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Research | Core Facilities | Patient Studies | Tech Transfer | Seminars | Intranet | Careers | Search | Contact Us | Ways To Give HOME |
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More about Arthritis and Immunology Research Program
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Research Interests Statistical analyses are vital and necessary components of any gene-mapping effort. Approaches to map and identify disease genes vary according to the research question, the population, and the disease under analysis. These methods include various genetic-epidemiological methods like linkage analysis, segregation analysis, candidate gene analysis, association mapping, admixture mapping, population genetics and meta analysis. The central focus of my research is to study the genetic epidemiology of complex diseases in which the inheritance does not follow clear-cut Mendelian fashion. These studies involve analyses of large numbers of phenotypically well-characterized families and case-control samples. The advent of new molecular genetic technologies makes the mapping and identification of susceptibility genes, and their interactions with other genes and environmental factors feasible. The disease which we are mostly interested is systemic lupus erythematosus (SLE), an autoimmune disease and non-syndromic cleft lip with or without cleft palate (NSCLP). We have conducted several genome scans for to identify chromosomal regions likely to harbor SLE susceptibility genes. Additionally, we are looking at candidate genes in the linked and other chromosomal regions for association with the disease. Currently, my lab is actively involved in the positional cloning and identification of major SLE susceptibility genes at 5p15, 12q24, 16p12-q13 and Xq28 by combining data from linkage and allelic association from studies that differ in population, phenotype definition and ascertainment. We are also performing mapping by admixture linkage disequilibrium (MALD), a powerful and cost effective method to map the genes with low-penetrant risk. The key advantage of MALD is that a small number of ancestry informative markers are sufficient to map these SLE susceptibility loci. At present we are applying MALD techniques to the study of African-American populations. NSCLP is one of the most common craniofacial malformations. Both genetic and environmental factors are involved in the pathogenesis. Recently, based on a high-density genome scan, we have identified 13q33.1-p34 as a novel NSCLP susceptibility region. Fine mapping is underway to identify the actual susceptibility gene. Joined OMRF Scientific Staff in 2000. Mailing Address
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