Laurie Jean Ozelius, Ph.D.
|
Investigator, Assoc Prof (M) Neurology, Mass General Research Institute |
|
Associate Professor of Neurology Harvard Medical School |
|
Associate Member Broad Institute |
Research Narrative
Dr. Ozelius' research focuses on the genetics of movement disorders, and in particular identifying genes for dystonia and Parkinson disease (PD).
She has been involved in identifying the DYT1 (TOR1A), DYT6 (THAP1), DYT12 (ATP1A3), DYT25 (GNAL), DYT4 (TUBB4A) amd DYT3 (TAF1) dystonia genes.
She also identified a founder mutation in the LRRK2 gene that is responsible for 13% of PD among Ashkenazi Jewish (AJ) individuals and estimated the penetrance to be only 35%.
Her lab is currently working on finding genes involved in the penetrance of DYT1 dystonia and LRRK2 PD, defining the mutational and clinical spectrum associated with various dystonia genes, understanding the genetics of XDP (DYT3) and identifying novel genes and risk factors for later onset focal forms of dystonia and AJ PD using next generation sequencing of whole exomes and genomes, as well as genome-wide association studies.