All articles tagged: Genetics

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.

Researchers from Michigan State University and Corewell Health, in collaboration with the Cleveland Clinic, have made a significant breakthrough in understanding post-COVID-19 lung complications.

The immune system is tightly regulated to ensure that it only responds to actual health threats, instead of attacking our own bodies, which happens in cases of autoimmunity. Now, researchers from Japan report a new protein–protein interaction that could account for some autoimmune conditions and suggest new avenues for treatment.

Researchers have developed a new genomic technique that can track the spread of multiple superbugs in a hospital simultaneously, which could help prevent and manage common hospital infections quicker and more effectively than ever before.

A newly discovered code within DNA—coined "spatial grammar"—holds a key to understanding how gene activity is encoded in the human genome.

A new textbook provides an overview on the present understanding of aging—from the basic biology of aging to age-related diseases and to the role of lifestyle and the environment. The textbook "Aging: How Science Works," is based on Professor Carsten Carlberg's popular lectures at the University of Eastern Finland, with Professor Stine Ulven and Dr. Eunike Velleuer as co-authors.

Researchers at Weill Cornell Medicine and the epigenetics company TruDiagnostic have uncovered DNA markers associated with retroelements, remnants of ancient viral genetic material in our genes that act as highly accurate epigenetic clocks predicting chronological age. The results support the idea that certain retroelements in the human genome may be involved in aging.

More than 70 genes have been linked to autism spectrum disorder (ASD), a developmental condition in which differences in the brain lead to a host of altered behaviors, including issues with language, social communication, hyperactivity, and repetitive movements. Scientists are attempting to tease out those specific associations gene by gene, neuron by neuron.

Researchers have identified a drug already used for cancer patients, that, when applied to current gene therapy protocols can improve blood stem cell function threefold.

A new study by the University of Eastern Finland and partners identified new genetic variants associated with normal pressure hydrocephalus (NPH). Published in Neurology, the study is the first large-scale genome-wide association study related to NPH in the world.

Boy or girl? It's not always as simple as that. Internationally renowned researcher into differences of sex development (DSDs), Professor Vincent Harley, introduces the topic and answers your questions—separating fact from fiction.

Physician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have unveiled critical insights into the influence of high-proportion spliced-in titin truncating variants, or hiPSI TTNtv, on cardiovascular disease risk.

Scientists at deCODE genetics, a subsidiary of AMGEN, have discovered rare sequence variants, predicted to cause a loss of function of ITSN1, that are associated with a high risk of Parkinson's disease. The findings also support less studied pathways involved in the pathogenesis of the disease.

An international team of scientists including researchers from The Australian National University (ANU) have identified a rare, mutated version of a protein called TNIP1 that causes a chronic autoimmune disease similar to Sjogren's Syndrome—a condition that leads to extreme dryness of the eyes and mouth that can cause blindness if left untreated.

Researchers at The Jackson Laboratory (JAX) have unveiled a new approach to drug discovery that could revolutionize how we understand and treat diseases. Their commentary in the Aug.14 issue of Nature Biotechnology explains the limitations of studies using traditional mouse models and proposes using genetically diverse mice and mouse and human cells to better predict human responses to drugs and d

National Institutes of Health (NIH) researchers have discovered that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.

In research reported in Nature Genetics, Professor Sir Mark Caulfield with Dr. Sinan Shi and Professor Simon Myers, both from Statistics at the University of Oxford, used records from over 78,000 individuals in the Genomics England (GEL) dataset with whole genome sequences to build a new reference panel with 342 million autosomal variants, and which contained a diverse ethnic representation.

In the most comprehensive study of its kind, researchers from the Keck School of Medicine of USC compared epigenetic changes across the genome in young adults who vaped, smoked or did not use nicotine products, finding a tumor-suppressor gene among the top affected genes in vapers and smokers.

Rare genetic changes that are spontaneous—and not inherited from parents—may contribute to the underpinnings of attention-deficit/hyperactivity disorder (ADHD), according to a new study from Yale School of Medicine.

Certain genetic variants that have previously been linked to the lung disease COPD can explain reduced lung function already in children and adolescents, according to researchers at Karolinska Institutet. The results are presented in the journal eClinicalMedicine.

Patients with a common heart arrhythmia called atrial fibrillation could benefit from future treatments that target inefficiencies in heart cell metabolism, a new paper has found.

