My infant son died of a rare disorder — I wish his doctors had run this cheap test sooner

"It was a very big wake-up call," Jordan Kruse told The Post. "Life was structured a lot differently than what we expected it ...

Exclusive: US FDA cleared pricey rare disease drug over reviewer objections

The FDA approved the drug for Barth syndrome despite findings by its data reviewers that the treatment, while safe, was no ...

Uncovering FSGS, the Rare Kidney Disease That Starts With a Silent Clue

In FSGS, podocytes are damaged, like a net with torn holes, allowing protein to leak into the urine, creating a harmful ...

‘Welcome Home Angel’: Family gets life-changing home renovation for daughter with rare disorder

A 15-year-old girl with a rare chromosome disorder received a complete room renovation Friday that her family says will ...
Healio

FDA approves Kygevvi for rare mitochondrial disorder

The FDA has approved a combination of doxecitine and doxribtimine to treat patients with thymidine kinase 2 deficiency for ...

Malaysia leads Asean on rare diseases

SEPANG: Malaysia will lead efforts for a South-East Asia Declaration and Action Plan on Rare Diseases to improve diagnosis, ...
News-Medical.Net on MSN

Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical ...
Ophthalmology Times

PolyActiva and RareSight partner to develop treatments for rare pediatric retinal diseases

PolyActiva and RareSight collaborate to create innovative therapies for rare pediatric retinal diseases, aiming to transform ...
Medscape

Efgartigimod Promising for Rare Pediatric Disease With Few Treatment Options

Early data from the ADAPT JR trial suggest efgartigimod may benefit adolescents with generalized myasthenia gravis, a rare ...

US FDA places clinical hold on Tenaya gene therapy trial for rare heart disease

Tenaya Therapeutics said on Friday the U. Food and Drug Administration has ​placed a clinical hold on its trial of an ...
Open Access Government

MHRA to fast-track rare disease treatments in major reform

Explore recent changes in rare disease treatments regulation. Discover how these reforms aim to enhance patient access in the UK ...
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 ...