CAMBRIDGE, Mass.—Biogen, the ALS Association and Columbia University Medical Center (CUMC) are joining forces in a new collaboration aimed at better understanding the differences and commonalities in the ALS disease process and how genes affect the clinical features of the disease. Through the use of next-generation sequencing and detailed clinical phenotyping in 1,500 ALS patients, the project, “Genomic Translation for ALS Clinical care,” will seek to provide a basis for bringing precision medicine to ALS by developing more tailored therapies. One of the goals is to lay the groundwork for a nationwide effort to ensure the genomic characterization of all ALS patients.
“We know that ALS is not just one disease,” Tim Harris, senior vice president of Precision Medicine at Biogen, noted in a statement. “This study will help in developing a detailed understanding of how different genes contribute to different clinical forms of ALS. This will in turn help us design better, more focused clinical trials for the development of more effective treatments. This kind of ‘precision medicine,’ in which a treatment is tailored to a person’s unique genetic make-up, is already being used in the cancer field. It is an approach we feel is ready for ALS too.”
“This project will provide a clinical deliverable to the 1500 patients that participate in the study,” added Dr. Matthew Harms, who will lead the project and be joining CUMC in the fall as an assistant professor of neurology. “We will use our extensive database of ALS genomes and exomes to carefully identify definitive genetic risk factors for ALS and these risk factors will be communicated back to participating clinics. The database we create will allow for an unprecedented investigation of the clinical correlates of the genetic causes of ALS.”
The clinical data amassed under this project will be collected and curated through the NeuroBank system at the Massachusetts General Hospital, with cell lines to be developed at Cedars-Sinai. Participating clinical sites so far include the Cedars-Sinai Board of Governors Regenerative Medicine Institute, Columbia University Medical Center, Duke Medical Center, Houston Methodist, the Scotland ALS clinic network, University of Minnesota and Hennepin County Medical Center, University of Utah, University of Washington and Washington University in St. Louis. Patient blood cells will be stored at the Induced Pluripotent Stem Cell (iPSC) Core at the Cedars-Sinai Board of Governors Regenerative Medicine Institute.
“The ability to create patient iPS cells from such a genetically well-annotated ALS blood repository will allow us to model causes of motor neuron degeneration in ALS at a scale that has never been possible,” said Dhruv Sareen, Ph.D., who leads the Cedars-Sinai iPSC Core.
Funding for this undertaking comes from Biogen's $30-million strategic alliance with CUMC, as well as the ALS Association, which is contributing $3.5 million from the funds raised through the Ice Bucket Challenge. The ALS Association is also a supporter of the iPSC Core.
“We want to bring genomics right to the point of care in ALS where instead of focusing on retrospective DNA samples with limited clinical information, we focus on patients who are under active clinical management,” remarked ALS Association Chief Scientist Dr. Lucie Bruijn. “By focusing on patients seen by participating ALS clinics, this project will allow investigators to ask how different genetic causes of ALS translate into different clinical consequences.”
SOURCE: Biogen press release