Nancy Braverman, McGill University
Associate Professor Human Genetics Pediatrics Montreal, Quebec nancy.braverman@mcgill.ca
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Bio/Research
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 b...
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Bio/Research
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.
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