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Clinical genetics news
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 ...
8 hours ago
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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 ...
12 hours ago
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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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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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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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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 ...
Cause or effect? Study answers question about gene linked with colorectal cancer
A new study has answered a question that has puzzled cancer researchers for decades: Does a genetic defect found in nearly all human colorectal cancers simply accompany the disease, or does it trigger its development? A team ...
Apr 1, 2026
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Targeted therapy improves long-term outcomes for patients with rare mutations driving lung cancer
In some non-small cell lung cancers (NSCLCs), changes to the RET gene (known as RET fusions) can drive tumor growth. In a phase 1/2 clinical study with a 42-month-long follow-up period, researchers from Mass General Brigham ...
Apr 1, 2026
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Probing a paradoxical drug response for irregular heartbeat
Irregular heartbeat, or arrhythmia, can be treated with various procedures or medication, but not all medications work for all patients. In fact, one arrhythmia medication can actually cause arrhythmia in people with a common ...
Apr 1, 2026
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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 ...
Mar 31, 2026
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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 ...
Mar 31, 2026
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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 ...
Mar 31, 2026
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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 ...
Mar 31, 2026
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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 ...
Mar 31, 2026
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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, ...
Mar 31, 2026
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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 ...
Mar 31, 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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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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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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