PiN Faculty Member - Annapurna Poduri, PhD

Annapurna Poduri, PhD

Professor of Neurology

Boston Children's Hospital
CLS14074
3 Blackfan Circle
Boston, MA 02115
Tel: 617-919-8282
Email: annapurna.poduri@childrens.harvard.edu
Visit my lab page here.



My research program has a translational mission centered around the genetics of epilepsy. We recognize that epilepsy is a common condition with many causes and that people with epilepsy experience morbidity from seizures, neurodevelopmental and neuropsychiatric comorbidities, and increased risk of mortality. We are committed to identifying genetic causes locally and in collaboration with other groups, studying genes to understand mechanisms of epilepsy using cellular and animal models, and translating these discoveries to patients with epilepsy in the form of precision diagnosis today with the goal of precision therapy in the future. We pursue these goals through rigorous scientific research with strong potential for impact and public health relevance. Our human genetics studies include sequencing of DNA from patient with epilepsy and their family for coding and non-coding variants. We sequence DNA from a number of tissue sources, including brain tissue, which allows us to identify mosaic variants that resulted from post-zygotic mutation. We use the zebrafish system to model defects in neurodevelopment related to the genes discovered in humans—evaluating models for evidence of hyperexcitability and structural and behavioral defects. Suitable models are also evaluated to probe the specific function of a given epilepsy-related gene and to screen candidate compounds that might modify their phenotypes.



Last Update: 3/22/2021



Publications

For a complete listing of publications click here.

 


 



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