Carlos A. Saavedra-Matiz, MD
Research Interests
The New York State (NYS) Newborn Screening (NBS) Program at Wadsworth Center screens all NYS newborns for over 45 conditions including cystic fibrosis, hemoglobinopathies, congenital hypothyroidism, severe combined immunodeficiency (SCID) and metabolic disorders.
The goal of NBS is the pre-symptomatic identification of disease biomarkers for treatable congenital disorders to prevent illness presentation. As a trained physician, clinical geneticist and supervisor of the NYS Molecular NBS Laboratory, Dr. Saavedra-Matiz has been pivotal in the development and implementation of all molecular tests performed by the NYS NBS program and on the follow-up of the screened positive babies.
NYS NBS was the first in the world to implement NBS for Krabbe disease. In the United States, we were the first to implement X-ALD, the second to implement Pompe disease and the fourth to implement, a DNA-based method for the screening of severe combined immunodeficiency.
Dr. Saavedra-Matiz studies the genetics of diseases affecting children by using expression studies, classical and next generation sequencing methodologies to understand human genetic variation of disease and susceptibility. Also, the molecular laboratory focuses on the development and implementation of molecular technologies aiming to identify the biomarker predictors of disease in newborns. Dr. Saavedra-Matiz developed the method to extract DNA from dried blood spots presently used by the NYS NBS program.