Category Archives: Human Genetics

There are only a few thousand known cases of the condition of congenital insensitivity to pain worldwide. Picture courtesy of Natali Brillianata / Shutterstock via ETX Studio

PARIS, April 10 Patrice Abela first knew something was wrong when his eldest daughter was learning to walk and her feet left trails of blood behind her, yet she showed no sign of distress.

She was soon diagnosed with congenital insensitivity to pain, an extremely rare and dangerous genetic disorder that dooms sufferers to a lifetime of hurting themselves in ways they cannot feel.

Abela, a 55-year-old software developer in the southern French city of Toulouse, then watched in horror as his youngest daughter was revealed to have the same condition.

Now aged 12 and 13, the two girls spend around three months of every year in hospital.

When they take a shower, they perceive hot and cold, but if it burns they dont feel anything, the father of four told AFP.

Due to repeated infections, my eldest daughter lost the first joint of each of her fingers. She also had to have a toe amputated.

Repeated knee injuries have left both girls only able to move around using crutches or a wheelchair.

Abela said they may not feel physical pain but lamented their intense psychological pain.

Aiming to raise awareness about the disease and challenge the scientific community, Abela plans to run the equivalent of 90 marathons in fewer than four months. He plans to start on April 12, following the route of this years Tour de France from Copenhagen to Paris.

Danger everywhere

A life without pain might sound like a dream come true but the reality is more like a nightmare.

There are only a few thousand known cases of the condition worldwide. The low number is believed to be partly due to sufferers often not living into adulthood.

Pain plays a major physiological role in protecting us from the dangers of our environment, said Didier Bouhassira, a doctor at the centre for pain evaluation and treatment at Ambroise-Pare hospital in Paris.

In the most extreme cases, babies will mutilate their tongue or fingers while teething, he told AFP.

Then comes a lot of accidents, burns, walking on fractured limbs which heal badly, he added.

They have to be taught what is innate in others: to protect themselves.

But when there are no warning signs, danger lurks everywhere.

Appendicitis, which announces itself in others via symptoms like pain and fever, can fester into a devastating general infection of the abdomen.

Blindness can also occur because the eye must always be kept moist and the nervous system controls these processes via the so-called blink reflex, said Ingo Kurth of Germanys Institute of Human Genetics.

New painkiller hopes

Congenital insensitivity to pain (CIP) was first recognised in the 1930s, and numerous studies have since identified a genetic mutation that blocks a persons ability feel pain.

We have learned that there are now more than 20 genetic causes of congenital or progressive insensitivity to pain, Kurth told AFP.

There is no cure and no real drug breakthroughs have been made so far, Kurth said.

But our understanding of the molecular causes of CIP continues to reveal new targets, and based on this, hopefully new therapies will be developed in the coming years.

There are also hopes that studying how CIP works could lead to the development of a new kind of painkiller, prompting huge interest from pharmaceutical giants seeking a fresh product in the billion-dollar industry of pain relief.

In this way, the unlucky few with CIP could contribute to the creation of a treatment that would help everyone in the world except themselves. AFP

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The suffering of those who cannot feel pain - Malay Mail

New research has identified 75 regions of the human genome involved in Alzheimer's development. File photo by BillionPhotos.com/Shutterstock

April 4 (UPI) -- An international team of researchers has identified 75 regions of the human genome associated with the development of Alzheimer's disease, including 42 never before linked with the common form of dementia, they said Monday.

After analyzing the genomes, or complete genetic data, for thousands of people, the researchers found 75 loci, or regions, of DNA involved in Alzheimer's, they reported in an article published Monday by the journal Nature Genetics.

Several of the identified regions of the genome are involved in the accumulation of amyloid-beta in the brain, which is known to cause Alzheimer's, according to the researchers.

In addition, they identified genes that affect production of a protein called tau that is found in brain cells. Changes in tau production also have been linked with Alzheimer's disease, the researchers said.

Based on their findings, the researchers have developed a genetic "risk score" for Alzheimer's, though it is still in the draft stage and is not yet ready for use in clinical practice, they said.

"Our knowledge of the genetics of AD common forms cannot allow it to be used as an individual diagnostic tool yet," study co-author Jean-Charles Lambert told UPI in an email.

