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Michele Caggana

Director, Wadsworth Center, Newborn Screening Program
Deputy Director, Wadsworth Center, Division of Genetics

Faculty Member, Wadsworth School of Laboratory Sciences


The New York Newborn Screening Program was charged with testing for phenylketonuria in 1965. Today the Program tests specimens from more than 275,000 infants for 45 disorders, administering 12 million test results annually. The New York Program is unique in that it screens for Krabbe disease and HIV exposure, and was the first to screen for sickle cell disease, beginning in 1975.

Research Interests

Dr. Michele Caggana joined the Wadsworth Center in 1996 after receiving her doctoral degree from the Harvard School of Public Health and completing post-doctoral work in molecular virology at Wadsworth Center and clinical molecular genetics at the Mt. Sinai School of Medicine. Dr. Caggana is chief of the Laboratory of Human Genetics and was appointed as director of the Newborn Screening Program in 2006. She is the deputy director for the Division of Genetics and head of the Genetic Testing Section for the Clinical Laboratory Evaluation Program. Newborn screening has expanded drastically in recent years, with Krabbe disease being the most recent addition 2006. Other tests under development include primary T-cell immunodeficiencies and additional lysosomal storage diseases.

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. The lab works 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. The 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.

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