This year’s Rare Disease Day event Feb. 27 at the Jacobs School of Medicine and Biomedical Sciences focused on updates in research and diagnostics, and advancements in treatment.

Nick Jonas lost his friend Maya Kibbel to Wilson's disease. Here is how the rare genetic disorder can manifest in the human body, along with the available treatment options.

A key US Republican senator said he’s launched an investigation into the Food and Drug Administration’s recent denials of ...

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

Torie Bosch is the First Opinion editor at STAT. Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome. Earlier this ...

Leigh syndrome is a rare metabolic disorder that begins in childhood and causes severe neurological and muscular problems. The disease has long been considered untreatable. In a pilot study involving ...

Ruthie Davi, vice president of statistics and regulatory innovation at Medidata, highlights the value of technology in rare ...

Spruce Biosciences has named Dale Hooks chief commercial officer, securing a leader with experience launching 21 products as the company heads toward a filing for its first FDA approval.

Inovio Pharmaceuticals has laid off staff and prioritized programs to focus on its lead rare disease candidate, which is ...

The U.S. Senate has a plan to improve drug development for rare disease patients. The exit of controversial CBER chief Vinay Prasad will help clear the path.

In today’s healthcare landscape, rare disease patients face uncertainty and challenges accessing necessary therapies due to policy changes that affect insurance coverage.

Globally, an estimated 300 million people live with a rare disease. They typically experience isolation, diagnostic difficulties, lack of therapies, fragmented care, stigma, a struggle for recognition ...