Nancy Braverman

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I love working with children and their families because helping kids is like changing the world.

Hospital information

Academic appointments

Professor, Departments of Human Genetics and Pediatrics, McGill University

Associate member, Part-time, Department of Pathology, McGill University

Other appointments

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

Community Involvement

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

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

Fun fact about me

Genetic variation is the spice of life.

Research

Research interests

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.

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

Awards and distinctions

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

Selected publications

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]