rare genetic disorders Archives

New discovery prevents symptoms of rare genetic disorder

A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science.
The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science profe…

Gene scan finds link across array of childhood brain disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through w…