Exclusive: One in four wait at least three years for diagnosis and many face treatment ‘access lottery’, according to report ...
In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.
A rare inherited neurodevelopmental disorder has been officially named after an Abu Dhabi-based geneticist at Burjeel Medical ...
"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...
Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same ...
In a landmark discovery, researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases.
An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...
A rare genetic disease that causes loss of mobility, speech, and can shorten life in First Nations communities has received $9.3 million in national research funding to help find a cure.
HOSPITAL staff have been told by officials to stop discouraging first-cousin marriages despite the increased risk of birth ...
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