The ERA-Net for research programmes on rare diseases (E-Rare) was established under the European Commission to coordinate the research efforts of European countries in the field of rare diseases. The ERA-Net is coordinated by GIS-Institute for Rare Diseases (France) with the participation of The National Fund for Scientific Research (FNRS, Belgium), The National Research Agency (ANR, France), The Federal Ministry of Education and Research (BMBF, Germany), The PT-DLR Project Management Agency (Germany), The National Institute of Health (ISS, Italy), The Chief Scientist Office of the Ministry of Health (CSMOH, Israel), The Institute of Health Carlos III (ISCIII) – Fund for Health Research (FIS) / Institute for Research on Rare Diseases (IIER) (Spain), The Netherlands Organisation for Health Research and Development (ZonMw, The Netherlands) and The Scientific and Technological Research Council of Turkey (TÜBITAK, Turkey).
In response to the first call for research proposals under this programme – E-Rare Call for Proposals 2009 for “European Research Projects on Rare Diseases” – Drs Adrian Danek and Benedikt Bader, leaders in the study of neuroacanthocytosis at Ludwig Maximilian University brought together a group of five European leaders in the study of neuroacanthocytosis. They titled their proposed research project European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA).
The group were jointly awarded research grants of approximately €650,000, over a three-year period, to advance clinical and basic science studies into neuroacanthocytosis. Apart from the coordinators, two further partners, Prof. Francois Tison and Dr Zuhal Yapici, came from clinical medicine. The remaining three partners dealt with basic science topics: Prof. Rainer Prohaska, Prof. Giel Bosman, and Prof. Ody Sibon. The group´s common goal was to reach a clearer understanding of the clinical features and molecular underpinnings of neuroacanthocytosis (NA) syndromes.
The researchers gathered in Munich for a meeting in April, 2010 which was also attended by associated researchers Prof. Thomas Meitinger, Prof. Thomas Klopstock and Prof. Alexander Storch. During the meeting, the partners agreed on a detailed timeline and delegated specific tasks to each partner. In Germany, Austria, the Netherlands and France, the EMINA project started officially on 1 May, with Turkey following in the summer.
EMINA 1 provided the following major results:
- Standardised video examinations of patients suspected to suffer from NA were generated for systematic evaluation to identify core clinical features in the course of disease.
- A database of blood samples and clinical features of NA patients was set up. The Database and blood samples are available for future collaborating partners.
- The long-term outcome of deep brain stimulation (DBS) in patients suffering from one NA subtype, chorea-acanthocytosis (ChAc), was evaluated. The report makes suggestions for the future cautious use of DBS focussed on the internal globus pallidus in ChAc.
- A collection of ChAc brain and muscle tissue was generated and is available for further research at the Munich brain bank.
- The neuropathology of ChAc was investigated extensively. Apart from stereological and immunohistochemical studies of brain, muscle tissue was analysed and the level of chorein in various peripheral human tissues was measured.
- Membrane properties of the abnormally shaped have been analysed and described.
- The protein network of ChAc erythrocytes was analysed and possible interacting partners of chorein, the protein mutated in ChAc, were identified.
- A drosophila model of ChAc was newly developed and further studied in the follow-up project EMINA-2 (also supported by E-Rare).
The work yielded two published papers on the effect of deep brain stimulation and deeper knowledge of red blood cells. The three-year grant ended in 2012.
5.3.2 E-RARE-2 – 2012
The response to the call under E-RARE-2, came about when the team came together again in 2012 to apply successfully for a grant that involved the younger investigators in Dresden, Groningen, Nijmegen, Tel Aviv and Vienna who took the leadership positions. (E-Rare Joint Transnational Call (JTC 2012) for European Research Projects on Rare Diseases driven by Young Investigators).
The first annual review meeting of EMINA 2 was held in Vienna on 27-28 September 2013. Prof. Danek and Prof. Klopstock gave clinical overviews of NA and neurodegeneration with brain iron accumulation. Andreas Hermann, the leader of EMINA 2, spoke about the clinical science and translational research of NA while Prof. Ody Sibon discussed the therapeutic potential of animal models for NA and NBIA.
On the second day, the group were joined by Profs. Lucia de Franceschi, Giel Bosman, and Dr Florian Wegner, who carry out research with Advocacy grants.
In January 2014, Dr Danek attended the E-Rare Scientific Meeting and Strategic Workshop in Athens and presented a session about EMINA 2.
Dr Danek described how six partners in five countries with both clinical and basic science features were working to reach a clearer understanding of the functioning of both normal and abnormal cells in chorea-acanthocytosis patients. They had a number of approaches to the mysteries of the causes of the NA diseases including using patients’ stem cells to study the effects of certain mutations on intracellular signalling pathways.