Proceedings of the National Academy of Sciences

Insights into a rare genetic disease

Recently, a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene. In a big ...

Jan 19, 2015
popularity 44 comments 0

New genetic clues found in fragile X syndrome

Scientists have gained new insight into fragile X syndrome—the most common cause of inherited intellectual disability—by studying the case of a person without the disorder, but with two of its classic ...

Jan 16, 2015
popularity 139 comments 0