The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient populations.

For a decade after its discovery, CRISPR gene editing was stuck on the cusp of transforming medicine. Then, in 2023, scientists started using it on sickle-cell disease, and Victoria Gray, a patient who lived with constant pain—like lightning inside her ...

KUALA LUMPUR, Malaysia, March 12, 2026 /PRNewswire/ -- As Malaysia commemorates National Rare Disease Day and marks the launch of the National Policy for Rare Diseases, long-term, sustainable care for individuals living with rare, complex genetic conditions is now gaining growing attention and interest from across public and private stakeholders.

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare genetic disorder that causes bone marrow failure and dramatically increases cancer risk. The findings, published in Science Advances ...

Every new discovery in genetics brings scientists one step closer to understanding complex conditions and improving the lives of those affected. Learn how MIRAGE syndrome was discovered in 2016 through genetic sequencing and why this rare SAMD9-related disorder is one of the rarest medical conditions in the world.

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is characterized by gastrointestinal polyposis and ...

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet for families affected by rare disease and disability ...