Investigators and Program Directors

Research Interests

The overall goal of the Molecular Genetic Epidemiology Laboratory is to understand how human genetic variation influences disease susceptibility, morbidity, and outcome by studying the relationships between gene variants and environmental factors. The laboratory uses anonymous samples from the New York State newborn screening program in IRB-approved exempt protocols. Recently completed studies include non-syndromic hearing loss and haplotyping for sickle cell disease. We are working with the CDC to examine determinants of disease severity for meningococcal and pneumococcal disease. These data may be analyzed to predict the impact of human genetics on the future disease burden of New York State residents. Our clinical laboratory performs second-tier molecular testing of newborns for cystic fibrosis, galactosemia, and medium-chain acyl CoA dehydrogenase deficiency in order to "rule-in" a positive diagnosis. Several other molecular tests are currently under development, including a DNA-based newborn screening chip. The laboratory is adapting large-scale "wet-bench" techniques to nanobiotechnology. These projects will increase throughput, permit the study of gene expression, and permit single-cell isolation and analyses of rare cells isolated from a complex mixture using nanofabricated silicon lab-on-a-chip devices.

Contact Information

E-mail: caggana@wadsworth.org