Leiden University Medical Centre:
Translational Genetics

By: Prof.dr. Annemieke M. Aartsma-Rus

What kind of research does your research group conduct?

We are developing antisense oligonucleotides (small synthetic pieces of RNA) as a therapy for Duchenne muscular dystrophy and other rare diseases. The therapeutic approach is called ‘exon skipping’ and has been approved as a treatment for Duchenne in the USA by the FDA.

How is this related to rare diseases/orphan drugs?

The exon skipping approach is in development for genetic diseases. These are all rare. Our approach has potential for a common rare disease like Duchenne. However, it sometimes also applies to only a single patient. For the latter group we try to develop therapies in the Dutch Center for RNA Therapeutics, a collaboration between Leiden, Rotterdam and Nijmegen academic medical centres.

What has been your latest “discovery” related to rare diseases/orphan drugs?

That it is possible to use the exon skipping approach not only for Duchenne, but also for rare brain diseases (this is a discovery of the exon skipping field, not me personally).

What do you find the most fascinating about rare diseases/orphan drugs?

Because rare diseases are rare, research will only work if we all collaborate and work together. As such, I have come to get to know researchers around the world working on the same or similar diseases. Furthermore, rare disease research has a strong involvement of patients and patient representatives, which is very motivating and inspiring.

How big is your research group?

I have a group of about 12 people working on Duchenne and together with a colleague a group of 9 people for the Dutch Center of RNA Therapeutics (Leiden group).

Where is your research group located at the Campus?

At the LUMC

Can students do an internship at your research group? And if yes, who should they contact?

Yes they can. They can best email Madeleine Nivard, who coordinates the internships for the whole department. Note that within my group we usually have space for 2-3 students, while we get requests from many more. SO it is best to plan ahead.

Website: M.J.M.Nivard@lumc.nl

Website: https://rg.lumc.nl/en/

Website: https://www.lumc.nl/en/afdelingen/human-genetics/duchenne-muscular-dystrophy-dmd/