All articles tagged: Genetics

Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment periods.

A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing critical insights into the causes of a severe neurological disorder known as developmental and epileptic encephalopathy (DEE). The findings reveal that this specific mutation in a regulatory calcium channel subunit disrupts both the calcium handling and structural connection

The combination of common DNA differences can help explain why some people have a rare neurodevelopmental brain condition without a specific, single genetic mutation causing it.

The first "blueprint" of human skeletal development reveals how the skeleton forms, shedding light on the process of arthritis, and highlighting cells involved in conditions that affect skull and bone growth.

Children living in war-torn countries not only suffer from poor mental health outcomes, but war may cause adverse biological changes at the DNA level, which could have lifelong health impacts, according to a study from the University of Surrey.

Neuroticism is a key personality trait described by well-established psychological theories, associated with a tendency towards emotional instability and negative emotions. Past studies found that this personality trait often goes hand in hand with various mental health disorders, as well as some chronic and severe medical conditions.

Researchers described a promising new approach for using gene therapy to treat sickle cell disease in the journal Human Gene Therapy. To improve the efficacy of gene therapy when using anti-sickling beta globin gene transfer, they added cyclosporin (CsH) to increase transduction by inhibiting lentiviral restriction factors.

Candida parapsilosis is a yeast fungus that can colonize the skin and digestive tract of humans and is usually harmless. However, it can cause severe wound and tissue infections, including life-threatening septicemia, in people who are immunocompromised as a result of cancer or organ transplants or with serious medical conditions requiring prolonged hospitalization.

A new pregnancy health cohort study involving over 20,000 families has identified common complications, high-risk groups, and geographical trends through biological samples collected across China.

A new study introduces an innovative tool for exploring gene-disease connections: the PWAS Hub. This resource is based on the novel approach of the proteome-wide association study (PWAS), which complements traditional genetic analysis methods like the genome-wide association study (GWAS) by focusing on the effects of genetic variations on the biochemical function of all protein-coding genes.

Polygenic risk scores (PRSs) are a cutting-edge tool in genetics, combining information from genetic markers across the genome to estimate a person's risk of developing certain diseases, such as coronary artery disease (CAD). By analyzing a person's DNA, PRSs offer insights into an individual's genetic predisposition for conditions like heart disease, potentially informing a more personalized appr

A molar pregnancy, also known as a hydatidiform mole, is an abnormal human pregnancy with no embryo and an overgrowth of the cells that form the placenta. The common form of molar pregnancy affects one in every 600 pregnancies in Quebec.

Mitochondrial diseases are among the most prevalent hereditary metabolic disorders, known to occur in 1 out of every 5,000 births. Single nucleotide variations, indels, and structural variations are known to cause these disorders.

Scientists at deCODE genetics and collaborators have published a study in the Journal of Allergy and Clinical Immunology reporting a rare missense variant in STAT6 that protects against asthma.

Research that was carried out by Baylor College of Medicine and Texas Children's Hospital doctors has led to the U.S. Food and Drug Administration (FDA) granting Orphan Drug Designation to a treatment for developmental and epileptic encephalopathy (DEE) due to syntaxin-binding protein 1 (STXBP1) mutations.

In what could one day become a new treatment for epilepsy, researchers at UC San Francisco, UC Santa Cruz and UC Berkeley have used pulses of light to prevent seizure-like activity in neurons.The study appears Nov. 15 in Nature Neuroscience.

A multitude of genes have been linked to the development of Alzheimer's disease. Specifically how those genes might influence the progression of neurodegeneration remains something of a black box though, in part because of the challenges of examining in molecular detail the brain of a living patient.

Tel Aviv University researchers have made a discovery that could enhance our understanding of genetic mutations and their role in brain development.

Gene therapy can effectively treat various diseases, but for some debilitating conditions like muscular dystrophies there is a big problem: size. The genes that are dysfunctional in muscular dystrophies are often extremely large, and current delivery methods can't courier such substantial genetic loads into the body.

Scientists at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have uncovered an unexpected role for the molecule netrin1 in organizing the developing spinal cord.

A new, multinational study has revealed that the shape of the human heart, influenced by genetic factors, could serve as a valuable predictor for cardiovascular disease risk.

QIMR Berghofer researchers have made a groundbreaking discovery in the largest ever genetic study on cataracts, analyzing the DNA of more than 950,000 people.

Researchers at National Jewish Health and colleagues have identified a mechanism involved in the formation of mucus plugs in asthma. Mucus plugs are thick, sticky accumulations of mucus that can form in asthma patients resulting in the blockage of airways. The researchers identified a protein involved in the generation of pathologic mucus present in plugs, which is a prominent feature of the disea

A University of Otago-led study has found a highly vulnerable weakness in drug-resistant Mycobacterium tuberculosis, offering new possibilities for treatment.

The genetic mutation that causes Huntington's disease (HD)—a devastating brain disease that disrupts mobility and diminishes cognitive ability—may also enhance early brain development and play a role in promoting human intelligence.

UAB researchers have reversed metabolic dysfunction-associated steatohepatitis (MASH) in mouse models. MASH is a severe liver disease associated with obesity and type 2 diabetes that affects more than 40 million people. The results were obtained with a single intramuscular administration of the therapeutic viral vectors.

A study published in Gastroenterology provides novel genetic insights into dietary preferences and opens the possibility of targeting SI to selectively reduce sucrose intake at the population level.

A team of medical researchers at the National Institute on Alcohol Abuse and Alcoholism has identified some of the genes and proteins associated with alcohol use disorders. In their project reported in the journal Nature Human Behaviour, the group studied gene expression in brain cells and compared it with data from prior studies to learn more about why consumption of alcohol impacts people differ

Researchers at Tel Aviv University (TAU) discovered a new factor in the pathology of Parkinson's disease, which in the future may serve as a target for developing new treatments for this terrible ailment, affecting close to 10 million people worldwide.

