Developmental Genomics Core

University of Alabama Intellectual and Developmental Disabilities Research Center
Developmental Genomics Core

Center URL:
Core URL:

Core Personnel
Core Co-Director: Bruce Korf, M.D., Ph.D.
Core Co-Director: Ludwine Messiaen, Ph.D.

Core Description

The Developmental Genomics Core represents a new component of the UAB MRRC created by integrating the resources from three existing groups - the Genomics Core Laboratory of the GCRC, the Heflin Center for Human Genetics, and the Medical Genomics Laboratory of the Department of Genetics - enabling an increase in the scope of activities and support to the core.

The completion of the human genome sequence has revealed the full complement of human genes, but the function of most of these genes and their RNA or protein products remains unknown. Careful study of the phenotypes associated with human genetic disorders offers a major opportunity to annotate the genome sequence by documenting the phenotypes associated with sequence changes throughout the genome. Achieving this goal requires tools for standardized phenotypic assessment and storage of data; genotyping patient DNA for variation in known genes; and discovery of genes responsible for "unknown" phenotypes. The Developmental Genomics Core will facilitate a more complete characterization of the function of human genes involved in developmental disorders and will enhance the ability of investigators to translate their research findings to clinical application.

Specific Developmental Genomics Core 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.
  2. Genomics: Screening candidate genes or regions for mutations and microarray-based comparative genomic hybridization (array CGH) to rapidly screen for genome-wide deletions or duplications. This will permit investigators to identify new genes responsible for mental retardation and to perform rapid mutation screens of candidate genes to establish genotype-phenotype correlations.
  3. Translational Genomics: Development of clinical molecular genetic diagnostic assays that can be performed in a CLIA-certified clinical laboratory. This relieves the research laboratory of the demand for clinical testing while maintaining the researcher's access to samples for genotype-phenotype correlation study.

Last Edited: 08/17/06 12:00 AM by Evette Mezger