Challenges and opportunities for discovering the biology of rare genetic diseases of the brain.

Abstract excerpt

Diseases of the human nervous system are an important cause of morbidity and mortality worldwide. These disorders arise out of multiple aetiologies of which rare genetic mutations in genes vital to nervous system development and function are an important cause. The diagnosis of such rare disorders is challenging due to the close overlap of clinical presentations with other diseases that are not of genetic origin....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biology
• Share to Brain
• Share to Mutation