Diamond-Blackfan anemia (DBA) is a potentially life-threatening condition that can cause severe anemia and other abnormalities. It's a rare genetic blood disorder that occurs when the bone marrow fails to make red blood cells.

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted by researchers at Baylor College of Medicine, National University of Singapore and collaborating institutions worldwide, was published in Genetics in Medicine.

Research scientist Yosuke Tanigawa and Professor Manolis Kellis at MIT Computer Science and Artificial Intelligence Laboratory (CSAIL) have developed a novel methodology in human genetics to address an often-overlooked problem: how to handle clinical measurements that fall "below the limit of quantification" (BLQ).

How does an extra X chromosome lead to infertility in men? Professor Qiao Jie and her team at Peking University Third Hospital revealed why Klinefelter syndrome, a common genetic condition affecting one in every 600 men, often leads to infertility—and they've identified a potential way to treat it.

Geneticists looking inside the nuclear genome for mutations that contribute to disease have long relied on a principal known as constraint modeling, which allows researchers to assess the degree of selective pressure that leads to the purging of certain gene variants. But while constraint models have been highly effective for identifying disease-causing variants in the nuclear genome, they have no

Lumbar disk herniation is one of the most common structural changes in the lower back and the most common cause of radiating pain, or sciatica, in the leg. Hereditary risk factors for disk herniations were investigated in an international study led by a University of Oulu research group, utilizing data from FinnGen, the Estonian Biobank, and the UK Biobank. The study, published in Nature Communica

A study, published in the journal Neurology has explored whether healthy lifestyle choices, measured by a Brain Care Score (BCS), can lower the risk of stroke, late-life depression (LLD) and dementia, in individuals who are genetically predisposed to these conditions.

In a new study, a team of researchers, including Anneliene Jonker, has published, in Nature Reviews Drug Discovery, the first roadmap for developing genetic therapies for ultra-rare diseases. These conditions affect only one person worldwide and stem from unique genetic mutations.

RCCS San Raffaele Scientific Institute in Milan researchers have discovered that hematopoietic stem cells (HSCs) adapt their lineage commitment during gene therapy based on the underlying genetic disease.

Along with defending against pathogens, the body's innate immune system helps to protect the stability of our genomes in unexpected ways—ways that have important implications for the development of cancer, researchers at Memorial Sloan Kettering Cancer Center (MSK) are discovering.

Researchers at UNSW Sydney and the University of Technology Sydney (UTS) have developed a new genomic test that can identify the specific strains of whooping cough (bacterium Bordetella pertussis).

Rheumatoid arthritis is a common disease affecting an estimated 17 million people worldwide. The disease is caused by immune cells attacking the joints and can result in pain, swelling, and damage to the cartilage and bone. People with rheumatoid arthritis often develop osteoporosis, a more serious condition, as a result of the bone damage caused by immune cells and as a side effect of certain med

Using a new technique, long-read sequencing, that allows DNA to be analyzed in much greater detail than before, a team of Swedish clinicians and researchers has discovered an unexpected complexity in chromosomal abnormalities. The study, published in Genome Research, opens the door to more precise and effective treatment of patients with rare diseases that currently lack clear diagnoses.

Chronic viral hepatitis is the long-term inflammation of the liver. It is caused by hepatitis B, C or D virus particles. Even though these viruses replicate differently, they all use the endoplasmic reticulum-Golgi pathway for replication, where the TM5SF2 gene is located.

We use our lips to talk, eat, drink, and breathe; they signal our emotions, health, and aesthetic beauty. It takes a complex structure to perform so many roles, so lip problems can be hard to repair effectively. Basic research is essential to improving these treatments, but until now, models using lip cells—which perform differently to other skin cells—have not been available.

Cirrhosis, hepatitis infection and other causes can trigger liver fibrosis—a potentially lethal stiffening of tissue that, once begun, is irreversible. For many patients, a liver transplant is their only hope. However, research at Cedars-Sinai in Los Angeles may offer patients a glimmer of hope. Scientists there say they've successfully reversed liver fibrosis in mice.

In a recent study, the regulatory role of the long noncoding RNA (lncRNA) Gm20257 in pathological cardiac hypertrophy has been elucidated, offering new insights into potential therapeutic targets. Pathological cardiac hypertrophy, a condition characterized by an abnormal increase in heart muscle size, can lead to heart failure if left unchecked.

Using sequencing techniques, researchers associated 51 mutations in mitochondrial DNA with amyotrophic lateral sclerosis (ALS), an incurable degenerative neurological disorder that leads to muscle atrophy and paralysis. Thirteen of the mutations increased the risk of ALS, while 38 were protective. The study suggests these mutations may be important for future tests and research on ALS.

Most people who visit a doctor when they feel unwell seek a diagnosis and a treatment plan. But for some 30 million Americans with rare diseases, their symptoms don't match well-known disease patterns, sending families on diagnostic odysseys that can last years or even lifetimes.

It is commonly known that most genomic databases are biased toward people with European ancestry. Scientists have warned that leaving out other populations could skew results in areas such as drug development, diagnostic testing, and polygenic risk scores—which looks at many genetic variations in a person's DNA to predict their disease risk.

Scientists from the University of Nottingham have developed a new method of genetic analysis, which extracts more precise data than previously used methods when looking at DNA, and will improve our understanding of the genetic basis of rare and complex diseases.

