Autophagy Congress in Tübingen with panel discussion
On 24 September 2019, as the father of a daughter with BPAN and in my capacity as Vice-Chairman of Hoffnungsbaum e.V., to participate in a public Panel discussion on the topic of "Autophagy and its significance for health and neurodegeneration". It took place as part of this year's international autumn meeting of the German Society of Biochemistry and Microbiology and the German Society of Cell Biology in Tübingen. Noah Rusch, also a member of the board of directors of Hoffnungsbaum e.V., supervised an information booth.
The organizer and autophagy researcher Prof. Dr. Tassula Proikas-Cezanne had invited me to the discussion in order to Hoffnungsbaum neurodegenerative diseases that begin in childhood. Autophagy is disrupted in some NBIA variants, including BPAN. Autophagy is a cellular process that is responsible for the breakdown and utilization of substances that are produced as waste products during metabolism and cannot be used by the cells. Autophagy ensures that these substances can be decomposed and made available to the cell again as building blocks. It plays an important role in age-related diseases such as Alzheimer's and Parkinson's.
Three renowned scientists took part in the discussion: Prof. Proikas-Cezanne, Prof. Dr. Christian Behl (Director of the Institute of Pathobiochemistry at the University of Mainz) and Prof. Dr. Frank Madeo (Head of the Research Group "Ageing and Cell Death" at the University of Graz). They were joined by the Lord Mayor of the City of Tübingen, Boris Palmer. The discussion was chaired by the well-known science journalist Ina Knobloch.
The one-hour discussion shed light on the topic of "autophagy" as a health-relevant mechanism in old age as well as its disruption by
congenital gene mutations, here with the example of BPAN. I had the opportunity to describe how BPAN affects the lives of children and the challenges this disease poses for the families affected. This information is particularly interesting and motivating for researchers, as little is known about genetic diseases related to autophagy.
Prof. Proikas-Cezanne in particular is very interested in deciphering BPAN. She discovered the gene WDR45 more than 15 years ago. The causative role of this gene in an NBIA disease, which was then given the name BPAN, was first described in 2012 by scientists from the TIRCON consortium. Prof. Proikas-Cezanne has also extensively studied the protein WIPI4, which is impaired in its function by the BPAN mutations, and has uncovered its role in autophagy. The researcher was all the more electrified when she heard that a disease like BPAN could be caused by the gene she had discovered.
This is the beginning of what could be a long-term partnership in the fight against BPAN. Prof. Proikas-Cezanne has already initiated a BPAN research project with public funds. As soon as we know more, we will inform you about it.
