The goal of my research is to understand the environmental and genetic etiologies of developmental disorders, such as autism spectrum disorders. Through collaborations with other programs interested in the genetics of autism, we have studied how specific candidate genes are related to autism spectrum disorders. Recently, Dr. Loisa Bennetto, a developmental neuropsychologist here at the University of Rochester, and I were awarded a grant from NIH to study how familial and heritable chemosensory (taste & smell) traits are in families with autism. Problems around feeding behavior are of major concern to families who have children with autism, thus understanding the basic neurobiology chemosensory behavioral and how genetic factors affect these traits can be important for developing new therapies and behaivoral strategies to help treat those with autism.

Another area of autism research that I actively pursuing is investigating how early embryonic exposures known to cause autism affects developmental gene expression. To model these affects, we are using the potent neuroteratogen, valproic acid (Depakote). Valproic acid is used clinically for the treatment of seizures, mania associated with bipolar disorder, migraines, and cancer. In humans, in utero exposure is associated with an increased risk for autism. Early embryonic exposure in rats, results in similar behavioral profiles and neuroanatomical deficits seen in human cases of autism. Thus, this makes valproic acid a useful tool to study the gene-environment interaction which may be critical to causing some cases of autism. Within an hour after exposure, we can measure changes in embryonic gene expression. By determining these alterations, we will be better able to understand the molecular pathways that are altered in autism.

In another study of gene-environment interaction in autism, we are focusing on populations of cases of autism that have known environmental exposures. These include fetal exposures to valproic acid, and another drug linked to autism, misoprostol. By studying the sequences of candidate genes from cases that have known exposures and autism, to those who were exposed with the disorder, we hope to identify genetic features that may increase ones susceptibility to autism.

A third area of research is investigating the teratogenic impact of uncontrolled type-II diabetes. Using rats who have been specifically bred to develop type-II diabetes, or who are resistant to the disorder, we are interested in how embryonic gene expression is different between the embryos with neurotube defects and intra-uterine growth restriction and those who appear to be developing normally.

Finally, we are also investigating the gene-environment interactions that may have an etiology in vulvar vestibulitis, a women's health condition that results in severe chronic pain of the vulva. Estimated to affect 13-15% of women, there are strong indication that genetics plays an important role in the disorder, in that women with fair, light complexions have a greater risk of developing the disorder. We have been investigating the role of genes involved in skin pigmentation and inflammation to the disorders, and identified polymorphic variants which increases the risk of diagnosis.

