Stay informed. See MDA updates on COVID-19
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.
Muscular Dystrophy Association National Office
161 N. Clark, Suite 3550
Chicago, Illinois 60601
800-572-1717 | ResourceCenter@mdausa.org
The Muscular Dystrophy Association (MDA) is a qualified 501(c)(3) tax-exempt organization.
©2021, Muscular Dystrophy Association Inc. All rights reserved.
2021, Muscular Dystrophy Association Inc. All rights reserved.