Denise M. Kay
Contact
PhD, Biology, Rensselaer Polytechnic Institute
Postdoctoral training, Wadsworth Center, New York State Department of Health
Dr. Kay’s background is in genetics and genetic epidemiology. Her primary research interests are in the genetics of diseases affecting infants and children, including conditions screened by the New York State (NYS) Newborn Screening Program, and congenital malformations (birth defects). Her current work is focused on addressing challenges in newborn screening, including improving current methods and algorithms, and developing and implementing novel assays for both existing and ‘new’ conditions not currently screened. A primary focus is on assessment of novel molecular technologies and expanded genetic analysis. The ultimate goal is to translate knowledge gained from these studies into routine public health practice.
Affiliation:
- Wadsworth Center, New York State Department of Health
Research Interests:
- Clinical genetics
- Newborn screening
- Epidemiology of diseases of infancy and childhood
Research Concentration:
- Genes and genomes
Current Major Activities:
- Characterization of the Cystic Fibrosis gene variant spectrum in the diverse NYS population;
- Evaluation of clinical outcomes among NYS infants screened using a three-tiered Cystic Fibrosis algorithm that includes full gene sequencing;
- Validation and assessment of the utility of a multi-gene next generation sequencing (NGS) panels for newborn screening;
- Identification of novel risk factors for various congenital malformations using whole exome sequencing.
Sample of Recently Completed Studies:
Sicko RJ, Stevens CF, Hughes EE, Leisner M, Ling H, Saavedra-Matiz CA, Caggana M, Kay DM. Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening. Int J Neonatal Screen. 2021 Nov 2;7(4):73. doi:10.3390/ijns7040073. PMID: 34842611.
Sicko RJ, Romitti PA, Browne ML, Brody LC, Stevens CF, Mills JL, Caggana M, Kay DM. Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls. J Mol Diagn. 2022 Jan;24(1):33-40. doi:10.1016/j.jmoldx.2021.09.007. Epub 2021 Oct 15. PMID: 34656763.
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18. PMID: 32418989.