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Denise M. Kay, Ph.D.

  • Denise M. Kay

    Denise M. Kay, Ph.D.

    • Newborn Screening Program
    • Adjunct Assistant Professor, School of Public Health, Biomedical Sciences
    • Faculty Member, Wadsworth School of Laboratory Sciences

    • Ph.D., Rensselaer Polytechnic Institute, Troy, NY (2004)
    • Postdoctoral training: New York State Department of Health, Wadsworth Center
    (518) 474-7610

Research Interests

Newborn screening, beginning with implementation of the 'PKU test' for phenylketonuria in the early 1960's, is one of the most successful public health programs in the US. Within days of birth, blood samples are collected via heel stick onto Guthrie filter paper cards, and samples are screened for a panel of biomarkers for treatable, congenital disorders.

The goal of newborn screening is to readily identify and rapidly treat, delay or prevent illness, mental retardation, or death. The New York State program at the Wadsworth Center screens all infants born in NYS for more than 40 conditions including metabolic disorders, hemoglobinopathies, congenital hypothyroidism, cystic fibrosis (CF), severe combined immunodeficiency (SCID) and lysosomal storage disorders.

Dr. Kay studies the genetics of diseases affecting children, including conditions screened by the newborn screening program, and congenital malformations (birth defects). Her research utilizes both targeted and genome-wide approaches to identify and characterize mutations, susceptibility alleles and interactions in novel and known disease genes and pathways, using genetic, epidemiological, statistical, and bioinformatic approaches.

Ongoing work includes assessment of common disease-associated CF alleles in the diverse NYS population, the study of genotype-phenotype associations in Krabbe disease, and identification of novel risk factors for various congenital malformations.

Other interests include improving existing newborn screening mutation panels and addressing challenges to implementation of next generation sequencing in the newborn screening setting. The ultimate goal is to translate knowledge gained from these studies into routine public health practice.

Select Publications

Rigler SL, Kay DM, Sicko RJ, Fan R, Liu A, Caggana M, Browne ML, Druschel CM, Romitti PA, Brody LC, Mills JL.
Novel copy-number variants in a population-based investigation of classic heterotaxy.
Genetics in Medicine.
Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C, New York State Cystic Fibrosis Newborn Screening Consortium.
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Pediatric Pulmonology.
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.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuze Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA.
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Nature Genetics.
Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL.
Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry.
Pediatric Neurology.