Newborn Screening Program: We develop data visualizations and reports for public health surveillance. We provide education and work collaboratively with external stakeholders to improve the overall quality of the newborn screening system in NYS.
We screen infants born in New York State for more than 50 conditions at birth and study the genetics of diseases affecting infants and children.
We focus on simplifying and automating published low-volume newborn screening tests in order to transform them into high-volume assays.
We are interested in the identification of molecular markers as predictors of disease in newborns. We also focus on clinical testing, development and implementation of molecular screening methods.
Screening has uncovered individuals whose sweat chloride values are above normal, but no other CF symptoms are identified. Our aim is to determine if other variants in the CFTR gene, or modifier genes, correlate with these abnormal levels.