معرفی
Dr. Catherine Brownstein is an Assistant Professor in the Department of Pediatrics at Harvard Medical School and a Research Associate in the Division of Genetics and Genomics at Boston Children's Hospital. She serves as the Scientific Director of the Gene Discovery Core at the Manton Center for Orphan Disease Research and as assistant director of the Molecular Genetics Core Facility, playing a pivotal role in advancing genetic research for rare and orphan diseases.
Her research interests center on the discovery of novel disease-causing genes, particularly in pediatric neurodevelopmental disorders, intellectual disability, sudden unexpected death in pediatrics, and interstitial cystitis. She utilizes cutting-edge genomic technologies including exome and genome sequencing, structural variation analysis, and bioinformatics to uncover the genetic underpinnings of rare conditions.
Dr. Brownstein's recent publications highlight a strong trend in integrating genomic data with clinical phenotyping, digital health tools, and ethical frameworks. Her work spans gene discovery, diagnostic yield improvement, and patient-centered genomic medicine, reflecting a multidisciplinary approach that bridges basic science, clinical application, and patient advocacy.
- Scientific Director, Manton Center for Orphan Disease Research Gene Discovery Core
- Assistant Director, Molecular Genetics Core Facility, Boston Children's Hospital
- Active contributor to initiatives in data sharing, pharmacogenomics, and precision diagnosis
She has been instrumental in elucidating the genetic basis of conditions such as nemaline myopathy, hypophosphatemic rickets, and very early onset psychosis. Her leadership in core facilities supports numerous investigators in achieving their research goals, and she is actively involved in enhancing access to genetic medicine through innovative platforms and outreach.
