LGMD-1D DNAJB6 Foundation
LGMD1D DNAJB6 Foundation and Registry is a nonprofit organization, 501 (c)(3) focusing on rare forms of muscular dystrophy.
Phase 1: The explosion in genetic research and cures have not reached all who could benefit. Patients with limb girdle muscular dystrophy (LGMD) represent a vastly heterogeneous population but share a common pathway to cure, that is, gene therapy. Patients with LGMD-1D type muscular dystrophy and other autosomal dominant MD are usually not discovered but languish in general neurology clinics while active research is ongoing in distinguished medical centers. These patients need to be found, they need to be gathered for important "natural history" studies as genetic research centers need to start work on a cure. This preliminary leg work and logistical support is often not covered by research grants. Furthermore some impoverished patients need to travel to remote centers for data collection, again not covered by grants. Our focus at The LGMD-1D Foundation is to raise funds to fill this preclinical gap and to assist as we can to patients' financial needs in pursuit of research goals. We also serve as an important registry for the underrepresented group of autosomal dominant LGMDs which comprise only 20% of all LGMDs.
Phase 2: Many LGMD patients do not have access to genetic diagnostic services and with the help of sponsored testing the Foundation has been able to help many people arrive at a genetic diagnosis. We plan to continue this service as funding allows.
Phase 3: Our Patient Action Committee (PAC), MYOSYND (https://lgmd1d.org/lgmdwp),
has been part of legislative actions in Washington to lobby for nationwide telemedicine adoption for those who truly cannot travel for physical or financial reasons to centers of excellence. In addition, we are lobbying for increased access to genetic testing for those in need.
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