Summer McKesson’s quest for answers to her medical condition would unearth a family secret – and a doctor’s decades-old ...

Boston Children's Hospital has received $8.1M in NIH funding to support and expand the Spastic Paraplegia Centers of ...

What if a single test could simultaneously contribute to the diagnosis, characterization, and treatment guidance of childhood ...

A man with neurofibromas who didn't know he's been clinically diagnosed with NF1, learns he harbors a deeply intronic, likely ...

Researchers discovered that a longevity gene from centenarians can reverse heart damage linked to progeria, suggesting a new approach to treating rapid and age-related heart aging. A major advancement ...

New research reveals that one in 50 sperm samples from healthy men in their early 30s carries disease-causing mutations.

Boston researchers sequenced a full human genome in record time, under four hours. The advance could speed life-saving diagnoses for newborns in intensive care. Boston Children’s Hospital, in ...

People with autism may benefit from support in areas such as social skills, speech and language, occupational and vocational therapy, education and school-based services and management of co-occurring ...

DNA within dried feces dating from more than 1,000 years ago provides valuable insights into the pathogens that plagued ...

In a breakthrough that redefines both speed and clinical potential, a new world record for the fastest human whole genome ...

Dunlap 8-year-old Luke Johnston is battling a rare genetic disorder. On Oct. 25, he'll be Iowa football's honorary Kid Captain.

When six infants around the world were diagnosed with an odd trio of symptoms (diabetes, epilepsy, and abnormally small heads ...