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Rare Diseases & Genetics
Orphan conditions, registries, gene testing, and family support networks.
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Latest in Rare Diseases & Genetics
Common Lupus Gene Variant Boosts Antiviral Defenses at the Cost of
2+ hour, 35+ min ago (778+ words) Why do genetic variants that raise the risk of autoimmune disease remain so common in the human population? Evolutionary logic would seem to argue that harmful versions of genes should slowly disappear, yet many of the inherited risk factors for…...
ROS1 Fusion Subtype Shapes Survival in Advanced Lung Cancer, Real-World
6+ hour, 36+ min ago (599+ words) A rare but pivotal genetic alteration in lung cancer is once again in the spotlight, and this time the story is told through the lens of everyday clinical practice rather than the polished conditions of a randomized trial....
Gene Mutations After Surgery Predict Lung Cancer Recurrence Risk in Large
9+ hour, 2+ min ago (633+ words) A sweeping retrospective study of more than 1,600 Chinese patients with lung cancer has produced one of the most detailed maps to date of how genetic mutations shape a patient’s risk of recurrence after curative surgery....
Newly Discovered Trypsinogen Variants Drive Immune Responses in
9+ hour, 25+ min ago (654+ words) A team of researchers in China has uncovered a genetic clue that may help explain why some patients develop immunoglobulin G4-related disease, a chronic fibroinflammatory condition that can strike the pancreas, salivary glands, and other organs....
Scientists Build a Gene-Based Survival Model for Lung Cancer Using a Newly
11+ hour, 30+ min ago (686+ words) Lung adenocarcinoma, the most common form of lung cancer worldwide, remains one of the most difficult malignancies to predict and treat, and clinicians have long lacked molecular tools that reliably capture how an individual patient’s tumor will behave....
Rare Gene Variants May Explain Why Some Brains Are More Vulnerable to
12+ hour, 3+ min ago (730+ words) Why does a seemingly minor knock to the head leave one person with a headache that fades within days, while another suffers months of dizziness, fatigue, and memory problems? A new study suggests that part of the answer may be…...
Everyday items linked to autism risk
21+ hour, 33+ min ago (398+ words) The West Australian is a leading news source in Perth and WA. Breaking local and world news from sport and business to lifestyle and current affairs. Exposure to chemicals found in everyday plastics during pregnancy may increase the likelihood of…...
Distinct EFEMP1 variants cause different forms of vision loss
1+ day, 5+ hour ago (248+ words) No name has been formally given for the newly discovered condition, but the researchers are referring to it as EFEMP1-associated late-onset retinal degeneration (L-ORD). It occurs due to the p.Arg140Trp variant in the EFEMP1 gene, which causes abnormally thick material to build…...
Pharmacogenomics: how your genes could help doctors choose the right medicine and dose
1+ day, 9+ hour ago (825+ words) Two people can take the same dose of the same medicine and have very different results. One may improve, while the other gets little benefit or develops serious side effects. Part of the explanation often lies in their genes. Pharmacogenomics…...
Reality check: study finds far fewer genes truly linked to cerebral palsy
2+ day, 1+ hour ago (873+ words) Published - September 11, 2026 09:15 am IST - NEW DELHI For families, gene sequencing offers a profound hope: of ending a gruelling diagnostic odyssey. Finding a definitive genetic root cause optimises patient management, reduces unnecessary testing, and finally gives parents concrete answers. But a…...