January 2012--Happy Holidays! The last year has been exceptionally productive for the IGM. First and foremost we have added several new members. In a joint recruiting effort with the Department of Biostatistics at the Johns Hopkins Bloomberg School of Public Health, we recruited Steven Salzberg, Ph.D., as a professor in the IGM and the Department of Medicine. Steven is a world recognized expert in using computational methods to improve our understanding of the structure and function of genomes. As an extra benefit, Steven brought two accomplished junior colleagues, Liliana Florea, Ph.D., and Mihaela Pertea, Ph.D. With these additions to our existing faculty, the IGM has become the center of computational biology on the School of Medicine campus. We also were able to recruit an outstanding clinical geneticist, Joann Bodurtha, M.D. Read more about Joann, her accomplishments and what she brings to the IGM. We also partnered with the Kennedy-Krieger Institute to recruit one of our own trainees, Hilary Vernon, M.D., Ph.D., Hilary is a physician-scientist interested in the rapidly expanding new field of metabolomics which involves measuring and interpreting many hundreds of metabolites at once in contrast to a few at a time as we done it in the past. Finally, we asked Kathleen Barnes, Ph.D., a professor of Medicine working on the genetics of asthma to join the IGM as a primary member. Her enthusiasm and expertise in this common complex problem expands our activities on the genetics of pulmonary diseases.
In addition, in these days of increasingly scarce research funds, we are thrilled to report major awards to IGM investigators: Kathleen Barnes is the principle investigator (PI) on a $9.5 million multicenter study of genetic factors in asthma; Aravinda Chakravarti is the PI on a $9 million study of genetic factors in cardiovascular disease; and, yours truly is the PI on a $16 million four year study involving virtually all of the IGM faculty of one of three National Human Genome Research Institute funded Mendelian Disorders Genome Centers. There are many thousands of Mendelian diseases each caused by mutations in one of our species complement of 22,000 genes. There has been increasing recognition of the biomedical value of understanding these disorders not only for the diagnosis and management of the affected individuals but also for what they tell us about how human biology works. We’ve teamed up with our colleagues at Baylor College of Medicine to form the Baylor-Hopkins Center for Mendelian Genomics to spend the next four years identifying of the genes responsible for Mendelian conditions from patients around the world.
At the end of four-year study, we hope to have connected mutations in more than half of the genes in the genome and their clinical consequences or phenotypes. This information will enable us to ask fundamental questions about the “rules” of disease. For example are there a few genes that account for a disproportionately large number of diseases and if so why? We are excited about this challenge and the opportunities it affords. I look forward to updating you on our progress as the study proceeds
Read on. And as always, I welcome your feedback. Please email me at firstname.lastname@example.org.
David Valle, M.D.
Henry J. Knott Professor and Director
McKusick-Nathans Institute of Genetic Medicine