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Marvin Natowicz, M.D., Ph.DClinical Geneticist
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Social Policy Issues in Genetic Medicine: There are important public policy ramifications of advances in genetics and genetic technologies. A major focus of my research concerns the process/outcomes of public policymaking in genetic medicine. The model system is the screening of newborns, the most widely used type of genetic testing. Key questions include: (1) what criteria should be used to decide what disorders should be screened for? (2) what parties should be involved in deciding this and other aspects of newborn screening programs? (3) how and by what criteria should newborn screening policies/programs be evaluated?
Genetic/Metabolic Aspects of Autism: The autism spectrum disorders (ASDs) are neurodevelopmental conditions of considerable prevalence and morbidity. They are etiologically heterogeneous; at least 10% have a clear genetic or metabolic basis. We investigate the clinical, biochemical, and genetic bases of a new ASD category: disorders arising from defects of oxidative phosphorylation.
Clinical Chemistry of Inherited Metabolic Disorders: Advances in biochemical and genetic technologies have facilitated testing for many genetic conditions. We apply these technologies to advance diagnostic capabilities for genetic disorders of lysosomal metabolism and CNS leukodystrophies. We also use our large databases to understand clinical correlations and clinical epidemiology of unusual metabolic disorders and biochemical findings diagnosed in our clinical neurometabolism laboratory.
Kass NE, et al. Access to health insurance: experiences and attitudes of those with genetic versus non-genetic medical conditions. Am J Med Genet A 2007;143:707-17.
Martin DC, et al. Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. Clin Chem 2007;53:392-8.
Isman F, Palomaki GE, Natowicz MR. Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes. Clin Chem 2005;51:646-9.
Natowicz MR. Newborn screening – setting evidence-based policy for protection. New Engl J Med 2005;353:867-70.
Hiller EH, Landenburger G, Natowicz MR. Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. Am J Publ Health 1997;87:1280-8.