Kerala doctors successfully performed a life-saving liver transplant on a two-and-a-half-year-old child diagnosed with the ...

Inspired by his father, Grandview High School student Josue Clara started a nonprofit called Beyond Rare to build awareness ...

Rare growth disorders are a diverse group of uncommon conditions that affect an individual’s physical development. They may stem from genetic mutations, hormonal imbalances, or other complex factors.

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy, to the federal newborn screening list to enable ...

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 ...

Gene editing has the potential to cure thousands of people suffering from devastating rare diseases. But the Nobel Prize-winning technology faces a basic math problem: It’s not profitable to spend ...

More than 500 European patients with previously undiagnosed rare disorders received a genetic diagnosis through research carried out by an extensive European collaboration, the Solve-Rare Diseases ...

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 ...

Scientists and clinicians reported advances that addressed conditions once thought irreversible, from congenital deafness and ...

Amongst the political shockwaves that have to date characterized President Donald Trump’s first few weeks back in the Oval Office, it is likely to be the proposed changes to medical research funding ...

BioMarin is acquiring Amicus Therapeutics for $4.8 billion, merging two rare disease-focused biotechs founded around the turn ...

When his infant son was diagnosed with a rare disease, a Canadian father was dismayed to discover there was no treatment or cure. So he set out to make one himself. Terry Pirovolakis, an IT director ...