"On the other hand, we show in our paper that this knowledge makes it possible in populations to define groups of individuals more or less at risk of developing the [disease]," said Lambert, research director at Inserm in Lille, France.

On Thursday, researchers working with the National Human Genome Research Institute announced that they had mapped a complete human genome for the first time.

This map could serve as a "reference," or guide, for researchers seeking to identify the genetic component of various diseases and traits, they said.

Amyloid-beta and tau have both been linked with Alzheimer's, the most common form of dementia in the United States, affecting some 6 million people, most of whom are age 65 years and older, according to the Alzheimer's Association.

However, it is not yet fully understood why some people have higher levels of amyloid-beta in their brains than others, placing them at higher risk for cognitive, or brain function, decline, Lambert said.

Most cases of Alzheimer's are thought to be caused by the interaction of different genetic and environmental factors, the latter of which include air pollution, research suggests.

In addition to identifying the genome regions behind amyloid-beta and tau development, Lambert and his colleagues also noted that many people with Alzheimer's also have modifications, or changes, in the genome that impact immune response, they said.

These changes affect the function of microglia, or the immune cells in the central nervous system that play a "trash collector" role by eliminating toxic substances, the researchers said.

The analysis also revealed that the tumor necrosis factor alpha-dependent signaling pathway, which plays a role in cell development, according to researchers.

The findings suggest that future clinical trials of therapies designed to treat Alzheimer's should focus on targeting amyloid-beta, microglial cells and the tumor necrosis factor alpha signaling pathway, they said.

They plan to validate the accuracy of their genetic risk score in future studies.

"This genetic knowledge will be the basis of personalized medicine" for Alzheimer's patients, Lambert said.

"This research is important today for the development of therapeutic approaches but in the not-so-distant future, for the clinical management of patients at the earliest stage," he said.

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Researchers identify regions of genome involved in Alzheimer's - UPI News

BOSTON Observational research has suggested that light alcohol consumption may provide heart-related health benefits, but in a large study published in JAMA Network Open, alcohol intake at all levels was linked with higher risks of cardiovascular disease. The findings, which are published by a team led by researchers at Massachusetts General Hospital (MGH) and the Broad Institute of MIT and Harvard, suggest that the supposed benefits of alcohol consumption may actually be attributed to other lifestyle factors that are common among light to moderate drinkers.

The study included 371,463 adultswith an average age of 57 years and an average alcohol consumption of 9.2 drinks per weekwho were participants in the UK Biobank, a large-scale biomedical database and research resource containing in-depth genetic and health information. Consistent with earlier studies, investigators found that light to moderate drinkers had the lowest heart disease risk, followed by people who abstained from drinking. People who drank heavily had the highest risk. However, the team also found that light to moderate drinkers tended to have healthier lifestyles than abstainerssuch as more physical activity and vegetable intake, and less smoking. Taking just a few lifestyle factors into account significantly lowered any benefit associated with alcohol consumption.

The study also applied the latest techniques in a method called Mendelian randomization, which uses genetic variants to determine whether an observed link between an exposure and an outcome is consistent with a causal effectin this case, whether light alcohol consumption causes a person to be protected against cardiovascular disease. Newer and more advanced techniques in non-linear Mendelian randomization now permit the use of human genetic data to evaluate the direction and magnitude of disease risk associated with different levels of an exposure, says senior author Krishna G. Aragam, MD, MS, a cardiologist at MGH and an associate scientist at the Broad Institute. We therefore leveraged these new techniques and expansive genetic and phenotypic data from biobank populations to better understand the association between habitual alcohol intake and cardiovascular disease.

When the scientists conducted such genetic analyses of samples taken from participants, they found that individuals with genetic variants that predicted higher alcohol consumption were indeed more likely to consume greater amounts of alcohol, and more likely to have hypertension and coronary artery disease. The analyses also revealed substantial differences in cardiovascular risk across the spectrum of alcohol consumption among both men and women, with minimal increases in risk when going from zero to seven drinks per week, much higher risk increases when progressing from seven to 14 drinks per week, and especially high risk when consuming 21 or more drinks per week. Notably, the findings suggest a rise in cardiovascular risk even at levels deemed low risk by national guidelines from the U.S. Department of Agriculture (i.e. below two drinks per day for men and one drink per day for women).

