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 ...

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

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 ...

When Casey McPherson became a father, his purpose became clear. He needed to raise his daughter, Rose, to be loving, courageous, healthy and strong. He needed to protect her. Many parents can ...

VHL, a genetic cancer condition, recently was featured on "Grey's Anatomy." Feb. 10, 2011 — -- In a multi-episode arc on "Grey's Anatomy," actor Scott Foley plays a von Hippel-Lindau (VHL) ...