Current Environment:

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 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.

Laboratory Projects:

  1. Juvenile Psychosis
  2. Dr. Brownstein is working in conjunction with the Developmental Neuropsychiatry Program to elucidate the genetic causes of psychosis in very young children.

  3. Orphan and Rare Diseases
  4. In conjunction in the Manton Center, Dr. Brownstein works on all areas of rare disease and has a particular interest in chronic pain and pain insensitivity disorders.

  5. VivilyThis unique initiative assesses real-time availability for functional experiments, allowing laboratories to maximize productivity and clinician scientists to minimize time and cost. Vivily aims to enable follow-up experiments on every patient VUS. Vivily is a partnership between GETTYLAB, the Innovation and Digital Health Accelerator, and the Molecular Genomics Core Facility.

Researcher | Research Background

Dr. Brownstein is an Assistant Professor of Pediatrics at Harvard Medical School, a Research Associate in Genetics and Genomics at Boston Children’s Hospital, and the Assistant Director of the Molecular Genomics Core Facility. Dr. Brownstein has over 10 years of experience in genetics and toxicology, specializing in gene discovery. Before joining BCH in 2011 Dr. Brownstein worked as a toxicologist for the Massachusetts Department of Public Health, and at various startups in Health 2.0.

Selected Publications

  1. Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, et al. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec;56(12):678-82. PMCID: PMC3902017
  2. Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53. PMCID: PMC4073084
  3. Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, et al. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5).
  4. Brownstein CA, Beggs AH, Rodan L, et al. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2015 Sep 22. PMID: 26395884
  5. Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, et al. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May;170A(5):1165-73.


Researcher | Publications