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Rare Diseases

All articles tagged with #rare diseases

Single CAR-T dose neutralizes rare trio of autoimmune diseases
science1 day ago

Single CAR-T dose neutralizes rare trio of autoimmune diseases

A 47-year-old woman with three autoimmune diseases caused by B-cell antibodies—autoimmune hemolytic anemia, immune thrombocytopenia, and antiphospholipid syndrome—was treated with a single dose of engineered CAR-T cells after failing multiple therapies. Following targeted conditioning chemotherapy, her blood counts normalized within a month, and 14 months later she remains symptom-free and off all medications, suggesting CAR-T therapy could offer a one-off cure for some autoimmune conditions, though this is a single case and long-term safety and applicability need further study.

via Nature|
#autoimmunity#b-cells#car-t-therapy
AI-Driven Repurposing Stakes a New Path for Rare Diseases
health15 days ago

AI-Driven Repurposing Stakes a New Path for Rare Diseases

Every Cure, founded by Dr. David Fajgenbaum, uses AI to scan existing drugs for new uses across thousands of rare diseases, pursuing a disease-agnostic approach that links patients with potential treatments rather than funding specific conditions; after early fundraising hurdles, it gained major support from the Chan Zuckerberg Initiative, Lydia Hill Foundation, Flagship Pioneering, Arnold Ventures, TED’s Audacious Project, and ARPA-H, enabling 10 active programs and a goal of 15–25 diseases treated by 2030. The AI process cuts screening time from 100 days to about 17 hours, evaluating roughly 4,000 drugs against 18,000 diseases (about 75 million matches) before a medical team selects candidates for lab work and trials costing roughly $3–7 million per drug. A recent success example is Bachmann-Bupp syndrome, where an old drug produced meaningful improvements in five of six treated patients. Fajgenbaum stresses repurposing complements novel drug development, though patent life, manufacturing, FDA/insurance hurdles, and off-label prescribing shape the path to patient access.

via CNBC|
#ai#biotech#drug-repurposing
Grand Canyon trip uncovers a rare syndrome after arthritis misdiagnosis
health1 month ago

Grand Canyon trip uncovers a rare syndrome after arthritis misdiagnosis

A healthy 55-year-old man developed neck and foot stiffness during a two‑week Grand Canyon rafting trip, followed by painful swelling in his shoulders and hands after returning home, leading doctors to misdiagnose his condition as arthritis. Subtle clues eventually revealed a rare syndrome, illustrating how early symptoms can mislead clinicians and delay a correct diagnosis in medicine.

via The Washington Post|
#arthritis#diagnosis-and-treatment#health
Brighton doctor launches AI-powered charity to repurpose drugs for ultra-rare brain disorder
health1 month ago

Brighton doctor launches AI-powered charity to repurpose drugs for ultra-rare brain disorder

A Brighton emergency physician, Prof Rob Galloway, launches Rare People - The Research Charity after his daughter Frankie is diagnosed with the ultra-rare DeSanto Shinawi syndrome. The charity will fund clinical trials of repurposed medicines identified by artificial intelligence to treat rare genetic brain disorders, inspired by Mayo Clinic cell studies suggesting possible benefit from an epilepsy drug. The aim is to include UK children in trials and, eventually, expand to adults, with support from Brighton & Hove Albion FC at the launch.

via BBC|
#ai-in-medicine#clinical-trials#drug-repurposing
Situs inversus: understanding Catherine O’Hara’s mirrored anatomy
health2 months ago

Situs inversus: understanding Catherine O’Hara’s mirrored anatomy

The Washington Post WellBeing piece explains situs inversus, a rare condition in which internal organs are mirrored from their usual positions. Catherine O’Hara was born with it, a condition sometimes manifested as dextrocardia (the heart on the right side). For most people with situs inversus, there are few or no symptoms and the condition is often discovered incidentally, with health implications varying depending on any associated anomalies.

via The Washington Post|
#dextrocardia#diagnosis-and-treatment#diseases-and-conditions
Gene therapies promise cures, but getting them to patients remains a bottleneck
health2 months ago

Gene therapies promise cures, but getting them to patients remains a bottleneck

Gene therapies are moving from trials toward patient care, with breakthroughs like personalized CRISPR treatments and new gene-editing tools powering hope for many diseases; however, turning lab successes into approved, accessible medicines is hampered by regulatory, manufacturing, safety, and cost challenges, leaving access uneven despite progress.

via The Washington Post|
#biotechnology#clinical-trials#gene-therapy
BioMarin to Acquire Amicus for $4.8B, Boosting Rare Disease Leadership and Growth
business3 months ago

BioMarin to Acquire Amicus for $4.8B, Boosting Rare Disease Leadership and Growth

BioMarin is acquiring Amicus Therapeutics for $4.8 billion to expand its portfolio in rare disease treatments, including marketed products Galafold and Pombiliti + Opfolda, which generated $599 million in revenue over the past four quarters. The deal aims to accelerate revenue growth, diversify BioMarin's product offerings, and create shareholder value, with the transaction expected to close in Q2 2026 and be immediately accretive to earnings.

via BioMarin Pharmaceutical|
#acquisition#amicus-therapeutics#biomarin