• Curran CP, Lau C, Schellpfeffer MA, Stodgell CJ, Carney EW. The teratology society 2012-2017 strategic plan: Pushing the boundaries. Birth Defects Res A Clin Mol Teratol. 2013 Jan; 97(1):2-7.
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• Ergaz Z, Shoshani-Dror D, Guillemin C, Neeman-Azulay M, Fudim L, Weksler-Zangen S, Stodgell CJ, Miller RK, Ornoy A. The effect of copper deficiency on fetal growth and liver anti-oxidant capacity in the Cohen diabetic rat model. Toxicol Appl Pharmacol. 2012 Dec 1; 265(2):209-20.
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• Byler TK, Leocadio D, Shapiro O, Bratslavsky G, Stodgell CJ, Wood RW, Messing EM, Reeder JE. Valproic acid decreases urothelial cancer cell proliferation and induces thrombospondin-1 expression. BMC Urol. 2012; 12:21.
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• Foster DC, Kotok MB, Huang LS, Watts A, Oakes D, Howard FM, Poleshuck EL, Stodgell CJ, Dworkin RH. Oral desipramine and topical lidocaine for vulvodynia: a randomized controlled trial. Obstet Gynecol. 2010 Sep; 116(3):583-93.
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• Foster DC, Kotok MB, Huang LS, Watts A, Oakes D, Howard FM, Stodgell CJ, Dworkin RH. The tampon test for vulvodynia treatment outcomes research: reliability, construct validity, and responsiveness. Obstet Gynecol. 2009 Apr; 113(4):825-32.
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• Brune CW, Korvatska E, Allen-Brady K, Cook EH, Dawson G, Devlin B, Estes A, Hennelly M, Hyman SL, McMahon WM, Munson J, Rodier PM, Schellenberg GD, Stodgell CJ, Coon H. Heterogeneous association between engrailed-2 and autism in the CPEA network. Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5; 147B(2):187-93.
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• Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28.
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• Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F. Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A. 2006 Nov 1; 140(21):2257-74.
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• Stodgell CJ, Ingram JL, O'Bara M, Tisdale BK, Nau H, Rodier PM. Induction of the homeotic gene Hoxa1 through valproic acid's teratogenic mechanism of action. Neurotoxicol Teratol. 2006 Sep-Oct; 28(5):617-24.
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• Schellenberg GD, Dawson G, Sung YJ, Estes A, Munson J, Rosenthal E, Rothstein J, Flodman P, Smith M, Coon H, Leong L, Yu CE, Stodgell C, Rodier PM, Spence MA, Minshew N, McMahon WM, Wijsman EM. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry. 2006 Nov; 11(11):1049-60, 979.
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• Devlin B, Cook EH, Coon H, Dawson G, Grigorenko EL, McMahon W, Minshew N, Pauls D, Smith M, Spence MA, Rodier PM, Stodgell C, Schellenberg GD. Autism and the serotonin transporter: the long and short of it. Mol Psychiatry. 2005 Dec; 10(12):1110-6.
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• Arndt TL, Stodgell CJ, Rodier PM. The teratology of autism. Int J Dev Neurosci. 2005 Apr-May; 23(2-3):189-99.
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• Foster DC, Sazenski TM, Stodgell CJ. Impact of genetic variation in interleukin-1 receptor antagonist and melanocortin-1 receptor genes on vulvar vestibulitis syndrome. J Reprod Med. 2004 Jul; 49(7):503-9.
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• Devlin B, Bennett P, Dawson G, Figlewicz DA, Grigorenko EL, McMahon W, Minshew N, Pauls D, Smith M, Spence MA, Rodier PM, Stodgell C, Schellenberg GD. Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network. Am J Med Genet B Neuropsychiatr Genet. 2004 Apr 1; 126B(1):46-50.
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• Conciatori M, Stodgell CJ, Hyman SL, O'Bara M, Militerni R, Bravaccio C, Trillo S, Montecchi F, Schneider C, Melmed R, Elia M, Crawford L, Spence SJ, Muscarella L, Guarnieri V, D'Agruma L, Quattrone A, Zelante L, Rabinowitz D, Pascucci T, Puglisi-Allegra S, Reichelt KL, Rodier PM, Persico AM. Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. Biol Psychiatry. 2004 Feb 15; 55(4):413-9.
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• Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology. 2000 Dec; 62(6):393-405.
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• Stodgell CJ, Loupe PS, Schroeder SR, Tessel RE. Cross-sensitization between footshock stress and apomorphine on self-injurious behavior and neostriatal catecholamines in a rat model of Lesch-Nyhan syndrome. Brain Res. 1998 Feb 2; 783(1):10-8.
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• Van Keuren KR, Stodgell CJ, Schroeder SR, Tessel RE. Fixed-ratio discrimination training as replacement therapy in Parkinson's disease: studies in a 6-hydroxydopamine-treated rat model. Brain Res. 1998 Jan 5; 780(1):56-66.
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• Stodgell CJ, Schroeder SR, Tessel RE. FR discrimination training reverses 6-hydroxydopamine-induced striatal dopamine depletion in a rat model of Lesch-Nyhan syndrome. Brain Res. 1996 Mar 25; 713(1-2):246-52.
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• Tessel RE, Schroeder SR, Loupe PS, Stodgell CJ. Reversal of 6HD-induced neonatal brain catecholamine depletion after operant training. Pharmacol Biochem Behav. 1995 Aug; 51(4):861-7.
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• Cox DN, Davidson VP, Judd CE, Stodgell C, Traiger GJ. The effect of partial hepatectomy on the metabolism, distribution, and nephrotoxicity of para-methylthiobenzamide in the rat. Toxicol Appl Pharmacol. 1992 Apr; 113(2):246-52.
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