Rare As One, founded by pediatrician Priscilla Chan, wife of Meta CEO Mark Zuckerberg, has been giving grants to patients and ...

OpenAI’s o3 Deep Research model helped diagnose rare diseases in children after traditional methods failed ...

Some conditions are so rare that most people have never heard of them, yet for the families affected, they change everything.

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving treatments for rare blood disorders. She's an expert in Fanconi anemia, a genetic ...

This article was featured in New York’s One Great Story newsletter. Sign up here. The first nine days of Jorie Kraus’s life followed a pattern: problem, solution. Problem, solution. Problem: Jorie was ...

WASHINGTON — The Zika virus is putting a spotlight on a potentially devastating birth defect that until now has gotten little public attention. Regardless of whether the mosquito-borne virus really ...

HOUSTON – Starting June 1, 2026, all newborns in Texas will be screened for an additional rare genetic disorder as part of the state’s newborn screening program. The Texas Department of State Health ...

Research has shown early diagnosis and treatment of epilepsy disorders can improve outcomes. The question of when to administer treatment so it gets ahead of the disease, however, has remained ...

Rare blood disorder diagnosis at Mumbai's JJ Hospital enabled a 32-year-old woman from Jalna to safely deliver a healthy baby ...