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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
“Someone in my family has kidney disease...” Could persistent hematuria or proteinuria be a sign of Alport syndrome?
9+ hour, 41+ min ago (327+ words) [Sportschosun reporter Jang Jong-ho] A study has found that people with a family member who has kidney disease and persistent hematuria or proteinuria may need to consider the possibility of Alport syndrome, a rare disease. A research team led by…...
Fifth Annual Madina Rare Disease Congress Concludes
10+ hour ago (202+ words) Madinah, October 12, 2026, SPA -- The 5th Madina Annual Rare Disease Congress concluded after a one-day event featuring 14 speakers specializing in various medical subspecialties and attended by 560 participants, including 260 in person and 300 virtually. The congress offered six educational hours. The event covered rare…...
Dominant drug-resistant Acinetobacter baumannii lineage traced in northern Peru hospital
14+ hour, 6+ min ago (769+ words) Bioengineer.org...
Rare Disease Summit held at outpatient center, osteopathic college
18+ hour, 41+ min ago (1496+ words) Cherokee Nation citizen Dr. Sydney Martinez gave the keynote address inside the Cherokee Nation Outpatient Health Center for the Rare Disease Summit on Oct. 7. TAHLEQUAH – With an impressive list of speakers and many students attending from the Oklahoma State University…...
Mitochondrial DNA Levels Linked to Cancer Mutation Burden
22+ hour, 24+ min ago (356+ words) MITOCHONDRIAL DNA copy number was associated with mutation burden and cancer-related gene expression in a multicancer analysis. The findings add to research exploring how the genetic material within mitochondria relates to tumour biology. They suggest that mitochondrial measurements could help…...
Zebrafish behavioral phenomics reveals functional subtypes of autism risk genes
2+ day, 5+ hour ago (1744+ words) Molecular Psychiatry (2026) Cite this article All data needed to evaluate the conclusions in the paper are present in the paper and/or the Supplementary Materials. Fu JM, Satterstrom FK, Peng M, Brand H, Collins RL, Dong S, et al. Rare…...
Personalized Navigation Boosts Hereditary Cancer Genetic Testing Among Relatives
1+ day, 6+ hour ago (498+ words) A randomized trial at MD Anderson Cancer Center found that personalized navigation support raised BRCA genetic testing uptake among at-risk first-degree relatives from 51% to 73% in six months, with 90% completing testing by eighteen months....
Title: The Gene Everyone Blames: What MTHFR Really Means for Autism | by Sumairatasleem | Oct, 2026
1+ day, 15+ hour ago (79+ words) Title: The Gene Everyone Blames: What MTHFR Really Means for Autism Subtitle: A biochemist and mother of two autistic boys explains what the research supports, what it doesn’t, and why a gene … Title: The Gene Everyone Blames: What MTHFR Really…...
Rare Disease Hospitalizations Climb Steeply at a Major Chinese Regional Hospital
1+ day, 10+ hour ago (655+ words) An eight-year study of 3,496 rare disease hospitalizations at a tertiary hospital in northern Henan reveals rising admission numbers, heavy nervous system and respiratory disease burdens, and substantial costs that peak for perinatal and tumor-related conditions....
MakatiMed opens rare brain disease center
1+ day, 16+ hour ago (534+ words) MAKATI Medical Center launches specialized neurovascular and Moyamoya centers to improve diagnosis, treatment and long-term care for patients with rare brain vessel disorders. Makati Medical Center has opened its Comprehensive Neurovascular Center and Philippine Moyamoya Center to provide specialized care…...