Boston University Medical Campus
Medicine

The Genetics Program is a multi-disciplinary, cross-sectional unit, the missions of which are to foment and provide leadership in human and medical genetics research, and extend and develop new genetics curricula for graduate and medical students and M.D. fellows seeking academic research careers. Lindsey Farrer, Ph.D., Chief of the Genetics Program, and Professor of Medicine, directs the Genetics Program, an internationally recognized program that incorporates both clinical and basic research. Under Dr. Farrer’s direction, the Genetic Epidemiology Center designs and directs National Institutes of Health (NIH)- and industry-sponsored multi-center projects aimed at identifying genes and gene-environment interactions for complex diseases. The program houses the Molecular Genetics Core facility and an Information Technology Unit.

The Genetics Program welcomed two new faculty members this past year. Marcia Wilcox, Ph.D., Assistant Professor of Epidemiology, is a genetic epidemiologist and an expert in family-based association studies. She has assumed a leadership role in genetic analysis for the New England Centenarian Study and in genetic studies of neuropsychiatric illness. Clinton Baldwin, Ph.D, Professor of Pediatrics, and a member of the Center for Human Genetics, was nominated for a joint appointment in the Genetics Program. In addition to directing the molecular genetics components of several studies involving other Section faculty, he will serve as the scientific advisor to the Molecular Genetics Core facility. A search is in progress for another faculty-level molecular geneticist who will add new dimensions to the Section and Department.

During the past year, activities in the Genetics Program increased significantly in several areas. The Information Technology (IT) Unit established a secure and flexible local area network for the Section and standardized protocols on personal and workstation computers. With the addition of several new, large, multi-center genetic studies last year, the IT Unit created new applications for scanning and storing data from questionnaire forms. The Unit also designed systems for conducting questionnaire interviews via laptop computer and acquiring primary epidemiological and genetic data over the Internet.

The IT Unit manages multi-user workstation systems for computational genetics projects, bioinformatics, and the new Laboratory Information Management System underpinning all activities of the Core facility. This year, a 24-node (48 processor) IBM Linux cluster, capable of handling CPU-intensive analytic projects (including those that can exploit parallel processing), was added to the computer network. This system, which has already facilitated analysis of data for several genome scan projects, is the model for an even larger shared system being sought for the medical campus.

The Molecular Genetics Unit Core facility greatly expanded its role in research activities at Boston University. Last year, it provided DNA extraction, sequencing, and genotyping services to more than 125 laboratories from twenty-six departments (including fifteen sections of the Department of Medicine) from five schools on two University campuses. The Core performs DNA extractions from various tissues and now offers sequence analysis software. The Core participated in the design of several large research projects that are now funded by NIH.

To further automate and integrate technical, computational, and administrative activities in the Core, a significant investment was made in a Laboratory Information Management System (LIMS) and a large, dedicated workstation computer. The LIMS will enable barcode handling, efficient and flexible sample tracking, optimization of workflow, service request via web-browser, protocol export to instruments, ABI sample sheet generation, work request tracking, compressed data archiving, electronic results distribution, and electronic billing. The LIMS should be operational in late 2002.

The Genetics Program’s highly productive research programs in Alzheimer’s disease (AD) continue to expand and gain a profile locally, nationally, and internationally. Drs. Farrer and Baldwin, working with scientists at Case Western Reserve and Tel Aviv universities, have narrowed the locations of Alzheimer’s genes on several chromosomes in an Israeli-Arab community with the highest known incidence of the disorder in the world. Robert Green, M.D., M.P.H., Associate Professor of neurology, serves as the Clinical Core Director for Boston University’s Alzheimer Disease Center. He also serves a principal investigator of several large NIH-funded clinical genetic studies of AD and industry-sponsored AD drug trials.

Based on the accomplishments of Drs. Farrer and Green, the National Institute on Aging awarded the Alzheimer Disease Center supplemental funding to participate in its Genetics Initiative. The NIH infused Dr. Farrer’s internationally renowned MIRAGE (Multi Institutional Research on Alzheimer Genetic Epidemiology) Study with a five-year, $13 million grant to compare variations in genes related to vascular functioning with disease risk and pre-clinical changes evident on MRI scans of the brains of 1,000 white, African- and Asian-American AD families.

The Genetics Program continues to play an integral role in expanding existing, and developing new, cross-sectional research programs. Section faculty are working with members of the Hypertension section on the Hypertension SCOR Program dedicated to identifying genes for hypertension and blood pressure regulation disorders. In addition, Section faculty are working with the Cardiovascular section on the Atherosclerosis SCOR Program, part of which is focused on genetic modulators of endothelial dysfunction. Faculty members are also working with the Pulmonary section on the genetics of severe asthma.

NIH grants were obtained for two new projects pursued in collaboration with the Hematology/Oncology section. This research is aimed at identifying genes influencing the severity and expression of sickle cell anemia. One of the most exciting developments is a new collaboration between the Genetics Program and the Geriatrics section on the New England Centenarian Study, under the direction of Thomas Perls, M.D., M.P.H., who joined the Section of Geriatrics earlier this year. Drs. Farrer, Baldwin, and Wilcox direct the genetics research for this study, which is funded by the NIH, the Institute for the Study of Aging, and the Ellison Foundation.

Based on the initial discovery of a locus on chromosome 4 for exceptional longevity by Dr. Perls and colleagues at Harvard University and MIT, a new biotechnology company called Centagenetix was formed. A comprehensive licensing agreement between the company, Boston University, and Boston Medical Center (BMC) will provide incalculable opportunities for BU researchers, not only for genetic studies of exceptional longevity but also for the potential utilization of tissues specimens from the unique centenarian cohort in genetic and biochemical studies of diseases of mid- and late life.

Visit the Genetics Program website.