Dr. Richard Lemmers, working in Dr. Silvère van der Maarel’s laboratory at the LUMC in Leiden, The Netherlands, was awarded the World Muscle Society's President Prize for Young Myologist of the Year. Dr. Lemmers received this prestigious price during the 16th International World Muscle Society Meeting 2011 in Faro, Portugal, for his significant contributions to FSHD research.

FSHD affects 1 in 20,000 people, and is mainly characterized by a progressive weakness and wasting of muscles in the face, shoulders and upper arms.  About 20 years ago, researchers found the disease to be associated with a shortening of a repetitive DNA sequence on chromosome 4.  In the following period several candidate genes were identified amongst one, called DUX4, that was encoded within the repetitive chromosome 4 sequence, but none of them were conclusively found to play a key role in FSHD. Dr. Lemmers and co-workers identified several variants  of this repetitive DNA sequence and showed in a large cohort of FSHD patients and controls that only shortening of a specific variant caused FSHD, while shortening of other variants were harmless. Subsequently, they were able to identify the sequence variation in the DUX4 gene that was responsible for the difference in pathogenicity. It was shown that patients with FSHD produce a protein encoded by the DUX4 gene which is toxic to muscle cells. The study by Dr. Lemmers and co-workers showed that the sequence variation present in people with FSHD increased the stability of the DUX4 RNA, allowing sufficient time to produce the toxic DUX4 protein in muscle cells of affected individuals. Dr. Lemmers was the lead author in the fundamental Science journal article in collaboration with laboratories in Seattle, Rochester, Nijmegen, Nice and San Sebastian that provided the first solid proof that the DUX4 gene played a major role in causing FSHD. Based on this study all current FSHD research is mainly based on the role of DUX4 in the disease process and how to silence its effects.