Neuropathic pain is a severe clinical condition caused by damage to the nervous system. It often feels like a burning, shooting, tingling ice or stabbing sensation. Conditions such as diabetes or nerve injury can cause neuropathic pain, which is often long lasting and has a major impact on quality of life. It is difficult to treat because the underlying factors and mechanisms are unknown. Currentl

A research team exploring how genes and environmental factors interact in psychiatry has discovered that a history of sexual trauma and a genetic tendency to develop mental illness are associated with increased risk for schizophrenia, bipolar disorder and major depression.

People with myotonic dystrophy type 1 (DM1), the most common adult-onset form of muscular dystrophy, progressively lose muscle mass and strength in their lower legs, hands, neck and face. The effects of the condition extend to the cardiac and central nervous systems and the gastrointestinal organs.

An ancient gene mutation among First Nations inhabitants of Oceania may make them more susceptible to infectious diseases like influenza, according to a new study by scientists at the University of Colorado Anschutz Medical Campus.

Recent years have seen a vast amount of multi-omics data related to brain development emerging, with rapid advancements in neurodevelopmental research and high-throughput technologies. However, the lack of a comprehensive resource integrating these datasets limits researchers' ability to fully uncover the brain's developmental processes and influencing factors in multiple dimensions.

University of Oregon biologists have uncovered a mechanism by which a well-known breast cancer gene also influences fertility. Mutations in the BRCA1 gene sharply increase a person's risk of developing breast cancer, and BRCA1 patients often face fertility challenges beyond the side effects of cancer treatment.

A study by researchers at the National Institutes of Health (NIH) and their collaborators has revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study demonstrated that having just one risk variant in a gene known as APOL1 can significantly increase the risk of developing kidney disease. APOL1 is important for the immune system, and variants of th

Alport syndrome is a genetic disorder associated with kidney dysfunction, sensorineural hearing loss, and ocular abnormalities. In the kidneys, hematuria occurs in the early stages of the disease, followed gradually by proteinuria and, ultimately, end-stage renal failure, which requires renal replacement therapy such as dialysis or kidney transplantation.

University of Alabama at Birmingham researchers have discovered that a genetic risk score can predict how Black individuals with hypertension respond to the blood pressure medication chlorthalidone and their likelihood of developing treatment-resistant hypertension.

Many statistical models and algorithms used by scientists can be imagined as a "black box." These models are powerful tools that give accurate predictions, but their internal workings are not easily interpretable or understood.

IgA nephropathy is an autoimmune kidney disease, and complement, a component of the innate immune system, plays a role in the condition's pathogenesis. Investigators have developed and tested a novel gene therapy that enters kidney cells and enables them to block complement activation. The research was presented at ASN Kidney Week 2024, held October 23–27.

Broad Institute-led research has revealed that deletions in the CHASERR gene cause a distinct neurodevelopmental disorder resulting in severe encephalopathy, cortical atrophy, and cerebral hypomyelination.

Researchers in the lab of Michael Sigal at the Max Delbrück Center and Charité—Universitätsmedizin Berlin have elucidated the role of the p53 gene in ulcerative colitis. The study, published in Science Advances, suggests a potential new drug target to stop disease progression to cancer.

For the first time, scientists have tracked the dispersion of the Oropouche virus in the Brazilian Amazon region, an important first step to control future outbreaks of a disease with more than 100,000 reported cases since the 1960s.

An international team led by researchers at the University of Toronto and the Broad Institute of MIT and Harvard has assembled the first large-scale, publicly available map to show the impact of mutations on where proteins end up in the cell.

Ancient viral remnants in the human genome are activated during pregnancy and after significant bleeding in order to increase blood cell production, an important step toward defining the purpose of "junk DNA" in humans, according to research from Children's Medical Center Research Institute at UT Southwestern (CRI) published in Science.

UCLA scientists have identified the protein GPNMB as a critical regulator in the heart's healing process after a heart attack.

The Clinical Genome Resource (ClinGen), a resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic diseases, including cancer, cardiovascular disease and neurodevelopmental disorders.

A new study conducted on roundworms finds that a common plastic ingredient causes breaks in DNA strands, resulting in egg cells with the wrong number of chromosomes. Monica Colaiácovo of Harvard Medical School led the study, which was published October 24 in the journal PLOS Genetics.

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by most parents who are offered the option. The study has been published in the Oct. 24 issue of JAMA.

A study published in the journal Cell Genomics introduces a new tool called FUSE (Functional Substitution Estimation) that helps scientists better understand how changes in genes affect proteins. Genetic variants can alter how a protein works, potentially leading to diseases. New CRISPR-based experiments can help understand the impact of genetic variants by installing these changes into the DNA of

A single treatment with a CRISPR-Cas9 based gene editing therapy is enough to replace the daily medication of patients with hereditary angioedema (HAE), a condition characterized by severe, painful and sudden onset of swelling, sometimes resulting in death.

Columbia University Medical Center researchers have identified specific variants in a melatonin receptor gene that impair bone turnover, leading to significant reductions in bone density and increased risk of fractures, particularly in Ashkenazi Jewish individuals.

The key to recovering from traumatic nerve injuries, like those sustained in motor vehicle accidents or gunshot wounds, may be a gene named for the land of everlasting youth in Irish folklore.

Scientists from Cleveland Clinic and Cornell University have designed a publicly-available software and web database to break down barriers to identifying key protein-protein interactions to treat with medication.

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder that renders them wheelchair-bound, nonverbal and with profound intellectual delays.

Cedars-Sinai and UCLA investigators have studied first trimester placental tissue and found that for some genes, the process that turns their information into a biological function may depend on the sex of the fetus.

A collaborative study in neuroscience, spearheaded by a research team of the Hong Kong University of Science and Technology (HKUST), sheds light on new possibilities for treating central nervous system (CNS) injuries. Through the discovery of a novel gene that regulates the regeneration of multiple types of CNS axons, researchers have achieved a significant stride towards repairing damaged neural

New research from King's College London has revealed a connection between ancient viral DNA embedded in the human genome and the genetic risk for two major diseases that affect the central nervous system.

