to better understand the geographic distributions of persons at risk for particular genetic diseases, a necessary prelude to precision health care outreach activities," the authors write.

One family in Utah that held the KCNQ1 R231H allele agreed to have their genetic mutation assessed further. In this family, five AF-risk allele carriers consented to having their DNA submitted to the AncestryDNA database.

In the end, researchers found genetic matches for all five individuals in the database, and 824 individuals seemed to share their same genetic quirk.

Creating an algorithm to track these chromosomes over time and space, researchers created a possible timeline for the family's mutation.

The young-onset AF gene seems to come from their ancestors in Denmark way back in the 1700s. From 1800 to 1850, these ancestors then migrated to the Eastern United States, and by the 1900s, they had arrived in Utah.

That isn't the whole picture, however. Whole-genome sequencing suggests the KCNQ1 R231H allele goes back 5,000 years, plaguing some 200 generations. But our genetic databases and family timelines don't go back that far.

Nevertheless, 300 years is still an impressive timeline, long enough for researchers to help identify people in the US today who might be at risk of young-onset AF because of their genes.

"Any genetic variant that imparts risk of a potentially lethal, yet treatable, condition provides abundant motivation for the development of methods to identify at-risk individuals," the authorsconclude.

"Here, we offer an example of such a method in characterization of the KCNQ1 R231H mutation and identification of carriers thereof. While portions of our method are unique to the resources of AncestryDNA, much of it can be applied to any large genotype database."

The study was published in Nature Communications.

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Rare Genetic Mutation in Utah Family Traced Across Continents And Over Centuries - ScienceAlert

Genetics

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health | European Journal of Human…

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Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health | European Journal of Human...