A Yale School of Medicine team reports in a new study that an artificial intelligence (AI) model was able to reliably diagnose people living with Marfan syndrome from a simple facial photograph.

Amazonians are as genetically different from Andeans as Europeans are from East Asians when it comes to genetic variants that affect the response to certain drugs, according to a commentary published August 8 in the journal Cell.

Gene therapy could potentially cure genetic diseases, but it remains a challenge to package and deliver new genes to specific cells safely and effectively. Existing methods of engineering one of the most commonly used gene-delivery vehicles, adeno-associated viruses (AAV), are often slow and inefficient.

The ability to alter or prevent the expression of faulty genes in the brain could be leveraged as a powerful therapeutic against neurodegenerative disease. However, the molecular underpinnings of the living brain are still largely inaccessible, hampering progress on such promising therapeutics.

A new study published in Nature Communications by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports a significant breakthrough.

Findings from a study published in Nature Medicine show that donor-derived cell-free DNA (dd-cfDNA), also called liquid biopsy, has the potential for early detection of kidney transplant rejection.

Mom always said, "Choose your friends wisely." Now a study led by a Rutgers Health professor shows that she was onto something: Their traits can rub off on you—especially ones that are in their genes.

Researchers led by the University of California, Irvine have discovered how the TREM2 R47H genetic mutation causes certain brain areas to develop abnormal protein clumps, called beta-amyloid plaques, associated with late-onset Alzheimer's disease. Leveraging single-cell Merfish spatial transcriptomics technology, the team was able to profile the effects of the mutation across multiple cortical and

Fish oil supplements are a multi-billion dollar industry in the U.S. and abroad, with about 2 out of every 25 people popping the popular omega-3 pills.

Patrick Sullivan, MD, FRANZCP, the Yeargan Distinguished Professor of Psychiatry and Genetics at the UNC School of Medicine, and researchers at the Karolinska Institutet in Stockholm, Sweden, have developed a comprehensive outline of the genetics of schizophrenia. Their review is published in Nature Reviews Neuroscience.

Xiaofeng Zhu, professor in the Department of Population and Quantitative Health Sciences at the School of Medicine, has led research to screen for interactions across the genome. The team has empirically demonstrated that interaction and mediation are the major contributors to genetic effect size heterogeneity across populations.

Innovative new research has revealed that the activity of different versions of genes expressed in the brain is associated with the accumulation of the protein tau, which is a hallmark of Alzheimer's disease.

People with a BRCA1 gene mutation, which increases breast and ovarian cancer risk, are also at increased risk of impaired fertility, Monash University-led research has confirmed in preclinical models and human tissue samples.

Diagnosing the genetic cause of a disease can aid in finding therapies and directing treatment, but often these diagnoses occur long after the disease has impacted a patient's life. In a new study, researchers from Children's Hospital of Philadelphia (CHOP) used machine learning and artificial intelligence to comb through medical records and use clinical notes to match symptoms with specific genet

Researchers at London Health Sciences Centre (LHSC) and Lawson Health Research Institute are using advanced technology and artificial intelligence (AI) to diagnose rare diseases and prenatal exposure-related birth abnormalities in two studies published today, one study in American Journal of Human Genetics and the other in Genetics in Medicine.

Research on the genetics of obesity dates to the early 1920s, with many of the initial findings indicating the complexity and multifaceted nature of obesity perfectly resonating with more modern discoveries. Researchers at Pennington Biomedical have collected nearly a century's worth of considerations and advancements to frame their perspectives on modern research into the genetics of obesity.

Though it is exceedingly rare, some people diagnosed with amyotrophic lateral sclerosis (ALS) partially or fully recover from the lethal neurodegenerative disease.

Before the advent of extensive research, Alzheimer's disease was only confidently diagnosed postmortem when medical professionals could observe physical changes in the brain associated with the disease, such as the appearance of protein plaques and neurological tangles, under a microscope.

Investigators in the Parkinson's Foundation-backed PD GENEration study—which reached its goal of 15,000 participants ahead of schedule this spring—found that 13% of participants have a genetic form of Parkinson's disease (PD), which is a significant observation compared to long-standing estimates. Results from the first 3.5 years of the study, which examined a broad North American cohort, were pub

We normally associate our age with the year we are born. However, what if your age could be better associated with other factors like health, diet, exercise, occupation and education level?

Losing someone close, like a family member, can make you age faster, says a new study from Columbia University Mailman School of Public Health and the Butler Columbia Aging Center.

