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 ...

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 ...

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 ...

Polaryx’s chief medical officer discusses the regulatory environment for rare, pediatric treatments and how it’s directly impacting clinical trials. Pharmaceutical Executive previously covered FDA’s ...

People living with a rare disease can wait months to years for a confirmed diagnosis after symptom onset, mainly due to low prevalence, lack of awareness of primary healthcare professionals, ...

Rare diseases, defined by low prevalence, collectively affect over 300 million people worldwide, representing a major public health and research challenge 1. These conditions are often characterised ...

CNBC Cures aims to help raise awareness of rare diseases and improve patient outcomes for people living with them. Led by "Squawk Box" anchor Becky Quick, the initiative was inspired by her family's ...

A cluster of Creutzfeldt Jakob disease cases have been reported out of Hood River County, Ore. The disease is caused by misfolded proteins, or prions, which are also the cause of a disease in deer ...

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 ...