MDA Resource Center: We’re Here For You
Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA programs are only available in the U.S.
Long-read genome sequencing to diagnose neuromuscular disorders

Neuromuscular disorders (NMDs) comprise a heterogenous group of conditions associated with impaired nerve and muscle function that affect 1-10/100,000 individuals worldwide, the vast majority of which result from one or more genetic factors. Despite successes from single gene, gene panel, and exome or genome sequencing tests, there remains a large portion of patients suspected to have genetic NMDs but for whom no precise diagnosis can be made using current clinical or laboratory information; such patients often undergo a “diagnostic odyssey” in which many tests are conducted over many years without success. We hypothesize that many genetic variants that cause NMDs are missed by standard DNA testing methods. We will apply an exciting “long-read” genome sequencing technology called Circular Consensus Sequencing (CCS, also called “HiFi”) recently developed by PacBiosciences to a group of undiagnosed children suspected to have a congenital NMD. Preliminary data indicate that CCS/HiFi sequencing is far more accurate than standard sequencing, especially for complex genetic variants, and has great potential to detect pathogenic, diagnostic genetic variants that were previously overlooked. We aim to refine data and process quality and establish methods suitable for routine research and clinical use. Our study has potential to improve diagnostic yield and provide better information, and ultimately improve outcomes, for patients and families affected by NMDs.
Grantee: Greg Cooper, Ph.D.
Grant type: Research Grant
Award total: $294,803
Institution: HudsonAlpha Institute for Biotechnology
Country: Alabama, United States