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Michele Caggana, Ph.D.

  • Michele Caggana

    Michele Caggana, Ph.D.

    • Deputy Director of the Division of Genetics
    • Director of the Newborn Screening Program
    • Faculty Member, Wadsworth School of Laboratory Sciences

    • Harvard School of Public Health (1996)
    • Postdoctoral training: New York State Department of Health, Wadsworth Center
    • Postdoctoral training: Mt. Sinai School of Medicine

  • The Program was charged with testing for phenylketonuria in 1965 and today administers 12 million results annually.
    The New York Newborn Screening Program was charged with testing for phenylketonuria in 1965. Today the Program tests specimens from more than 275,000 infants for 45 disorders, administering 12 million test results annually. The New York Program is unique in that it screens for Krabbe disease and HIV exposure, and was the first to screen for sickle cell disease, beginning in 1975.

Research Interests

Dr. Michele Caggana joined the Wadsworth Center in 1996 after receiving her doctoral degree from the Harvard School of Public Health and completing post-doctoral work in molecular virology at Wadsworth Center and clinical molecular genetics at the Mt. Sinai School of Medicine. Dr. Caggana is chief of the Laboratory of Human Genetics and was appointed as director of the Newborn Screening Program in 2006. She is the deputy director for the Division of Genetics and head of the Genetic Testing Section for the Clinical Laboratory Evaluation Program. Newborn screening has expanded drastically in recent years, with Krabbe disease being the most recent addition 2006. Other tests under development include primary T-cell immunodeficiencies and additional lysosomal storage diseases. The overall goal of the Molecular Genetic Epidemiology Laboratory is to understand how human genetic variation influences disease susceptibility, morbidity, and outcome by studying the relationships between gene variants and environmental factors. The laboratory uses anonymous samples from the New York State newborn screening program in IRB-approved exempt protocols. Recently completed studies include non-syndromic hearing loss and haplotyping for sickle cell disease. The lab works with the CDC to examine determinants of disease severity for meningococcal and pneumococcal disease. These data may be analyzed to predict the impact of human genetics on the future disease burden of New York State residents. The clinical laboratory performs second-tier molecular testing of newborns for cystic fibrosis, galactosemia, and medium-chain acyl CoA dehydrogenase deficiency in order to "rule-in" a positive diagnosis. Several other molecular tests are currently under development, including a DNA-based newborn screening chip. The laboratory is adapting large-scale "wet-bench" techniques to nanobiotechnology. These projects will increase throughput, permit the study of gene expression, and permit single-cell isolation and analyses of rare cells isolated from a complex mixture using nanofabricated silicon lab-on-a-chip devices.

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.
Orsini JJ, Morrissey MA, Slavin LN, Wojcik M, Biski C, Martin M, Keutzer J, Zhang XK, Chuang W-L, Elbin C, Caggana M.
Implementation of newborn screening for Krabbe disease: population study and cutoff determination.
Clinical Biochemistry.
(2009)
42
(9):
877-84.
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.
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.
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.
(2015)
17
(5):
348-357.
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.
Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M.
Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders.
Clinica Chimica Acta.
(2012)
413
(15-16):
1270-1273.
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.
(2012)
44
(12):
1360-1364.