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Figure 3 Translational research projects in LGMD

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1 Figure 3 Translational research projects in LGMD
Figure 3 | Translational research projects in LGMD. The exome sequencing projects NeurOmics, MYO-SEQ and SeqNMD have helped to identify new LGMD-related genes, and have increased the number of diagnosed patients with different forms of LGMD. Data sharing from these projects is facilitated by the rare disease platform RD-Connect, a European Union (EU)-funded project that links omics data with patient registries and biobanks. Large patient numbers are a prerequisite for systematic natural history studies, such as the International Clinical Outcome Study (COS) in dysferlinopathies, which is sponsored by the Jain Foundation. Patient recruitment and assessment is further supported by TREAT-NMD, a network of excellence for rare genetic neuromuscular diseases, initially funded by the EU. LGMD, limb-girdle muscular dystrophy. Thompson, R. & Straub, V. et al. (2016) Limb-girdle muscular dystrophies — international collaborations for translational research Nat. Rev. Neurol. doi: /nrneurol

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