Scientific Agenda:

The Multiple Myeloma Genomics Initiative

Genomics is the study and interpretation of genomes, or gene sequences, and their function. When it became clear that recent technological advances would enable scientists to take an unprecedented look at the blueprint of multiple myeloma, the leadership at the Multiple Myeloma Research Foundation (MMRF) decided to launch a bold endeavor aimed at rapidly accelerating progress against myeloma through the decoding of its genome.

In April 2006, the Multiple Myeloma Genomics Initiative (MMGI) was initiated. The multi-million dollar MMGI program comprises several related research and discovery efforts spanning the spectrum of genomic science. Spearheaded by the MMRF and in partnership with world-class researchers from the Eli and Edythe L. Broad Institute and The Translational Genomics Research Institute (TGen), this cutting-edge research initiative is the most comprehensive research collaboration focused on the genomics of multiple myeloma. The MMGI was the first to decode the entire genome of patients' multiple myeloma tumor cells and in July 2009 announced that it had performed deep sequencing of three myeloma genomes. Moreover, the large number of myeloma genomes that will be surveyed through this effort is certain to have a dramatic impact on our understanding of the disease at the molecular level.

The MMGI’s research and discovery programs hinge on the ability to study, analyze, and characterize a large number of myeloma patient tissue samples in great detail. This kind of research has been made possible only recently with the development of the MMRC Tissue Bank, a unique resource that houses high-quality bone marrow aspirates and matching peripheral blood samples accrued under Good Laboratory Practice (GLP) standards with corresponding clinical data. With over 4,000 patient tissue samples now accrued at the MMRC Tissue Bank and ongoing collection at sites in the US and Canada, researchers have access to the critical mass of tissue necessary to sustain this important genomic initiative.

Prior to the MMGI, there was no centralized repository of high-quality myeloma genomic data available to the scientific community to help generate critically needed new hypotheses. Also, interacting with genomic data is technically challenging, and remains a substantial barrier for data exploration and analysis. In response to these challenges, the Multiple Myeloma Genomics Portal was launched in 2007. The portal is the world's only myeloma-specific repository of genomic data and provides the scientific community with open access to high-resolution genomic data from the MMRC Multiple Myeloma Genomics Initiative pre-publication and in near real-time. In addition, data sets generated by other myelmoa genomics efforts are housed on the portal. A “workbench” of cutting-edge bioinformatics tools has been built into the MMGP to enable researchers to analyze and interpret the data. The portal now counts over 400 registered users.

New clues about the genetic determinants of multiple myeloma have started to emerge from the Genomics Initiative, but the work is not finished. In order to expand and translate these findings, a coordinated effort is required to study the functional consequences of the genomic alterations in cellular and animal models of the disease. In the future, the MMRF will support such studies so therapeutic agents that can potentially counteract the devastating effects of these genomic lesions are brought rapidly to patients whose myeloma cells carry such abnormalities. Only then will we be able to build on the foundation set for personalized medicine by the MMGI and provide to a myeloma patient the best possible treatment for his or her disease.