Nancy Braverman, M.D. M.Sc.
Associate Professor, Depts. of Human Genetics and Pediatrics
Research Focus: Peroxisome Diseases
We are studying the peroxisome biogenesis disorders (PBD), a heterogeneous group of inherited metabolic disorders associated with the failure to form functional peroxisomes. This results in multiple enzyme deficiencies and mutisystem, progressive diseases of childhood. Clinical features include bone, eye liver and kidney abnormalities, neuronal migration defects and mental retardation. The PBD provide a unique example of defects in biochemical pathways causing developmental abnormalities. These pathways are involved in complex lipid metabolism, for example, the committing steps of ether phospholipid synthesis, a specialized class of membrane lipids, are in the peroxisome. We study genotype-phenotype correlations in patients with these disorders. We have generated murine models to study the pathophysiology of one, PEX7 deficiency, which features loss of ether phospholipids. Finally, we have begun several cell-based projects to identify metabolic and molecular based therapies for these diseases.
MSc, Human Genetics, Sarah Lawrence College, 1981
MD, Medicine, Tulane University Scholl of Medicine, 1987
Peroxisome Biogenesis Disorders, Gene Structure and Function, Genotype-Phenotype Correlations, Animal Models, Metabolism, Drug Screening, Translational Research
- Zhang R, Chen L, Jiralerspong S, Snowden A, Steinberg S, Braverman N. Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds. Proc Natl Acad Sci U S A. 2010 Mar 23;107(12):5569-74. Epub 2010 Mar 8
- Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, Chaudhury R, Moser A, Steinberg S. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Mol Genet Metab. 2010 Apr;99(4):408-16. Epub 2009 Dec 11.
- Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S.J. and Valle, D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodyspla0sia punctata. Nat Genet, 15, 369-76, 1997
- N. Braverman, L. Chen, P. Lin, C. Obie, G. Steel, P. Douglas, P.K. Chakraborty, J.T.R. Clarke, A. Boneh, A. Moser, H. Moser, D. Valle Mutation Analysis Of Pex7 In 60 Probands With Rhizomelic Chondrodysplasia Punctata And Functional Correlations Of Genotype With Phenotype. Human Mutation 20:284-97, 2002
- S. Steinberg, L. Chen, L. Wei, A. Moser, H. Moser, G. Cutting, N. Braverman. The PEX Gene Screen: Molecular Diagnosis of Peroxisome Biogenesis Disorders in the Zellweger Syndrome Spectrum. Mol. Genet. Metab. Nov;83(3):252-63, 2004
- Steinberg S; Dodt G; Raymond G; Braverman N; Moser A; Moser H. Peroxisome Biogenesis Disorders. Biochim Biophys Acta. Dec;1763(12):1733-48, 2006
McGill University-Montreal Children’s Hospital Research Institute
phone 514 934 1934 ext 23404
FAX 514 412 4478 email: Dr. Braverman