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 ...
STAT

Don’t let hope expire for children with rare diseases

Across America, millions of parents of children with rare diseases are in a race against time, hoping that new treatments will be developed fast enough to save their kids. Thanks to advances in ...
Business Wire

New Study Shows Impact of Ambry Genetics’ Patient for Life™ Program on Rare Disease Diagnosis

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...
The Boston Globe

‘That could be your family member’: Rare diseases affect 30 million Americans

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 ...
Napa Valley Register

A look at some key statistics on rare diseases in the U.S.

The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...
CNBC

From rare spinal disease to dancing, how one tiny patient is living a full life

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare diseases. Here are some of the stories we received. Living with a rare disease ...
New York Magazine

Did AI Alter the Course of This Baby’s Life?

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 ...
Medscape

World Health Assembly Adopts Rare Disease Resolution

The decision-making body of the World Health Organization (WHO) has adopted a resolution to establish a global framework to support the diagnosis and management of rare diseases and promote research ...
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 ...
Business Wire

Cure Rare Disease Receives Orphan Drug Designation from FDA for Investigational Therapy Targeting Spinocerebellar Ataxia Type 3 (SCA3)

WOODBRIDGE, Conn.--(BUSINESS WIRE)--Cure Rare Disease (CRD), a clinical-stage nonprofit biotechnology company developing genetic medicines for ultra-rare and rare conditions, today announced that the ...
FierceBiotech

Servier Sharpens Its Focus on Rare Neurology

Rare neurology is entering a pivotal moment. Scientific understanding is accelerating, new technologies are maturing, and the patient need remains profoundly unmet. As the biopharmaceutical community ...