Rare Diseases

Ultra-rare genetic disorder where muscles and connective tissue progressively turn to bone. No treatment or cure.

Extremely rare genetic condition causing rapid aging in children. Average lifespan is 14 years. Only ~400 cases known worldwide.

Rare genetic disorder causing progressive muscle weakness. Enzyme replacement is available but costs $300K+/year and has limited effectiveness.

Genetic disorder causing fat buildup in organs. Enzyme replacement therapy exists but costs $200K-$400K per year.

Inherited metabolic disorder where the body cannot break down phenylalanine. Untreated, causes intellectual disability.

Genetic neuromuscular disorder causing muscle weakness and atrophy. Leading genetic cause of infant death. Gene therapy exists but costs $2.1M per dose.

Genetic disorder causing thick mucus buildup in lungs and digestive system. Life expectancy has improved but treatments cost $300K+/year.