For decades, newborn screening has relied on a heel-prick blood test that identifies a limited number of serious conditions ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases collectively impact millions of Americans, creating a healthcare system that’s ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

One in 10 Americans suffers from a rare disease, a statistic that casts the label “rare” in new light. It also drives the work of the National Organization for Rare Disorders, a coalition of patient ...

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 ...

Frost & Sullivan, a global consulting and market research firm, has forecast that China's rare disease drug market will ...

It is well known within the biopharma industry that clinical studies can produce any number of unexpected and possibly disappointing outcomes, including false negative results, or in statistical ...

A Travis County family is racing to raise $3 million to develop a one-of-a-kind treatment for their baby, who has an ...

The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive advocate for the development of rare-disease drugs. When I joined the FDA to be ...

An activist says a hospital in Indonesia turned itself into a hub for rare diseases within two years despite problems such as ...