HomeResearchIntramural ResearchResearch Branches at NHGRIGenome Technology Branch Bouffard Lab

Gerard Bouffard, Ph.D. Associate Investigator Genome Technology Branch Director Bioinformatics Group B.S. University of Vermont, 1984 Ph.D. George Washington University, 1994 (802) 656-9990 (802) 656-4574 bouffard@mail.nih.gov 5625 Fishers Ln Room 5S-16C, MSC 9400 Rockville, MD 20892-9400 Selected Publications NIH Intramural Sequencing Center [nisc.nih.gov] The Mammalian Gene Collection [nci.nih.gov] Hembase: Hematopoietic Cell Expression Database [niddk.nih.gov]

Dr. Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC). In this role, he oversees the management and analysis of data from one of the country¿s premier DNA sequencing facilities. His main focus is a major comparative genomics project¿ an effort to compare the human genome with that of other vertebrates to reveal important, unrecognized common sequences and to begin unraveling their function. He also is engaged in helping several other NIH investigators whose research requires analyses of DNA sequences.

To cope with NISC¿s large sequencing throughput and data generation, Dr. Bouffard has directed the development of a customized, NISC-specific Laboratory Information Management System. This system controls the flow of samples and materials through the laboratory, identifies reagents and equipment with bar codes, and records the people and tools involved at every stage. This detailed control is aimed at providing efficient flow control, flexibility to rush high-priority tasks through the system, and a backtracking capability for monitoring sequence quality.

The NISC Comparative Sequencing Program is a large-scale effort to compare discrete segments of various species¿ genomes. So far, it is confined to vertebrates, with tens of species spanning millions of years of evolution. Dr. Bouffard¿s bioinformatics staff is assimilating and comparing sequences from primates, other mammals, marsupials, monotremes, birds, and fish.

He also is involved in NHGRI¿s ENCODE (Encyclopedia of DNA Elements) Project, aimed at identifying all the functional elements in the human genome. For this project, scientists at NHGRI and elsewhere are applying current technologies¿and testing potential new technologies¿ to study 44 regions that taken together comprise one percent of the human genome. Dr. Bouffard¿s group is helping to generate and analyze sequences of these regions in multiple other species.

His group¿s other major project is the Mammalian Gene Collection (MGC), which is an effort to build a repository of clones and associated sequences representing every human gene and to make them available to scientists worldwide. MGC has now expanded to include mouse, rat, zebrafish, and Xenopus genes. Initially, MGC scientists scoured existing complementary DNA (cDNA) libraries to build their collection. Now that those sources are rarely turning up novel, previously unseen cDNAs, they are using more directed strategies, such as generating cDNA libraries from different tissues to find genes that might be expressed only in particular tissues under specific conditions.

Dr. Bouffard also collaborates with other NIH scientists on an as-requested basis. For example, his group recently analyzed a large number of expressed sequence tags (ESTs) for researchers at the National Eye Institute who are trying to identify all the genes that are expressed in tissues related to vision. In addition, his group analyzed about 5,000 blood cell ESTs for the National Institute of Diabetes and Digestive and Kidney Diseases in a study that identified the gene responsible for a clinically important blood group system. This finding paved the way for tests that will reduce transfusion dangers for certain people.

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Last Updated: February 2, 2009