Gene-editing therapies—techniques that modify DNA to treat or prevent disease—have the potential to transform the field of drug development. By making precise edits to the genome, problematic genes could be modified or eliminated, representing long-lasting therapies for genetic disorders that currently have no treatment.

The 3 billion base pairs that constitute the human genome—the matching jigsaw puzzle pieces of adenine pairing with thymine and cytosine pairing with guanine—are not just the body's instruction manual. Rearrangements in the order of those base pairs are markers of the origins of disease and of our evolutionary history. They can be simple, when a handful of base pairs switch places. They can also b

As people who research aging like to quip, the best thing you can do to increase how long you live is to pick good parents. After all, it has long been recognized that longer-lived people tend to have longer-lived parents and grandparents, suggesting that genetics influence longevity.

Researchers at the University of California San Diego Center for Epigenomics (C4E) have developed a new technique, called Droplet Hi-C, that allows scientists to rapidly determine chromatin organization, the arrangement of genetic material within cells.

A University of Maryland-led discovery could spur the development of new and improved treatments for Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder with no known cure that causes accelerated aging in children.

A new UC Davis MIND Institute study offers critical insights into Rett syndrome, a rare genetic condition that affects mostly girls. The research reveals how this condition affects males and females differently, with symptoms progression linked to changes in gene responses in brain cells.

Increased risk for autism appears to be linked to the Y chromosome, a Geisinger Health System study has found, offering a new explanation for the greater prevalence of autism in males. The results are published in Nature Communications.

A new study conducted by SISSA's Laboratory of Cerebral Cortex Development and recently published in BMC Biology has led to a surprising revelation about the role of the FOXG1 gene: not only does it orchestrate development of the anterior brain by regulating RNA transcription, but its role includes direct regulation of RNA translation, i.e. protein production.

When trying to understand how genetic influences factor into youth behavior, researchers at Washington University in St. Louis have taken the "big trawl" approach, casting their net wide to pull in all the measured traits, behaviors and environments that make up who we are and examine associations with the genetic building blocks comprising risk for mental health problems.

Nager syndrome, or NS, is a rare genetic disease that affects the development of the face and limbs, usually causing anomalies in the bone structures of the jaws, cheeks, and hands. With a prevalence of less than 100 cases ever reported, not much is known about the disease except the fact that mutations in the SF3B4 gene are its primary cause.

A collaborative effort between investigators at the National Institutes of Health's National Institute of Allergy and Infectious Diseases (NIAID) and Massachusetts General Hospital (MGH) demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic granulomatous disease (X-CGD),

Development of B cells, white blood cells that make antibodies, follows a progression of stages: common lymphoid progenitors, pre-pro-B cells, pro-B cells, pre-B cells, immature B cells, and then more mature and specialized B cells. By the time the development hits the pro-B stage, the cell is fated to stay a B cell rather than another type of cell.

A study published in Molecular Psychiatry is the first to suggest that the use of high-potency cannabis leaves a distinct mark on DNA, providing valuable insights into the biological impact of cannabis use. High-potency cannabis is defined as having Delta-9-tetrahydrocannabinol (THC) content of 10% or more. THC is the principal psychoactive constituent in cannabis.

In the 1980s, scientists knew little about the X and Y chromosomes. What they did understand was that every cell in the body contains 23 pairs of chromosomes. Each of these pairs is similar, except one. While females typically have two X chromosomes, males have one X chromosome and one Y chromosome. But which gene on the Y chromosome causes a developing embryo to become a male had remained an enti

A team of researchers has identified a promising therapy based on antimiRs to treat myotonic dystrophy type 1 (DM1), a complex genetic disorder caused by an abnormally high number of CTG repeats (a specific type of RNA sequence) in the DMPK gene. The results of their research have just been published in Science Advances.

A major international study has found that gout is a chronic illness in which genetics is a major cause, rather than the lifestyle choices of the sufferer.

Gregory and Deborah Macres from California lost their son, Gregory, in 1997, when he was just 4 years old. Little Gregory had a severe form of a rare genetic disorder called Gaucher disease and died after unsuccessful experimental treatment.

The human brain's remarkably prolonged development is unique among mammals and is thought to contribute to our advanced learning abilities. Disruptions in this process may explain certain neurodevelopmental diseases.

Research led by scientists at Queen Mary University of London is signaling a new era for genetic sequencing and testing. In the largest study of its kind to date, published today in Nature Medicine, an international group of researchers led by Queen Mary used new bioinformatics techniques to scan the genetic profiles of 80,000 people to understand the frequency of specific expansions of short repe

Weill Cornell Medicine investigators have found that two genetic variants that confer high risk of Alzheimer's disease (AD) together trigger a harmful inflammatory response in the brain's immune cells, particularly in females, in a preclinical model.

Promising new inroads into critical DNA testing has been forecast by Flinders University experts who have applied machine learning to DNA profiling.

Researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases. The study, published in Genomic Psychiatry, details a homozygous mutation in the SPAG9 gene that leads to a complex neurological phenotype characterized by intellectual disability, speech delays, and progressive cognitive decl

A team of researchers from the Chinese Academy of Sciences has uncovered compelling evidence of a genetic link between bipolar disorder type I (BD-I) and epilepsy, potentially transforming our understanding of these complex neuropsychiatric conditions.

Physician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have new insights into the role of genetic risk scores in guiding treatment for hypertension, or high blood pressure.

An innovative analysis of shared segments within the genome—an indication of distant "relatedness"—has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms, fainting and sudden cardiac death.

