Sanfilippo disease eventually leads to progressive damage to the brain ...

Leigh syndrome is a rare metabolic disorder that begins in childhood and causes severe neurological and muscular problems.

Gus and Emily Forrester say it's a 'race against time' to help their little girl, aged just two, after she was diagnosed with ...

Gus and Emily Forrester have spoken of their uphill battle to get treatment for their two-year-old girl after she was ...

Andelyn Biosciences Inc., a patient-focused cell and gene therapy Contract Development and Manufacturing Organization (CDMO), today announced the unveiling of The Andelyn Foundation, a nonprofit ...

Sildenafil – an active ingredient also marketed under the name of Viagra – improves symptoms in patients with Leigh syndrome. This has now been reported in the Cell* journal by researchers at Charité ...

For men and women suffering from medical conditions and diseases so rare they are practically unheard of, finding a cure – or ...

At 11 years old, Trey Taylor found out he was living with an extremely rare form of muscular dystrophy which came close to taking his life ...

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 ...

Approved dosing regimen reduces the burden for eligible patients, their families, and the broader healthcare system by extending infusion interval from every-two-weeks to every-four-weeks for those st ...

New Monash University-led research has, for the first time in Australia, found that children with an infection in the past 60 ...