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PrintAndy Baxevanis, Ph.D.
Computational Genomics Unit
Director
Bioinformatics and Scientific Programming Core
Associate Investigator
Genome Technology Branch
B.S. Cornell University, 1984
Ph.D. The Johns Hopkins University, 1991
(301) 496-8570
(301) 480-2634
50 South Dr, MSC 8002
Bethesda, MD 20892-8002
Dr. Baxevanis' research focuses on the computational analysis of the homeodomain group of proteins, which play a fundamental role in the specification of body plan, pattern formation, and cell fate determination during metazoan development. His group uses a variety of bioinformatic approaches aimed at understanding the evolution and function of these proteins and their role in human disease.
Homeobox (or Hox) genes are organized in conserved genomic clusters across a range of phylogenetic taxa and are considered partially responsible for patterning the primary body axis. Over evolutionary time, the functional diversification of these Hox genes has contributed to the diversification of animal body plans. To investigate the origin and early evolution of Hox genes and the "Hox code," Dr. Baxevanis' group has focused on the sea anemone Nematostella. Cnidarians, including corals, sea anemones, and jellyfish, constitute an outgroup to bilaterians — animals having bilateral symmetry — and have the potential to provide unique insights into early Hox evolution. Dr. Baxevanis and his collaborators have found phylogenetic evidence suggesting that a rudimentary Hox code in the cnidarian-bilaterian ancestor played a role in patterning the animal's primary (and possibly secondary) body axis. Moreover, thanks to strong stabilizing selection on this Hox code, certain core characteristics have been maintained despite being deployed in a bewildering array of animal forms for over a half billion years. In addition, Dr. Baxevanis' group has examined the possible role of Wnt genes in ancestral metazoan axial patterning, gene functions thought to pre-date the Hox system. Strong evidence suggests that Hox genes were "co-opted" into this pathway sometime between their origin and the last common ancestor of cnidarians and bilaterians.
The Baxevanis group also maintains the Homeodomain Resource, a publicly available database used extensively worldwide by researchers studying the homeodomain family of proteins. This database contains full-length homeodomain sequences and data on experimentally derived structures, protein-protein interactions, DNA binding sites, and mutations linked to human disorders.
Dr. Baxevanis' group devotes significant effort to developing computer software that will aid biomedical researchers. For example, early in the development of microarrays, his group developed the first publicly available software program designed to easily store and analyze microarray data. More recently, his group developed GeneLink, which enables researchers to analyze large data sets from studies of complex genetic disorders. Specifically designed to be used with large-scale linkage or association studies, GeneLink allows genotype data to be merged easily with pedigree and phenotype data, and an unlimited number of phenotypes to be stored and analyzed. His group has also developed ENCODEdb, a Web site that provides a unified, single point-of-access to data not only generated by the ENCODE Consortium, but also from other source databases within ENCODE pilot-project regions, providing the user a complete view of all known data in a particular region of interest.
Finally, Dr. Baxevanis has played a key role in the Multiplex Initiative, a large, multi-disciplinary research collaboration to examine the effects of genetic susceptibility testing. Specifically, this project aims to explore why patients elect (or decline) to undergo testing, how they interpret test information and results, and how they will ultimately use this knowledge in future health care decisions. To study these and similar questions, Dr. Baxevanis and his colleagues have designed and deployed a prototype multiplex genetic test for 15 polymorphisms associated with increased risk for eight common health conditions. Dr. Baxevanis' group led the creation of the complex computational infrastructure required for this type of multi-center study, which involved investigators at NHGRI, the Henry Ford Health System (HFHS) in Detroit, Michigan, and the Center for Health Studies in Seattle, Washington. His group developed the Multiplex Initiative's Web site, which serves as the primary tool for collecting survey data from participants, precisely recording what genetic testing information is sought, in what order, and how long participants spend in each area of the site. The ability to track and capture similar measurements is critical to answering many of the study's behaviorally related questions. Initial observations are already providing valuable insights into how genetic susceptibility testing can best be used for advancing personalized medicine and improving the health of individuals.
Last Updated: May 17, 2011