A study conducted by a research team from Kumamoto University has shed light on the critical role of a tRNA methylation enzyme, TRMT10A, in supporting brain function. The findings reveal how the absence of TRMT10A leads to a reduction in specific transfer RNA (tRNA) levels, disrupting protein synthesis in the brain and impairing synaptic structure and function.

Researchers with McMaster University have discovered that the protein mutated in patients with Huntington disease doesn't repair DNA as intended, impacting the ability of brain cells to heal themselves.

Centrosomes are small structures in cells with many essential functions, including roles in cell signaling and in organizing a cell's cytoskeleton. Centrosome dysfunction contributes to diseases like cancer and congenital developmental disorders—for which understanding what regulates centrosome function is key.

Important new updates to the largest open database for polygenic scores, the Polygenic Score (PGS) Catalog, could help to generate more equitable disease risk predictions for a diverse range of ethnic backgrounds.

A team of researchers from the University of Barcelona and the Centre for Biomedical Research in the Mental Health Network (CIBERSAM) has published a study that reveals significant findings in the field of genetic psychiatry from the perspective of separate gender analysis.

Scientists at the Victor Chang Cardiac Research Institute, working with colleagues at the Vanderbilt University Medical Center, have developed a world-first, individualized risk prediction tool for people suffering from a type of heart arrhythmia that can cause sudden cardiac arrest.

Researchers at the Francis Crick Institute have shown that the balance of bacteria in the gut can influence symptoms of hypopituitarism in mice. They also showed that aspirin was able to improve hormone deficiency symptoms in mice with this condition.

A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The research has been published in Cell Reports Medicine.

Scientists at the National Institutes of Health (NIH) and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye's light-sensing retina and threaten vision.

A first-of-its kind study by researchers at University of California San Diego has revealed that Gulf War illness (GWI), a chronic fatigue illness affecting veterans of the 1990-1991 Gulf War, is linked to genetic variants in mitochondria, the energy-producing structures of cells. The findings shed new light on how GWI, which is thought to be triggered by environmental toxins, develops. The findin

Researchers at the Johns Hopkins University School of Medicine have mapped variation in human stem cells that explains how cells of an individual may shape a unique "developmental dance" at the molecular level, thereby controlling how the brain and body are created. The findings further our understanding of the origins and implications of cellular variation in people and may advance the design of

Individuals who display exceptional longevity provide evidence that humans can live longer, healthier lives. Centenarians (greater than 100 years of age) provide a unique lens through which to study longevity and healthy aging, as they have the capacity to delay or escape aging-related diseases such as cancer, cardiovascular disease and Alzheimer's disease, while markedly avoiding disability. Prob

A recent study published in Nature Communications by researchers at Karolinska Institutet offers new insights into the development of ovarian follicles, which are vital for female fertility as they contain oocytes.

Certain developmental signals shape not only the human embryo but also play a significant role in maintaining our genetic blueprints. They prevent alterations in the genome, known as mosaicism.

People with Down syndrome face a higher risk of developing leukemia. Now researchers from the University of Copenhagen and Stanford University explain why, by identifying specific changes in blood cells of people with Down syndrome.

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the population, the influence on the presentation of certain pathological traits has so far been difficult to determine.

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the CSF1R gene, discovered by Mayo Clinic. Memory loss occurs as the condition advances, while early symptoms include personality changes, anxiety, depression and loss of inhibition. Genetic testing has become more widely available, but there is no cure for the disorder.

A team at the Hübner and Diecke Labs at the Max Delbrück Center has shown how human and non-human primate hearts differ genetically. The study, published in Nature Cardiovascular Research, reveals evolutionary adaptations in human hearts and provides new insights into cardiac disease.

Scientists are calling for human genomic research to be vastly expanded and widened to include many more people so it can fully deliver on its promise of becoming a tool for improved health care for all of humanity.

A UNIGE team has discovered the genetic programs that allow motor neurons to retract from the spinal cord. This discovery opens up prospects for combating neurodegeneration.

Researchers at the Icahn School of Medicine at Mount Sinai have published a study in Nature Genetics that sheds light on a novel genetic variant associated with intellectual capacities and educational outcomes. This discovery offers new insights into intellectual disability diagnostics and potential therapeutic avenues.

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. They found that most undiagnosed cases that are due to recessive causes are linked to genes we already know about, and suggest a shift in research focus could improve diagnosis rates.

Investigators from the Yale Department of Psychiatry investigated the genetic profiles of more than 1 million participants enrolled in multiple cohorts around the world. Leveraging this large dataset, they uncovered more than 100 genes associated with anxiety.

Fussy eating is mainly influenced by genes and is a stable trait lasting from toddlerhood to early adolescence, finds a new study led by researchers from UCL (University College London), King's College London and the University of Leeds.

Important insights into the mechanisms behind Fuchs endothelial corneal dystrophy (FECD), a common cause of age-related visual loss, have been revealed in a new study led by UCL researchers.

A new international study provides a shortlist of the wildlife species present at the market from which SARS-CoV-2, the virus responsible for the COVID-19 pandemic, most likely arose in late 2019.

More than a decade ago, physicians around the world began reporting cases due to a new hypervirulent strain of Klebsiella pneumoniae, which could infect and severely sicken otherwise healthy people.

The accessibility of at-home DNA testing means that practically anyone can send away for a kit and learn about their family history, genetic ancestry and medical information. But some people get more information than they bargained for.

New therapeutic opportunities often emerge from research on simple organisms. For instance, the 2020 Nobel Prize in Chemistry awarded to Emmanuelle Charpentier, Ph.D., and Jennifer Doudna, Ph.D., for their CRISPR-based DNA editing discovery began with studies using bacteria just a decade prior. Today, CRISPR therapies are approved for several disorders, and more such treatments are in the offing.

