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Annemieke Aartsma-Rus, PhD

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Dutch Center for RNA Therapeutics

Leiden, The Netherlands

Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. She played an important role in the development of antisense mediated exon skipping for Duchenne muscular dystrophy during her PhD research (2000-2004) at the Leiden University Medical Center (the Netherlands). As of December 2007 she became leader of the “DMD exon skip group”. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK). In 2020 she co-founded the Dutch Center for RNA Therapeutics (DCRT), a not-for-profit academic collaboration aiming to develop clinical treatment with exon skipping therapies for eligible patients with unique mutations.

Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy and other rare diseases. This involves work in cell and animal models to improve efficiency of exon skipping, studies in muscle pathology, the identification of biomarkers, studying the basics of pre-mRNA splicing and transcript processing and the generation and detailed analysis of mouse models. Finally, she aims to bridge the gap between stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases and to develop exon skipping therapies for patients with unique mutations.

She has published over 220 peer-reviewed papers, 11 book chapters, 15 patents and has edited a book. She has given many invited lectures at scientific conferences and patient organization meetings, where she is known for her ability to present science in a clear and understandable way. She created and maintains an overview of different therapeutic approaches for Duchenne on the TREAT-NMD website (https://treat-nmd.org/research-overview/dmd-research-overview/).

In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of her dedication to the Duchenne field. In 2020 she received the Black Pearl Science Award from Eurordis for her work in educating patients. In 2021 she received the Ammodo Science Award for her contribution to developing exon skipping therapies for Duchenne and the outstanding achievement award from the Dutch Society of Gene and Cell Therapy for her work. She has been selected as most influential scientist in Duchenne muscular dystrophy in the past 10 years by Expertscape based on contributions to the understanding and treatment of Duchenne muscular dystrophy annually since 2015.

She is President of the Oligonucleotide Therapeutics Society (2019-2021), is vice-chair of COST Action CA17103 (Delivery of antisense RNA therapies), chair of the TREAT-NMD Advisory Committee for Therapeutics (TACT) and was Chair of the TREAT-NMD executive committee (2013-2016 and 2019-2020). She was a junior member of the Dutch Royal Academy of Sciences (DJA), consisting of the top 50 scientists in the Netherlands under 45, from 2014-2019. She is one of the coordinators of the Oligonucleotide Therapeutics Society Taskforce for the development of N-of-1 oligonucleotide treatments and part of the core group of the N-of-1 collaborative and 1 mutation 1 medicine (1M1M) network. 

She has successfully applied for numerous grant applications, including a VIDI award (€800,000) from the Dutch government (ZonMw) in 2009 and collaborative grants in 2012 (Rare Disease Program, €3,000,000) and 2021 (PSIDER, €4,000,000). She is/was involved in multiple EU projects, e.g. TREAT-NMD (FP6), Bio-NMD (FP7), NeurOmics (FP7), BIND (Horizon2020) and COST Actions BM1208 and CA17103.

She has been instrumental in setting up training courses, e.g. TREAT-NMD Duchenne masterclasses, the TREAT-NMD/EURO-NMD translational summer school and a COST training school on oligonucleotide therapy development (2020). She is a member of the Therapies Scientific Committee of the International Rare Disease Research Consortium (IRDiRC). She is co-editor in chief of Nucleic Acid Therapeutics, and serves on multiple editorial boards, e.g. Journal of Neuromuscular Diseases (associate editor), Molecular Therapy and Therapeutic Advances in Rare Disease.