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Clinical genetics news
Twin study suggests genes explain most of the link between IQ and socioeconomic status
New twin research shows that innate IQ plays a major role in predicting your future socioeconomic status. The study, which follows twins during the crucial early adult years, reinforces the view that heredity and genes shape ...
8 hours ago
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Genetic cause identified for one in four MND patients in largest ever rare variant analysis
Project MinE, an international consortium co-founded by researchers at King's College London, has identified new genetic variants that play a role in the development of motor neuron disease (MND). These findings mean that ...
9 hours ago
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Down syndrome study suggests early RNA editing shifts may reshape fetal brain circuits
A collaborative research study co-led by scientists at the Icahn School of Medicine at Mount Sinai and the Liber Institute for Brain Development has for the first time identified a biological process that may help explain ...
20 hours ago
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Study finds 10-plus genetic markers tied to early follicular lymphoma relapse
Follicular lymphoma (FL) is a type of blood cancer and a form of non-Hodgkin's lymphoma. Thanks to new treatment breakthroughs, about 80% of FL patients have a survival rate of more than 10 years. The other 20%, however, ...
4 hours ago
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Prioritizing potentially cancer-causing mutations in real-world cancer genomics
Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling ...
16 hours ago
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Genetic variants involved in rapid immune response linked to earlier breast cancer onset in BRCA1 carriers
Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast cancer onset in carriers of the harmful BRCA1 genetic mutation, reveal preliminary findings published ...
6 hours ago
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Integration of single-cell multiomics data allows a more precise identification of rare cell types and states
Researchers at the Josep Carreras Leukaemia Research Institute have demonstrated that combining data from different origins enables a more precise characterization of cell type's diversity into tissues and organs. The team ...
7 hours ago
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Mutation map reveals how amylin mutations influence type 2 diabetes
Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in amylin—a hormone that plays a key role in glucose regulation—affect its tendency to form toxic amyloid ...
Mar 30, 2026
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A new lens on autism's sex bias: How X chromosome 'escape' genes could shape risk
Autism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research—and ...
Mar 30, 2026
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Newly discovered recessive neurodevelopmental disorder may be most prevalent ever
Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered. ...
Mar 30, 2026
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Autism risk genes are shared across ancestries, research reveals
A new study, co-led by researchers at the Icahn School of Medicine at Mount Sinai and published March 30 in Nature Medicine, demonstrates that genes associated with autism risk are largely the same across people of different ...
Mar 30, 2026
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Common genetic cause of severe epilepsy revealed
A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following research by scientists and doctors in Manchester. Ava Begley's parents say they feel "deeply grateful" ...
Mar 30, 2026
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Genetic code of growing bacterial threat identified using whole-genome sequencing
Scientists at Houston Methodist Research Institute have discovered that a fast-rising strep bacterium comes in more forms than expected, including ones that may lead to life-threatening infections. The study, led by James ...
Mar 30, 2026
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Precision medicine helps more patients receive a genetic diagnosis
A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. ...
Mar 30, 2026
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Changing the long search for rare disease diagnoses with new AI breakthrough
A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often takes years and frequently ends without answers. The tool analyzes how genes have evolved across ...
Mar 30, 2026
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Global review finds wide gaps in rules for polygenic embryo testing
A new global review shows that countries are taking very different approaches to regulating polygenic embryo testing. For more than four decades, in vitro fertilization (IVF) has helped families have children. Scientists ...
Mar 29, 2026
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Are heart failure and atrial fibrillation the same disease? Study reveals shared genetic and molecular mechanics
New research from a multi-institutional team, published in Nature Cardiovascular Research, reveals that heart failure and atrial fibrillation share underlying genetic and molecular mechanisms, suggesting that the two cardiovascular ...
Mar 26, 2026
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Study of 11,000 tumors maps 134 DNA damage signatures across 16 cancers
A team of cancer genomics scientists from The University of Manchester and The Institute of Cancer Research, London, forensically examined the genetic make-up of tumors in 16 different cancers. Their findings, which have ...
Mar 26, 2026
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Designing global flu vaccines? Studies suggest common IGHD deletions may block key antibodies
Inherited variations in antibody genes can affect how we respond to infections and vaccines, show two new studies from Karolinska Institutet published in the journal Immunity. The researchers have mapped immune gene variation ...
Mar 26, 2026
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Largest genomic study of kidney function in Africa reveals new genetic risk factors
An international research collaboration led by Queen Mary University of London and University of the Witwatersrand (Wits) in South Africa has published the most comprehensive genomic investigation of kidney function ever ...
Mar 26, 2026
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For the first time, scientists have mapped the genetics of how the brain ages, region by region
A landmark research paper for the first time maps the genetics of how individual regions of the brain age—and why some of those regions are the very ones most ravaged by Alzheimer's and dementia. Published in the journal ...
Mar 26, 2026
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Why do some viruses linger for life? A 900,000-person study maps viral loads
Some viruses that make us sick are cleared by the immune system within days, while others lurk in our bodies for a lifetime and reemerge later to cause new problems. How and why viral levels in the body change over time—and ...
Mar 25, 2026
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High-resolution atlas of developing human brain combines data from nearly 200 studies and 30 million cells
In a bid to better understand, and potentially treat, a host of conditions that affect early cognition, neurodevelopment and the brain later in life, investigators at Johns Hopkins Medicine and colleagues throughout the world ...
Mar 25, 2026
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Form of infant leukemia caused by NUTM1 gene rearrangements found to be highly treatable
Despite a host of checks and balances that usually prevent harmful genetic mutations, sometimes mistakes happen, with serious consequences. Now, researchers from Japan elucidate how a common mutation underlying a common childhood ...
Mar 25, 2026
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Scientists discover new genetic disease that causes premature aging and cognitive deficits
Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function. The researchers have ...
Mar 24, 2026
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