Mission Statement:

Directed by Dr. Avrum Spira, the Bioinformatics and Systems Biology program at the Boston University Pulmonary Center consists of groups of Pulmonologists and Bioinformaticians involved in translational research into lung biology and disease. The long terms goals of this program are to apply and stimulate the development of post-genomic technologies and computational tools for translational research into human disease and to train physician-scientists and graduate students who can apply these tools in a clinical setting.



With the complete sequence of the human and other genomes recently elucidated, we have witnessed an explosion of information and high-throughput tools that are profoundly altering biomedical research and the culture of science. The reference genomes combined with advances in the biotechnology sector have produced an exponential growth in the amount and types of data available regarding biological systems. These developments are altering the paradigm of biological research, from traditional studies of single genes or pathways to large scale studies that combine data-mining of high-throughout datasets (i.e. cDNA microarray experiments) for hypothesis generation with experimental work for validation. The reference human genome has also allowed us to rapidly characterize polymorphisms across the human population, and has also enabled molecular fingerprinting technologies that can identify the precursors and consequences of normal and pathological changes in gene and protein expression.

Driven by this large and rapidly increasing amount of data over the last several years, the discipline of Bioinformatics has emerged whose goal is to apply the techniques from computer science, such as data manipulation and pattern discovery techniques, to solve problems in molecular biology. The field of Bioinformatics has now begun to move beyond the genome-wide study of individual biological components (i.e. genes or proteins) to integration of interactions and relationships between various components of the biological system, to provide an understanding of the whole biological system (i.e."Systems Biology").

High throughput platforms employed for Systems Biology. The three major technologies responsible for rapid analysis of biological systems include mass spectrometry, sequencing, and microarrays. Examples of each technology have been listed as applied to each broad stage of biological information - DNA, RNA, and protein.

The Bioinformatics and Systems Biology Program strives to apply and develop computational tools that can be used to mine data from high-throughput translational research studies ongoing within the Pulmonary Center. This program combines expertise in designing and running genome-wide studies of gene and protein expression (using cDNA microarray and mass spectrometry) on clinical specimens with high-throughput data storage and analysis capabilities (see figure below). The scientists affiliated with this Program combine talents of molecular biologists with mathematicians, statisticians, epidemiologists and computer scientists. A number of the ongoing projects within the program are described below. This program along with the SMOKING-RELATED LUNG DISEASES program directed by Dr. Jerome Brody together form the Pulmonomics Lab at Boston University Medical Center.

Our program also serves to train Bioinformatics and Pathology graduate students and clinician- scienists in the application of these tools to clinical studies. In conjunction with the Dr. Charles DeLisi at the College of Engineering at BU, we have developed a Masters Program in Clinical Bioinformatics (MD track) whose goal is to train physicians who will be leaders in applying and stimulating the development of post-genomic technologies to clinical research and the practice of medicine.