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

Parents of children with rare diseases ask: How long until our CRISPR miracle?

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...
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 ...
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 ...
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 ...
Hosted 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, correctly identifying diagnoses more often than doctors in a direct ...
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 ...
MyCentralJersey

This internationally recognized NJ doctor is on the frontlines battling rare diseases

Rare Disease Day raises awareness for the thousands of rare diseases affecting millions. Advancements in technology, such as gene therapy, offer hope for potential cures for rare diseases in the ...