Annemieke Aartsma-Rus


Leiden University Medical Center

Newcastle University

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.

As of December 2007 she became leader of the “DMD exon skip group” first, as assistant professor and currently as full professor at the Department of Human genetics. Thus far, she has published over 160 papers and 10 book chapters, as well as 15 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 a member of the TREAT-NMD Executive Committee (Chair from 2012-15). She is a member of the TREAT-NMD Project Ethics Counsel and has organized several stakeholder meetings between patient representatives, regulators and academics for DMD and SMA. She has also been involved in setting up standardized operating procedures for pre-clinical animal studies and collecting natural history data for NMD animal models.

Disclosure statement:

Ad hoc consultant for the following companies: BioMarin, Deerfield Consulting, GLG consulting, Global Guidepoint, GSK, PTC Therapeutics, Summit, Wave Pharmaceutics, Saretpa, Alpha Anomeric and Eisai. Remuneration for these activities went to LUMC
LUMC has received speaker honoraria from BioMarin and PTC Therapeutics. LUMC has patents on exon skipping technology, as a co-inventor on some of the patents I am entitled to a share of royalties.


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

Website DMD Genetic Therapy Group