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IDDRC Developmental Genomics Core-D
Co-directors: Bruce Korf, M.D. and and Ludwine Messiaen, Ph.D.

The Human Genome Project has generated tools of unprecedented power to identify genes that contribute to the etiology of developmental disorders. This opens the door to analysis of genotype-phenotype correlations, study of biological mechanisms of developmental disorders, and generation of new diagnostic tests. The UAB Department of Genetics offers a full complement of genomic tools to facilitate gene identification, but most investigators in the IDDRC are not equipped to organize and conduct a study aimed at gene identification, to interpret the raw data that are generated, or to translate a discovery into clinical practice. The Developmental Genomics Core will function as a coordination and consultation service to IDDRC investigators, helping them to strategize a gene identification project, access genomic technologies, and liaison with the patient or family during the study.

Specific Core-D objectives include:

1. Clinical Study Coordination: Assistance with collection of clinical information and DNA or tissue samples. This includes coordination of patient and family recruitment, development of IRB protocols and informed consent documents, creation and maintenance of phenotypic databases, DNA and tissue collection and storage, and genetic counseling regarding results of studies.

2. Genomics: Performing linkage analysis and screening candidate genes or regions for mutations and microarray-based comparative genomic hybridization (array CGH) to rapidly screen for genome-wide deletions or duplications, with bioinformatics and statistical genetics support to interpret data.

3. Translational Genomics: Development and validation of clinical molecular diagnostic assays that can be performed in a CLIA–certified laboratory.