Major breakthrough in treatment for ultra-rare 'second skeleton' disease - Patients grow extra bones where they don’t belong, ...

QUINCY, Mass., Oct. 1, 2026 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®), the leading national nonprofit serving more than 30 million Americans with rare diseases, announced ...

The tailored framework arrives amid renewed focus on rare diseases across US health agencies.

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently and automatically ...

Medicine is entering a new era of breakthrough science, with innovations once considered out of reach now becoming reality. Researchers are developing therapies that target diseases in entirely new ...

For families affected by rare diseases, unexplained developmental delays or medical symptoms often mark the beginning of a “diagnostic odyssey,” a frustrating search for answers and treatment options.

BioMarin, Jazz Pharmaceuticals, and Otsuka CEOs to Join NORD CEO to Examine What it Takes to Turn Scientific Advancements into Patient Progress Moderated by Quick, "Next Decade of Rare Disease: A CEO ...

CAMBRIDGE, Mass. and BOSTON and BAR HARBOR, Maine, July 21, 2026 /PRNewswire/ -- Broad Institute, Boston Children's Hospital, and The Jackson Laboratory today announced the Center for Therapeutic ...

Explore advancements in disease detection using artificial intelligence to diagnose rare genetic disorders in children faster ...

The gains of scientific advancements in treatment are shadowed by the cuts coming in Medicaid coverage at rare disease fair.