About 37 million people in the United States have chronic kidney disease and studies show that genetics may explain between 10% and 20% of cases in adults (and as many as 70% of cases in children).

Free genetic testing, offered partially or fully subsidized by industry, may have trade-offs, and health systems in Canada must carefully weigh potential clinical, ethical, and legal considerations to protect patient data, authors argue in a Canadian Medical Association Journal commentary.

A study published in Nature Genetics by the Lymphoid Development Group at the MRC Laboratory of Medical Sciences reveals that the contribution of cells expressing maternal or paternal X chromosomes can be selectively skewed in different parts of the body.

Non-alcoholic fatty liver disease (NAFLD) has emerged as a leading cause of chronic liver disease worldwide, affecting approximately 38% of the global population from 2016 to 2019. NAFLD is characterized by the accumulation of fat in at least 5% of hepatocytes, and its severity ranges from simple steatosis to nonalcoholic steatohepatitis (NASH), which can further progress to liver fibrosis (LF) an

When we form a new memory, the brain undergoes physical and functional changes known collectively as a "memory trace." A memory trace represents the specific patterns of activity and structural modifications of neurons that occur when a memory is formed and later recalled.

Researchers from North Carolina State University have developed an array that assesses methylation levels of genes located in imprint control regions (ICRs) within the human genome. The array represents a cost-effective, efficient method for exploring potential links between environmental exposures and epigenetic dysregulation during the early developmental origins of diseases and behavioral disor

Millions of adults have atrial fibrillation—an irregular beating of the upper chambers of the heart that yields increased risk of heart failure, stroke and death. Many genetic mutations in the developing fetus can lead to adult atrial fibrillation, including mutations that shorten the massive protein titin in cardiac muscle cells.

Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments for people with Duchenne muscular dystrophy (DMD).

Researchers at Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania revealed the most extensive single cell atlas of the human kidney, capturing the complexity of healthy and diseased kidneys at an unprecedented level and predicting chronic kidney disease (CKD) progression earlier in its course.

New research led by UCLA Health has found that specific genes may be related to the trajectory of recovery for stroke survivors, providing insights useful to doctors developing targeted therapies.

Scientists have uncovered that "gene misbehavior"—where genes are active when they were expected to be switched off—is a surprisingly common phenomenon in the healthy human population.

A new research paper titled "Prevalence and impact of the KIT M541L variant in patients with mastocytosis" has been published in Oncotarget.

Whether or not a person becomes seriously ill with COVID-19 depends, among other things, on genetic factors. With this in mind, researchers from the University Hospital Bonn (UKB) and the University of Bonn, in cooperation with other research teams from Germany, the Netherlands, Spain and Italy, investigated a particularly large group of affected individuals.

Researchers at Simon Fraser University, in collaboration with a group from Baylor College of Medicine in Texas, have identified a gene that appears to reverse Parkinson's disease symptoms in fruit flies.

A new and freely available Human Gut Microbiome Atlas could help researchers and health care professionals around the world better understand how microorganisms in the gut impact disease, leading to more effective treatment.

As a species, humans like to think that we are fully in control of our decisions and behavior. But just below the surface, forces beyond our conscious control influence how we think and behave: our genes.

A new study by scientists at deCODE Genetics shows that sequence variants drive the correlation between DNA methylation and gene expression. The same variants are linked to various diseases and other human traits.

Chronological age reveals the number of years an individual has lived since birth. By contrast, biological age varies between individuals of the same chronological age at a rate reflective of physiological decline.

The protein tau is essential to the function of cells in the brain and central nervous system, but when over-produced under certain conditions, it forms tangles that clog the cells' internal structures. These tangles have also been found in Alzheimer's disease patients.

Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others endure more than six years of tests before a diagnosis is given.

A new preclinical model offers a unique platform for studying the Parkinson's disease process and suggests a relatively easy method for detecting the disease in people, according to a new study led by Weill Cornell Medicine researchers.

Parkinson's disease is the world's fastest growing neurological condition. Currently there are no drugs or therapies that slow or stop the progression of the disease.

In Huntington's disease, the mutant huntingtin gene (HTT) mRNA is retained in the nucleus and forms insoluble clusters. A new study shows that short interfering RNA (siRNA), an oligonucleotide therapeutic strategy that reduces levels of huntingtin mRNA in the cytoplasm, does not lower mutant HTT mRNA expression in the nucleus of mouse brains.

