Annemieke Aartsma-Rus is professor of translational genetics at the Department of Human Genetics at the LUMC. She has a visiting professorship with the John Walton Muscular Dystrophy Research Center at the Institute of Genetic Medicine of Newcastle University. In 2011 she received the Duchenne Award from the Duchenne Parent Project for her dedication and research in Duchenne Muscular Dystrophy. In 2021 she received the Black Pearl Science Award from Eurordis. From 2016 she is the most influential researcher in the field of Duchenne based on her scientific publications according to expertscape.

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Annemieke Aartsma-Rus is professor of translational genetics at the Department of Human Genetics at the LUMC. She has a visiting professorship with the John Walton Muscular Dystrophy Research Center at the Institute of Genetic Medicine of Newcastle University. In 2011 she received the Duchenne Award from the Duchenne Parent Project for her dedication and research in Duchenne Muscular Dystrophy. In 2021 she received the Black Pearl Science Award from Eurordis. From 2016 she is the most influential researcher in the field of Duchenne based on her scientific publications according to expertscape.

Translational genetics

Due to the rapid innovation in genetic analysis methods the number of diagnoses of genetic diseases has increased significantly recently. The identification of genetic causes of diseases is often a first step in developing potential therapies. Often this involves genetic approaches, where the aim is to add or repair a missing gene or gene product, or to reduce the amount of a toxic gene product.

Therapy development happens in different steps. First the feasibility of the approach needs to be confirmed in model systems. Next, optimization and assessment of safety needs to take place in model systems. Then the approach can be translated into humans and tested in clinical trials When the approach is deemed safe and effective and clinically relevant for patients, the therapies can be approved and marketed. As such, translational research involves multiple stakeholders: scientists, clinicians, patients and regulators and often also pharmaceutical industries.

An example of successful translational research is the exon skipping approach for Duchenne muscular dystrophy. This progressive muscle-wasting disease is caused by the lack of dystrophin protein. The exon skipping approach, pioneered amongst others by the LUMC, aims to restore the genetic code for dystrophin to enable Duchenne muscle cells to produce a partially functional dystrophin. This mutation specific therapy has been extensively tested in model systems and in patients in clinical trials. The approach has been approved by the Food and Drug Administration (FDA) in the US and is under evaluation by the European Medicines Agency (EMA). The approved therapy results in a minor delay in disease progression and applies to 30% of patients. As such there is clear room for improvement. The current work of Prof. Aartsma-Rus aims to optimize the exon skipping approach for Duchenne, develop therapies in model systems and to develop therapeutic approaches for patients with very rare brain disesease.

Academic career

Prof. Dr. Annemieke Aartsma-Rus played an important role in the development of antisense-mediated exon skipping therapy for Duchenne muscular dystorphy during her PhD research (2000-4) at the Department of Human Genetics of the LUMC. She obtained her PhD on February 10 2005. In 2007 she became group leader of the Duchenne exon skipping group, first as assistant professor, in 2010 as associate professor and since 2015 as a full professor. Her inaugural lecture was spoken on June 17 2016 and was titled "Lost in translation when transitioning from fundamental to applied research".

Since 2013 Prof Aartsma-Rus holds a visiting professorship at Newcastle University (UK).

Prof. Dr. Aartsma-Rus has published more than 250 scientific publications. Since 2016 she was selected by Expertscape as the most influential scientist in the Duchenne field, based on contributions of the past 10 years. She is also involved in networking efforts and multilateral education of the stakeholders involved in therapy development (academics, regulators and patients) through workshops and training schools.

Involved Themes for Innovation LUMC:

• Academic Pharma
• Genetics
• Neuroscience

Prizes and honourable appointments

• 2011 Duchenne Award from Duchenne Parent Project the Netherlands
• 2014 Admitted to the Jonge Akademie (the junior section of the Dutch Royal Academy of Sciences, consisting of the 50 most prominent Dutch scientists below 45 years of age)
• 2017 Elected as future President of the Oligonucleotides Therapeutics Society (for the 2018-2019 term)
• Executive committee member of the TREAT-NMD alliance (Chair from 2013-2016)
• Member of the scientific committee of the International Rare Disease Research Consortium (IRDiRC)
• Member of the Patient Engagement for Rare Diseases taskforce of the IRDiRC
• Member of the board of the Leiden Network for Personalized Therapeutics
• Member of the scientific advisory boards of ProQR, MirXX therapeutics and Philae Pharmaceuticals
• Member of the scientific advisory board of the following patient organizations:
  • Duchenne Parent Project, Netherlands
  • Little Steps, Israel
  • Neurofibromatosis stichting, Netherlands
  • Duchenne Annihilation Research Trust, India
  • Beards4Duchenne
  • Duchenne UK
  • Molecular and pathophysiological basis of muscular dystrophies scientific counsel (association Francaise contre les myopathies)