The sequencing of the human genome in 2001 was hailed as the beginning of a new era in biomedical research. Sixteen years later we can look back and have a better appreciation of both the power and the limitations of the sequence itself and of how it has been used in research and clinical contexts. During this period, the importance of understanding human genetic variation has driven continued development of better and cheaper sequencing technology. The utility of whole genome sequencing as a clinical test has been demonstrated for diagnosis of genetic disease in newborns and for treatment selection in cancer, and several groups are now pursuing genome sequencing of healthy individuals in the interest of risk assessment and disease prevention. In addition, inexpensive and high-output sequencing has dramatically transformed research, with many assays of genome function now being addressed in a comprehensive way using sequencing – including analysis of gene expression, gene regulation, chromosome organization, and mutation. The sequencing of model organisms such as mouse, dog, and hundreds of others, has also contributed to the value of comparative genome analysis for predicting functional regions of the human genome.
Yet at the same time, the functions of most human genes are incompletely understood, fundamental new regulatory systems are still being discovered, and the extent of cellular variation in gene expression is still being explored. And in the last several years, we have begun to realize the importance of the human microbiota as an integral part of our physiology. The vast genetic landscape of the microbiome comprises a new way of understanding human variation and presents new opportunities for clinical intervention. This presentation will summarize the advances that have been made in understanding how the human genome functions and will consider future applications for genome-based medicine.
- How the human genome was sequenced and the nature of key findings
- How our understanding of human genome function has advanced in the last sixteen years, driven by sequence-driven comprehensive analyses
- How knowledge of human genetic variation is making its way into healthcare practice
- How researchers are studying the contributions of the dynamic and diverse human microbiome to human physiology and disease
- Recognize important milestones in human genome sequencing and analysis.
- Be able to describe how advances in sequencing technology have contributed to understanding of human genome variation and gene function.
- Be able to evaluate potential applications of genome and microbiome information in the context of healthcare.
Affiliations: The Jackson Laboratory
Mark Adams has a rich background including industry, government, academic, and nonprofit settings. Throughout, he has focused on applying leading edge genomic and bioinformatic approaches to a variety of research problems in biology. As one of the founding scientists at The Institute for Genomic Research in 1992, he contributed extensively to the first genome sequence of a free-living organism, Haemophilus influenzae, and other microbial genomes. As co-founder of Celera Genomics, he led the DNA sequencing and genome annotation groups. He directed the Drosophila, human, and mouse genome sequencing projects, and a large-scale re-sequencing program to identify novel SNPs in humans. From 2003-2011, Dr. Adams was Associate Professor of Genetics at Case Western Reserve University where he developed a research program in the evolution and mechanisms of antibiotic resistance in the nosocomial pathogen Acinetobacter baumannii. He also served as Director of the Genomics Core facility. From 2011-2016, Dr. Adams was the Scientific Director and Professor at the J. Craig Venter Institute. There he directed programs that characterized genomic changes in the evolution of antibiotic resistance in hospital-acquired infections. Dr. Adams is currently Director of Microbial Genomic Services at The Jackson Laboratory for Genomic Medicine in Farmington, CT, where he leads programs related to understanding of the role of microbes in human health, disease, and treatment response. Dr. Adams received a B.A. in Chemistry from Warren Wilson College in Swannanoa, NC and a Ph.D. in Biological Chemistry from the University of Michigan.