The Association for Molecular Pathology (AMP) has published consensus recommendations to aid in the design and validation of clinical DPYD genotyping assays, promote standardization of testing across different laboratories, and improve patient care.

People who experience an arterial ischemic stroke (AIS) or transient ischemic stroke (TIA) are at an increased risk of suffering a second stroke or other major adverse cardiovascular event (MACE), making it critically important to identify risk factors and treatments to prevent these subsequent occurrences.

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine of the University of Pennsylvania (Penn Medicine) developed data designed to improve the diagnosis for Alagille syndrome, a complex inherited liver disorder. These findings will help to reduce the Variant of Uncertain Significance (VOUS) classification for missense variants, protein-altering genetic cha

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example, by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material (DNA) that code for proteins. As part of a Germany-wide multicenter study, ES data was collected from 1,577 patients and systema

A multinational European study provides the first comprehensive clinical and genomic data on the Mycobacterium avium complex from continental Europe. The data reveal the population structure of this group of pathogens and indicate that plasmids play a significant role in their evolution and might contribute to resistance and virulence of these bacteria.

Northwestern Medicine scientists have uncovered molecular mechanisms underlying lymphatic valve development, a discovery which could prove useful in treating lymphedema, according to a study published in the Journal of Clinical Investigation.

A new study shows that subretinal adeno-associated virus 8 (AAV8) injections cause proinflammatory T-cell immune response against the transgene product. According to the study, published in the journal Human Gene Therapy, co-injection of immunodominant peptides from the transgene product, along with AAV8, modulates the immune response at all AAV doses tested.

The majority of genetic studies focus on people of European descent, which limits the understanding of how genes influence health in other populations. Now researchers at the Perelman School of Medicine at the University of Pennsylvania and the Corporal Michael J. Crescenz VA Medical Center have partnered with a team of researchers at the Department of Veterans Affairs and the Department of Energy

Disorders/differences of sex development (DSD) are difficult to diagnose because of the multiple phenotypes and genes involved, but a new technique developed at Hudson Institute of Medical Research is set to change all that.

A recent large cohort study, conducted jointly by researchers from BGI Genomics and Nanjing Women and Children's Healthcare Hospital, implemented a self-developed prenatal screening strategy to effectively identify and classify 128 true-positive exonic copy number variations (CNVs) in the Duchenne muscular dystrophy (DMD) gene using noninvasive prenatal testing (NIPT) data.

A new gene therapy treatment for Duchenne muscular dystrophy shows promise of not only arresting the decline of the muscles of those affected by this inherited genetic disease, but perhaps, in the future, repairing those muscles.

Investment in research into genetics could dramatically improve educational policies and understanding of parenting in ways that could help all children, according to a new paper led by the University of Surrey.

Most research in human genetics has historically focused on people of European ancestries—a long-standing bias that may limit the accuracy of scientific predictions for people from other populations.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, severe, and deadly genetic disorder characterized by damage to small blood vessels in the brain. The condition triggers strokes. It is caused by mutations that lead to a loss of function of the protease HTRA1. This enzyme plays an important role in maintaining equilibrium in the extrace

Researchers at the University of Colorado School of Medicine have uncovered insights into how red blood cells function and survive during storage—discoveries that could lead to better outcomes for patients receiving blood transfusions.

Building upon groundbreaking research demonstrating how the SARS-CoV-2 virus disrupts mitochondrial function in multiple organs, researchers from Children's Hospital of Philadelphia (CHOP) demonstrated that mitochondrially-targeted antioxidants could reduce the effects of the virus while avoiding viral gene mutation resistance, a strategy that may be useful for treating other viruses.

Obesity is a complicated condition, caused by a combination of genetics, the food environment, behavior, and other factors. For millennia, getting enough food to survive and thrive was difficult. For most people, it's now as easy as opening a refrigerator.

Women who carry a particular form of a pain gene are more likely to respond well to a common medication used to treat long-term discomfort, research shows.

Individual cells in the human body develop progressively over time, ultimately becoming specialized in specific functions. This process, known as cell differentiation or specialization, is central to the formation of distinct cell populations that serve different purposes.

Researchers have identified a new mutation in the ARPP21 gene that could be the cause of amyotrophic lateral sclerosis (ALS), a devastating neurodegenerative disease. The researchers are from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist Dr. Ricard Rojas-García.

