American Journal of Human Genetics

Gene mutations shown to cause form of HSP

Scientists at the Montreal Neurological Institute and Hospital (MNI) have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a step forward in efforts to treat this debilitating disease.

May 10, 2016
popularity98 comments 0

Discover the Genetic Cause for Intellectual disability

A research group led by Osaka University and collaborative institutions discovered that disorders in the same gene PIGG are the cause for intellectual disability with seizures and hypotonia. PIGG is one of the enzymes active ...

Apr 22, 2016
popularity0 comments 0

New neurodevelopmental syndrome identified

A multicenter research team led by Columbia University Medical Center (CUMC) has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted ...

Apr 21, 2016
popularity35 comments 0