The discovery that the relationship between alcohol intake and cardiovascular risk is not a linear one but rather an exponential one was supported by an additional analysis of data on 30,716 participants in the Mass General Brigham Biobank. Therefore, while cutting back on consumption can benefit even people who drink one alcoholic beverage per day, the health gains of cutting back may be more substantial and, perhaps, more clinically meaningful in those who consume more.

The findings affirm that alcohol intake should not be recommended to improve cardiovascular health; rather, that reducing alcohol intake will likely reduce cardiovascular risk in all individuals, albeit to different extents based on ones current level of consumption, says Aragam.

The studys lead author was Kiran J. Biddinger, and additional authors included Connor A. Emdin, MD, DPhil, Mary E. Haas, PhD, Minxian Wang, PhD, George Hindy, MD, Patrick T. Ellinor, MD, PhD, Sekar Kathiresan, MD, and Amit V. Khera, MD, MSc.

Funding was provided by the National Institutes of Health and the American Heart Association.

About the Massachusetts General HospitalMassachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The Mass General Research Instituteconducts the largest hospital-based research program in the nation, with annual research operations of more than $1 billion and comprises more than 9,500 researchers working across more than 30 institutes, centers and departments. In August 2021, Mass General was named #5 in theU.S. News & World Reportlist of "Americas Best Hospitals."

JAMA Network Open

Data/statistical analysis

People

Association of Habitual Alcohol Intake With Risk of Cardiovascular Disease

25-Mar-2022

Dr Haas reported receiving personal fees and stock and stock options from Regeneron Pharmaceuticals outside the submitted work. Dr Ellinor reported receiving grants from Bayer AG and IBM Health and personal fees from Bayer AG, MyoKardia, Quest Diagnostics, and Novartis during the conduct of the study. Dr Kathiresan reported being an employee of Verve Therapeutics; owning equity in Verve Therapeutics, Maze Therapeutics, Color Health, and Medgenome; receiving personal fees from Medgenome and Color Health; serving on the advisory boards for Regeneron Genetics Center and Corvidia Therapeutics; and consulting for Acceleron, Eli Lilly and Co, Novartis, Merck, Novo Nordisk, Novo Ventures, Ionis, Alnylam, Aegerion, Haug Partners, Noble Insights, Leerink Partners, Bayer Healthcare, Illumina, Color Genomics, MedGenome, Quest Diagnostics, and Medscape outside the submitted work. Dr Khera reported receiving personal fees from Merck, Amarin Pharmaceuticals, Amgen, Maze Therapeutics, Navitor Pharmaceuticals, Sarepta Therapeutics, Verve Therapeutics, Silence Therapeutics, Veritas International, Color Health, and Third Rock Ventures and receiving grants from IBM Research outside the submitted work. Dr Aragam reported receiving speaking fees from the Novartis Institute for Biomedical Research. No other disclosures were reported.

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.

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Large study challenges the theory that light alcohol consumption benefits heart health - EurekAlert

The fallopian tube is the site of fertilization, where once a month for the duration of a females post-pubescent, pre-menopausal life, an egg is moved from the ovary, ready for fertilization by a sperm cell.

A new study from Michigan Medicine researchers creates a detailed "atlas" of the various cell types and their gene activities within the highly specialized fallopian tube, paving the way for new research into infertility and other diseases affecting this organ, including some cancers.

Using tissue samples from four premenopausal women,Saher Sue Hammoud, Ph.D., andJun Li, Ph.D.from the Department of Human Genetics led a team at U-M to analyze almost 60,000 cells by single-cell RNA sequencing. They used the data to characterize the diversity of cells that make up the fallopian tube, including both the lining of the tube (the epithelium) and the deeper stromal layer, consisting of immune, blood, muscle, and other cells.