Scientists at deCODE genetics have published a study in Nature Communications, comparing over 110 thousand patients with autoimmune thyroid disease (AITD) from Iceland, Finland, UK and U.S. with 1.1 million controls. The findings of this study illustrate how a multiomics approach can reveal potential drug targets and safety concerns.

When it comes to determining whether a vegetarian diet is right for you, genetics are an important part of the equation, according to a new study from the University of Georgia.

A study, titled "Single-cell transcriptomic Atlas of aging macaque ocular outflow tissues" appearing in Protein & Cell, delves into the age-related changes in the trabecular meshwork (TM) of macaques, which are vital for regulating intraocular pressure and maintaining eye health.

A global collaboration involving University of Manchester scientists has discovered a gene whose variants potentially cause neurodevelopmental disorders (NDDs) in hundreds of thousands of people across the world.

In a new study, Yale researchers identified a molecule that binds to a disease-associated macrophage migration inhibitory factor (MIF) gene variant. The discovery, they say, could lead to the development of a new generation of precision medicine-based therapies that address diverse autoimmune and inflammatory conditions.

Chromosome 18q deletion (18q del) syndrome is a rare genetic disorder, affecting approximately 1 in 40,000 to 55,000 individuals, caused by the deletion of genetic material on the long arm of chromosome 18. This genetic anomaly disrupts normal growth and development, and critically, can impair the immune system's functionality.

A team of researchers led by Oscar Sánchez-Carranza in Professor Gary Lewin's lab at the Max Delbrück Center have identified a new function for the PIEZO2 protein—in mediating chronic pain hypersensitivity. The research suggests a new target for analgesics and potentially explains why pain medications that target voltage gated sodium channels have been disappointing as clinical targets. The study

A team led by scientists from Baylor College of Medicine, University of Copenhagen, and Center Nacional d'Anàlisi Genòmica and Center for Genomic Regulation report discovering fossils of ancient chromosomes in the remains of a woolly mammoth that died 52,000 years ago. The fossils preserve the structure of the ancient chromosomes down to the nanometer scale—billionths of a meter. The discovery is

Adeno-associated virus (AAV)-based viral vectors used in human gene therapy can trigger innate immune pathways, leading to the initiation of adaptive immune responses. A new review article published in the journal Human Gene Therapy describes the range of likely redundant innate immune pathways that AAV vectors can activate, resulting in an exaggerated adaptive immune response.

Cardiovascular disease often culminates in heart failure, a hallmark of which is fibrosis, a form of tissue scarring. Cardiac fibrosis initially repairs damaged heart tissue, but it can quickly become excessive and pathological. Identifying the mechanisms behind fibrosis is a focal point in cardiovascular research, and now scientists at the Lewis Katz School of Medicine at Temple University have d

Cystic fibrosis is one of the most common genetic disorders, causing thick mucus build-up in the lungs and other parts of the body, breathing problems, and infection. A three-drug cocktail known as Trikafta has greatly improved patient quality of life since its development in 2019, but it can cause cataracts and liver damage and must be taken daily at a cost of about $300,000 per year.

A multidisciplinary research team has developed a discovery platform to probe the function of genes involved in metabolism—the sum of all life-sustaining chemical reactions.

University of Queensland researchers have unlocked crucial molecular secrets of aging in cells, potentially paving the way to improve quality of life as people age.

Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle control, limited speech, epilepsy, and intellectual disabilities. Though there isn't a cure for the condition, new research at the UNC School of Medicine is setting the stage for one.

Osteoporosis is a common disorder, especially in the elderly, characterized by bone loss and increased fracture risk. Treatments target abnormal osteoclast activity but face adherence issues. The disease disrupts the balance between bone resorption and formation. Key factors like Wnt signaling and mitochondrial health influence osteoblast differentiation. However, WIF1's role in regulating mitopha

A vascular dilatation in the aorta can be life-threatening if it bursts. These so-called aortic aneurysms typically form in the same sites of the large blood vessel: either on the upper arch or in the abdominal cavity.

A recent study by the University of Helsinki has uncovered that a mutation in the RFX6 gene significantly impairs insulin secretion, thereby elevating the risk of type 2 and gestational diabetes among carriers. Notably, this gene mutation is more prevalent in Finland than in other parts of the world.

Borstel researchers are the first to develop a biomarker to predict the occurrence of neuropathic adverse events during therapy for multidrug-resistant tuberculosis. The results have now been published in the journal Pathogens & Immunity.

