8th International Symposium on NBIA in Switzerland

8th International Symposium on NBIA in Switzerland

NBIA scientists will meet to share their research from October 13-15 in Lausanne, Switzerland, at the 8th International NBIA Symposium. More than 20 scientists and physicians from all over the world will present the results of their NBIA projects and learn about the latest developments in current NBIA research. The high-calibre program includes presentations on the most common NBIA variants PKAN, BPAN, MPAN, PLAN and FAHN and beyond, followed by discussions on the necessary next steps in the various branches of NBIA research.

 

In a confidential atmosphere, the symposium also offers the opportunity for researchers to get to know each other personally and to network, also with a view to future cooperation on research projects. Clinically active physicians, most of whom also have research experience in NBIA, can also share their experiences with treatment options for NBIA patients and thus take new findings back into their everyday clinical practice.

Hoffnungsbaum e.V. is one of the sponsors of this important NBIA event, the first face-to-face meeting of NBIA researchers since 2017, with €5,000. In 2020, the symposium was only held online due to the pandemic. Our US partner organization, the NBIA Disorders Accociation, is contributing $5,000 in the form of travel grants for young scientists.

The symposium is being organized by the Swiss NBIA patient organization NBIA Suisse under the leadership of its chair Fatemeh Mollet. Under the chairmanship of Prof. Dr. Thomas Klopstock, Head of the NBIA Centre at the Friedrich Baur Institute in Munich, a five-member scientific committee has taken on the task of designing the program. For Hoffnungsbaum e.V. our Chairman Markus Nielbock worked on the committee as a patient representative.

Website of the symposium: https://nbiasuisse.org/8th-international-symposium-on-nbia/

NBIA Family Conference 2022 postponed!

NBIA Family Conference 2022 postponed!

Hoffnungsbaum e.V. wanted to organize the 9th NBIA Family Conference in Germany in September 2022 at the youth hostel in Heilbronn. We were very much looking forward to finally organizing a face-to-face meeting of NBIA families again after two years of the pandemic. Unfortunately, several active association and board members are now so busy with their families that we have been forced to postpone the family conference indefinitely.

As a small substitute, we would at least like to attract the speakers planned for the family conference for online lectures. You can find the online lectures already scheduled here:

Online lectures

We also want to set up online meetings on the individual NBIA variants so that experiences can be exchanged even without a family conference.

We are open to suggestions for topics or speakers and if you are interested in actively supporting the Board or the association, we would be delighted to hear from you:

info@hoffnungsbaum.de

The Hoffnungsbaum Board of Directors

Generational change in the Management Board of Hoffnungsbaum

Generational change in the Management Board of Hoffnungsbaum

Am 21.11.2021 fand die jährliche Mitgliederversammlung von Hoffnungsbaum e.V. (HoBa) statt – mit wegweisenden Entscheidungen für die Zukunft unserer NBIA-Patientenorganisation durch den Abschluss des Generationenwechsels in der Vereinsführung und die Umorganisation der zukünftigen Vorstandsarbeit. Im geschäftsführenden Vorstand hat Markus Nielbock nun den Vorstandsvorsitz übernommen, Sebastian Matthiesen wurde Zweiter Vorsitzender und Sigune Lüchtefeld ist neue Schatzmeisterin. Anja Barthe, Noah Rusch und Tiemo Durm wurden wiedergewählt und Ufuk Calisici kommt als neue Unterstützung hinzu. Weitere Informationen zum aktuellen Vorstand finden Sie unter: https://www.hoffnungsbaum.de/verein/vorstand/

Mein Mann Stephan und ich bleiben nach unserem Rückzug aus dem aktiven Vorstand nach 19 Jahren verantwortlicher Tätigkeit für Hoffnungsbaum e.V. der neuen Vereinsführung noch eine Zeit lang in beratender und unterstützender Funktion eng verbunden.

Wir möchten uns hiermit bei allen NBIA-Familien, Vereinsmitgliedern, Ärzten und Forschern, bei den Partnern aus der NBIA-Selbsthilfe, unseren Dachverbänden sowie den unterstützenden Krankenkassen und den vielen Spendern für das über viele Jahre hinweg entgegengebrachte Vertrauen und für die gute Zusammenarbeit sehr herzlich bedanken. Wir verabschieden uns von der aktiven Arbeit für Hoffnungsbaum e.V. etwas wehmütig, aber auch froh über die dringend nötige Entlastung, mit einem Zitat zur Hoffnung, die stets der Motor unserer Wirkens und unseres Lebens war und bleiben wird:

 

„Hoffnung ist eine große Macht, vielleicht die größte von allen… Im Hoffen liegen Kraft zum Weitermachen, zum Nichtaufgeben, und Hoffnung wird nicht verstanden als Herumsitzen und Abwarten, bis das Richtige sich irgendwie einstellt, sondern sie ‚verlangt Menschen, die sich ins Werdende tätig hineinwerfen‘ (Ernst Bloch)“ Gesamtzitat aus: Der Spiegel 14/2021 – Essay von Ullrich Fichtner

Der Führungswechsel in unserer NBIA-Patientenorganisation ist das Ergebnis einer systematischen Vorbereitung. Am Anfang stand ein gemeinsames Abendessen mit engagierten Neu-Mitgliedern anlässlich der Mitgliederversammlung 2017 in Düsseldorf. Gast-Teilnahmen an unseren virtuellen Vorstandssitzungen halfen dann den „Neuen“ dabei, allmählich die umfangreiche Vorstandsarbeit von Hoffnungsbaum schon vor der Übernahme von Verantwortung kennenzulernen und auch eigene Ideen dafür zu entwickeln. Seit der Familienkonferenz 2018 konnten so schrittweise Vorstandspositionen, die frei wurden, neu besetzt werden. Geholfen haben bei dieser sanften Übergabe der Verantwortung auch zwei ganztägige Strategiesitzungen 2019 und 2021, die der Vorstand mit Interessent*innen an der Vorstandsarbeit dank der Unterstützung durch die DAK Gesundheit durchführen konnte.

