Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

Rare neuromuscular diseases often lack treatments because developing targeted drugs is slow, costly and risky for companies.

GEORGETOWN COUNTY, SC (WMBF) - A Georgetown County teenager is preparing to head to Boston, Massachusetts, for a rare surgery to help treat two rare diseases. “He’s a true example to me,” mother ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

When our son Peter was diagnosed with an ultra-rare form of muscular dystrophy at the age of 10, the first question we asked was: Is there a treatment? The answer was no. By the time our daughter ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Ultragenyx’s Rare Bootcamp gives families a roadmap to help drive research and develop new treatments for rare diseases.

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 ...

As the grandfather of a girl with a rare disease, I’ve learned that for families like ours, hope often comes not as a cure, but as a clinical trial: carefully designed but inevitably exclusive. My ...