The low prevalence of similar rare muscle disease patients means that recruiting for a study with in-person visits is often infeasible, Daniel MacArthur said. Working with MDA, we have developed the Rare Genomes Project to give patients the opportunity to participate in a research study no matter where they live.

Daniel MacArthur, co-director of medical and population genetics at the Broad Institute of Harvard and MIT in Cambridge, Mass., was awarded an MDA research infrastructure grant totaling $110,000 to create a neuromuscular disease-specific platform for the Rare Genome Project, which will provide more individuals living with neuromuscular diseases access to a definitive diagnosis, through advanced genome sequencing techniques.   

This new partnership between the Broad Institute and MDA will focus on two groups: individuals with rare diseases for which onset occurred before the age of 13 years, and those who have gone through MDA’s LGMD genetic testing program and did not receive a definitive diagnosis.

Two MDA co-branded web portals will be developed through which participants can complete questionnaires. Information will be collected on demographics, symptoms and affected family members.