Hammoud and Li are joined byAriella Shikanov, Ph.D.,of the Department of Biomedical Engineering,Erica Marsh, M.D.,of the Department of Obstetrics and Gynecology, and team membersNicole Ulrich, M.D.,Yu-chi Shen, Ph.D., andQianyi Ma, Ph.D.Their project is part of the Human Cell Atlas Seed Networks, an international effort supported by the Chan-Zuckerberg Initiative to map all cells in the human body as a resource for better understanding health and disease.

Prior to their work, it was known that there are about four epithelial cell types in the fallopian tube, said Hammoud. We were able to reveal a deeper level of heterogeneity within these cells.

Specifically, they identified 10 epithelial cell subtypes, including four of the finger-like ciliated cells responsible for moving the egg through the fallopian tubes three sections before and after fertilization.

The cells within the fallopian tube are ever changing, replenishing themselves over time and varying in number depending on a womans age, hormones, menstrual cycle, and in the presence of disease. By comparing cells from women with healthy fallopian tubes to two samples from women with a fallopian tube disease known as hydrosalpinx (conventionally known as a blocked fallopian tube), the researchers were able to pinpoint which cells increased in number, and which changed characteristics, such as a high degree of inflammation.

Some of the cells are the cause of the disease state, and some others are the consequence; and now we know the patterns for individual cell types to figure out the molecular reasons for that pathology, commented Li.

The team also found that some of the cell subtypes they defined in the fallopian tube may function as precursor cells, those that can regenerate multiple cell types in response to normal tissue turnover, or for repairing a damage.

One of the most surprising findings of the study, says Hammoud, was the discovery of cells with markers for epithelial-mesenchymal transition, also known as EMT, a process not previously associated with the fallopian tube, through which a cell can, under certain circumstances, become cancerous.

Ovarian cancer, it turns out, may be a misnomer. The new study adds to accumulating evidence that the root of ovarian cancerthe fifth leading cause of cancer death in womenmay originate within the adjacent fallopian tube.

The EMT process seems to be tightly regulated in the pre-menopausal woman, she said. One possible connection to cancer is that when there is misregulation in this population of cells in some unfortunate individuals, they may develop ovarian cancer. With EMT cells in the fallopian tube, you do have the predisposition right there.

Additional insights came from the fallopian tube cells from women with hydrosalpinx, specifically, that the disease may lead to a type of scarring called fibrosis. The implication is that for women who dont want to have their tubes removed, you could think about treating them with anti-fibrotic drugs such as the ones used to treat lung fibrosis as a way to save their tubes during reproductive age, noted Hammoud.

Compared to past efforts, the study provides much more detailed information about cell types and functions in the tube for researchers interested in a host of questions about the normal female reproductive system. This really is a basecamp to launch future studies, says Li, including ones that look at the effects of age, the menstrual cycle, hormone therapy, and ancestral background on cellular diversity and disease pathology.

Reference:Ulrich ND, Shen Y chi, Ma Q, et al. Cellular heterogeneity of human fallopian tubes in normal and hydrosalpinx disease states identified by scRNA-seq. Dev. Cell. 2021. doi: 10.1101/2021.09.16.460628

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

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Detailed Cell Atlas of the Fallopian Tube Created - Technology Networks

TUESDAY, March 22, 2022 (HealthDay News) -- Antibodies from a COVID-19 infection linger in most children for up to seven months, even if they had no symptoms, a new study finds.

To come to that reassuring conclusion, researchers analyzed data from 218 children in Texas, ages 5 to 19, who were enrolled in an ongoing survey launched in October 2020 to track COVID-19 antibody status in children and adults over time.

Blood samples were collected from participants before vaccines became available and during the surges of the Delta and Omicron variants.

While 96% of children who were infected with COVID-19 still had antibodies at least six months later, 58% did not have infection-triggered antibodies at their third and final blood test.

The report, published March 18 in the journal Pediatrics, did not assess the impact of vaccination.

"This is the first study from the Texas CARES survey that includes data from all three time points in the survey," said corresponding author Sarah Messiah. She is a professor of epidemiology, human genetics and environmental sciences at the University of Texas Health Science Center at Houston.

"These findings are important because the information we collected from children infected with COVID-19 didn't differ at all by whether a child was asymptomatic, severity of symptoms, when they had the virus, were at a healthy weight or had obesity, or by gender," she added in a university news release. "It was the same for everyone."

