HomeResearchIntramural ResearchResearch Branches at NHGRIGenome Technology Branch Baxevanis Lab

Andy Baxevanis, Ph.D. Deputy Scientific Director National Human Genome Research Institute Associate Investigator Genome Technology Branch Head Computational Genomics Unit Director Computational Genomics Program Bioinformatics and Scientific Programming Core Acting Director Intramural Training Office B.S. Cornell University, 1984 Ph.D. The Johns Hopkins University, 1991 (301) 496-8570 (301) 480-2634 andy@nhgri.nih.gov Building 50, Room 5222 50 South Dr, MSC 8002 Bethesda, MD 20892-8002 Selected Publications Current Topics in Genome Analysis 2008 Postdoctoral Fellowship in Bioinformatics and Computational Biology Histone Sequence Database Homeodomain Resource Online Research Resources Developed at NHGRI

Dr. Baxevanis' research focuses on the computational analysis of disease-causing mutations from a structural standpoint, using innovative techniques to deduce the precise structural changes in a protein caused by a particular genetic mutation. This kind of bioinformatics approach provides a powerful window into understanding the fundamental cause of phenotypes in people afflicted with a given genetic disorder. The same approach can be used to predict sructural changes that a hypothetical mutation would cause, enabling laboratory researchers to design experiments more effectively.

Dr. Baxevanis' group recently elucidated the differing molecular effects of five missense mutations in the FOXC1 gene. In other analyses, Dr. Baxevanis' group helped elucidate the mechanism by which specific mutations alter a protein's ability to bind to a target DNA sequence. Depending on the protein involved, the disease phenotypes that result from its inability or reduced ability to bind to DNA can be quite different. For example, mutations in a gene called FOXP2 are responsible for a severe speech and language disorder, while FOXP3 mutations can lead to severe immune dysfunction.

Dr. Baxevanis' group also studies the evolutionary relationships between members of the homeodomain family of proteins. His group has deduced a family tree that shows the relationship between 129 different human homeodomain proteins; these 129 proteins segregate into six distinct groups, with each group characterized by similar structural and functional features. His group also maintains a publicly available database called the Homeodomain Resource, which is used extensively by researchers worldwide studying these proteins. It contains full-length homeodomain sequences and data on experimentally derived structures, protein-protein interactions, DNA binding sites, and mutations linked to human disorders.

Because such computational analyses always must be confirmed by laboratory experiments, the ability to combine laboratory and computational approaches in a synergistic manner is critical to being able to perform cutting-edge biological research in the future. Such synergism also will allow investigators to more effectively design experiments and analyze data sets being generated through large-scale studies.

Dr. Baxevanis' group devotes significant effort to developing computer software that will aid other biomedical researchers. For example, early in the development of microarrays¿devices that can detect the expression of thousands of genes in a tissue sample¿his group developed the first publicly available software program designed to easily store and analyze microarray data. More recently, the group developed a software program known as GeneLink, which enables researchers to analyze large data sets from studies of complex-trait genetic disorders, such as cancer, diabetes, and hypertension. Unlike cystic fibrosis and Huntington¿s disease, which are caused by single genes, complex-trait disorders involve many genes along with environmental factors. Gene-mapping studies involving families with an unusually high incidence of such diseases become complicated, requiring the identification and comparison of hundreds¿and perhaps thousands¿of DNA markers in thousands of individuals. GeneLink enables researchers to store this information and mine it for relationships that might not be immediately apparent.

Top of page

Last Updated: October 31, 2008