Elucidating and Understanding the Genetic Basis of Movement Disorders. Elucidating and Understanding the Genetic Basis of Movement Disorders

The long-term goal of this research is to identify gene mutations and disease mechanisms underlying movement disorders (MDs) for a further integration of human genetic discoveries into health care and disease prevention. MDs are a group of diseases affecting movement that present significant challenges in diagnosis and treatment and are often associated with high financial and personal burdens for patients and their families. Moreover, many MD genes are now found mutated in multiple neurological diseases, suggesting that other unknown genetic or environmental factors might be implicated in the disease pathogenesis. Therefore, this research aims to identify all MD-associated genes and pathogenic mutations to further understand these complex and phenotypically heterogeneous MD conditions and to establish pathological brain networks underlying pathogenesis. In summary, this research will identify novel gene mutations and disease mechanisms, will result in... (for more see dbGaP study page.)