To date, 14 million children in the United States have tested positive for the virus, and these findings help improve understanding of how it affects children, according to Messiah.

"Adult literature shows us that natural infection, plus the vaccine-induced protection, gives you the best defense against COVID-19. There has been a misunderstanding from some parents who think just because their child has had COVID-19, they are now protected and don't need to get the vaccine," Messiah said.

"While our study is encouraging in that some amount [of] natural antibodies last at least six months in children, we still don't know the absolute protection threshold," she added. "We have a great tool available to give children additional protection by getting their vaccine, so if your child is eligible, take advantage of it."

More information

For more on children and COVID-19, go to the American Academy of Pediatrics.

SOURCE: University of Texas Health Science Center at Houston, news release, March 18, 2022

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Antibodies From COVID Infection Shield Kids for Up to 7 Months - HealthDay News

All writers in Op Ed are here to inform and acknowledge issues of importance to our communities, however these writings represent the views and opinions of the authors and not necessarily of The Advertiser.

Robert Scott

Back in January,I wrote an OpEd about gender prejudice, and howone office holder expressed suchprejudice against transgender women in general and, specifically, prejudice regarding thethen-current Jeopardy champion,Amy Schneider.A discussion following that OpEdindicated thisprejudicewasbased ona generaldisbelief thatbeingtransgenderwas a medical and physical condition rather than a hoax or a so-called woke perception of something that was in fact not real.

We live in a complex world, and as our knowledge of human genetics and psychology increases,that complexity manifests itself ina number ofways. The validity of the transgender condition among some of our fellow human beings is one such complexity that is widely misunderstood,and thereforeit isnot yet accepted by many Americans. Our country has expanded its initial announced basis of liberty and freedom from All men are created equal as stated in the Declaration of Independence to include not just white men (as it wasgenerallyunderstood to mean in 1776) butallmenregardless of race, creed, or national origin;then, after generations of discussion,all men and women. We are struggling now to expand this to include all people, as evolving Science brings us into the knowledge that genderdoes not entirely fall into the binary categories we once thought. All people, we should now acknowledge, are not only created equal but are entitled to equal treatment as part of their inherent right to the pursuit of happiness.

SomeAmericans, including unfortunately some who represent us not only in Congress but in our State Legislature, continue to reject that notion. The latest manifestation of the gender prejudice inherent in such a rejection is a bill currently before the South Carolina Legislature entitled the Save Womens Sports Act.It should be voted down again (itfailed to be enacted last session), and here is why.The announced premise sounds reasonable enough: to require student athletes between grades 6 and 12 to compete in team sports based on the sex they were assigned at birth. Gender prejudice hides in the word assigned. The vast majority ofthefellow members ofourspecies are, indeed, fully male or fully female. But science is learning that for some small number, this is not the case. Some of them are inherently transgender havingimportantphysical and/or psychological traits appropriate to the gender opposite to that initial assignment, which really means assignment by our society based on an initialexternalassessment of just their plumbing.

If we recognize transgender youth as being who theyreallyare, even when they areonlyin grades 6 through 12, would that not compromise team sports, in particular by allowing some girls who were initially (and wrongly) assigned as males to play?Wouldnt suchchildrenhave an unfair advantage? The short answer isadvantage perhaps yes,but unfair advantageno not anymore than allowing exceptionally tall girls (or boys) toplay basketball despite being taller than anybody else, particularly anybody else in their school grade. If their pursuit of happiness includes trying out for a team and, if they are good enough, making that team, then we need to recognize and honor that. To do otherwise does not Save anybodys sports. It sets up a fundamental fairness issue thatis even more important to teach our children: in the United States of America, we assure to all people the unalienable rights to life, to liberty, and to the pursuit of happiness.Even transgender people.

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The Save Women's Sports Act The Edgefield Advertiser - Edgefieldadvertiser

About 1 in 44 children in the U.S. are diagnosed with autism spectrum disorder (ASD) by the age of 8, according to the 2018Centers for Disease Control and Prevention surveillance. How a childs DNA contributes to the development of ASD has been more of a mystery. Recently, clinicians and scientists have looked more closely at new, or de novo, DNA changes, meaning they only are present in affected individuals but not in the parents. Researchers have seen that these changes could be responsible for about 30% of ASD. However, which de novo variants play a role in causing ASD remains unknown.

