Return to Faculty Listing
Jeff Murray M.D.
Professor of Pediatrics
Advances in molecular biology, epidemiology, quantitative analysis and developmental biology have made it possible to identify genes involved in common complex traits in humans. Our laboratory applies these tools to study birth defects and prematurity. One project includes strategies to identify and characterize genes involved in cleft lip and palate, an inherited human birth defect. We have identified several genes involved in facial development and are studying their environmental covariates and clinical impact. For prematurity, a condition that causes 3 million deaths worldwide each year, we are using large sample collections and genome wide linkage and association to study thousands of individuals for millions of gene variants to generate enormous power for gene detection. 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. The studies of prematurity require clinical, biological and bioinformatic collaboration. We are also involved in studies of the prevention and better treatment of children with these disorders. Combining our molecular and developmental expertise with studies of epidemiology and environmental causes, holds out the promise for developing a better understanding of both rare disorders and common conditions. We are now developing strategies for prevention that include manipulation of genes or gene-environment interactions to prevent the primary occurrence of these tragic disorders. Graduate students serve in leadership roles for these projects and have primary responsibility for project design, implementation and publication. 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. Selected Publications
Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla E, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu Y, Ray A, Goldstein TH, Shi M, Kondo S, Schutte B, Marazita ML, Murray JC. Interferon regulatory factor 6 (IRF6) is a modifier for isolated cleft lip and palate. N Engl J Med 351:769-780, 2004. Yoshirua, K, Kinoshita, A, Ishida, T, Ninokata, A, Ishikawa, T, Kaname, T, Bannai, M, Tokunaga, Ki, Sonoda, S, Komaki, R, Ihara, M, Saenko, V, Alipov, G, Sekine, Io, Komatsu, K, Takahashi, H, Nakashima, M, Sosonkina, N, Mapendano, C, Ghadami, M, Nomura, M, Liang, De-Sheng, Miwa, N, Dae-Kwang, K, Garidkhuu, A, Natsume, N, Ohta, T, Tomita, H, Kaneko, A, Kikuchi, M, Russomando, G, Hirayama, K, Ishibashi, M, Takahashi, A, Saitou, N, Murray JC, Saito, S, Nakamura, Y, Nikawa, N. A SNP in the ABCC11 gene is the determinant of human earwax type. Nature Genetics, Mar; 38(3):324-30, 2006. 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. 2007 Mar 13;104(11):4512-7. 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. 2007 Jan;80(1):76-90. 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. Pediatric Research, 2007, in press. |