Osteoporosis—weakening of the bones with age—affects millions worldwide, and this figure is increasing annually as the global population ages. It is associated with the aging, or "senescence," of bone cells, but the underlying cell types and mechanisms were unclear.

A team of pediatricians, epidemiologists and preventive medicine specialists affiliated with several institutions in Israel and Denmark has found that children born to parents who were obese when they were 17 are more likely to be obese at the same age.

Genes can indirectly influence the age at which girls have their first period by accelerating weight gain in childhood, a known risk factor for early puberty, a Cambridge-led study has found. Other genes can directly affect age of puberty, some with profound effects.

Researchers from the Icahn School of Medicine at Mount Sinai have shed valuable light on the nuanced functions and intricate regulatory methods of RNA editing, a critical mechanism underlying brain development and disease.

When Michael Pirovolakis received an individualized gene therapy in a single-patient clinical trial at The Hospital for Sick Children (SickKids) in March 2022, the course of his condition was dramatically altered.

Scientists have generated a comprehensive map of the gene targets regulated by the transcription factors HNF4A and HNF1A in human pancreatic beta cells and liver cells. Published in the journal Nature Communications, the study revealed common and tissue-specific molecular pathways regulated by HNF4A and HNF1A, two proteins that possess important functions governing the development and function of

Neurogenetic disorders, such as neurofibromatosis type 1 (NF1), are diseases caused by a defect in one or more genes, which can sometimes result in cognitive and motor impairments. Better understanding the neural underpinning of these disorders and how they affect motor and cognitive abilities could contribute to the development of new treatment strategies.

For patients with schizophrenia, the single-nucleotide polymorphism (SNP) rs13194504 AA genotype is associated with reduced severity of tardive dyskinesia (TD), but is not associated with occurrence, according to a study recently published in Human Psychopharmacology: Clinical & Experimental.

Gender reveal parties are best known as celebrations involving pink and blue, cake and confetti, and the occasional wildfire. Along with being social media hits, gender reveals are a testament to how society is squeezing children into one of two predetermined gender boxes before they are even born.

A genetic variation common in people of African ancestry is associated with an increased risk of complications from diabetes, including diabetic retinopathy, according to a report published June 25 in the journal Nature Medicine.

Asthma patients experience respiratory distress due to allergens like house dust mites or pollen. However, the various triggers for asthma share a common pathway involving the release of proteins called type-2 cytokines by Type-2 helper T (Th2) cells and group-2 innate lymphoid cells (ILC2s). Both Th2 and ILC2 require high amounts of GATA-binding protein 3 (GATA3) for their maturation.

Many people are familiar with oncogenes—genes long known to be involved in cancers in humans, such as the gene Src. What's less widely understood is that oncogenes didn't evolve just to cause cancer in species, but rather to control events of normal growth and differentiation.

At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.

In a small study, researchers have discovered how a set of genes could cause neurons to die in sporadic amyotrophic lateral sclerosis (ALS). The results, published in Nature Aging, provide insight into the root causes of ALS and may lead to new ways to halt disease progression.

Biliary atresia (BA) is a severe neonatal liver disease characterized by inflammatory and fibrotic obliteration of intrahepatic and extrahepatic bile ducts. This condition often leads to neonatal jaundice, cirrhosis, and portal hypertension, making it the leading cause of pediatric liver transplants.

Scientists at the Victor Chang Cardiac Research Institute in Australia have produced a first of its kind integrated map of heart cells which unlocks the process of cardiac fibrosis—a major cause of heart failure.

Glomerulus, the fundamental filtering unit of the kidney, is an intricate network of capillaries—small blood vessels that regulate the movement of ions, water, and metabolites while maintaining impermeability to essential macromolecules such as proteins.

Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a discovery that could significantly advance our understanding of genomic disorders. Their latest study, published in the journal Cell Genomics, reveals how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases.

Researchers at The University of Texas MD Anderson Cancer Center have demonstrated that therapeutically restoring "youthful" levels of a specific subunit of the telomerase enzyme can significantly reduce the signs and symptoms of aging in preclinical models. If these findings are confirmed in clinical studies, there may be therapeutic implications for age-related diseases such as Alzheimer's, Park

An article published by Technion researchers in Nature presents new insights about the evolution of the immune system. The team's findings highlight the modularity and flexibility of the evolution of immunity.

A new study from deCODE genetics and collaborators is the first to uncover a strong recessive component in Alzheimer's disease.

