Research Interests:
I am a molecular epidemiologist with interest in gene-environment interactions causing structural birth defects. My research goals are to understand the complex causes of birth defects, improve the ability to identify parents and fetuses who are at risk due to environmental exposures and genetic susceptibility, and to transfer this knowledge into birth defects prevention and control strategies.

Current studies in my laboratory are aimed at understanding gene-environment interactions in the cause of urogenital anomalies, including hypospadias and undescended testes. My colleagues and I collaborate with clinical investigators at Children's Hospital to recruit patients coming in to Pediatric Urology for evaluation/surgical repair of these urogenital anomalies. Questionnaires are administered to parents and cheek swabs collected to obtain a source of DNA from the mother, father and infant. Candidate genes involved in androgen action and metabolism are examined for mutations, and clinical as well as environmental risk factors evaluated from the questionnaire data. This research will elucidate the relative contribution of genetic and environmental risk factors that cause urogenital anomalies.

Recent Representative Publications:
Manson JM, Sammel MD, Freeman EW, Grisso JA. Racial differences in sex hormone levels in women approaching the transition to menopause. 2001. Fertil Steril 75(2): 297-304.

Manson JM, McFarland B, Weiss S. Evaluation of markers for early detection of pregnancy in an automated database. 2001. Am J Epidemiol 154 (2): 180-187.
Manson, JM, Carr, MC. 2003. Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors. Birth Defects Research (Part A) 67:825-836.

Barthold JS, Manson JM, Regan V, Si X, Hassink SG, Coughlin MT, Lee PA. 2004. Reproductive hormone levels in infants with cryptorchidism during postnatal activation of the pituitary-testicular axis. J Urology 172: 1736-1741.

Manson J, Brabec M, Buelke-Sam J, Carlson G, Chapin R, Favor J, Fischer L, Hattis D, Lees P, Perreault-Darney S, Rutledge J, Smith T, Tice R, Working P. 2005. NTP-CERHR Expert panel report on the reproductive and developmental toxicity of acrylamide. Birth Defects Res Part B Dev Reprod Toxicol 74(1): 17-113.

Driscoll D, Boland T, Emanuel B, Kirshner M, LaRossa D, Manson J, McGinn, D, Randall P, Solot C, Zachai E, Mitchell L. Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome. Accepted Cleft Palate-Craniofacial Journal 2005.

Wang Y, Barthold J, Kanetsky P, Casalunovo T, Pearson E, Manson J. Allelic variants in HOX genes in cryptorchidism. Submitted to Amer J Hum Genet 2006.