Neurology
Dr. Sharma's laboratory studies the way in which the DYT1 mutation, which is the most common cause of early-onset generalized dystonia, results in the development of dystonia.
Summary of Research
My laboratory uses mice as a model system for studying the way in which the DYT1 mutation causes dystonia. Previously, we have generated and characterized a transgenic mouse model of DYT1 dystonia, which has some similarities to humans with the DYT1 mutation. By recapitulating some aspects of the human condition in mice, we can then study the mice further in order to understand the way in which the DYT1 mutation causes dystonia at the cellular level.
In addition, we work with collaborators at other institutions to understand the extent to which genetics affects one's chances of developing dystonia. Toward that aim, we systematically examine those persons with dystonia who are willing to participate in a study that also involves taking a blood sample in order to extract and analyze the DNA.
Ongoing Projects
- The use of viral vectors to generate animals with the DYT1 mutation in specific brain regions.
- Analysis of the neurotransmitter defects in animals with the DYT1 mutation.
- Clinical evaluation of individuals with dystonia in order to understand how genes affect dystonia.
Contact information
Phone: 617-724-9234
