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 ...

Neurogene has a $903M market cap with two phase 1/2 assets, NGN-401 for Rett Syndrome and NGN-101 for CLN5 Batten Disease.

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

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 ...

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 ...

Patient engagement is a necessity when performing health technology assessment to help better assess and identify the outcomes of a rare disease.

Quoin Pharmaceuticals Ltd. (NASDAQ: QNRX) (the “Company” or “Quoin”), a clinical-stage, specialty pharmaceutical company focused on developing and commercializing novel treatments for rare and orphan ...