The type 1 ryanodine receptor (RyR1) is an important calcium release channel in skeletal muscles essential for muscle contraction. It mediates calcium release from the sarcoplasmic reticulum, a calcium-storing organelle in muscle cells, a process vital for muscle function.

A study has uncovered novel ancestry-specific genetic variants linked to multiple sclerosis (MS), offering new insights that could reshape treatment approaches for diverse populations affected by the disease. The research, presented today at European Committee for Treatment and Research in Multiple Sclerosis 2024, is the result of efforts by the Alliance for Research in Hispanic MS (ARHMS) Consort

The accumulation of mutations in DNA is often mentioned as an explanation for the aging process, but it remains just one hypothesis among many. A team from the University of Geneva (UNIGE), in collaboration with the Inselspital, University Hospital of Bern and the University of Bern (UNIBE), has identified a mechanism that explains why certain organs, such as the liver, age more rapidly than other

Researchers at Karolinska Institutet and AstraZeneca have discovered that gene expression in adipose stem cells varies according to sex and type of adipose tissue in mice.

Researchers have found a gene variant that almost completely protects 1 in 8 newborn babies from jaundice. The research, conducted at the University of Gothenburg in Sweden, provides the opportunity to develop a treatment that can prevent severe cases.

Removing a specific gene from fat tissue could fool the body into speeding up metabolism and burning more calories, a new study has found.

People with rare genetic variants linked to degenerative brain disorders like Parkinson's disease are at increased risk of developing ALS, a new study finds.

The discovery of a new blood group, MAL, has solved a 50-year-old mystery. Researchers from NHS Blood and Transplant (Bristol), NHSBT's International Blood Group Reference Laboratory (IBGRL) and the University of Bristol identified the genetic background of the previously known but mysterious AnWj blood group antigen. The findings allow identification and treatment of rare patients lacking this bl

Researchers from the Kind Group have gained new insights into the mechanism behind the spatial organization of DNA within the cells of early embryos. When an embryo is first formed after fertilization, each cell has the potential to become any cell type of the body.

Mount Sinai researchers have identified a key driver of a blood vessel disorder known as fibromuscular dysplasia (FMD) which affects up to 5% of the adult population and can lead to high blood pressure, heart attack, or stroke.

A new study describes the use of artificial intelligence (AI) in designing a new generation of capsids, the structures that envelop genetic material of adeno-associated viruses (AAV), to improve gene therapies for muscle diseases.

Your DNA has long been known to play a role in shaping your personality. Now, researchers at Yale School of Medicine (YSM) have taken another step in determining exactly how by identifying a number of new genetic sites associated with specific personality traits. They published their findings in Nature Human Behaviour.

Researchers developed a method for mutating neurodevelopmental and psychiatric disorders (NPD) risk genes in human stem cells at large scale. In the modified cells, a selected NPD risk gene is mutated so that it no longer makes a functional protein. The modified stem cells can subsequently be turned into neurons and other brain cells to model the consequences of risk gene mutations in a simplified

National Institutes of Health (NIH) researchers and collaborators have found that being a carrier for sickle cell disease, known as having sickle cell trait, increases the risk of blood clots, a risk that is the same among diverse human populations that may not traditionally be associated with sickle cell disease.

A protein called torsinA plays a key role in the early development of neurons, determining where nuclear pores are placed in the membrane that encloses the nucleus of nerve cells, a study led by UT Southwestern Medical Center researchers shows.

New research has found four genes with some of the largest known effects on the timing of menopause discovered to date, providing new insight into links between menopause timing and cancer risk.

Researchers have for the first time identified degeneration-associated "molecular markers"—observable changes in cells and their gene-regulating networks—that are shared by several forms of dementia that affect different regions of the brain.

A team led by UNC School of Medicine researchers is the first to confirm that a small molecule called miR-29 plays a role in driving aging. Their new findings are published in Communications Biology.

Polycystic kidney disease (PKD) is an intractable disorder that causes fluid-filled cysts to grow in the kidneys. It is typically seen in adults. As one of the most prevalent hereditary kidney diseases, the autosomal dominant form of PKD is usually caused by mutations in the PKD1 and PKD2 genes.

When they become fathers, men who have an unhealthy, high-cholesterol diet can cause increased risk of cardiovascular disease, or CVD, in their daughters, a University of California, Riverside-led mouse study has found.

Scientists have shed new light on the genetic basis of dyslexia, showing how it overlaps with that of attention deficit hyperactivity disorder (ADHD).

Bothnia dystrophy is a form of hereditary blindness, prevalent in the region Västerbotten in Sweden. A new study at Karolinska Institutet published in Nature Communications shows that gene therapy can improve vision in patients with the disease.

In the complex landscape of mental health research, a new viewpoint offers a critical examination of how genes and environment conspire to influence schizophrenia risk. Published in Genomic Psychiatry, this analysis by researchers Natassia Robinson and Sarah E. Bergen from Karolinska Institutet in Stockholm, Sweden, brings together findings from genetics and epidemiology.

Scientists at St. Jude Children's Research Hospital have used cryo-electron microscopy to generate ten structures of URAT1, a protein linked to gout. Gout is a type of arthritis caused by excess urate levels, a byproduct of purine metabolism. URAT1 is a transporter that regulates urate levels, controlling its reabsorption in the kidneys.

In the complex landscape of mental health research, a new viewpoint review sheds light on an underexplored genetic player: the trace amine-associated receptor 1 (TAAR1). Published in Genomic Psychiatry, this analysis suggests that mutations in the TAAR1 gene may be a crucial piece of the puzzle in understanding and treating neuropsychiatric disorders.

Researchers from Children's Hospital of Philadelphia (CHOP) have tested a preclinical model for an experimental gene therapy designed to treat multiple sulfatase deficiency (MSD), a disorder that affects the brain, lungs, skin, and skeleton with no currently approved treatments. The findings demonstrated several improvements in outcomes, paving the way for future translation into clinical trials.

