Tag: rare diseases
ARPA-H funds $160 million gene-editing push for rare diseases after administrative delays
The U.S. Advanced Research Projects Agency for Health (ARPA-H) is awarding $160 million to seven research laboratories to accelerate development…
Only 29% of FDA orphan drug approvals receive matching EMA authorisation
A 13-year analysis of 814 FDA orphan drug approvals found that only 29% received matching EMA authorisation with orphan status,…
Automated genomic reanalysis tool offers new hope for rare disease diagnosis at scale
A new automated tool called Talos has demonstrated the feasibility of systematically reanalysing genomic data to identify previously missed diagnoses…
Rare pelvic tumour safely removed through interdepartmental collaboration at Hungarian teaching hospital
A young woman regained full mobility within 24 hours following laparoscopic removal of a rare benign pelvic nerve tumour (schwannoma)…
UK Orphan Drug Registry Expands Access to Rare Disease Treatments
The UK Medicines and Healthcare products Regulatory Agency (MHRA) maintains a comprehensive registry of authorised orphan medicinal products for rare…
First In Vivo CRISPR Gene Editing Treatment Shows Promise for Rare Blood Disorder
First clinical trial of in vivo CRISPR gene editing for hereditary angioedema shows promising results. The investigational therapy targets genetic…
Hidden Immune Gene Linked to Rare Neurological Movement Disorder
Scientists discovered that CD99L2, a gene previously linked only to immune function, causes rare movement disorders. Analysis of nearly 3,000…