Researchers at Baylor College of Medicine and Texas Childrens Hospital have taken a new approach to looking at de novo ASD genetic variants. In this multi-institutional study published in the journalCell Reports, they applied sophisticated genetic strategies in laboratory fruit flies to determine the functional consequences of de novo variants identified in theSimons Simplex Collection (SSC), which includes approximately 2,600 families affected by autism spectrum disorder. Surprisingly, their work also allowed them to uncover a new form of rare disease due to a gene called GLRA2.

ASDs include complex neurodevelopmental conditions with impairments in social interaction, communication and restricted interests or repetitive behaviors. In the current study, we initiated our work based on information from a cohort of ASD patients in the SSC whose genomes and those of their families had been sequenced, said co-corresponding authorDr. Shinya Yamamoto, assistant professor ofmolecular and human geneticsandofneuroscienceat Baylor and investigator at theJan and Dan Duncan Neurological Research Instituteat Texas Childrens. Our first goal was to identify gene variants associated with ASD that had a detrimental effect.

The team worked with thefruit fly lab modelto determine the biological consequences of the ASDassociated variants. They selected 79 ASD variants in 74 genes identified in the SSC and studied the effect of each ASDlinked gene variant compared to the commonly found gene sequence (reference) as a control, from three different perspectives.

Co-first author,Dr. Paul Marcogliese,postdoctoral fellow in Dr. Hugo Bellens lab, coordinated the effort on knocking out the corresponding fly gene, and examining their biological functions and expression patterns within the nervous system. They then replaced the fly gene with the human gene variant identified in patients, or the reference sequence, and determined how it affected biological functions in the flies.

Working with fruit flies carrying either the reference human gene or the variant forms, co-first authorDr. Jonathan Andrews, postdoctoral fellow inDr. Michael Wanglers lab at Baylor, was the point person investigating how these gene variants affected fly behavior. As ASD patients exhibit patterns of repetitive behavior as well as changes in social interaction, he evaluated the effect of the patient variants on an array of social and non-social fly behaviors, such as courtship and grooming. Its interesting to see that manipulation of many of these genes also can cause behavioral changes in the flies, Andrews said. We found a number of human genes with ASD variants that altered behavior when expressed in flies, providing functional evidence that these have functional consequences.

The third approach involved overexpressing the genes of interest in different tissue types in fruit flies. Co-first authorsSamantha Dealand Michael Harnish, two graduate students in Baylors Graduate Programs inDevelopmental BiologyandGenetics and Genomics, respectively, working in Dr. Yamamotos lab, headed these studies. While some gene variants may lead to conditions because they produce defective proteins, others may lead to disease because they cause overabundance or aberrant function of a particular protein, which can disrupt biological processes. We investigated whether overexpressing gene variants found in individuals with ASD might explain the detrimental effect for some of these genes, Deal said.

Altogether, the team generated more than 300 fly strains in which they conducted functional studies of human gene variants associated with ASD. Their screen elucidated 30 ASD-linked variants with functional differences compared to the reference gene, which was about 40% of the genes for which they were able to perform a comparative functional assay.

Some of the variants we studied had functional consequences that were moderately or clearly predicted to be disruptive, but other variants were a surprise. Even the state-of-the-art computational programs couldnt predict they would have detrimental effects, said Yamamoto. This highlights the value of using multiple, complementary approaches to evaluate the functional consequences of genetic variants associated with ASD or other conditions in a living animal. Our fruit fly approach is a valuable tool to investigate the biological relevance of gene variants associated with disease.

In addition, the wealth of data generated by the researchers revealed gene variants not previously connected with other neurodevelopmental diseases and uncovered new aspects of the complexity of genetic diseases.

