Carlos A. Saavedra-Matiz

Carlos A. Saavedra-Matiz, M.D.

Newborn Screening Program
M.D. Universidad del Valle, Cali, Colombia (1987)
Postdoctoral training: Albany Medical College
Postdoctoral training: New York State Department of Health, Wadsworth Center

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.

Select Publications
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M. Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. Mol Genet Metab. 2015; 114 (4): 599-603.
Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Newborn screening for SCID in New York State: experience from the first two years. Journal of Clinical Immunology. 2014; 34 (3): 289-303.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014; 312 (7): 729-38.
Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, DiAntonio LL, Krein LM, Nichols MJ, Caggana M. Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots. Clinical Chemistry. 2013; 59 (7): 1045-1051.
Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet. 1999; 8 (12): 2191-2198.
Caldarone B, Saavedra C, Tartaglia K, Wehner JM, Dudek BC, Flaherty L. Quantitative trait loci analysis affecting contextual conditioning in mice. Nature Genetics. 1997; 17 (3): 335-337.
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