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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
Treatments Repurposed by Every Cure Leadership – Every Cure
23+ hour, 2+ min ago (403+ words) 1. TNF inhibitor (Etanercept, adalimumab, or Infliximab) for DADA2 Leader(s): Dr. Chip Chambers, DADA2 Foundation Coarsi R et al. Long-term efficacy of etanercept in ADA2 deficiency Cooray S et al. Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency…...
Are associations of childhood body mass index trajectories with early-onset coronary heart disease modified by parental history of cardiovascular disease?
1+ day, 3+ hour ago (1649+ words) International Journal of Obesity (2026) Cite this article Although body size in early life indicates later cardiovascular disease (CVD) risks it remains unknown whether parental CVD alters this risk. We examined if parental CVD history modifies the association between offspring childhood body…...
Nine in ten patients had ‘clinically relevant’ genetic variation in pharmacogenomics pilot
17+ hour, 45+ min ago (535+ words) Victoria Zeffert / Alamy Stock Images One in ten patients (9.8%) had a genetic variation that warranted a “red flag” warning to switch treatment of a prescribed medicine, a national pharmacogenomics pilot in England has found. In addition, one in four patients…...
Unexpected link identified between rare metabolic disease gene and inherited blindness
13+ hour, 7+ min ago (354+ words) International study led by Greenwood Genetic Center finds variants in a gene associated with MPS I can cause inherited retinal disease image: Dr. Gavin Arno (left) and Dr. Richard Steet in the research laboratory at the Greenwood Genetic Center view…...
Hidden Protein Networks Emerge as Central Players in Huntington’s Disease
5+ hour, 59+ min ago (614+ words) Bioengineer.org...
Study uncovers link between inherited blindness and a gene causing rare metabolic disease
12+ hour, 41+ min ago (358+ words) Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder. What made these cases unusual was that many of the individuals did not…...
PCM GENES: Pediatric HCM, Severe LVH and Gene Variants
13+ hour, 17+ min ago (446+ words) American College of Cardiology PCM GENES: Pediatric HCM, Severe LVH and Gene Variants Severe left ventricular hypertrophy (LVH) was associated with younger age at enrollment and a higher likelihood of a pathogenic variant in MYBPC3 in children with hypertrophic cardiomyopathy (HCM),…...
Hidden Fibroblast Subtype Drives Lung Cancer Growth and Weakens Immunotherapy
10+ hour, 5+ min ago (62+ words) Bioengineer.org Subject of Research: A COL16A1-expressing fibroblast subtype and its spatial niches in EGFR-mutant non-small cell lung cancer Article Title: Multimodal analysis identifies a fibroblast subtype enriched in EGFR-mutant NSCLC and its spatial niches News Source: Nathaniel Bowman. (October…...
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012–2022)
1+ day, 3+ hour ago (663+ words) European Journal of Human Genetics (2026) Cite this article In France, genetic testing for developmental disorders is prescribed within the public healthcare system as part of routine hospital-based care. Conventional tests (CMA, targeted analyses, ES) are funded through standard hospital resources,…...
Two Children Died After Gene Therapy. What Happens Next?
15+ hour, 21+ min ago (220+ words) Two children died after experimental gene therapies. One case involved a high-dose AAV9 therapy. The other involved a personalised gene-editing treatment designed to correct a single mutation. These were very different technologies, but they raise the same uncomfortable question: when we…...