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Clinical genetics news
Genetic pathway offers new insight into timing of early brain development
Melbourne researchers have uncovered a critical signaling pathway that controls the timing of brain development, shedding new light on how neurodevelopmental disorders may develop. The research, led by Murdoch Children's ...
3 hours ago
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Powerful new tool reveals potential 'goldmine' of cancer targets hidden in 'junk DNA'
A QIMR Berghofer-led team has developed a powerful tool to explore and understand the mysterious workings of the vast region of the human genome once dismissed as "junk DNA," discovering thousands of molecules that could ...
4 hours ago
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Genetics of personality may shape more life outcomes than previously thought
An international consortium of researchers found that more than 1,200 different genetic variants are associated with the Big Five personality traits—and, surprisingly, these personality genetics are linked to dozens of life ...
8 hours ago
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New class of KRAS inhibitors shows promise in shrinking NF1 nerve tumors
A scientist at Cincinnati Children's who has hunted for decades for ways to shrink the painful and disfiguring nerve tumors caused by neurofibromatosis type 1 (NF1) has made a new breakthrough in the quest. Nancy Ratner, ...
5 hours ago
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Neuropsychologist finds gaps between treatment and science of ALS, dementia in her own family
For A. Campbell Sullivan, PsyD, this time it's personal. As a neuropsychologist and clinical associate professor of neurology at the Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases at UT Health San Antonio, ...
6 hours ago
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Dozens of genes tied to OCD and tic disorders discovered
A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk of obsessive-compulsive disorder (OCD) and chronic tic disorders—providing, two researchers said, the most detailed biological ...
Sep 1, 2026
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Targeting protein synthesis control regions may reduce seizures in genetic epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern ...
Aug 31, 2026
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Scientists identify genes that could reduce APOE4 Alzheimer's disease risk
An international team of researchers led by Michael E. Belloy, Ph.D., an assistant professor of neurology and psychiatry at WashU Medicine, identified key genetic targets for developing potential Alzheimer's disease therapeutics. ...
Aug 31, 2026
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Poor diet may worsen genetic causes of male infertility, study finds
Lifestyle factors can worsen the effects of genetic causes of male infertility, finds new research that could help explain why men carrying similar genetic mutations often experience different levels of fertility impairment.
Aug 31, 2026
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Clues to longevity may reside in the genomes of long-lived bats
The secret to a long life may lie in the genomes of the longest-lived mammals for their size: bats. That idea captivated Juan Manuel Vazquez when he was a graduate student at the University of Chicago, but at the time he ...
Aug 30, 2026
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Next-generation RNA approach provides hope for genetic diseases missed by current drugs
Researchers at the University of Toronto have developed a next-generation RNA therapeutic approach with the potential to treat a wide range of genetic diseases that share certain disease-causing mutations. The work advances ...
Aug 27, 2026
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Largest ever molecular map of autism opens new paths to precision therapies
For more than two decades, researchers have identified hundreds of genes that increase the risk of autism spectrum disorder (ASD). Yet multiple fundamental questions have remained unanswered: Among them, how do mutations ...
Aug 27, 2026
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Unexpected discovery reveals mechanism behind brain tumor development
When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant ...
Aug 27, 2026
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More accurate risk assessment developed for Alzheimer's disease among nonwhite patients
Late-onset Alzheimer's disease (AD) is a progressive disorder characterized by cognitive decline and memory impairment, affecting an estimated 6.9 million people in the U.S. The clinical course of AD unfolds over many years, ...
Aug 27, 2026
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Primate-specific DNA change reveals a new link to dementia-related neurodegeneration
Brain diseases, including dementia, have long been studied using experimental animals such as mice. However, differences between the human and animal genomes have raised concerns that some disease mechanisms may not be fully ...
Aug 27, 2026
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Children of centenarians often live longer and face lower cardiovascular risks, analysis finds
Adults with at least one parent who reached age 100 lived longer and had substantially lower risks of cardiovascular disease and hypertension than people whose parents had shorter lifespans, according to a study published ...
Aug 26, 2026
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Stress gene 'stuck on' in the brains of people with schizophrenia, study finds
Experts at the University of Sydney have found that a gene involved in regulating the body's response to stress switches on more easily in the brains of people who live with schizophrenia.
Aug 26, 2026
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People say they would not want to test embryos for traits like low IQ. But if given the information, they act on it
A study of more than 2,000 people in the United States and China finds that the line between medical and nonmedical traits, which underpins rules on embryo testing in most countries, does not match public preferences.
Aug 26, 2026
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Inherited genetic variants help identify patients at higher risk of aggressive therapy-related blood cancers
Some patients develop aggressive blood cancers years after receiving chemotherapy or radiotherapy for a previous cancer. These conditions, known as therapy-related myeloid neoplasms (t-MN), are currently classified mainly ...
Aug 26, 2026
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How DNA folding controls immune gene activity in T cells
A new study by researchers at the Perelman School of Medicine at the University of Pennsylvania reveals that the three-dimensional folding of DNA at a key genetic locus helps determine when two related immune genes, Ets1 ...
Aug 26, 2026
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First-in-human pilot trial improves stem cell collection and delivery for sickle cell gene therapy
Patients with sickle cell disease are often hesitant to undergo transformative gene therapy—the current lengthy process requires multiple hospital visits to collect enough stem cells. Researchers from Boston Children's Hospital ...
Aug 25, 2026
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Abnormal differentiation of fetal neural progenitor cells causes autistic-like behavior in mice
Autism spectrum disorder is a developmental disorder characterized by difficulties with social interaction, restricted interests and repetitive behaviors. It has attracted significant attention because of its high prevalence, ...
Aug 25, 2026
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Turning up protein production: A new genetic approach to polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure. Despite decades of research, treatment options for the disease remain limited, and many patients ultimately require ...
Aug 25, 2026
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New clues to the genetic roots of hair-pulling and skin-picking
Two disorders with big names—trichotillomania (repeated hair-pulling) and excoriation disorder (repeated skin-picking)—were the focus of a recent Yale study looking at potential genetic causes. The two disorders are part ...
Aug 25, 2026
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A single genetic test can uncover causes of previously unexplained premature ovarian insufficiency
Premature ovarian insufficiency affects up to 3.5% of women and is an important cause of female infertility. However, in most cases, the underlying cause remains unknown. A recent study by researchers at the University of ...
Aug 25, 2026
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