GLRA2 was one gene we specifically focused on to follow up,Dr. Ronit Marom, assistant professor of molecular and human genetics at Baylor and lead clinician of this work said. We identified 13 patients, five males and eight females, carrying rare variants of this X-linked gene that had not been established as a neurological disease gene before. Furthermore, males and females carried variants with different types of functional consequences and the spectrum of neurological characteristics among these 13 patients was different between the two groups. For instance, many of the boys carried loss of function variants and had ASD, while the girls did not. They mainly presented with developmental delay as the main characteristic of their condition, and carried gain of function variants.

The picture that emerges is that ASD may not be one disorder involving many genes. It may actually be hundreds of genetic disorders, like those caused by certain GLRA2 variants, said Wangler, assistant professor of molecular and human genetics at Baylor and co-corresponding author of the work. We think that this information is important to physicians seeing patients with ASD.

Reference:Marcogliese PC, Deal SL, Andrews J, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022;38(11). doi:10.1016/j.celrep.2022.110517

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

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Study Uncovers Functional Role of Genes Associated With Autism - Technology Networks

HOUSTON Children who get COVID-19 have natural antibodies that last for about seven months, according to a new study. But scientists say vaccines are still vital in order for them to get the best protection from the SARS-CoV-2 virus.

The study also shows that antibodies last the same amount of time in children whether they were asymptomatic or it was severe. It also does not matter whether they are at a healthy weight or obese, and there is also no difference by gender.

In the study, researchers at The University of Texas Health Science Center at Houston (UTHealth) examined data from 218 children between the ages of 5 and 19 who were enrolled in the Texas CARES study. The project assesses antibody status over time. Volunteers provided researchers with three separate blood draws, once during the COVID-19 vaccine rollout and again during the Delta and Omicron variants.

The study finds that 96 percent of the children infected with COVID-19 continued to have antibodies up to seven months later. Over half (58 percent) were negative for infection-induced antibodies at their third and final measurement.

To date, more than 14 million kids in the U.S. have tested positive for the virus. Study authors say even after their findings, its still wise for parents to have their kids vaccinated.

Adult literature shows us that natural infection, plus the vaccine-induced protection, gives you the best defense against COVID-19, says study co-author Sarah Messiah, a professor of epidemiology, human genetics, and environmental sciences at the schools Dallas campus, in a statement. There has been a misunderstanding from some parents who think just because their child has had COVID-19, they are now protected and dont need to get the vaccine. While our study is encouraging in that some amount of natural antibodies last at least six months in children, we still dont know the absolute protection threshold. We have a great tool available to give children additional protection by getting their vaccine, so if your child is eligible, take advantage of it.

The study is published in Pediatrics.

South West News Service writerJoe Morgan contributed to this report.

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Children infected with COVID-19 have natural antibodies that last for 7 months - Study Finds

Dr Miriam Stoppard reports on a discovery which could help us to understand the ageing process and how key proteins could help us to live longer, healthier lives

Image: Getty Images)

For years, Ive followed the research on ageing that seeks to slow down the process. So are we any closer to achieving what could be the Holy Grail of medicine?

Studies from Edinburgh University investigating which proteins could influence how we grow old hint that we might be.

In the largest genetic study of ageing, scientists have uncovered two blood proteins that influence how long and healthy a life well live.

Their ambition is to develop drugs that target these proteins as a way of slowing down the whole process.

From adulthood onwards our bodies are in inevitable decline, which results in age-related diseases and eventually death.

The rate at which we age and die depends on genetics, lifestyle, environment and chance. This study reveals the part played by the proteins (the genetics) in this process.

Image:

Our levels of these are determined by the DNA we inherit from our parents and they, in turn, affect our health.

Scientists combined the results of six large genetic studies into ageing totalling hundreds of thousands of people. They studied 857 proteins and identified two that had powerful negative effects on growing older.

For instance, people who inherited DNA that causes raised levels of these proteins were frailer, had poorer self-rated health, and were less likely to live an exceptionally long life than those who didnt.

So, what do these proteins do? The first, LPA, is made in the liver and thought to play a role in blood clotting.

High levels of LPA can increase the risk of hardening of arteries which leads to heart disease and stroke.

The second protein, VCAM1, resides on the lining of blood vessels and controls their expansion and contraction in blood clotting and the immune response.

Levels of VCAM1 increase when we have an infection and this gingers up the immune system.