Cellular models used to search for new therapies for myotonic dystrophy type 1 do not usually take into account the diversity of subtypes presented by patients. A study led by researchers from the Germans Trias i Pujol Research Institute (IGTP) has taken a step forward by developing three new models that represent this heterogeneity.

As a strategic initiative under IGTP, GCAT (Genomes for Life) continues to make substantial contributions to public health knowledge. The latest GCAT study, conducted through the COVICAT initiative, signed by Ximena Goldberg and Rafael de Cid, sheds light on the complex interplay between genetic predispositions and environmental stressors in determining depression risk, especially during the COVID

Scientists have discovered a new piece of the puzzle in understanding why some people are more susceptible to Alzheimer's disease. The research has been published in the journal Nature Communications.

Recent advances in genomic sequencing have revealed that 5–15% of children with cancer have an underlying genetic predisposition. Although genetic predispositions increase the risk for new tumors, it has been unclear when to begin surveillance for these tumors.

Genetic testing is not yet a standard component of workplace wellness programs, but what if it were? Researchers at The Jackson Laboratory and the University of Michigan aim to answer this question, and to consider the ethical and social implications associated with such offerings.

A team of international researchers, led by the University of Exeter, has discovered that people with a genetic variant that disables the SMIM1 gene have higher body weight because they expend less energy when at rest.

A scientific story that began with a discovery in just one extraordinary patient is now panning out. In 2019, an international team that included researchers from two Mass General Brigham hospitals—Mass Eye and Ear and Massachusetts General Hospital (MGH)—reported on the case of a patient who did not develop cognitive impairment until her late 70s, despite being part of a family at extremely high

Osteoporosis is a skeletal condition that leads to the weakening of bones, making them porous, fragile, and prone to breakage. A whopping 8.9 million fractures are caused by osteoporosis annually, with one fracture occurring every three seconds.

Common complications of pregnancy affecting fetal size may be caused by irregularities in the transport of amino acids across the placenta—a finding with therapeutic implications. Intrauterine growth restriction (IUGR) and fetal overgrowth affect 15%–20% of pregnancies worldwide.

Sepsis patients could be treated based on their immune system's response to infection, not their symptoms.

A new aging atlas gives scientists an in-depth view of how individual cells and tissues in worms age and how different lifespan-extending strategies might stop the clock. The work is published in the journal Nature Aging.

A new study by investigators from Mass General Brigham suggests that whether a person inherits risk of Alzheimer's disease from their mother or father influences the risk of biological changes in the brain that lead to the disease. By evaluating 4,400 cognitively unimpaired adults ages 65–85, the team found those with a history of Alzheimer's disease (AD) on either their mother's side or both pare

A new USC Leonard Davis School-led study highlights how transposons—commonly called "jumping genes" because of their ability to move to different parts of the genome—are associated with age-related disease and decline, as well as how additional genes governing transposon expression may one day be therapeutic targets for aging.

Researchers at the Francis Crick Institute, UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital for Children (GOSH) have designed a new genetic therapy that could alleviate debilitating giant moles in a rare skin condition.

Researchers from University of Tsukuba found that personalized guidance significantly reduced alcohol intake among young adults who habitually engage in excessive drinking. This guidance was based on individual genetic information related to alcohol metabolism. Their findings underscore the effectiveness of personalized alcohol-reduction strategies.

Researchers have discovered a better way of identifying those at high risk of potential heart attacks and strokes and other major cardiovascular disease (CVD) events.

It was earlier discovered that a variation in the PAX4 gene specifically predisposes East Asians to a higher risk of developing type 2 diabetes (T2D), increasing lifetime risk by up to 1.8 times. A new study, now published in the journal Nature Communications, reveals for the first time how an East Asian-specific PAX4 gene variant, R192H, impacts the development and function of beta cells in the p

Scientists at the UNIGE have identified the genetic sequences that regulate the activity of the genes responsible for bone growth.

A group of researchers from the University of Tartu and international scientists discovered new mechanisms of how stroke occurs by studying changes in mouse and human cells. The study, published in Circulation Research, lays the foundation for new, more precise treatment methods and better diagnostics, which could improve cardiovascular health in the future.

Though rare, medulloblastoma is the most common cancerous brain tumor in children. These tumors begin in the lower back part of the brain called the cerebellum, which is important for balance, coordination and movement. Medulloblastomas are embryonal tumors that grow from embryonal cells left over from fetal development.

