STATOpinion

I’m a rare disease mom, and I finally have new hope for my son’s future

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...
Morning Overview on MSN

DeepRare AI beats doctors in rare disease diagnosis test

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, ...
The Next Web

How an AI system beat experienced doctors at diagnosing rare diseases

DeepRare AI system outperforms doctors at diagnosing rare diseases with 64.4% accuracy on first attempt. Find more about the ...
AOL

42 Rare Diseases That Sound Like A Science Fiction Plot But Are 100% Real

There’s a good chance that you haven’t heard about a rare condition called chromhidrosis. In a nutshell, the person afflicted with the disease produces colored sweat, from yellow to green, even red ...
University of California

From Rett and Pitt-Hopkins to ALS: 5 rare diseases UC San Diego researchers are tackling in the lab

Researchers at the Sanford Stem Cell Institute have taken the fight against rare diseases to the lab, to patients’ bedsides ...
MM&M

Rare disease patients, caregivers are at odds over health information

Rare diseases are complicated and communicating reliable, accessible health information around them can be even more complicated. Some conditions like RPI deficiency or Aicardi syndrome affect less ...
The Lancet

Language in rare disease: a call for systemic and empathetic action

Globally, an estimated 300 million people live with a rare disease. They typically experience isolation, diagnostic difficulties, lack of therapies, fragmented care, stigma, a struggle for recognition ...

Rare disease isn’t rare—it’s a healthcare blind spot

In medicine, “rare” is often used to describe conditions that affect relatively few people. But when you work in healthcare long enough—especially at the very beginning of life—you realize rare ...
wjla

Committee that selects which rare diseases are tested at birth dissolved amid HHS cuts

WASHINGTON (7News) — Reporter's Notebook: Every year, thousands of infants in America are diagnosed with devastating genetic diseases through newborn screenings. The encouraging news is that many of ...
Office of Health Economics

Global rare‑disease policy shifts: what are the implications for equitable access to orphan medicines?

Global rare disease policy shifts are reshaping orphan drug development, with major implications for equitable access in the UK, EU and US.
MLive

2 rare diseases added to newborn screening guidelines

U.S. health officials have added two deadly rare diseases to the list of conditions the government recommends states screen newborns for. Health Secretary Robert F. Kennedy, Jr. announced Tuesday that ...