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Clinical genetics news
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 ...
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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 ...
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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, ...
2 hours ago
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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 ...
3 hours ago
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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 ...
9 hours ago
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Spatial atlas reveals how ovarian clear cell tumors vary from core to edge
Ovarian clear cell carcinoma (OCCC) has a higher prevalence among East Asian women and is characterized by poor clinical outcomes. An interdisciplinary team led by Professor Ruby Yun-Ju Huang at National Taiwan University ...
Aug 24, 2026
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Previously missed DNA mutation pattern in colorectal cancer identified
Researchers from the University of California San Diego and collaborators have identified a previously overlooked pattern of DNA mutations in colorectal cancer. Scientists use these patterns, known as mutational signatures, ...
Aug 22, 2026
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Younger adults with lung cancer more likely to have targetable genetic changes, study finds
Younger adults with non-small cell lung cancer are significantly more likely than older patients to have genetic alterations that can be matched with targeted therapies, according to a large international study led in part ...
Aug 21, 2026
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A unified framework to explain one of cancer's major drivers
In a rare pair of papers published back-to-back in the journal Genes & Development, research teams led by senior author Anindya Bagchi, Ph.D., associate professor in the Cancer Genome and Epigenetics Program at Sanford Burnham ...
Aug 20, 2026
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AI-guided screening identifies nine drugs that may slow childhood dementia
An Australian research collaboration has identified several existing TGA-approved medicines that could help slow brain damage in children with a rare form of dementia—offering hope for faster treatment options.
Aug 20, 2026
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International study marks step forward in genetic understanding of eating disorders
New research led by the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London, in collaboration with an international partnership of researchers, has, for the first time, compared the genetics ...
Aug 19, 2026
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Single gene injection reverses inherited heart disease in mice and patient-grown tissue
Melbourne researchers have made a gene therapy breakthrough that could restore heart function in children with genetic heart disease, sparing them the need for transplants.
Aug 19, 2026
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Mapping the diversity of chronic lymphocytic leukemia at single-cell resolution
Two patients with chronic lymphocytic leukemia (CLL) can face very different futures. One may live for decades without needing treatment, while another may develop rapidly progressing disease. In a new study from Karolinska ...
Aug 19, 2026
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Genetic risk score identifies nearly one in five MODY referrals with hidden type 1 diabetes
A new study shows that incorporating a genetic risk score into standard testing for a genetic form of diabetes that affects young people could identify hidden type 1 diabetes in about 1 in 5 patients with a negative genetic ...
Aug 19, 2026
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Hidden aggressive cells reveal why some lower-risk childhood cancers turn deadly
New insights into why some children with rhabdomyosarcoma (RMS) develop aggressive disease despite being classified as non-high-risk have been uncovered. The discovery could help clinicians identify children with potentially ...
Aug 19, 2026
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Patchy brain development may help explain autism's varied traits
Autism spectrum disorder (ASD) affects every individual differently. Scientists have identified more than a thousand genes associated with ASD, yet no single gene accounts for most cases. This has left researchers with a ...
Aug 18, 2026
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Study demonstrates a new standard for pediatric research
A new analysis from the Gabriella Miller Kids First Data Resource Center (Kids First DRC) shows how a collaborative, data-driven research model is creating broader opportunities to understand pediatric disease.
Aug 18, 2026
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Rare gene variants may multiply Alzheimer's disease risk
Alzheimer's disease is the most common form of dementia worldwide, and its development is influenced by a combination of genetic and environmental factors. In recent years, the PLCG2 gene and its encoded enzyme, PLCγ2, have ...
Aug 17, 2026
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Advanced genetic testing opens new treatment options for nearly one in three cancer patients, study finds
A new study from London Health Sciences Centre Research Institute (LHSCRI) shows that expanded genetic testing can help match cancer patients with more personalized treatment options, with nearly one in three found eligible ...
Aug 17, 2026
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What is sudden adult death syndrome?
When Mark Hughes, the former Manchester United and Wales manager, lost his 38-year-old son, an inquest found the cause was sudden adult death syndrome, or SADS.
Aug 16, 2026
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New approach opens rare immune cells to genetic risk research
Much of how genetic risk leads to disease has remained hidden. In many cases, genetic variants linked to disease do not act on nearby genes along the chromosome. Instead, they influence genes located far away along the DNA ...
Aug 15, 2026
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Genome analysis uncovers candidate genes for hereditary breast and ovarian cancer
Breast cancer is the most common form of cancer among women in Germany: Around 1 in 8 women will develop it during their lifetime. In around 5% to 10% of cases, the condition is caused by a hereditary predisposition. Thirteen ...
Aug 14, 2026
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In vivo CRISPR screen identifies gene edits that strengthen CAR-T therapy against solid tumors
For patients with blood cancers like leukemia and lymphoma, the immunotherapy known as CAR-T cell therapy can be lifesaving. Doctors remove a patient's immune cells, called T cells, engineer them in the lab to better recognize ...
Aug 12, 2026
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Machine learning approach could bring greater certainty to prenatal genetic testing
Advances in genome sequencing are giving more families access to prenatal genetic testing and new information about an unborn baby's health, including whether genetic changes may be linked to a neurodevelopmental condition.
Aug 12, 2026
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Genomic newborn screening could identify some children at risk for early cancers
A large population-based study led by researchers at Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Mass General Brigham suggests that genetic testing added to routine newborn screening could identify ...
Aug 12, 2026
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