MassGeneral Institute for Neurodegenerative Disease

Translating today's discoveries into tomorrow's cures

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Ozelius, Laurie, PhD

Associate Professor of Neurology, Harvard Medical School
Associate Neuroscientist, Massachusetts General Hospital 

Office Phone:  617-724-2346
FAX: 617-643-7080
Lab Address: Building 114, 16th Street, Room 3200


Laurie Ozelius works to uncover genetic causes for movement disorders, especially dystonias and Parkinson’s disease. Dystonias are characterized by involuntary muscle contractions that lead to slow movements or abnormal postures. Dystonias can be localized, as in writers’ cramp or torticollis, or generalized, and they often run in families. In 1997, Ozelius and colleagues identified the first genetic cause for an isolated inherited dystonia, when they found mutations in the DYT1 (TOR1A) gene in patients with early onset isolated dystonia, a rare but severe form of generalized dystonia that begins in childhood. DYT1 dystonia showed incomplete penetrance—not everyone with the causative mutation developed dystonia—and Ozelius and her team went on to identify TOR1A variants associated with this reduced penetrance. Her work subsequently uncovered two additional genes for isolated dystonia (THAP1 and GNAL), and a gene for rapid onset dystonia parkinsonism (ATP1A3). The Ozelius laboratory also played a central role in identifying the G2019S LRRK2 gene mutation as a major cause of Parkinson’s disease in the Ashkenazi Jewish population. 

Ozelius collaborates with movement disorder clinicians worldwide to collect and characterize patients and families with various inherited dystonias and Parkinson’s disease. Her lab applies several genetic strategies, including genome-wide association studies and next-generation sequencing to identify new genes and risk factors involved in isolated dystonia and PD, and genes related to the penetrance of these disorders. Through collaborations, her group is also applying imaging and sensory testing measures to further define dystonia-associated phenotypes in patients and their at-risk relatives in hopes of further dissecting the genetic contributions to disease. Also with collaborators, she is developing and characterizing mouse models that may replicate the non-penetrant phenotype seen in humans. Her work is helping to clarify the underlying mechanisms and basic pathophysiology of dystonias and PD, providing a foundation for better diagnosis and effective treatments.


After earning a Bachelor’s degree in biology from Brown University in 1984, Laurie Ozelius went on to receive a PhD in Genetics from Harvard Medical School in 1994. She did her graduate and postdoctoral training in the lab of Xandra Breakefield, where she identified the TOR1A gene as a cause of hereditary dystonia. In 1998, Ozelius became an Assistant Professor at HMS, and then moved to the Albert Einstein College of Medicine in New York, where she rose to the rank of Associate Professor of Molecular Genetics.  In 2007 she became an Associate Professor in Genetics and Genomics Sciences and Neurology at Icahn School of Medicine at Mount Sinai in New York, where she also held the Bachmann Strauss Chair in Movement Disorders.  She returned to Boston in 2015, as an Associate Professor of Neurology at HMS and an Associate Neuroscientist at MGH.  Dr. Ozelius has received the President’s Award and the Distinguished Service Award from the Dystonia Medical Research Foundation, and has been appointed to countless scientific advisory boards including the National Tourette’s Syndrome Association and the Dystonia Medical Research Foundation.