Today our spotlight is on Dr. Wibke Janzarik, a pediatric neurologist in the Department of Neuropediatrics and Muscle Disorders.  She told RE4CH a bit about her work by email:

What is the most interesting or exciting research question that you hope to answer in the next 5 years?

I am interested in a neurogenetic disease called Pontocerebellar Hypoplasia Type 2. Although this disease is extremely rare and shows disease-specific characteristics, the underlying genetic cause affects a highly conserved biological process. To decipher the complex biological basis of this disease in the zebrafish will help us to better understand RNA processing and cerebral development in humans.

What is the most difficult challenge you face in doing this research (technical, regulatory, logistical, conceptual)?

It is easy to have exciting ideas, but not as easy to carry them through. Every single step takes a lot of time, which is rare alongside the time-consuming clinical work. Motivated manpower and the necessary financial support would definitely help me to advance faster.

Can you tell us something about your scientific career so far? Why did you become a scientist? What drew you to this particular field? Has there been a turning point or a particularly critical event or experience in your work as a scientist?

As a child I thought of all the mysteries of life as a big jigsaw puzzle, and I wanted to turn a small part of it to make it fit into the big picture. During my medical studies I became interested in developmental processes and neurobiology, and joined a group working on neurogenesis in zebrafish for my thesis. For my clinical career, neuropediatrics was the perfect fit. Not long ago, through the clinical work with several affected families, my interest was drawn to the previously mentioned neurogenetic disease called Pontocerebellar Hypoplasie Type 2 (PCH2). I am very much motivated by the impressive parent support group (PCH-Familie e.V., linked site in German).

Can you tell us something surprising about your work? Either something that was unexpected to you when you discovered it, or something that you think others would find surprising (even if you don’t)?

Which surprised me most when I started to work on PCH2 was the fruitful cooperation with affected families. More than 20 families with severly handicapped children planned a joint cruise through the Baltic Sea (linked site in German) together with disease experts (unfortunately this “cruise4life” had to be postponed to 2021 due to Covid-19). Our research is now supported by a new initiative called PCH2cure (linked site in German), which was also established by the highly-commited parent support group.

How does your work directly impact children and young people and their health?

PCH2 is a very rare disease with a high burden of symptoms and a reduced life expectancy. We are on the way to establishing a zebrafish model of PCH2 to screen for new therapeutic options. At the same time we are collecting detailed clinical data of affected patients to describe the natural course of the disease. In the future, this dual approach will give us the opportunity to transfer newly gained knowledge into clinical practice to help our patients.

Many thanks, Dr. Janzarik, and good luck with this research!

If you are interested in our work on neuropediatric and neuromuscular disorders, please visit our pages about research being done by Astrid Pechmann, Julia Jacobs & Kerstin A. Klotz, and Thorsten Langer.