Our Heroine: Dr. Gudrun Gröppel

Dr Gudrun Gröppel is a neurophysicist and researcher at the J. Kepler University Hospital in Linz, Austria. Last year, we proudly began working with Dr Gudrun Gröppel and warmly welcomed her to our team as a medical expert.

As part of our collaboration, we are delighted to be building a strong network linking patients and specialists in MECP2 gene duplication syndrome through a robust registration and survey platform tailored to the needs of carers.

In a recent interview, Dr Gröppel graciously shared his background and aspirations.

Could you introduce yourself and tell us a little about your medical career?

My name is Gudrun Gröppel and I'm a specialist in neurology with an additional qualification in paediatric neurology. I therefore see patients of all ages, which is particularly important when dealing with genetic epilepsy. These disorders often begin in childhood and accompany patients and their families throughout their lives. I'm also in the process of completing a master's degree in clinical genetics. The reason for this is that genetic therapies represent the future in the treatment of rare diseases, so we need to understand the mechanisms. I have been Head of Neuropaediatrics in the Department of Paediatrics and Adolescent Medicine at Kepler University Hospital in Linz for several years, and I also work part-time in the Department of Neurology at Kepler University Hospital.

What do you do in your spare time when you're not working in the medical field?

Working with patients, doing research, teaching, as well as working on the board of the University Clinic for Paediatrics and Adolescent Medicine in Linz and in the Austrian Epilepsy Society and the European Neurological Association take up a lot of my time. I spend the little free time I have with my husband in the mountains.

How did you come to work with genetic diseases, in particular MECP2 duplication syndrome?

I met my first MDS patient more than 10 years ago at the Epilepsy Centre of the University Clinic for Paediatrics and Adolescent Medicine in Vienna. The boy had suffered numerous falls that did not respond to any medication. At the time, we were able to correct the falls with epilepsy surgery. Unfortunately, I also lost contact with the family when I changed jobs. In recent years, it has become apparent that more and more epilepsy and/or developmental delays have a genetic cause. This opens up many fascinating new therapeutic possibilities. The possibility of curing epilepsy and not just treating seizures no longer seems completely utopian.

What inspired you to become a medical advisor for the "DupMECP2 - Lasst uns MDS heilen" association?

It has always bothered me that clinical trials are always designed without the people who are ultimately supposed to take the drug. That's not appropriate treatment. Cooperation with self-help groups and associations is important for both parties. So that doctors can better understand patients' needs, and so that patients can realistically assess medical options and keep up to date.

What are your hopes and objectives for the future of MECP2 gene duplication syndrome research and treatment?

As the organisation's name says: "Together, we beat MDS" (Lasst uns MDS heilen). For me personally, however, one of my main aims is to find a way of alleviating symptoms in patients who already have the disease; drug reallocation would be one possibility in the case of MDS.