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Eurordis - Rare Disease Europe


Lesson 2: Translational research: what, why, how, and with whom?

Expert: Annemieke Aarstma-Rus
Leiden University Medical Centrum, Leiden, The Netherlands

Read more about the expert
Annemieke Aarstma-Rus
Leiden University Medical Centrum, Leiden, The Netherlands

Annemieke played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy during her PhD research (2000-2004) at the Leiden University Medical Center, Department of Human Genetics (the Netherlands).

In December 2007 she became leader of the DMD exon skip group first, as assistant professor and is currently a professor at the Department of Human Genetics. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK). In 2015 she was selected as the most influential scientist in Duchenne muscular dystrophy in the past 10 years (2006-2015) by Expertscape based on contributions to the understanding and treatment of Duchenne muscular dystrophy. In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of this work and her dedication to the Duchenne field. In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences, consisting of those considered to be the top 50 scientists in the Netherlands under 45.  She has successfully applied for numerous grant applications, including a prestigious VIDI award (€800,000) from the Dutch government in 2009.

She coordinated a stakeholder meeting involving academics, industry, regulators and patient representatives hosted by the European Medicine Agencies (April 2015) as well as other stakeholder meetings. Amongst others, she is chair of the COST Action Networking towards clinical application of antisense-mediated exon skipping for rare diseases, chair of the executive board of the TREAT-NMD alliance, Nucleic Acid Therapeutics and a member of the TREAT-NMD project ethics counsel.

Learning Objectives

  • Patients can and should be involved in therapy development
  • It is important to not only work on developing therapy, but also on tools to assess if the therapy is effective
  • An ongoing dialogue between academics, regulators and patients is key to successful therapy development

Video Presentation

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Further Reading

DMD Genetic Therapy Group