Dr. Blakesley directs the Sequencing Group of the NIH Intramural Sequencing Center (NISC). His group is responsible for high-throughput generation of DNA sequence data using state-of-the-art automated instrumentation. Established in 1997, NISC is a multidisciplinary genomics facility tasked with the generation and analysis of DNA sequences.
Dr. Blakesley has had a career-long scientific interest in providing practical technological solutions to research problems. He spent more than 20 years in an industrial molecular biology research and development laboratory developing products in a variety of areas, including nucleic acid enzymology, purification and manipulation of nucleic acids, apparatus and software design, and DNA sequencing. His current work focuses on increasing the value of NISC's sequencing pipeline by implementing new technologies that provide greater versatility and capacity while increasing overall operational efficiency, reducing costs, and applying good manufacturing principles.
Dr. Blakesley oversees NISC's role in several large DNA sequencing efforts. For example, the medical sequencing program at NISC is providing sequence data to many NIH investigators in order to discover a link between sequence variants and disease. NISC has provided ClinSeq, its largest collaborative project, with sequences of 250 genes from DNA of >500 volunteer subjects processed through the NIH Clinical Center who demonstrate various levels of atherosclerosis. In the next several years, NISC will expand sequencing to include data from nearly 18,000 human genes of 1000 participants. One of ClinSeq's first goals is to investigate some of the technical, medical and genetic counseling issues involved in implementation of large-scale DNA sequencing in the clinical setting. NISC is also generating human sequence data for the NIH Undiagnosed Diseases Program, which integrates clinical and genomic research for patients with mysterious conditions that have long eluded diagnosis. A third area of medical sequencing involves genomic DNA from matched pairs of tumor and normal patient samples for investigators searching for somatic changes associated with several specific cancer types.
In another large effort for NISC, the Comparative Sequencing Program involves generating genomic sequences from multiple vertebrates - currently 75 species - for comparative analyses. In this project, targeted genomic regions (>200) are selected for study and then sequenced. The resulting data consist of sets of orthologous sequences for the same large genomic region from multiple species. Through comparative sequence analysis, a number of discoveries of conserved noncoding elements are now targeted by collaborating investigators for functional studies. NISC also generated sequence data for the ENCODE (ENCyclopedia Of DNA Elements) project, an NHGRI-led initiative that aims to identify all the functional elements in the human genome. Its initial sequencing effort was a pilot-scale program that focused on 1 percent of the human genome, distributed across 44 discrete regions.
NISC is a major participant in the NIH Intramural Skin Microbiome Project. As part of this transdisciplinary collaboration, NISC is providing complete sequencing of microbial genomes from clinical isolates in order to catalog new clinically important species and to understand the variety and persistence of antibiotic resistance in known species. In addition, metagenomic sequencing of rRNA genes is being used to identify microbial community members and their relative abundance in and on the skin of patients with atopic dermatitis.
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Last Updated: May 18, 2014