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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.
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Amanda Seaberg,Waheed Awotoye, Fang Qian, Lindsey Dunlay,Azeez Butali,Jeffrey C. Murray,Lina M Moreno-Uribe,Aline Petrin
medrxiv(2023)
American journal of medical genetics. Part Ano. 5 (2023): 1227-1239
Molecular genetics & genomic medicineno. 10 (2023): e2237-e2237
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
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The American Journal of Human Geneticsno. 1 (2023): 71-91
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