The researchers say with drugs that lower levels of LPA and VCAM1, we might improve the quality and length of our lives.

Theres already a clinical trial testing a drug to lower LPA as a way of diminishing the risk of heart disease, and VCAM1 in early animal studies improved cognition during old age.

The identification of these two key proteins could help extend the healthy years of life, says Dr Paul Timmers, lead researcher at the MRC Human Genetics Unit at Edinburgh University.

Drugs that lower these protein levels in our blood could allow the average person to live as healthy and as long as individuals whove won the genetic lottery and are born with genetically low LPA and VCAM1 levels.

Brave new world!

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'There are two blood proteins that could hold the key to a long, healthy life' - The Mirror

A citizen jury of 25 people is being sought to consider how should genetics be applied and regulated with a view to improving health outcomes in the Irish population and providing oversight.

While the human genome has the potential to be used to improve and save lives, deploying genomics and gene technology in treatment and research is one of the most challenging medical ethical issues facing regulators and governments, as it is not without risks.

To consider how future regulation should be shaped, the Irish Platform for Patients Organisations, Science & Industry (IPPOSI) in collaboration with Royal College of Surgeons in Ireland (RCSI) Public Patient Involvement Office, is attempting to reach a verdict through a group broadly representative of the Irish population. It will be presented to the Government and policymakers to help shape future regulation.

Members of the public will be invited to hear arguments for and against, and to deliver judgment. They will be guided by an independent oversight panel with representatives from Rare Diseases Ireland, Health Research Charities Ireland and RCSI University .

The initiative was an opportunity to seek the publics views on an area urgently needing robust oversight, said IPPOSI board member, said Prof Orla Hardiman.

The human genome is the blueprint for our bodies. Made up of DNA, no human genome is the same, and tiny glitches in that DNA can give rise to serious illness and disability. Developing genomic medicine that is specific to a persons DNA can have a transformative effect on their lives and future health and wellbeing, as well as for wider society, she said.

There was a need to maximise benefits and to minimise risks that come with genomic research and to ensure appropriate structures and guidelines are in place so that everything we do benefits us collectively as a society, said Prof Hardiman.

As a doctor and a scientist, I have seen the benefits of genomic research. But at the moment, as a society, we need to understand what the best approaches are that will allow us to conduct meaningful research that benefits everybody. Its important that we hear from the Irish people about what they are comfortable with when it comes to giving consent for genetic research, and the types of information that is needed to understand how their genetic data will be used, she added.

IPPOSI is a patient-led, non-profit alliance of 105 patient organisations, more than 250 scientists and 23 companies that work together to improve lives of people with a chronic and/or rare disease.

Its chief executive, Derick Mitchell, said genomic research was a double-edged sword, while the Government and policymakers needed to consider views of the public.

There are many challenges around genomics. Notwithstanding these, many of IPPOSIs members living with chronic and rare diseases believe that if we get it right, it offers the potential for scientific and medical breakthroughs that will enable patients receive a quicker diagnosis and a treatment plan that is personalised to them.

Genomics could also potentially be used for other less altruistic purposes, he acknowledged. Conceivably, employers, banks, insurance companies and businesses could use this information to discriminate against one person over another in the provision of services.

They wanted to explore opportunities presented by genomics, as well as challenges that may arise from a social, ethical, legal, and practice point of view. What rules do we need to have in place around how genetic information is stored, who can access it, whether the information can be deleted on request, and safeguards to protect it from getting into the wrong hands?

Potential jurors do not have to have a science or medical background, or know anything about genomics. During June 2022, jury members will meet for sittings chaired by an independent facilitator. They will have the opportunity to hear testimony and to cross-examine witnesses who are expert not only in the field of genomics but also in areas of medical care, ethics and law.

The verdict, once announced, will be considered in follow-on deliberative dialogue workshops during September. To be a member of the jury, people must be over 18 and living in the Republic. Successful applicants will be randomly selected through an independent process overseen by an academic expert in data protection, informatics and ethics, to ensure representation from a cross-section of the population.

For further information and to make an application, visit ipposi.ie the closing date is Wednesday March 23rd.

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Citizens' jury needed to deliver verdict on use of genomics in State - The Irish Times