Rare Diseases & Genetics

3+ hour, 32+ min ago   (715+ words) There were 1,439 press releases posted in the last 24 hours and 285,829 in the last 365 days. A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood…...

2+ day, 7+ hour ago   (333+ words) Rare Disease Regulatory Framework FDA Rare Disease Framework Initiative Public Meeting On October 28, 2026, the U.S. Food and Drug Administration, in partnership with the Reagan-Udall Foundation for the FDA, will convene a hybrid public meeting to seek input related to the FDA’s…...

11+ hour, 14+ min ago   (559+ words) Small changes in the controls surrounding a brain-related gene may help explain part of the difference in autism diagnoses between boys and girls. Researchers identified inherited changes that altered the gene’s activity, including one that reduced its output in human…...

4+ hour, 48+ min ago   (49+ words) The first genome-wide methylation map of the FXTAS brain reveals epigenetic changes in immune, oxidative stress, and myelination genes that converge with a strikingly reduced inflammatory protein signature. News Source: Cassandra Pierce. (October 15, 2026). Hidden Chemical Tags on DNA Reveal Immune…...

7+ hour, 56+ min ago   (734+ words) Children who were later diagnosed with cancer were more likely to have antibodies in their blood that target the body's own DNA repair proteins, in some cases years before diagnosis, according to researchers at the University of Bergen in Norway....

20+ hour, 17+ min ago   (292+ words) Specialists from the Neurology Department at the Nuestra Señora de Candelaria University Hospital in Santa Cruz de Tenerife have revealed that 50% of patients with rare diseases experience neurological symptoms, including motor dysfunction, cognitive alterations, sensory disorders, behavioural issues, and even…...

12+ hour, 45+ min ago   (66+ words) HCPLive is a clinical news and information portal, offering physicians specialty and disease-specific resources, conference coverage, and interviews. Alpha-Gal Syndrome Moves North, Yet Diagnoses Lag Behind Alpha-gal syndrome is reaching new regions, but delayed reactions and GI-only symptoms can leave…...

14+ hour, 9+ min ago   (325+ words) For families living with Dravet syndrome, seizure frequency is only part of the burden. The continuous, daily reality is the developmental plateau, the communication deficits, the behavioral challenges, the gap that widens every year between their child and neurotypical peers....

20+ hour, 46+ min ago   (385+ words) The formation of the kidney, like other branched structures in the body, is a tightly controlled process that is not well understood. It’s important, because when this process — called branching morphogenesis — goes awry, the kidneys fail to function normally. Now,…...

15+ hour, 40+ min ago   (208+ words) A meta-analysis of HELIOS-B and CARDIO-TTRansform found gene silencers reduced death and CV events, driven by patients not taking stabilizers. Transthyretin (TTR) gene-silencing therapies reduced death and recurrent cardiovascular (CV) events in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), but the benefit…...