The limb-girdle muscular dystrophy (LGMD) branch of the Rare Genomes Project is a partnership with the Muscular Dystrophy Association and the Jain Foundation dedicated to diagnosis and gene discovery through whole genome sequencing for individuals and families with LGMD.
The limb-girdle muscular dystrophies are a group of muscle diseases characterized by weakness and wasting of the muscles in the hips, legs, shoulders, and/or other proximal muscles. There are currently over 30 known forms of LGMD, with a diverse range of clinical signs and symptoms, that collectively are estimated to affect as many as 1 in 15,000 individuals.
Multiple studies estimate that roughly half of those undergoing genetic testing do not have a causative DNA variant in any of the known LGMD-causing genes. This project enables individuals who have had negative or incomplete results from prior genetic testing to participate in a study using whole-genome sequencing (WGS) to search for additional causes of LGMD.
Our efforts will focus on individuals and families who:
*If you are unsure whether you have a clinical diagnosis of LGMD or you have not had prior genetic testing for your LGMD, you may still be eligible to participate and are encouraged to apply by clicking here.
Click Apply to see a broad overview of the study and learn how you can start an application. The information will be reviewed by our study team, and eligible families will be invited to participate. We will arrange a time to have a detailed discussion about the study and send a consent form.
Once enrolled, we will mail a pre-paid sample collection kit directly to you and your family. We will also ask you more about medical history and ask for copies of medical records including any prior genetic test results.
Through DNA sequencing, we may discover the genetic cause of the rare disease in your family and will work with your and your doctor to return important results to you. We will also share de-identified data broadly with the scientific community to empower discoveries in rare disease research.
Additional information and resources for individuals with LGMD are can be found here: Muscular Dystrophy Association, GeneReviews, and the U.S. National Library of Medicine Medline Plus.