Cryptorchidism is a common congenital abnormality in male newborns. Studies have found that cryptorchidism is associated with a high prevalence of male infertility, with nearly 10% of men with fertility problems having a history of cryptorchidism. However, the pathogenesis of cryptorchidism that leads to male infertility in adulthood has yet to be fully understood.

A research team from Hiroshima University has developed an analysis pipeline to identify unexploited genes for a given disease against five databases that provide gene-disease associations. They used their pipeline to study oxidative stress and its related disease, Parkinson's disease, as a case study.

Researchers at UC San Francisco are getting closer to being able to predict sudden infant death syndrome, or SIDS.

Scientists from Trinity College Dublin have developed a highly promising gene therapy to treat glaucoma, a debilitating eye condition that can lead to complete vision loss, and which affects around 80 million people worldwide. The team had previously shown that their therapy offered promise in treating dry age-related macular degeneration (AMD).

The vision of people with a rare inherited condition that causes them to lose much of their sight early in childhood was 100 times better after they received gene therapy to address the genetic mutation causing it. Some patients even experienced a 10,000-fold improvement in their vision after receiving the highest dose of the therapy, according to researchers from the Perelman School of Medicine a

Understanding the mechanisms behind cell death and survival is crucial when it comes to conditions like heart failure, which affects millions of people worldwide. Now, researchers from Japan have identified a mechanism which protects cardiac myocytes against ischemia, or a lack of blood supply.

Genetic predisposition to high ferritin and serum iron status is associated with a lower risk of developing rheumatoid arthritis (RA), according to a study published online Aug. 29 in Global Medical Genetics.

A study published in Nature Communications provides new insight into how damaged cells interact within disease-promoting microenvironments following acute kidney injury, or AKI. With limited treatment options, AKI frequently progresses to chronic kidney disease (CKD), which affects more than 1 in 7 U.S. adults—an estimated 37 million people.

A recent study published in Frontiers in Genetics demonstrates that combining copy number variants sequencing (CNVs-seq) and whole exome sequencing (WES) is effective in detecting congenital heart disease (CHD). CHDs are the most prevalent birth defects and a leading cause of newborn mortality, often linked to pathogenic copy number variations (pCNVs).

The cost of whole-genome sequencing is approaching that of the traditional genetic tests currently used for patients diagnosed with acute leukemia, according to a new study published in the Journal of Medical Economics.

From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of Bonn have now identified causative mutations in another keratin gene, KRT31. They hope that this will improve the diagnosis of this rare disease.

Resting brain stem cells hardly differ from normal astrocytes, which support the nerve cells in the brain. How can almost identical cells perform such different functions? The key lies in the methylation of their genetic material, which endows these special astrocytes with stem cell properties.

"Parasite" DNA sequences have three potential functions in the development of T (for thymus) lymphocytes, researchers led by Université de Montréal medical professor Claude Perreault show in a study published in the journal eLife.

A team of researchers has developed a radical new technique for analyzing evidence in sexual assault cases. The new approach could streamline the forensics pipeline and reduce delays in the processing of DNA evidence.

Gene regulation in our cells—the decision on which proteins are produced for the various processes of the cell—is strictly regulated. It has long been assumed that this regulation deteriorates with age. But until now, it has been unclear how exactly the regulation of individual processes, and above all, the coordination between the processes changes.

In a comprehensive review of recent genetic studies, researchers have identified a hidden layer of complexity in how our genes function, shedding new light on the biological underpinnings of major psychiatric disorders. The study published in Genomic Psychiatry reveals that a process called alternative polyadenylation (APA)—which affects how genes are expressed—may be a crucial factor in determini

New research from a team in China has uncovered a novel variant in the MYO1D gene that is linked to laterality defects, congenital heart diseases, and sperm defects in humans. Laterality defects involve the abnormal positioning of internal organs and can lead to various health complications. Congenital heart diseases affect the structure and function of the heart and are the most prevalent type of

Like many good detectives, Duke-NUS Integrated Biology and Medicine Ph.D. Program candidate Allyson Choi was undaunted when she was handed a decades-old cold case: a 1970s outbreak of dengue in the South Pacific.

Aging is known to have profound effects on the human brain, prompting changes in the composition of cells and the expression of genes, while also altering aspects of the interaction between genes and environmental factors. While past neuroscience studies have pinpointed many of the molecular changes associated with aging, the age-related genetic factors influencing specific neuron populations rema

Researchers at the Centre for Genomic Regulation (CRG) have discovered hundreds of potential new cancer driver genes. The findings, published in the journal Nature Communications, significantly expands the list of possible therapeutic targets to monitor and tackle the disease.

In a review article, researchers have uncovered compelling evidence that long noncoding RNAs—molecules once dismissed as "junk DNA"—may hold the key to revolutionizing how we diagnose and treat mood disorders.

Genetic variants linked to a rare form of bicuspid aortic valve disease that affects young adults and can lead to dangerous and potentially life-threatening aortic complications have been identified by researchers at UTHealth Houston.

Scientists have revealed new insights into the mechanisms behind cerebral small vessel disease, a condition that affects the smaller blood vessels in the brain and causes approximately half of all dementia cases.

Researchers from Karolinska Institutet and Maastricht University have developed a technique that enables the examination of embryos for all known genetic abnormalities with a single test. The new method is more accurate and faster than existing techniques, increasing the chance of a healthy child for parents at increased risk of inherited conditions.

Synapses are junctions via which neurons communicate with each other or with other types of cells. Synapses are formed throughout the course of a person's life, yet their strength and numbers change over time, a phenomenon known as synaptic plasticity.

