When a child’s symptoms stump one specialist after another for years on end, families describe the experience as grueling and ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

Rare diseases are complicated and communicating reliable, accessible health information around them can be even more complicated. Some conditions like RPI deficiency or Aicardi syndrome affect less ...

There’s a good chance that you haven’t heard about a rare condition called chromhidrosis. In a nutshell, the person afflicted with the disease produces colored sweat, from yellow to green, even red ...

Odds are, most people have probably met someone with a rare disease — or even has one themself. While each condition on its own might be uncommon, altogether there are about 25-30 million people in ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

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 ...

WASHINGTON (7News) — Reporter's Notebook: Every year, thousands of infants in America are diagnosed with devastating genetic diseases through newborn screenings. The encouraging news is that many of ...

In 1983, the population of the United States was approximately 233 million people. More than 30 years later, the US population is now closer to 313 million-an increase of 82 million people. But while ...

Jeanette Henriquez, on the left, stands with her two children, Jasmine Henriquez and Dominic Henriquez. Dominic Henriquez was diagnosed with Hunter Syndrome in 2011 before the condition was added to ...