Nancy Braverman, MD, M.Sc., FACMG, Medical Geneticist

Medical Genetics; Peroxisome Disease Laboratory

Hospital information

Academic appointments 

Associate Professor of Human Genetics and Pediatrics, McGill University

Other appointments 

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

Community Involvement 

Medical Advisory Board, RhizoKids Foundation; Medical Advisory Board, The Global Foundation for Peroxisome Disorders

Education

University 

B.Sc. Microbiology, Cornell University, Ithaca, NY; M.Sc.Genetic Counselling, Sarah Lawrence College, Bronxville, NY

Medical Degree 

Tulane University School of Medicine, New Orleans, Louisiana

Residency 

Pediatrics, Yale-New Haven Hospital, New Haven, Connecticut; Chief residency, Sinai Hospital of Baltimore, Baltimore, Maryland

Fellowship(s) 

Clinical and Biochemical Genetics, Johns Hopkins Medical Center, Baltimore, Maryland, US

Research

Research interests 

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.

Research foci 
  • Peroxisome biogenesis disorder
  • Gene structure and function
  • Genotype-phenotype correlations
  • Zellweger syndrome spectrum
  • Rhizomelic chondrodysplasia punctate
  • X-linked adrenoleukodystrophy
Keywords 

Peroxisome, animal models, metabolism, drug screening, translational research

Selected publications 

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.]

Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N. Functional characterization of novel mutations in GNPAT and AGPS, causing Rhizomelic Chondrodysplasia Punctata (RCDP) types 2 and 3. Hum Mutat 11 Oct 2011. [Epub ahead of print. doi: 10.1002/humu.21623]
 
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Review.
 
Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE. A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Med Genet 13:72, 2012 Aug 15. [doi: 10.1186/1471-2350-13-72]
 
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. Genet Med 2013 Mar 7. [Epub ahead of print. doi: 10.1038/gim.2013.13]
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