Eine weitere wesentliche Veränderung betrifft die Neuorganisation der täglichen Vereinsarbeit in Form von Arbeitsgruppen (AGs), die jeweils einen Aufgabenbereich unserer Selbsthilfearbeit repräsentieren und selbständig bearbeiten. Jede der derzeit noch 6 AGs wird von einem Vorstandsmitglied verantwortlich geleitet: AG Betroffenenberatung , AG Familienkonferenzen, AG Forschungsförderung, AG Informationsverbreitung, AG Fundraising, AG Verwaltung

Zur Mitarbeit in den AGs ihres Interesses sind auch herzlich alle Vereinsmitglieder und Familien eingeladen, die sich für eine Vereinsmitgliedschaft interessieren. Hoffnungsbaum e.V. ist auf einem guten Weg in die Zukunft mit engagierter neuer Vereinsführung, die jede Unterstützung brauchen kann und verdient.

Wir haben alle dasselbe Ziel und arbeiten daran, ihm näherzukommen: Bessere medizinische Behandlungen für unsere Liebsten zu finden und verfügbar zu machen, um ihr Leben mit NBIA zu verbessern!

Cycling for Laurin as part of the Million Dollar Bike Ride

Cycling for Laurin as part of the Million Dollar Bike Ride

As part of the Million Dollar Bike Ride (MDBR) we launched a fundraising campaign in our garden at home in aid of BPAN. Friends, relatives and acquaintances were invited to come by on their bikes and make a donation. In return, we served freshly baked pizza from the wood-fired oven and drinks. We had around 60 guests throughout the day and many of them actually came by bike. We hadn't seen some of them for a long time, so we had a wonderful day in great weather under our chestnut tree. Thanks to brilliant teamwork and the fact that not all the guests were there at once, the day was very relaxed for everyone involved - many thanks to all the helpers, big and small! This gave me enough time to talk to the guests about BPAN and tell them about our association's work at Hoffnungsbaum . Laurin also enjoyed the little hustle and bustle and in the evening not only were our bellies full, but also our donation box - a total of just over €3000, which went to the Hoffnungsbaum e.V. to the NBIA Disorders Association (NBIA DA) will be transferred to the USA, where they will then flow into the worldwide Million Dollar Bike Ride donation pot, which will then be doubled by the University of Pennsylvania, as the $ 20,000 mark has already been exceeded! Many, many thanks to everyone who took part and we look forward to next year!

By the way: donations can still be made by bank transfer, as we will not be transferring the total amount to the USA until the end of June:

Donation account: DE67 3305 0000 0000 305979
Purpose: Cycling for Laurin - BPAN

 

Photos: Noah Rusch

First online lecture: 28 participants at lecture on BPAN research in Tübingen

First online lecture: 28 participants at lecture on BPAN research in Tübingen

On February 10, 2021 Hoffnungsbaum e.V. launched a new online service for our families, especially in German-speaking countries. It will be a loose series of video meetings on various topics relevant to NBIA sufferers. We are also happy to receive suggestions for topics.

The opening event focused on beta propeller protein-associated neurodegeneration (BPAN), now one of the most common NBIA variants. In addition to the iron accumulation in the brain that is characteristic of NBIA, BPAN leads to a reduction in cognitive and motor skills and is associated with epilepsy in almost all patients, at least in certain phases.

Prof. Dr. Tassula Proikas-Cezanne, Professor at the Eberhard Karls University of Tübingen and head of the "Autophagy" laboratory at the Interfaculty Institute for Cell Biology, spoke about "The importance of the WDR45/WIPI4 gene for autophagy and BPAN"followed by an exchange of ideas with a Q&A session. The event lasted around 1¼ hours. In addition to the more than 20 participants from the circle of NBIA families, 5 doctors treating children with BPAN were also present to find out about the background to their young patients' illnesses.

During the lecture, Ms. Proikas-Cezanne first explained the function of autophagy. She is a proven expert in this important cell process, in which degradation products that are no longer needed are collected in the body's cells and recycled. The gene WDR45 encodes the protein WIPI4, which is important for the correct functioning of autophagy. The gene and protein were discovered by Ms. Proikas-Cezanne. American and German researchers from the TIRCON consortium then established that mutations in the WDR45 gene trigger a specific NBIA disease and gave it the name beta propeller protein-associated neurodegeneration (BPAN).

The actual gene discoverer is now also researching BPAN herself and summarized the current state of research into the function of the WDR45 gene for the participants. She vividly described the most important processes that are impaired in the affected cells. Finally, she explained her current research project, which is based on the analysis of skin samples taken from patients and their close family members.

Ms. Proikas-Cezanne and her research group are concentrating on deciphering the causes of BPAN in the biochemistry of brain cells in order to make a contribution to future therapies.

Tübingen research group led by Professor Tassula Proikas-Cezanne

Contact us
Prof. Dr. rer. nat. Tassula Proikas-Cezanne
University of Tübingen
Department of Molecular Biology
Interfaculty Institute for Cell Biology (IFIZ)
Phone +49 7071 29-78895
tassula.proikas-cezanne@uni-tuebingen.de

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