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Research Advisory Board

The Research Advisory Board of ZNM – Zusammen Stark! e. V. consists of six members of the association and four external members. These are currently (December 2022) Dr. Bärbel Nötzel, Carl-Phillip Nagy, Dr. Jennifer Bilbao, Marian Beelen and Thomas Hartmann as association members and Dr. Johann Böhm, Dr. Andreas Roos, Dr. Katharina Vill and Dr. Nicol Voermans as external members.

We introduce ourselves:

Dr. Bärbel Nötzel

My name is Bärbel Nötzel. I come from Munich and have two children, Elena and Julian. My 15-year-old son Julian has MTM1.

I am also a doctor and currently work as an assistant doctor for anesthesia.

Carl-Philipp Nagy

I am the proud father of Louie and Pierre, who has MTM1 . I originally come from ‘The Länd’, Heilbronn, and have lived in Dietach near Steyr in Austria since 2019. By searching for information about our son’s muscle disease, we luckily found this association. The association has already helped us so much and I want to give something back as a research advisor. We are already looking forward to attending the Family Conference 2023 as a whole family!

Marian Beelen

My name is Marian, I live in the Netherlands and I am Jeno’s mother. Jeno was diagnosed with MTM1 at the age of two. As little was known about MTM or CNM in 2000, I was always looking for information.

As a member of ZNM-Zusammen Stark! e.V., I am delighted to be able to contribute to the research advisory board in the search for treatments, or maybe even a cure, that can improve the quality of life of our children!

Thomas Hartmann

My name is Thomas Hartmann and I was diagnosed with DNM2 at the age of 33.

I am on the research advisory board so that I can actively support the selection process. In the hope that we can very soon help those affected to find relief, possibly even a cure.

Dr. Jennifer Bilbao

I’m Jen, a mom, a PhD in science, a nature lover and a hopeful woman. In my free time, I am involved in the ZNM – Zusammen Stark! e.V. association, which I founded together with my husband Holger and other families because our son Emil was born with myotubular myopathy. Emil sadly passed away in 2016 when he was just two years old.

I am involved in the research advisory board because I want to help find a therapy for people affected by CNM so that no one has to die so young from this disease.

Dr. Johann Böhm

Dr. Johann Böhm completed his studies at the Georg August University in Göttingen in 2003 and then did his doctorate at the Institute of Human Genetics at the Albert Ludwigs University in Freiburg. Since then, he has been a research associate at the Institute for Translational Medicine and Neurogenetics, IGBMC in Strasbourg, headed by Jocelyn Laporte. You can find more information about him here.

Dr. Nicol Voermans

Nicol Voermans works at the Neuromuscular Center of Radboud University in Nijmegen. Her main interest is research into hereditary myopathies, in particular congenital myopathies and facioscapulohumeral muscular dystrophy (FSHD).

She specializes in the broad spectrum of RYR1-associated myopathies, especially those that manifest in adulthood. You can find more information about her here.

Dr. Katharina Vill

Dr. Katharina Vill is a pediatrician at the Dr. von Hauner Children’s Hospital in Munich. Her focus is on neuropaediatrics and genetic counseling.

Dr. Andreas Roos

Dr. Andreas Roos completed his degree in biology at the RWTH Aachen University in 2005 and then began work as a doctoral student at the Institute of Human Genetics in Aachen. He completed his doctorate there in 2009. This was followed by scientific activities at the Institute of Medical Biochemistry (Saarland University), the Institute of Neuropathology (RWTH Aachen), the Leibniz Institute for Analytical Sciences (Dortmund) and the John Walton Muscular Dystrophy Research Centre (University of Newcastle). Since then, he has been a research associate at the Heimer Institute for Muscle Research (Bergmannsheil Hospital, Ruhr University Bochum) and in the Department of Neuropaediatrics at Essen University Hospital (University of Duisburg-Essen).

As a biologist, Andreas works in the field of translational biomedical research. His main focus is on researching the molecular causes of neuromuscular diseases. In particular, the identification of dysregulated processes in affected cells, such as muscle cells, should provide starting points for testing new therapeutic concepts. Various proteomic methods are often used for this purpose.
Further information about Andreas can also be found on his homepage.

Ulrike Hauer

My name is Ulrike Hauer and I live in Lower Bavaria. In 2018, I was found to have a mutation in the RYR1 gene as part of a human genetic test.
Through research on the Internet, I found the ZNM zusammen stark e.V. association and many nice people who gave me the feeling that I was not alone with this rare, still relatively unknown form of myopathy.
I am delighted to be able to support the Research Advisory Board. I hope that this will lead to a better understanding of individual centronuclear muscle diseases and thus also to find a therapy for them.

  • The Research Advisory Board advises the Executive Board

  • The Managing Board may replace members of the Research Advisory Board in justified cases

  • The Managing Board is responsible for the decisions of the Research Advisory Board

  • The Research Advisory Board consists of six members of the ZNM Association (“laypersons”) and four scientists(“experts“)

  • The Research Advisory Board has legal capacity if at least 2 laypersons and 2 experts are present

  • Compliance with the funding guidelines by the Management Board

  • Preparation of the tender

  • Reading the applications (for laypersons: the summary for laypersons)

  • Review of the admissibility of applications

  • Distributing the applications to the experts

  • Reading the reviews and summarizing them as a recommendation for the Board of Directors

  • Provide feedback to the applicants

  • Advising the Management Board on concluding contracts with the funded applicants

  • Reading any interim reports

  • Advising the Managing Board on possible cost-neutral extensions or other deviations from the funding agreement.