The uOBMRI’s Dr. Hanns Lochmüller’s research is featured in a recently published study in Nature Medicine titled, “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses,” which is the result of a greater international project by the Solve-Rare Diseases Consortium (Solve-RD).
This publication is a large multidisciplinary research effort that brought together experts across Europe and Canada to re-analyze data from over 6,000 families with previously unsolved rare diseases. Dr. Lochmüller’s work is achieved through the coordination of Senior Lead Ana Töpf and CHEO RI postdoc Kiran Polabarapu, who led the reanalysis of the neuromuscular disease cohort of 1,500 families. Their work has provided 138 successful diagnoses.
You can read the full article here.