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Clinical genetics news
Overlooked non-coding genes cause diabetes in babies, study reveals
Scientists have found new genetic causes for diabetes in babies—in a part of the genome that has historically been overlooked in genetic studies. Until recently, most research has investigated causes of disease in "coding" ...
1 hour ago
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Mental and physical illnesses go hand in hand. A new genetic study explains why
For centuries, mental illness and physical disease have been viewed as two distinct categories, each with its own field of study, its own doctors, and its own menu of treatments. New University of Colorado Boulder research ...
17 hours ago
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Mapping mutations at scale in a single gene reveals new neurodevelopmental condition
The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, has historically been opaque. Geneticist and Crick group leader Greg Findlay has pioneered a new ...
21 hours ago
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Extra chromosomes may seed childhood leukemia years before disease, study suggests
B-cell acute lymphoblastic leukemia is the most common form of childhood cancer. In this type of cancer, which affects blood cells, one of the most common abnormalities is the presence of cells with an excess of chromosomes ...
20 hours ago
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Light in the dark: The search for new treatments for hereditary blindness
One night, Tomás realized something was seriously wrong. He went for a stroll, along the same paths near his village that he had walked along countless times with his friends, their cheerful voices echoing in the still of ...
17 hours ago
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Genetic predictors for GLP-1 weight loss efficacy and side effects identified
23andMe Research Institute, a nonprofit medical research organization, announced the publication of a study that identifies genetic predictors for GLP-1 weight loss efficacy and side effects. GLP-1 receptor agonists, including ...
20 hours ago
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Lab-grown pineal gland organoids produce melatonin, offering a new sleep model
Organoids are miniature, simplified versions of an organ. Over the past two decades, scientists have developed them for the gut, lung, liver, mammary gland, brain, and more. Now, researchers at Yale School of Medicine (YSM) ...
Apr 8, 2026
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How childhood dementia begins in brain cells
An Australian-led international research collaboration has delivered a promising breakthrough in the quest to better understand and treat childhood dementia. Recently published in the journal Nature Communications, the study ...
Apr 7, 2026
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Blood-based biomarker could help stratify cancer risk in Lynch Syndrome
Researchers at The University of Texas MD Anderson Cancer Center have discovered a new blood-based biomarker that can help identify and characterize asymptomatic people with Lynch Syndrome (LS) who are more susceptible to ...
Apr 7, 2026
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Scientists uncover previously unknown chromatin regulation mechanism with therapeutic potential for pediatric cancer
As many as 1 in 4 cancers are driven by mutations in the SWI/SNF chromatin-remodeling complex, which controls access to DNA. A study led by St. Jude Children's Research Hospital recently identified the gene-regulatory protein ...
Apr 7, 2026
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Nearly 29,000 genetic 'switches' found unique to East Asian populations
Researchers have mapped how genetic switches are regulated in East Asian populations, identifying tens of thousands of unique markers linked to complex diseases. This massive dataset bridges a crucial diversity gap in genetics, ...
Apr 7, 2026
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New approach could transform epilepsy treatment
University of Virginia School of Medicine researchers have used an advanced gene-editing technique to correct the underlying cause of a severe form of epilepsy in lab mice. This breakthrough could one day lead to new treatments ...
Apr 7, 2026
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Researchers predict coronary heart disease in diabetes subgroup
A growing body of research shows that diabetes can be stratified into five different subgroups. Researchers at Lund University have now investigated whether a person's genetic predisposition to different diabetes subgroups ...
Apr 7, 2026
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Researchers pinpoint genetic identifier in deadly cardiovascular disease
A University of Alberta research team has found a genetic variant that can be used to identify which patients with pulmonary arterial hypertension need the most urgent care. "This could potentially save lives and health-care ...
Apr 7, 2026
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How does mitochondrial DNA influence human health?
Some of your most important life partners are the mitochondria that power all your cells. You and these little cellular powerhouses are in a 1.5-billion-year-old evolutionary relationship—but mitochondria brought some baggage. ...
Apr 6, 2026
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Study identifies genetic drivers of resistant hypertension
Cedars-Sinai investigators have identified distinct genetic variants associated with resistant hypertension, a type of high blood pressure that remains uncontrolled despite medication. Their findings, published in the journal ...
Apr 6, 2026
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Rare MGRN1 gene variant tied to fetal heart malformations
The Human Genetics Research Group of the University of Tartu Faculty of Medicine has identified a gene whose defect may cause congenital heart malformations in the fetus. The MGRN1 gene has not previously been associated ...
Apr 4, 2026
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How an Alzheimer's risk gene disrupts brain circuits long before memory loss
For the millions of people who carry the gene APOE4, the strongest known genetic risk factor for Alzheimer's disease, their brain activity may begin changing long before any memory problems appear. Now, researchers at Gladstone ...
Apr 3, 2026
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How calcium channel mutations disrupt early brain development in childhood epilepsy
Researchers at Baylor College of Medicine have uncovered a previously unrecognized mechanism by which inherited calcium channel mutations disrupt early brain development and predispose children to epilepsy and related cognitive ...
Apr 3, 2026
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Mechanisms behind tumor suppressor BAP1 highlight new treatment strategies for aggressive cancers
A team of scientists led by the National Cancer Center Singapore (NCCS) and Duke-NUS Medical School (Duke-NUS) has found a new approach for treating some of the world's most aggressive cancers associated with BAP1 mutations. ...
Apr 2, 2026
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Could one protein play both sides? How Stard7 shifts colon cancer in different models
Alain Chariot's team has just published a study in EMBO Molecular Medicine shedding light on the unexpected role of the Stard7 protein in the development of intestinal cancers. Long regarded as a simple lipid transporter, ...
Apr 2, 2026
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Largest genome study of urban Peruvians unlocks clues for precision medicine
Latin American people are represented in fewer than 4% of genetic epidemiological studies around the world. When they are included, they're often lumped together as one group, despite the rich diversity among different Latin ...
Apr 2, 2026
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Scalable sensors lower the cost of studying genetic disorders
Researchers have demonstrated a new class of low-cost, scalable sensors that can be used to monitor electrical activity in human cerebral organoids. Because electrical signals are key to understanding brain function, this ...
Apr 2, 2026
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A built-in epigenetic clock controls when neurons mature, study suggests
The brain is the most complex organ in the human body. Different parts of the brain perform a variety of functions, all of which are necessary for it to operate in one way or another. These functions are carried out by neurons, ...
Apr 2, 2026
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Genetic overlap between several mental health disorders could help predict vulnerability
Psychiatric disorders, such as bipolar disorder (BD), major depressive disorder (MDD), schizophrenia and anxiety disorders, adversely affect the daily functioning and well-being of millions of people worldwide. Understanding ...
