Stecker is a rare disease mother and advocate and served as assistant secretary of public affairs and deputy chief of staff at the Department of Health and Human Services. Every parent dreams of a ...

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases collectively impact millions of Americans, creating a healthcare system that’s ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

One in 10 Americans suffers from a rare disease, a statistic that casts the label “rare” in new light. It also drives the work of the National Organization for Rare Disorders, a coalition of patient ...

As the grandfather of a girl with a rare disease, I’ve learned that for families like ours, hope often comes not as a cure, but as a clinical trial: carefully designed but inevitably exclusive. My ...

He ran a myriad of tests including extensive bloodwork that checked for the rare Jo-1 antibody. When it can back positive, ...

A new AI-driven diagnostic framework combines clinical, genetic, and phenotypic data to help shorten the rare disease diagnostic journey while providing transparent, evidence-based reasoning for ...

Rare disease families are increasingly driving research efforts to find treatments for their children. Ultragenyx’s Rare Bootcamp gives advocates a roadmap for navigating drug development. The program ...

The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive advocate for the development of rare-disease drugs. When I joined the FDA to be ...

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, correctly identifying diagnoses more often than doctors in a direct ...