An article in the journal Human Gene Therapy describes the consensus reached by invited experts who participated in a meeting to evaluate the potential carcinogenicity of gene therapies.

In a study recently published in Alzheimer's & Dementia, researchers at Karolinska Institutet and Shandong Provincial University have reported the polygenic risk scores (PRS) with and without apolipoprotein E (APOE) gene that were associated both cross-sectionally and longitudinally with around double risk of Alzheimer's disease. Moreover, the PRS, in combination with age, sex, and education, show

Columbia University researchers have discovered how variants of the ABCA7 gene, which are common among Black Americans, increase the risk for Alzheimer's disease. The paper is published in the journal Cell Genomics.

New research by the National Neuroscience Institute (NNI) of Singapore has identified for the first time how gene variations cause changes in the brain that are linked to essential tremor—a common condition that causes uncontrollable shaking of the hands, such as when writing or holding items.

Tourists visiting an unfamiliar city would have a hard time finding their way around if they were using nothing but a topological map, no matter how detailed. Most tourist maps, therefore, highlight sights of interest and prominent landmarks.

For decades, scientists have dreamed of a future where genetic diseases, such as the blood clotting disorder hemophilia, could be a thing of the past. Gene therapy, the idea of fixing faulty genes with healthy ones, has held immense promise. But a major hurdle has been finding a safe and efficient way to deliver those genes.

A multi-university research team co-led by University of Virginia engineering professor Gustavo K. Rohde has developed a system that can spot genetic markers of autism in brain images with 89 to 95% accuracy.

Recent research suggests that epigenetic markers in the blood could be useful for understanding dementia risk. Two linked papers from the University of Exeter and Maastricht University have together progressed research to show the potential for DNA methylation, an epigenetic marker, in understanding how genetics and lifestyle factors influence dementia risk.

An international research group led by the Centenary Institute has developed a new genetic risk prediction tool to identify heavy drinkers most at risk of developing alcohol-associated cirrhosis, a severe form of liver disease.

More people in the UK are at risk of a hereditary form of cardiac amyloidosis, a potentially fatal heart condition, than previously thought, according to a new study led by researchers at UCL (University College London) and Queen Mary University of London.

The most comprehensive map of the human endometrium, the inner lining of the uterus, has been created, uncovering diverse cell types and detailing the dynamic changes these go through during the menstrual cycle.

Shortly after Kelly Cervantes's daughter Adelaide was born, she started having terrible seizures. Doctors were unable to give her a solution, or even a cause.

A new research perspective was published in Aging, titled "Trioxidized cysteine and aging: a molecular binomial that extends far beyond classical proteinopathic paradigms."

In a study appearing in Protein & Cell researchers investigated the physiological functions of Terc-53 by creating transgenic mice that overexpress this noncoding RNA. They observe that Terc-53 overexpression affects normal aging in mammals, contributing to cognitive decline and shortened lifespan.

Scientists have identified a sequence variant in the CCDC201 gene that, when inherited from both parents homozygous, causes menopause on average nine years earlier.

Eating well, exercising and attending regular doctor appointments can support a long healthy life, but a new study identified one possible factor beyond our control: whether you had a grandparent who went to college.

Myofibroblasts generate fibrotic scars after spinal cord injury (SCI). This is typically regarded as an impediment to nerve regeneration. Understanding the heterogeneous characteristics of fibrotic scars might help to develop strategies for remodeling fibrotic scars after SCI. However, the composition, origin and function of fibrotic scars have been a subject of ongoing debate in the field.

One particular protein lies at the heart of brain development. A master regulator of gene expression, it's abundantly present in neurons, and its dysfunction underlies Rett syndrome, a neurological disorder that could lead to severe cognitive, motor, and communication impairments in young girls.

Many couples struggle with infertility. Contrary to popular belief, men are just as often the cause of an unfulfilled desire for children as women—and genetics play a significant role in this. Researchers from the Institute of Reproductive Genetics at the University of Münster have now provided new insights on this topic.

A gene called ZNRF3, known to be involved in cancer, also messes with the mind. The human brain relies on two copies of this gene to build a correctly sized brain. If one of the copies is defective, the brain will be either too small or too large—known as mirror effect—leading to various neurological symptoms.

Certain changes in the genetic material of pathogens can alter their ability to infect human cells or protect them better from defense by the immune system. Researchers were able to observe this effect particularly impressively in the SARS-CoV-2 virus.

In a recent online publication in Science China Life Sciences, researchers from the laboratory of Leng-Siew Yeap at the Shanghai Institute of Immunology, Shanghai Jiao Tong University School of Medicine published a review article entitled "Molecular Mechanisms of DNA Lesion and Repair During Antibody Somatic Hypermutation."

For the first time, researchers have implicated the gene CHCHD2 in Huntington's disease (HD)—an incurable genetic neurodegenerative disorder—and identified the gene as a potentially new therapeutic target. In a brain organoid model of the disease, the researchers found that mutations in the Huntington gene HTT also affect CHCHD2, which is involved in maintaining the normal function of mitochondria

How old are you, really? Your chronological age is the number of years you have been alive. Your biological age is how old your cells are, which scientists believe may better assess one's age-related health and disease risk.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that is incurable. The disease is characterized by the selective degeneration of upper motor neurons in the motor cortex as well as the lower motor neurons in the brainstem and spinal cord.

Kumamoto University researchers have made a discovery that sheds light on how the HMGA2 gene—an essential transcriptional activator involved in chromatin modification—regulates stress responses in hematopoietic stem cells (HSCs), thereby enhancing blood cell production recovery.

A computational model built by researchers at the Institute of Research in Biomedicine (IRB Barcelona) and the Centre for Genomic Regulation (CRG) can predict which drugs will be most effective in treating diseases caused by mutations that can bring protein synthesis to a halt, resulting in unfinished proteins.