Vanda Gets Rare Pediatric Disease Designation for Neurological Disorder Therapy

The FDA determined the condition qualifies as a rare pediatric disease because it is a serious disorder that primarily affects patients from birth through age 18, Vanda said. The ...

Vertex to buy Crinetics for $10 billion in rare-diseases push

By Puyaan Singh July 6 (Reuters) - Vertex Pharmaceuticals will buy Crinetics Pharmaceuticals for a total equity value of ...

5-year-old metro boy’s fight against rare disease

A local Oklahoma boy remains hopeful that specialists across the country can help find a cure for his rare disease.

Chan Zuckerberg Initiative's Biohub to open new rare disease funding round

Chan Zuckerberg Initiative's Biohub will offer new grants to the rare disease community while expanding its AI drug ...

National rare disease registry may improve care for patients

In Sweden, more than 500,000 individuals live with a rare condition. Globally, approximately 7,000 distinct rare diseases ...
STAT

Curing rare childhood diseases will falter unless Congress steps up

When our son Peter was diagnosed with an ultra-rare form of muscular dystrophy at the age of 10, the first question we asked was: Is there a treatment? The answer was no. By the time our daughter ...
The University of Texas at Arlington

UTA rethinks Ph.D. training in rare disease

Dennis Lal, executive director of the Center for Innovation in Health Informatics, speaks at Rare Disease Family Foundations Symposium. (UTA Photo) The University of Texas at Arlington is creating a ...
Business Wire

Chiesi Global Rare Diseases Awards Research Grants to Advance Innovation in Lysosomal Diseases

The selected projects demonstrated significant potential to address unmet needs within these rare communities. The recipients include: Fabry disease: Mitra Tavakoli, University of Exeter, Exeter, UK, ...
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 ...
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 ...
Rolling Out

How AI is revolutionizing rare disease diagnosis

The seven-year medical odyssey that once defined rare disease diagnosis is being rewritten by algorithms capable of identifying medical zebras in the time it takes to refresh your social media feed.

Genomic tool highly effective at detecting rare disease diagnoses

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently and automatically ...