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Researcher | Research Overview

Dr. Brownstein specializes in the discovery of new genes for rare and orphan diseases. She has put her background and training to use in projects with the Manton Center for Orphan Disease Research, the Developmental Neuropsychiatry Program, The Early Psychosis Investigation Center (EPICenter), The Tommy Fuss Center, and Robert’s Program in Sudden and Unexpected Death in Pediatrics. Her research has elucidated phosphate regulation and the genetic causes of intellectual disability. Dr. Brownstein is currently focusing on investigating the genetics of interstitial cystitis/bladder pain syndrome and increasing access to genetic medicine.

Researcher | Research Background

Dr. Brownstein is an Assistant Professor in Pediatrics at Harvard Medical School and a Research Associate in the Division of Genetics and Genomics at Boston Children's Hospital. As the Scientific Director for the Manton Center for Orphan Disease Research Gene Discovery Core, Dr. Brownstein has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, SIDS, and hypophosphatemic rickets. Her current work focuses on advancing the fields of genome sequencing and analysis, with an emphasis on identifying complex structural variation.

Dr. Brownstein is also the assistant director of the Molecular Genetics Core Facility, and is dedicated to assisting investigators in achieving their research goals.

Researcher | Publications