Nancy Braverman, MD, M.Sc., FACMG, Medical Geneticist
Genetic variation is the spice of life.
Professor, Departments of Human Genetics and Pediatrics, McGill University
Associate member, Part-time, Department of Pathology, McGill University
Attending Physician, Montreal Children's Hospital, Montreal General Hospital and Royal Victoria Hospital
Council of Physicians, Dentists and Pharmacists, MCH
Senior Scientist, Child Health and Human Development Axis, Research Institute of the MUHC
Chair, ClinGen Expert Panel on Variant Curation in Peroxisome Disorders, National Institutes of Health
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 inherited disorders caused by defects in the genes responsible for proper assembly and function of peroxisomes, organelle components of all body cells that help to metabolize important lipids, or fats. Peroxisomal disorders result in the loss of enzymes required by the body to metabolize these fats. The consequences are progressive multi-system diseases causing various combinations of intellectual disability, vision and hearing loss, liver dysfunction, kidney stones, adrenal insufficiency and osteopenia.
My laboratory engineers mouse models of these disorders to investigate how these enzyme defects cause disease. We also identify candidate therapies and perform pre-clinical trials in our mouse models. We are currently working on drug and gene therapies and have a program on retinal gene therapy. To provide patients and their families with better prognostic information and care, we have established a longitudinal natural history study documenting variations in disease outcomes. We assist in the diagnosis of patients whose disease is atypical.
- 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
2018 Pfizer Research Award of Excellence- Recognition of Outstanding Contribution to the Children’s Hospital, Montreal Children’s Hospital Foundation
2018 Teaching Award (Research category), Recognition of Outstanding Contribution in Teaching, Supervision and Mentorship of Students,
Department of Human Genetics, McGill University
2017 Commitment to Excellence Award for individuals with Peroxisome Biogenesis Disorders, Global Foundation for Peroxisomal Disorders
2017 Commitment to Excellence Award for individuals with Rhizomelic Chondrodysplasia Punctata, RhizoKids International Foundation
Bose M, Yergeau C, D'Souza Y, Cuthbertson DD, Lopez MJ, Smolen AK, Braverman NE. Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review. Cells. 2022 Jun 10;11(12). doi: 10.3390/cells11121891. Review. PubMed PMID: 35741019; PubMed Central PMCID: PMC9221082.
Cruz Marino T, Tardif J, Leblanc J, Lavoie J, Morin P, Harvey M, Thomas MJ, Pratte A, Braverman N. First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population. Hum Genet. 2022 Apr;141(3-4):607-622. doi: 10.1007/s00439-021-02332-w. Epub 2021 Aug 13. PubMed PMID: 34387732.
Cheung A, Argyriou C, Yergeau C, D'Souza Y, Riou É, Lévesque S, Raymond G, Daba M, Rtskhiladze I, Tkemaladze T, Adang L, La Piana R, Bernard G, Braverman N. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. Neurogenetics. 2022 Apr;23(2):115-127. doi: 10.1007/s10048-022-00684-7. Epub 2022 Feb 2. PubMed PMID: 35106698.
Lee J, Yergeau C, Kawai K, Braverman N, Géléoc GSG. A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum. Ear Hear. 2022 Mar/Apr;43(2):582-591. doi: 10.1097/AUD.0000000000001126. PubMed PMID: 34534157; PubMed Central PMCID: PMC8881323.Argyriou C, Polosa A, Song JY, Omri S, Steele B, Cécyre B, McDougald DS, Di Pietro E, Bouchard JF, Bennett J, Hacia JG, Lachapelle P, Braverman NE. AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder. Mol Ther Methods Clin Dev. 2021 Dec 10;23:225-240. doi: 10.1016/j.omtm.2021.09.002. eCollection 2021 Dec 10. PubMed PMID: 34703844; PubMed Central PMCID: PMC8516995.
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]