Sciencing on MSN

Science explains the rare urine disease that turns your pee to 'syrup'

Your urine can tell you a lot about your health, but if your pee smells like maple syrup, you might want to get that checked ...

BrainStorm Cell Therapeutics Announces Publication Calling for Updated FDA Approaches to ALS, Rare Diseases and Regenerative Medicine

BrainStorm Cell Therapeutics Inc. (OTCQB: BCLI) today announced the publication of an article examining how regulatory ...
STAT

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

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 ...
Acsh.org

“Rare” but Not Uncommon: The Hidden Crisis of Rare Diseases

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 ...
News Medical

Why Rare Diseases Still Go Undiagnosed

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 ...

Austin family races to save baby with ultra-rare disease as scientists work on cure

A Travis County family is racing to raise $3 million to develop a one-of-a-kind treatment for their baby, who has an ...
American Lung Association

Misdiagnosed at 23: One Woman’s Journey with Rare Interstitial Lung Disease

He ran a myriad of tests including extensive bloodwork that checked for the rare Jo-1 antibody. When it can back positive, she was sent to a pulmonologist and rheumatologist who could finally give ...
STAT

My granddaughter has a rare disease. But clinical trials often exclude patients like her

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 ...
Opinion
The Journal RecordOpinion

Sisco: Don’t tie rare disease patients’ lives to the lowest price

Jill Sisco, president of Acromegaly Community, opposes the Most Favored Nation policy that would limit rare disease patients' access to innovative therapies.
Acsh.org

Rare Diseases Are Neglected. FDA Needs a Dedicated 'Center of Excellence for Rare Diseases'

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 ...