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Clinical genetics news
New drug target identified for Fragile X syndrome
UCLA Health researchers have identified a potential drug target for treating Fragile X syndrome, the most common genetic cause of intellectual disability and autism that affects roughly one in 2,000 boys.
14 hours ago
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Open-access tool decodes DNA change patterns in breast cancer
A study led by Dr. Jason Pitt, Principal Investigator at the Cancer Science Institute of Singapore (CSI Singapore), has identified eight new "signatures" of DNA patterns (gains and/or losses) in breast cancer. By analyzing ...
12 hours ago
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Machine learning reveals common genetic cause behind unexplained peripheral neuropathy
Researchers at WashU Medicine and collaborating institutions have developed a novel computational tool that can accurately identify a genetic problem in a gene called RFC1 that is linked to certain forms of peripheral neuropathy. ...
17 hours ago
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Longevity-linked APOE2 gene variant helps neurons repair DNA and resist aging
People who carry the APOE2 version of the apolipoprotein E gene are more likely to live to advanced age and are partly protected against Alzheimer's disease, but scientists have struggled to explain why. A new study from ...
May 17, 2026
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Understanding alternating hemiplegia of childhood, a rare disorder
For families of children born with alternating hemiplegia of childhood, the questions begin almost immediately: Will it get worse? How long do we have? What should we prepare for? The clearest answers yet are emerging and ...
May 17, 2026
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New reporting system aims to ensure accuracy and rigor of mouse models after widespread mismatches
Backed by new research findings, researchers at the UNC School of Medicine have developed a new reporting system that will allow researchers across the United States to confirm the genetic accuracy of their mouse models.
May 15, 2026
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MYH9 gene may help explain heart artery plaques more often seen in women
Researchers at UCLA Health have identified a key gene that may help explain why women are more likely than men to develop a certain type of artery plaque linked to heart disease.
May 15, 2026
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Your address, ancestry and gut may be steering aging in ways medicine has barely begun to map
Researchers at the Stanford School of Medicine have found that ethnicity and geography may influence human molecular makeup—from metabolism and immunity to gut microbiota and biological aging. The findings, published in Cell, ...
May 14, 2026
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Genes give neurons a 'GPS' to form the brain's neural circuits, scientists show
How complex neural circuits are genetically designed and wired is a fundamental question in neuroscience. Scientists have shown for the first time that genes encode a "wiring map" that guides neurons to connect with the correct ...
May 14, 2026
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Drug trial finds that a treatment shift is needed for brittle bone disease
Increasing bone density in patients with a rare genetic condition that causes bones to break easily does not prevent fractures, a large clinical trial has found. Patients with brittle bone disease who were given treatments ...
May 14, 2026
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Hidden genetic defect linked to Kaposi sarcoma for the first time
A new study has uncovered a genetic cause that may explain why some people develop Kaposi sarcoma despite having no apparent immune deficiency. The rare cancer, which forms in the cells lining blood vessels, is caused by ...
May 14, 2026
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Novel tool enables high-precision, low-cost pediatric leukemia diagnostics
Researchers have introduced a novel diagnostics method that can more sensitively detect gene fusions in B-cell acute lymphoblastic leukemia (B-ALL), the most common type of pediatric cancer, compared to other publicly available ...
May 14, 2026
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Genetic research could help patients avoid amputations
Physicians may one day be able to identify which patients with peripheral artery disease are most likely to develop complications and intervene earlier, thanks to a Northeastern University discovery. Peripheral artery disease ...
May 14, 2026
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Study finds one in eight adults carries hidden genetic risk—and reveals what it takes to act on it
When Mayo Clinic researchers sequenced the genomes of 484 seemingly healthy adults, they found that about 13% carried a serious, previously unrecognized genetic risk—conditions those patients did not know about and that standard ...
May 14, 2026
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Non-coding gene is linked to core social and behavioral traits in autism
A long-overlooked stretch of the human genome appears to play a distinct role in shaping the social and stereotypic repetitive behaviors that define autism spectrum disorder (ASD), without affecting learning or other cognitive ...
May 13, 2026
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A 13-gene panel may help predict response to chemotherapy in triple-negative breast cancer
Researchers at The University of Texas MD Anderson Cancer Center have characterized cancer cell-specific features in the tumor microenvironment (TME) of early-stage triple-negative breast cancer (TNBC) tissues, identifying ...
May 13, 2026
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Genetic risk of schizophrenia manifests in early adolescence, study shows
Research has found that children with higher genetic susceptibility to schizophrenia show decreases in frontal cortical surface area during early adolescence, in contrast to the regional expansion observed in children with ...
May 13, 2026
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Genetic link between cannabis use and psychosis could help to identify those most at risk
New research from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London has highlighted the distinct and shared molecular pathways linking cannabis use disorder (CUD) and psychosis, offering ...
May 13, 2026
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Calculating cancer risk through the genetic fingerprints of tumors
Why do two people with the same cancer diagnosis—the same stage, the same cell type, and the same clinical profile—often have completely different outcomes? For decades, scientists have studied acquired mutations in cancer ...
May 13, 2026
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Researchers successfully treat hereditary epilepsy in a mouse model
In a world first, a research team at the University of Zurich has successfully treated mice carrying an inherited form of epilepsy. The scientists used gene editing to fix faulty DNA directly in the brain cells of mice, which ...
May 13, 2026
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Gut problems in people with a genetic disorder are not caused by structural problems with the esophagus, study confirms
A study, led by experts at the University of Nottingham, has found that persistent and distressing upper gut symptoms experienced by people with hypermobile Ehlers-Danlos syndrome (hEDS), are not due to structural problems ...
May 13, 2026
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New guideline aims to reduce severe allergic reactions to epilepsy drugs
Researchers from the Center of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI-PGx) have published a new prescribing guideline aimed at reducing the incidence of serious allergic reactions to common ...
May 13, 2026
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New genomic approaches uncover surprising cellular dynamics of the aging brain
While much is mysterious about the aging process, change over time remains its cornerstone. The biological shifts that accompany aging seemingly occur in many cells in the body. The problem is, we have tens of billions of ...
May 12, 2026
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Research into Friedreich's ataxia reveals how DNA folding can silence a key gene
Researchers have uncovered a fundamental rule that governs how genes are physically arranged inside the cell nucleus, and how disruptions to that organization can contribute to human disease.
May 12, 2026
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Human islet map links cell mix to insulin output and diabetes risk
Diabetes is the most common and serious chronic disease worldwide, characterized by insufficient insulin to maintain proper blood glucose levels. It affects more than 12% of Americans and is the eighth leading cause of death ...
May 12, 2026
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