One-size-fits-(nearly)-all fix for V2R mutations
Genetic/congenital Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction…
Saol Therapeutics hit with CRL for rare genetic disease
The U.S. FDA issued a complete response letter (CRL) for the NDA to privately held Saol Therapeutics Inc.’s…
Medicines Reimagined – Repurposing Drugs For New Indications
In a group of health-related headlines, one says “Hope for new drug approach. getty As government-supported research in…
Ionis gets approval for preventing attacks in rare and genetic HAE
In Ionis Pharmaceuticals Inc.’s second U.S. FDA approval in under a year, the agency approved Dawnzera (donidalorsen) as…
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
Researchers classify how specific genetic mutations correspond to rare disorders
The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation.…
Europe moves to reject embattled Duchenne gene therapy
Andrew Joseph covers health, medicine, and the biopharma industry in Europe. You can reach Andrew on Signal at…
UConn, Connecticut Children’s trial gene-editing for rare disease
Julieta Bonvin Sallago is constantly plagued by the worry that she will not wake up in the middle…
Study Links Gout and GCKR Gene
Image Credit: Adobe Stock Results from a recent systematic review and meta-analysis of the relation between single-nucleotide polymorphism…
FDA denies Barth syndrome drug approval, suggests accelerated pathway
For the past decade, Stealth BioTherapeutics has ridden a rollercoaster trying to convince the Food and Drug Administration…