
Video
Annemieke Aartsma-Rus: Playing hide and seek with the Duchenne gene
Trying to slow down a genetic disease
One in five thousand boys are born with Duchenne. It is a serious genetic defect which causes continuous and irreversible damage to muscle tissue. Duchenne is mostly diagnosed when children are around four or five years old. The first signs are that motor development is delayed and the child trips frequently. The muscle loss is progressive: patients end up in a wheelchair and will eventually need assisted ventilation. Their life expectancy is around thirty years. At the Leiden University Medical Centre Annemieke Aartsma-Rus works on new therapies for Duchenne patients.
Onderzoeker
Annemieke Aartsma-Rus
Annemieke Aartsma-Rus (1977) is associate professor Humane Genetica, Leids Universitair Medisch Centrum. Annemieke speelde een belangrijke rol bij de aanzet voor een nieuwe therapie voor de spierziekte Duchenne, een onderwerp dat haar al sinds haar promotie bezighoudt.
Instituut
Credits
With the support of: The Young Academy
Research funded by: Duchenne Parent Project (the Netherlands), Prinses Beatrix Spierfonds, Spieren voor Spieren, ZonMW, European Union FP6 (TREAT-NMD) and FP7 (Bio-NMD and NeurOmics)
Thanks to: Bart Gremmer, Marty Foget, Mirjam Franken (Duchenne Parent Project), Cindy Loomans and Svetlana Pasteuning Leiden University Medical Centre
With images/animation from: the Dutch documentary ‘Leven met Duchenne’ by VideoWerkt and ‘Duchenne with a future: the power to live’ (2011) by Jos Hendriksen, Debby Schrans & Jelle de Jonge, sponsored by Parent Project Muscular Dystrophy
Made by: Jasmijn Snoijink 2015
In cooperation with
Camera: Michel Bosch & Wouter Boes
Editing: Wouter Boes
Music: Daan van West
Graphic design: SproetS