Project MinE, an international consortium co-founded by researchers at King's College London, has identified new genetic ...

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

New research establishes an identifiable genetic component to motor neuron disease for 1 in 4 people with the disease; a ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

Please provide your email address to receive an email when new articles are posted on . Children with five genetic causes of short stature had height velocity increases of 3 cm or more with vosoritide ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

Chorea-acanthocytosis is a rare genetic disorder of the nervous system. It causes involuntary jerks and twitches in the muscles, known as chorea, and star-shaped red blood cells, known as ...