First RDMM-Europe project published

Solve-RD partners Ana Töpf and Volker Straub (John Walton Muscular Dystrophy Research Centre), together with Conrad Weihl and collaborators (Department of Neurology, Washington University School) have published their joint project in Acta Neuropathologica: "Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure". Conrad Weihl was one of the first scientists that received Seeding Grant funding from Solve-RD within the European Rare Disease Models & Mechanisms Network (RDMM-Europe) to validate a novel disease-causing gene identified by Ana Töpf and Volker Straub.

Weihl, C.C., Töpf, A., Bengoechea, R. et al. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta Neuropathol (2022). https://doi.org/10.1007/s00401-022-02510-8.