When parents take the initiative for rare diseases

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When parents take the initiative for rare diseases

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Author(s): Marcos Mengual Hinojosa ¹ ^, , Kirsten Eschermann ¹ ^, ² ^, ³ , Lorenz Kiwull ¹ ^, ² ^, ³ ^, ⁴ , Verena Schmeder ¹ ^, ² ^, ³

Publication date (Electronic preprint): 10 May 2024

Journal: RExPO24 Conference

Publisher: REPO4EU

Conference name: RExPO24

Conference date: 3-5 July 2024

Keywords: Patient engagement, RASopathies, SYNGAP1-related developmental and epileptic encephalopathy, CFC-syndrome, Costello syndrome, Noonan syndrome, EEG, autism, epilepsy

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Abstract

SYNGAP Elternhilfe e. V. is a German patient organization for parents of children with SYNGAP1-related developmental and epileptic encephalopathy (SYNGAP1). SYNGAP1 is a rare, genetic disorder on the sixth chromosome (6p21.32). Affected patients, mostly children, suffer from global developmental delay, intellectual disability, epilepsy, and autism [1]. SYNGAP Elternhilfe e. V. supports around 120 families in the German-speaking countries and its main goals are to raise awareness for the condition, support patients, and promote research. Additionally, the association manages a Facebook group to support families with children with developmental disorders who have not yet received a diagnosis. In 2021, SYNGAP Elternhilfe e. V. initiated the EUropean network for neurodevelopmental RASopathies (EURAS), a European funded research consortium for SYNGAP1 and three other RASopathies, the Cardio-Facio-Cutaneous syndrome (CFC), Costello syndrome (CS) and the Noonan syndrome (NS). After two years of preparation and a two-stage application process, the consortium of 16 partners was successful and the project, funded by the EU with more than €8 million, commenced in June 2023. In this project, patient associations, and support groups from 13 European countries are collaborating in a patient board, actively shape the patient registry, cooperate with clinicians and researchers, and take on parts of the communication and dissemination activities. The EU representative monitoring this project highlighted the exceptional significance of this patient-initiated project during the first joint meeting. Beside the patient registries for the RASopathies and SYNGAP1, new treatments and therapies are expected as outcome of the project. The SYNGAP Elternhilfe e. V. is currently initiating a small EEG project for autistic children with intellectual disabilities. The goal is to reduce the stress level for SYNGAP1 patients during examinations and to improve the quality of EEG readings. In the area of raising awareness, SYNGAP Elternhilfe e. V. has successfully launched the RARE DISEASES RUN, which has become Europe’s largest sports event for rare diseases. To conclude, SYNGAP Elternhilfe e. V. has demonstrated that a small association can initiate and successfully implement significant projects. This example aims to inspire other associations in the rare disease field to collaborate, strategize, and implement their own projects.

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Title: RExPO24 Conference

Publisher: REPO4EU

Publication date (Electronic preprint): 10 May 2024

Affiliations

[1 ] Syngap Elternhilfe e.V., Krefeld, Germany;

[2 ] Research Institute for Rehabilitation, Transition and Palliation, Paracelsus Medical University, Salzburg, Austria ( https://ror.org/03z3mg085)

[3 ] Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria ( https://ror.org/03z3mg085)

[4 ] Clinic for Child Neurology and Social Pediatrics, Kinderzentrum Maulbronn gGmbH, Maulbronn, Germany;

Author notes

[* ]Email: marcos@ 123456syngap.de .

Author information

Marcos Mengual Hinojosa https://orcid.org/0009-0000-7282-1236

Kirsten Eschermann https://orcid.org/0000-0001-7467-9114

Lorenz Kiwull https://orcid.org/0000-0002-3874-8642

Verena Schmeder https://orcid.org/0009-0000-5817-604X

Article

DOI: 10.58647/REXPO.24000064.v1

SO-VID: 8fd127cb-3206-478a-a627-f2fb325d2fa5

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This work has been published open access under Creative Commons Attribution License CC BY 4.0 , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Conditions, terms of use and publishing policy can be found at www.scienceopen.com .

Conference name: RExPO24

Conference number: 3

Conference location: Munich, Germany

Conference date: 3-5 July 2024

History

Date received : 10 May 2024

References

Mignot Cyril, von Stülpnagel Celina, Nava Caroline, Ville Dorothée, Sanlaville Damien, Lesca Gaetan, Rastetter Agnès, Gachet Benoit, Marie Yannick, Korenke G Christoph, Borggraefe Ingo, Hoffmann-Zacharska Dorota, Szczepanik Elżbieta, Rudzka-Dybała Mariola, Yiş Uluç, Çağlayan Hande, Isapof Arnaud, Marey Isabelle, Panagiotakaki Eleni, Korff Christian, Rossier Eva, Riess Angelika, Beck-Woedl Stefanie, Rauch Anita, Zweier Christiane, Hoyer Juliane, Reis André, Mironov Mikhail, Bobylova Maria, Mukhin Konstantin, Hernandez-Hernandez Laura, Maher Bridget, Sisodiya Sanjay, Kuhn Marius, Glaeser Dieter, Weckhuysen Sarah, Myers Candace T, Mefford Heather C, Hörtnagel Konstanze, Biskup Saskia, Lemke Johannes R, Héron Delphine, Kluger Gerhard, Depienne Christel. Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy. Journal of Medical Genetics. Vol. 53(8):511–522. 2016. BMJ. [Cross Ref]

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[1] Mignot Cyril, von Stülpnagel Celina, Nava Caroline, Ville Dorothée, Sanlaville Damien, Lesca Gaetan, Rastetter Agnès, Gachet Benoit, Marie Yannick, Korenke G Christoph, Borggraefe Ingo, Hoffmann-Zacharska Dorota, Szczepanik Elżbieta, Rudzka-Dybała Mariola, Yiş Uluç, Çağlayan Hande, Isapof Arnaud, Marey Isabelle, Panagiotakaki Eleni, Korff Christian, Rossier Eva, Riess Angelika, Beck-Woedl Stefanie, Rauch Anita, Zweier Christiane, Hoyer Juliane, Reis André, Mironov Mikhail, Bobylova Maria, Mukhin Konstantin, Hernandez-Hernandez Laura, Maher Bridget, Sisodiya Sanjay, Kuhn Marius, Glaeser Dieter, Weckhuysen Sarah, Myers Candace T, Mefford Heather C, Hörtnagel Konstanze, Biskup Saskia, Lemke Johannes R, Héron Delphine, Kluger Gerhard, Depienne Christel. Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy. Journal of Medical Genetics. Vol. 53(8):511–522. 2016. BMJ. [Cross Ref]

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When parents take the initiative for rare diseases

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Abstract submission is now open for RExPO25, the 4^th International Conference on Systems Medicine, AI & Drug Repurposing. Submit your proposal for a talk or poster and join us in Barcelona, Spain, September 24-26, 2025.