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Other projects include strategies to identify and characterize genes involved in several inherited human disorders with a major emphasis on cleft lip and palate. We have found several genes and gene/environment interactions that add to the burden of clefts. Many of our studies are carried out using large population and epidemiologic studies of children, particularly from the Philippines, Japan, Denmark and Brazil, and we work in close collaboration with investigators in these countries. We are also involved in studies of the prevention and better treatment of children with birth defects on several clinical trials. Combining our molecular and developmental expertise with studies of epidemiology and environmental causes, holds out the promise for developing a better understanding of pediatric disorders. We hope to move into developing strategies for prevention that might include manipulation of genes or gene-environment interactions to prevent the primary occurrence of these tragic disorders. Graduate students, residents and postdoctoral fellows in my laboratory serve in leadership roles for these projects and have primary responsibility for project design and implementation. We are strongly committed to providing opportunities for students in the classroom, the laboratory and in fieldwork to develop their interests and expertise in the application of genetic tools to an understanding of human disease and to clinical trials to improve outcomes. Lab Members:
Affiliations:
Model System: Humans material and clinical trials Recent Publications: Shi M, Christensen K, Weinberg CR, Romitti P, Bathum L, Lozada A, Morris RW, Lovett M, Murray JC. Orofacial cleft risk is increased with maternal smoking and specific detoxification gene variants. Am J Hum Genet. 80(1):76-90, 2007. Riley BM, Mansilla MA., Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dode C., Mohammadi M, Marazita ML, Murray JC. Impaired FGF signaling contributes to cleft lip and palate. Proc. Natl. Acad. Sci., U S A. Mar 13;104(11):4512-4517, 2007. Ehn NL, Cooper ME, Orr K, Shi M, Johnson MK, Caprau D, Dagle J, Steffen K, Johnson K, Marazita ML, Merrill D, Murray JC. Evaluation of Fetal and Maternal Genetic Variation in the Progesterone Receptor Gene for Contributions to Preterm Birth. Pediatr Res. 62(5):630-635, 2007. Steffen KM, Cooper ME, Shi M, Caprau D, Simhan HN, Dagle JM, Marazita ML, Murray JC. Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery. J Perinatol. 27:672-680, 2007. Merialdi M and Murray JC. Commentary. The changing face of preterm birth. Pediatrics 120(5):1133-1134, 2007. Jugessur A, Rahimov F, Lie RT, Wilcox AJ, Gjessing HK, Nilsen RM, Nguyen TT, Murray JC. Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol. 32(5):413-424. 2008 Feb 15 [Epub ahead of print]. Shi M, Wehby GL, Murray JC. Review on Genetic Variants and Maternal Smoking in the Etiology of Oral Clefts and Other Birth Defects. Birth Defects Res Part C 84(1):16-29, 2008. Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick PA, Green ED, NISC Comparative Sequencing Program, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC and Murray JC. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat. Genet. 2008 Oct. 5. [Epub ahead of print]. Dagle JM, Lepp NT, Cooper ME, Schaa KL, Kelsey KJP, Orr KL, Caprau D, Zimmerman CR, Steffen KM, Johnson KJ, Marazita ML, Murray JC. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. Pediatrics (in press, 2008). |
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