Early detection and treatment of hereditary transthyretin-related amyloidosis via genetic counseling are crucial. Yet, not all at-risk individuals seek genetic counseling, and management for presymptomatic carriers remains unclear. To tackle these knowledge gaps, a research team from Japan conducted a retrospective study on over 200 people who sought genetic counseling at a medical center, sheddin

The largest genetic analysis of an autoimmune disorder known as systemic sclerosis ever conducted in an Asian population has uncovered six new DNA markers for this rare tissue disease—a discovery that promises to improve treatment for patients worldwide. The study is published in Nature Communications.

An unsuspected gene, Glis2, has been found to be a target of polycystic kidney disease (PKD) signaling in preclinical models.

A viral gene therapy developed by University at Buffalo researchers has reversed some brain abnormalities in infant mice with FOXG1 syndrome, a significant step toward one day treating children with this severe neurodevelopmental disorder.

VEXAS syndrome is a rare, adult-onset, life-threatening autoinflammatory disease caused by a genetic mutation. The pathophysiology is still unknown, but new work presented at the 2024 congress of EULAR—The European Alliance of Associations for Rheumatology—aims to provide a molecular and phenotypic characterization of hematopoiesis in VEXAS patients, and to develop cellular and humanized mouse mod

Mutations are changes in the molecular "letters" that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including cancer. Now, a new study introduces an original technique, called HiDEF-seq, that can accurately detect the early molecular changes in DNA code that precede mutations.

With space travel becoming more frequent, a new biomarker tool has been developed by an international team of researchers to help improve the growing field of aerospace medicine and the health of astronauts.

Researchers from Japan have uncovered the genetic diversity and regional patterns of CARD9 deficiency in patients susceptible to fungal diseases.

Metabolic syndrome (MetS) is a health condition characterized by a group of risk factors: high blood pressure, high blood sugar, unhealthy cholesterol levels, and abdominal fat. These factors increase the risk of heart disease, type 2 diabetes, and other serious health problems.

Determining the genetic and epigenetic factors that influence brain folding is the objective of the latest study co-led by the Neurogenesis and Cortical Expansion laboratory, directed by researcher Víctor Borrell at the Institute of Neurosciences (IN), a joint center of the Spanish National Research Council and the Miguel Hernández University (UMH) of Elche, and the laboratory led by researcher Vi

Each cell contains a set of instructions in its DNA that determines which genes are expressed and which are silenced. The correct programming of these so-called epigenetic programs, including DNA methylation, is essential for fertilization and development.

Investigators led by Tsutomu Kume, Ph.D., professor of Medicine in the Division of Cardiology and of Pharmacology, have identified novel genetic mechanisms that regulate blood vessel growth in the retina and may also serve as therapeutic targets for retinal vascular disease, according to a Northwestern Medicine study published in Nature Communications.

Researchers from Children's Hospital of Philadelphia (CHOP) have developed a new tool to help analyze data collected from spatial transcriptomics technologies (SRTs), which simultaneously profile gene expression and spatial location information in tissues to pinpoint which cells in which layers of tissue may drive various diseases.

Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause of morbidity and mortality worldwide.

Like treetops reaching high into the sky to sense the sunlight, our sensory neurons—whose role is to collect information about what is happening in and around the body—grow long, intricate extensions known as axons. These extensions spread out throughout the body, conveying various sensations in response to different stimuli. But who is the constant gardener making sure that these extensions don't

If a distressed stranger knocked on your door asking to use your phone, would you oblige? How about lending them a fiver for the bus, if they assured you they'd return and pay you back? In today's fractured world, trust seems elusive and divisions run deep. A lot of people find it hard to trust strangers, perhaps in particular those who are different to us.

Zhu Yangyang babbles away like a typical happy three-year-old, calling out for "mama" and "papa" and accurately naming colors—a remarkable achievement considering he was completely deaf just months ago.

Women are twice as likely as men to develop post-traumatic stress disorder, but the factors contributing to this disparity have largely remained unsettled. A research team led by Virginia Commonwealth University and Lund University in Sweden conducted the largest twin-sibling study of PTSD to date to shed light on how genetics may play a role.

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its maternal transmission.

Researchers at Columbia University College of Dental Medicine have developed an exosome-based platform, "safeEXO-Cas," that significantly enhances the delivery of CRISPR/Cas9 genome editing components to specific cells and tissues.