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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
How many doctors does it take to solve a medical mystery? In this patient’s case, the answer is six
3+ hour, 6+ min ago (1021+ words) To say that Amer Karim is one in a million is a considerable understatement. More like one in just a few thousand cases reported worldwide. Had the cancer come back and spread to the bone? Karim was referred to Fred…...
Genedrive plc Announces New Uk Clinical Guideline for Mt-Rnr1 Genotype Testing
6+ hour, 7+ min ago (342+ words) Genedrive PLC noted the publication of the UK clinical guideline 'MT-RNR1 genotype testing for preventing aminoglycoside-mediated ototoxicity' in the British Journal of Clinical Pharmacology. The... Genedrive PLC noted the publication of the UK clinical guideline 'MT-RNR1 genotype testing for preventing…...
Genetic Candidates Explain Why Autism Affects More Males Than Females
12+ hour, 11+ min ago (227+ words) The fact that autism is diagnosed about four times more often in males than in females suggests sex-specific factors may increase male vulnerability. In the current study, the researchers drew from their long experience with gene MECP2, which is on the…...
David Fajgenbaum: The Largest Study of Pediatric Castleman Disease Natural History and Treatment
9+ hour, 53+ min ago (152+ words) David Fajgenbaum, Associate Professor of Medicine at University of Pennsylvania School of Medicine, Co-Founder and President at Every Cure, shared on LinkedIn: “Thrilled to see our paper – the largest study of pediatric Castleman disease natural history and treatment – published and…...
Massive Genetic Study Reveals New Molecular Targets for Bronchiectasis Across Ancestries
5+ hour, 47+ min ago (648+ words) A trans-ancestry genome-wide association study of over 16,000 bronchiectasis cases combined with multi-omics analyses has pinpointed SERPINA1 as the strongest genetic signal and prioritized candidate molecular targets including AIF1, WWP2, HSPA1A, DXO, CHP2, and FUBP1....
“Someone in my family has kidney disease...” Could persistent hematuria or proteinuria be a sign of Alport syndrome?
21+ hour, 43+ 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
22+ hour, 1+ min 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
1+ day, 2+ hour ago (769+ words) Bioengineer.org...
Rare Disease Summit held at outpatient center, osteopathic college
1+ day, 6+ hour 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
1+ day, 10+ hour 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…...