Microcephaly Press Releases

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 whole exome sequencing – a new gene scanning technology that cuts the cost and time of searching for rare mutations.

A new study shows that elevated concentrations of proteins present at birth in the blood may be associated with the development of autism and mental retardation later in childhood. The identification of a biological marker early in life and before the onset of symptoms could lead to earlier and more definitive diagnoses, better clinical definitions, and the discovery of interventional therapies for the disorders.
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