This year, gene-editing technology was customized to fix mutations in a single patient’s genes for the first time.

As the FDA unveils a parade of initiatives aimed at accelerating drug development for rare diseases, experts appeal for a ...

Amber Freed tells PEOPLE how she worked for years to find a treatment for her son Maxwell's SLC6A1 diagnosis, and finally got the treatment administered in September, making history in the process.

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

For the first time, doctors have treated an infant with a rare genetic disease with a gene-editing therapy tailored specifically to the mutation he carries. KJ Muldoon was diagnosed with severe ...

The decision-making body of the World Health Organization (WHO) has adopted a resolution to establish a global framework to support the diagnosis and management of rare diseases and promote research ...

Treating rare neurological diseases in children is a difficult, sometimes gut-wrenching process with no guarantees, but a ...

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...