
معرفی
Nancy Braverman is an Associate Professor at McGill University, with appointments in the Departments of Human Genetics, Pediatrics, and Medicine. Her research focuses on inherited peroxisomal disorders, particularly the Zellweger Spectrum Disorder, using mouse models and clinical trials to explore disease mechanisms and therapeutic interventions.
- Education: BSc from Cornell University, Master in Human Genetics from Sarah Lawrence College, MD from Tulane University, Pediatric residency at Yale-New Haven Hospital, Fellowship in Clinical and Biochemical Genetics at Johns Hopkins.
- Contact: Email nancy.braverman@mcgill.ca, Phone: 514 934 1934.23404
Her work investigates how peroxisomal enzyme defects cause multi-systemic diseases affecting the nervous system, eyes, hearing, bones, liver, kidney, and adrenal glands. By engineering mouse models, her lab studies disease progression and develops drugs/therapies for improved patient outcomes. She leads a patient registry to document disease variability.
Recent publications highlight advancements in gene therapy for retinal function, variant curation standards via ClinGen panels, metabolomic biomarkers, and diagnostic modalities for peroxisomal disorders. Her articles emphasize translational approaches bridging biochemical research and clinical applications.
Nancy Braverman در سایتهای دیگر
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