null Nancy Braverman, MD, M.Sc.
genetic disorders • peroxisome diseases • mouse models • drug therapies • lipid metabolism
My research focuses on 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 cause 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.
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Click on to see my current publications list
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. 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. PMID: 35106698.
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. PMID: 34703844.
Fallatah W, Schouten M, Yergeau C, Di Pietro E, Engelen M, Waterham HR, Poll-The BT, Braverman N. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 2021 Jul;44(4):1021-1038. doi: 10.1002/jimd.12349. Epub 2021 Jan 26. PMID: 33337545.
MacLean GE, Argyriou C, Di Pietro E, Sun X, Birjandian S, Saberian P, Hacia JG, Braverman NE. Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids. J Cell Biochem. 2019 Mar;120(3):3243-3258. doi: 10.1002/jcb.27591. Epub 2018 Oct 26. PMID: 30362618.