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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
Researchers identify a rare genetic change linked to neurodevelopmental disorder
2+ hour, 8+ min ago (449+ words) Finding the identical genetic change in multiple unrelated children was an important clue, but it did not tell us how the change was affecting brain development. By recreating the human variant in fruit flies, we were able to show that…...
FDA Approves Fayuvi, First Gene Therapy for Children With Sanfilippo Syndrome Type A
3+ hour, 10+ min ago (226+ words) Fayuvi is a gene therapy given as a single infusion into a vein. It delivers a working copy of the missing gene directly into cells. This allows the body to make the missing enzyme and break down the sugar buildup....
Roche nabs European approval of Susvimo for neovascular AMD
3+ hour, 55+ min ago (11+ words) European Commission approves Roche’s Susvimo for wet AMD. Read more here....
ADRB3, LEPR, FTO and PPARG variants contribute to obesity-related metabolic syndrome in Brazilian adults: a polygenic risk score approach | International Journal of Obesity
6+ hour, 41+ min ago (689+ words) International Journal of Obesity (2026) Cite this article Polymorphisms in genes involved in obesity-related metabolic pathways are associated with metabolic syndrome (MetS). We hypothesized that variants in FTO, LEP, LEPR, ADRB3, ADIPOQ, TCF7L2, ENPP1, APOA5, PPARG, and CYP11B2 are associated with MetS and obesity-related traits. A…...
Beacon of hope for XLRP patients on Phase III gene therapy success
10+ hour, 44+ min ago (365+ words) Beacon states this is the first pivotal XLRP trial to meet its primary endpoint. Beacon Therapeutics will seek approval for its gene therapy, laruparetigene zovaparvovec (laru-zova), in patients with X-linked retinitis pigmentosa (XLRP) after the Phase III VISTA trial met…...
Never smoked? A rare gene may explain why lung cancer still strikes, KNEWS
10+ hour, 25+ min ago (383+ words) Smoking remains the biggest known cause of lung cancer, but it does not explain every diagnosis. As many as one in five people who develop the disease have never smoked, a medical puzzle that researchers may now be closer to…...
First Gene Therapy for Sanfilippo Syndrome Type A Gets FDA Approval
6+ hour, 37+ min ago (139+ words) Results showed that patients treated with the gene therapy demonstrated a statistically significant 23.5-point (95% CI, 17.2-29.9) improvement in the mean change in Bayley-III Cognitive raw score from 24 to 60 months of age, compared with the untreated natural history cohort (P According to…...
Base Editing Corrected TFG Mutation in Motor Neuron Disease
8+ hour, 56+ min ago (26+ words) Technology Networks Base editing rescues a hereditary motor neuron disease in mouse and patient-derived iPSC organoid models...
Jame Abraham: Germline EGFR T790M Variant Identifies Individuals at Higher Lung Cancer Risk
15+ hour, 16+ min ago (111+ words) Jame Abraham, Enterprise Chairman and Professor at the Department of Hematology and Medical Oncology at Cleveland Clinic, shared on X: “The germline EGFR T790M variant is a rare lung cancer – specific susceptibility allele that is strongly associated with lung cancer risk and…...
How Do Our Genes Shape Our Lung Cancer Risk? - The Mark Foundation for Cancer Research - OncoDaily
1+ day, 1+ hour ago (339+ words) The Mark Foundation for Cancer Research shared on LinkedIn: “How do our genes shape our lung cancer risk? We’ve long known that exposure to things like air pollution or smoking increases lung cancer risk. Now a landmark study reveals that…...