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Rare Diseases

Diagnosis Genetic Disorders Mitochondrial Diseases Epidermolysis Bullosa Batten Disease Progressive Supranuclear Palsy Fibrodysplasia Ossificans Progressiva Hereditary Angioedema Neurological Disorders Amyloidosis

First Documented Donor-Mediated Transmission of F12-Linked Hereditary Angioedema Confirmed in Catalonia

Researchers say the case exposes gaps in gamete-donor screening for dominant conditions with incomplete penetrance.

Theo Colker, Grandson of Choreographer Deborah Colker, Dies at 14

Arizona Woman Nears Discharge After Botulism From Fermented Swordfish

Andalusia to Fund Vyjuvek for Epidermolysis Bullosa Patients After 12-Year-Old’s EU Plea

Maya Kibbel, Jonas Brothers’ Childhood Friend, Dies at 30 as Nick Jonas Pays Tribute

FDA Demands Placebo-Controlled Trial for UniQure’s Huntington’s Gene Therapy

Rare Disease Day Spurs Calls for Faster Diagnosis and Fair Access to Care

Brazil’s SUS Rolls Out Whole‑Exome Sequencing to Speed Rare‑Disease Diagnosis

Germany Marks Rare Disease Day as Genetic Testing Lifts Diagnoses, Care Gaps Persist

Ahead of Rare Disease Day, Uniamo Renews Call to Invest in Research, Rehabilitation and Personalized Aids

Andalusia Launches 109-Measure Rare Disease Plan as Fundraising Boosts Genomic Testing

Mexican Experts Say 8 Million Live With Rare Diseases, Urge National Registry

Melania Trump Marks Valentine’s Day With Children at NIH’s The Children’s Inn

Two-Year-Old With Kawasaki Disease Dies Suddenly at Home in Bristol

Two-Year-Old Laia With Ultra-Rare KARS Syndrome Dies as Brussels Funeral Is Set for Saturday

Paisley Mother Diagnosed With Addison's After 24-Hour Sleep Episodes

Arrowhead Gains FDA Approval for Redemplo as Results Surge and Shares Hit Three-Year High

Tohoku University Team to Launch Investigator-Led Trial of New Mitochondrial Disease Drug in December

Swansea Mother Raises Funds to Seek Experimental Options After Son, 4, Is Diagnosed With Sanfilippo

Paralympic Champion Holger Nikelis Critically Ill With Rare Wilkie Syndrome