Nancy Braverman, MD, M.Sc., FACMG, Medical Geneticist
Associate Professor of Human Genetics and Pediatrics, McGill University
Attending Physician, Montreal Children's Hospital, Montreal General Hospital and Royal Victoria Hospital
MCH Fellowship Training Committee; Research Institute of the MUHC Canadian Residency Selection (CaRMS) Committee; Council of Physicians, Dentists and Pharmacists, MCH
National Institutes of Health (NIH) Therapeutics and Genetics Review Board
New Curriculum Committee for McGill University Medical Student Education
Medical Advisory Board, RhizoKids Foundation; Medical Advisory Board, The Global Foundation for Peroxisome Disorders
B.Sc. Microbiology, Cornell University, Ithaca, NY; M.Sc.Genetic Counselling, Sarah Lawrence College, Bronxville, NY
Tulane University School of Medicine, New Orleans, Louisiana
Pediatrics, Yale-New Haven Hospital, New Haven, Connecticut; Chief residency, Sinai Hospital of Baltimore, Baltimore, Maryland
Clinical and Biochemical Genetics, Johns Hopkins Medical Center, Baltimore, Maryland, US
I study a group of inherited disorders caused by defects in the genes responsible for the proper function of peroxisomes, important components of cells that help to metabolize lipids, or fatty acids.
Peroxisomal disorders can involve either the assembly of the peroxisome itself (as in peroxisome biogenesis disorders), or specific enzymes located in the peroxisome. All of these conditions feature the loss of enzymes required by the body to metabolize important lipids. The consequences are a progressive disease of the nervous system, eye, hearing, bone, liver, kidney and adrenal glands.
My laboratory engineers mouse models of the disorders to investigate how these enzyme defects cause disease. To provide patients and their families with better prognostic information and care, the laboratory has established a patient registry documenting variations in disease outcome and is identifying drugs and therapies that can improve outcomes. The clinical trial of one drug is underway.
- Peroxisome biogenesis disorder
- Gene structure and function
- Genotype-phenotype correlations
- Zellweger syndrome spectrum
- Rhizomelic chondrodysplasia punctate
- X-linked adrenoleukodystrophy
Peroxisome, animal models, metabolism, drug screening, translational research
Alfares A, Dempsey Nunez L, Al-Thihli K, Mitchell J, Melancon S, Anastasio N, C H Ha K, Majewski J, Rosenblatt DS, and Braverman N. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet 48(9):602-5, 2011 Sep. [doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.]