Many rare disease patients do not receive a formal genetic diagnosis, but a European data-sharing project aimed to give them ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering ...

A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at ...

Instead, Stealth submitted a new drug application seeking approval of elamipretide, and the FDA issued its refusal-to-file ...

Hypertrophic cardiomyopathy is a genetic disease that causes the heart muscle to become thicker, making it harder for the ...

The researchers are now in the process of recruiting 300 patients with a range of different genetic disorders to participate ...

Image credit: cottonbro studioResearchers from the University of Melbourne and Murdoch Children's Research Institute (MCRI) ...

Explore 5 rare genetic and neurological disorders named after pioneering women in medicine, highlighting their significant ...

The centres in Coimbatore and Madurai are expected to be fully functional in the coming months. Once operational, they will ...

Chennai: In a move to tackle the growing burden of genetic disorders in Tamil Nadu, the State Health Department, in ...