Dr. Annemieke Aartsma-Rus is associate professor at the Dept of Human Genetics of the Leiden University Medical Center (the Netherlands).
She played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy.
Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. This involves work in cell and animal models to improve delivery and efficiency of exon skipping compounds, studies in muscle regeneration and pathology, the identification of biomarkers, studying the basics of pre-mRNA splicing and transcript processing and the generation of mouse models. In addition, in collaborative efforts she aims to develop the exon skipping approach as a therapeutic option for other rare diseases.
In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences, which consists of what are considered the top 50 scientists in the Netherlands under 45.
She is chair of the COST Action “Networking towards clinical application of antisense-mediated exon skipping for rare diseases”, and of the executive board of the TREAT-NMD alliance. She is a member of the scientific counsel “Molecular and pathophysiological basis for muscular dystrophies” of the Association Française contre les Myopathies (AFM) and a member of the board of directors of the Oligonucleotide Therapeutics Society. She serves on multiple editorial boards, e.g. Journal of Neuromuscular Diseases (associate editor), Nucleic Acid Therapeutics and Cardiovascular Genetics and Genomics.
She is a member of the TREAT-NMD project ethics counsel and of the TREAT-NMD Advisory Committee for Therapeutics (TACT).
