Little did fans know that he’s had to navigate his career carefully due to an incredibly rare genetic disease, which also has affected how he approaches his performance-enhancing drug protocols. “This ...

Cherokees deserve help, treatment and hope – especially those who’ve long felt unseen by the health care system due to their ...

Aaryan Gangar, 11, has successfully overcome a life-threatening ailment of severe rectal bleeding caused by Hermansky-Pudlak ...

Ibuprofen counters problems caused by mutations in the MAN1B1 gene, fruit fly tests show. Early results in three children are ”fairly positive.” ...

The Hamilton scientists were able to map a CWD prion, the misfolded protein that causes the deadly brain disease, to the near-atomic level.

For many people, filling out paperwork about their family's health history is a routine part of a medical visit. For adopted people like Ramya Gruneisen, it's impossible.

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for ...

Screening newborn babies for these rare diseases involves sequencing their ... This might include certain cancers, heart disease or dementia. But it might also raise ethical questions about ...

The Cherokee Nation is hosting a Rare Disease Summit Nov. 21 to address the unique challenges facing tribal citizens with rare medical conditions. The event, organized by Cherokee Nation Health ...

Nearly a quarter of patients with hidradenitis suppurativa (HS) experienced concomitant eye disease, and among those who did ...

Roughly one out of every ten people in the United States are affected by rare diseases. Many of these conditions are life‑threatening, and most ...