Annemieke Aartsma-Rus


Leiden University Medical Center

Newcastle University

Position in Extended Committee - Preclinical expert
Annemieke Aartsma-Rus

Dr. Annemieke Aartsma-Rus played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy during her PhD research (2000-2004), which was supervised by Dr. Judith van Deutekom, Dr. Johan den Dunnen and Prof. Dr. Gert-Jan van Ommen at the Leiden University Medical Center, Department of Human Genetics (the Netherlands). She successfully defended her thesis titled “Development of an antisense-mediated exon skipping therapy for Duchenne Muscular Dystrophy – Making sense out of nonsense” on February 10th 2005. Since September 2004 she continued this research as a post doc under supervision of Dr. Judith van Deutekom.

As of December 2007 she became leader of the “DMD exon skip group” first, as assistant professor and currently as associate professor at the Department of Human genetics (lead by Gert-Jan van Ommen). Thus far, she has published over 30 papers and 3 book chapters, the majority as first or last author and including 6 review papers, as well as 7 patents. She has given many invited lectures at meetings, symposiums and workshops and patient/parent organizations meetings and also has given webinars combined with a Q&A session (organized by the Duchenne Foundation (Australia)). She has created and maintains a website on exon skipping, containing a dedicated section for patients and parents as well as patient-friendly pages on therapeutic approaches for the TREAT-NMD website.

She has successfully applied for numerous grant applications, including a prestigious VIDI award (€800,000) from the Dutch government in 2009. She is the Dutch coordinator of the EU 6FP project TREAT-NMD, a member of the TREAT-NMD project ethics council, and was a member of the scientific organizing committee for the TREAT-NMD/NIH international conference in Brussels (Nov 2009). She also participated in the EMEA/FDA steering committee for a Workshop on Trial Protocol Design for Regulatory Approval of AON Therapies in DMD and contributed to the briefing document of this workshop and was a working group member of the NIH/FDA conference on antisense oligonucleotide therapies in neuromuscular disease.

Disclosure statement:

ad hoc consultant for the following companies: BioClinica, BioMarin, Deerfield Consulting, GLG consulting, Global Guidepoint, GSK, PTC Therapeutics, Summit, Wave Pharmaceutics. Remuneration for these activities went to LUMC
LUMC has received speaker honoraria from BioMarin and PTC Therapeutics

Department of Human Genetics,
Leiden University Medical Center
Postzone S4-P
Albinusdreef 2
2333 ZC

Website DMD Genetic Therapy Group