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      When parents take the initiative for rare diseases

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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.

            Content

            Author and article information

            Conference
            RExPO24 Conference
            REPO4EU
            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
            Author information
            https://orcid.org/0009-0000-7282-1236
            https://orcid.org/0000-0001-7467-9114
            https://orcid.org/0000-0002-3874-8642
            https://orcid.org/0009-0000-5817-604X
            Article
            10.58647/REXPO.24000064.v1
            8fd127cb-3206-478a-a627-f2fb325d2fa5

            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 .

            RExPO24
            3
            Munich, Germany
            3-5 July 2024
            History
            : 10 May 2024
            Categories

            Data sharing not applicable to this article as no datasets were generated or analysed during the current study.
            Medicine
            Patient engagement,RASopathies,SYNGAP1-related developmental and epileptic encephalopathy,CFC-syndrome,Costello syndrome,Noonan syndrome,EEG,autism,epilepsy

            References

            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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