Alkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, ...

The fatty membrane surrounding every living cell is a vibrant environment where countless biological processes take place.

Ozzy Osbourne has been battling a rare form of Parkinson's Disease known as Parkin 2. In 2020, he disclosed to his fans that ...

Through policy framework shifts, appeals to the court for rare disease funds, and starting a centre in Bengaluru, Prasanna ...

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...

The early stage company is developing a new approach to gene editing to treat rare genetic diseases. It does this using mRNA, ...

Advocacy groups urge Health Ministry to intervene urgently in delayed funding for rare disease treatments, impacting patients ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...

A world-leading study screening up to 100,000 newborn babies in England for more than 200 rare genetic conditions has now ...

A teenager diagnosed with a rare genetic eye disease which means she will lose her eyesight is desperate to see the world ...