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The Challenges and Approaches to the Treatment of Peroxisome Assembly Diseases - Nancy Braverman MD, MSc
The Challenges and Approaches to the Treatment of Peroxisome Assembly Diseases  
Grand Rounds
Emory University
Department of Human Genetics
Atlanta, GA  
Date
January 26th, 2009
Length
58:55

About the Presentation
On January 26, 2009, Dr. Nancy Braverman of the Montreal Children's Hospital Research Institute presented “The challenges and approaches to the treatment of peroxisome assembly diseases” at Emory University’s Department of Human Genetics Grand Rounds.

Presenter Biography
Dr. Braverman is an Associate Professor in the Departments of Human Genetics and Pediatrics at McGill University in Montreal, Quebec. She received her MD from Tulane University and her MS in Genetics Counseling from Sarah Lawrence College. Previously, Dr. Braverman was at Johns Hopkins University in Baltimore, MD.

Dr. Braverman’s research focuses on peroxisome biogenesis disorders, a heterogeneous group of inherited disorders associated with the failure to form functional peroxisomes. They provide a unique example of developmental disorders caused by defects in biochemical pathways. She is currently studying the functions of the proteins required for biogenesis of this organelle, generating models to study disease pathophysiology and screening drugs for their therapeutic potential.

Selected Publications by the Presenter
Steinberg S, Dodt G, Raymond G, Braverman N, Moser A, Moser H. Peroxisome Biogenesis Disorders. Biochim Biophys Acta. 1763: :1733-1748; 2006.

Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N. The PEX Gene Screen: Molecular Diagnosis of Peroxisome Biogenesis Disorders in the Zellweger Syndrome Spectrum. Mol. Genet. Metab. 83: 252-263; 2004

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JTR, Boneh A, Moser A, Moser H, Valle D. Mutation Analysis Of Pex7 In 60 Probands With Rhizomelic Chondrodysplasia Punctata And Functional Correlations Of Genotype With Phenotype. Human Mutation 20: 284-297; 2002

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