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Clinical genetics news
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 ...
6 hours ago
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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 ...
9 hours ago
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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 ...
10 hours ago
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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.
21 hours ago
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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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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, PLCÎł2, 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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Key genetic differences between pediatric and adult forms of immune-mediated inflammatory diseases identified
Researchers from Children's Hospital of Philadelphia (CHOP) have found that pediatric-onset rheumatic and inflammatory diseases have distinct genetic architecture compared with those in adults. The findings, published today ...
Aug 12, 2026
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Computational framework identifies novel pathway for asthma inflammation
Researchers at Columbia University Mailman School of Public Health, in collaboration with investigators at the University of Chicago, have developed a new computational framework that helps scientists identify genes that ...
Aug 11, 2026
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Long before adulthood, a chemical mark may quietly shape how the brain handles stress
Stress or trauma during childhood may leave people more vulnerable to mental health struggles and stress later in life. Scientists think one reason could be that early-life stress leaves lasting molecular bookmarks on DNA, ...
Genetic variants shed light on kidney transplant rejection
Immunosuppressive medications help prevent organ rejection following transplantation, yet some patients still experience rejection despite receiving adequate treatment. New research from Yale, published in the Journal of ...
Aug 11, 2026
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Heart assembloids give researchers a new way to study heart valve disorders
A multidisciplinary, multi-institution group of researchers focused their expertise in genetics, mechanics, chemistry and biology on a chip the size of a postage stamp to model a particular class of heart conditions.
Aug 11, 2026
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Solving a mysterious inflammatory fever opens the book on a much bigger story
Three research teams working independently around the world have landed on the same discovery: A single molecular "handshake" inside our cells controls a family of inflammatory diseases, including one of the most common inherited ...
Aug 10, 2026
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Molecular structures provide roadmap for targeted Parkinson's disease therapeutics
Researchers at Weill Cornell Medicine have uncovered how a key Parkinson's protein called LRRK2 shifts between inactive and active forms, revealing the structural changes that enable certain mutations to push the protein ...
Aug 10, 2026
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Broccoli could treat untreatable rare nerve disease, research finds
The secret ingredient for treating a rare nervous system disease could be hiding in the fridge, Swinburne researchers have discovered.
Aug 10, 2026
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Telomere-to-telomere brown rat genome could sharpen disease research models
Researchers have created the most complete genetic profile of the brown rat to date, according to a UTHealth Houston-led team, paving the way for scientists to more accurately investigate genetic links to conditions like ...
Aug 8, 2026
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Why the body's inflammatory alarm misfires in familial Mediterranean fever
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease in which the body's own immune system overreacts to minimal or inappropriate stimuli, producing recurrent attacks of fever and painful inflammation. ...
Aug 7, 2026
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From growth to function: Gene helps human heart cells decide when to mature
Understanding how heart muscle cells stop dividing and acquire the characteristics needed to sustain lifelong cardiac function remains one of the greatest challenges in cardiovascular biology. Leveraging human induced pluripotent ...
Aug 7, 2026
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