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[Support for Families\ --------------------\ \ Click Here](https://ring20researchsupport.co.uk/for-families/) [Information for Medics & Researchers\ ------------------------------------\ \ Click Here](https://ring20researchsupport.co.uk/for-medics-researchers/) [Donate £10\ ----------\ \ Donate](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=10) [Donate £30\ ----------\ \ Donate](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=30) [Donate £70\ ----------\ \ Donate](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=70) [Donate\ ------\ \ other amount\ \ Donate](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=100) Your Stories ============ [Click here for all stories](https://ring20researchsupport.co.uk/story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/08/20240730_181350-300x251.jpg)](https://ring20researchsupport.co.uk/story/rachelas-story/) ### [Rachel A’s story](https://ring20researchsupport.co.uk/story/rachelas-story/) Our journey with Ring Chromosome 20 Syndrome \[r(20)\] proved to be challenging and impossible to live with. Rachel lost her life to epilepsy just 2 [Read More](https://ring20researchsupport.co.uk/story/rachelas-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/sebastian-burckle_JustGiving-e1722268085987-300x222.jpg)](https://ring20researchsupport.co.uk/story/sebastians-story/) ### [Sebastian’s story](https://ring20researchsupport.co.uk/story/sebastians-story/) Sebastian Burckle (21) died unexpectedly in September, 2023 whilst on holiday in Mexico. Sebastian lived with Ring Chromosome 20 Syndrome, an ultra-rare genetic condition, its [Read More](https://ring20researchsupport.co.uk/story/sebastians-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/IMG-20190409-WA0010-e1722786902499-263x300.jpg)](https://ring20researchsupport.co.uk/story/ellas-story2/) ### [Ella’s story – a friend’s perspective](https://ring20researchsupport.co.uk/story/ellas-story2/) To every relative, friend and professional… I write this with the hope of bringing change for anyone who knows any child or adult with a [Read More](https://ring20researchsupport.co.uk/story/ellas-story2/) Latest News and Research ======================== [Click here for all news](https://ring20researchsupport.co.uk/news/) * [News](https://ring20researchsupport.co.uk/category/news/) [AGM 2024](https://ring20researchsupport.co.uk/2024/10/agm-2024/) ------------------------------------------------------------------ Read the documents from our latest AGM [2 mins Mins](https://ring20researchsupport.co.uk/2024/10/agm-2024/) [REad more](https://ring20researchsupport.co.uk/2024/10/agm-2024/) * [Information](https://ring20researchsupport.co.uk/category/medical-advisor/information/) [New information leaflets for Ring20](https://ring20researchsupport.co.uk/2024/10/new-information-leaflets-for-ring20/) ------------------------------------------------------------------------------------------------------------------------ NEW!! We are excited to present two new information leaflets, one for parent/carers and one specifically for healthcare professionals: [2 mins Mins](https://ring20researchsupport.co.uk/2024/10/new-information-leaflets-for-ring20/) [REad more](https://ring20researchsupport.co.uk/2024/10/new-information-leaflets-for-ring20/) * [Blog](https://ring20researchsupport.co.uk/category/blog/) [Highlights from Brighton Race Day](https://ring20researchsupport.co.uk/2024/10/highlights-from-brighton-race-day/) -------------------------------------------------------------------------------------------------------------------- [5 Mins](https://ring20researchsupport.co.uk/2024/10/highlights-from-brighton-race-day/) [REad more](https://ring20researchsupport.co.uk/2024/10/highlights-from-brighton-race-day/) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/the-Neurological-Alliance.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Eurordis.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Rare-Revolution.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/European-Patient-Advocacy-Group.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/REN-member-badge-e1603550053696.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc3.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/candentfoundation.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc1.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/CCSF_Download_HMG-TNLCF-SMALL_DIGITAL-01-e1619526025566.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc2.png) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/PrimaryLogoWhite_crop-1024x275.png)](https://ring20researchsupport.co.uk) © 2021 Ring20 Research and support UK CIO Registered Charity Number 1165651 (England and Wales) SC048893 (Scotland) Website design by [Ginger & Tall](https://www.gingerandtall.co.uk) . 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base64, iVBORw0KGgoAAAANSUhEUgAAACgAAAAoCAMAAAC7IEhfAAAAYFBMVEUAAABhvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq7ZM9ssAAAAH3RSTlMAAQcIDxkbHyQzNTlIT1lhaXuFjp + gp7a5y83Q5 / j5laRs8wAAAQtJREFUeNqNlduWgjAMRQ83UUQEiihayf // 5ayGjgMj7Tr7pS97pU3SptiQ19042Xm209jVOUKc + 6esePbnXe1krPzDmtOXlrQv2eHVJlvvYCSAOay94008j6Yq0rSomod4bsdVPO + 9hwwfsuHtzU / MxO97L7GhvPvdf8 / ZinLFF1dRWl + XJd8LdrgsuS9VMn / xQjGN9sPq + RBAz2ldj3rNtwyJpebeA7n2d0CQQfueoxZHFhYzFWp02g9E0B51GN3SxMTGGSMmt1QxsXLGBC1OERMLLRBmt6QxMXXGTIv01nQydHnogtMtpC8Fe83oi8s + Bfpxsc + VHgDsSKGHFD / 2 + + EHKj2Z 2NPfxw9jnUR5Pvj04QAAAABJRU5ErkJggg ==) ![](//ring20researchsupport.co.uk/wp-content/uploads/2021/01/mother-daughter-playing.jpg) Slide 1 Promovendo pesquisa, educação e apoio contínuo para acabar com os não diagnosticados e os mal diagnosticados Anel20 epilepsia [Sobre nós](https://ring20researchsupport.co.uk/pt/about-us/) [Apoio às famílias\ -----------------\ \ Clique aqui](https://ring20researchsupport.co.uk/pt/for-families/) [Informações para médicos e pesquisadores\ ----------------------------------------\ \ Clique aqui](https://ring20researchsupport.co.uk/pt/for-medics-researchers/) Síndrome do cromossomo 20 em anel ================================= A Síndrome do Cromossomo do Anel 20 ou síndrome r(20), é uma doença ultra-rara cujos principais sintomas são de difícil tratamento epilepsia, declínio cognitivo e distúrbio de comportamento. [Apoio às famílias\ -----------------\ \ Clique aqui](https://ring20researchsupport.co.uk/pt/for-families/) [Informações para médicos e pesquisadores\ ----------------------------------------\ \ Clique aqui](https://ring20researchsupport.co.uk/pt/for-medics-researchers/) [Doe £ 10\ --------\ \ Doar](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=10) [Doe £ 30\ --------\ \ Doar](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=30) [Doe £ 70\ --------\ \ Doar](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=70) [Doar\ ----\ \ outro montante\ \ Doar](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=100) Suas histórias ============== [Clique aqui para todas as histórias](https://ring20researchsupport.co.uk/pt/story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/08/20240730_181350-300x251.jpg)](https://ring20researchsupport.co.uk/pt/story/rachelas-story/) ### [A história de Raquel A](https://ring20researchsupport.co.uk/pt/story/rachelas-story/) Nossa jornada com a Síndrome do Cromossomo 20 em Anel \[r(20)\] provou ser desafiadora e impossível de conviver. Rachel perdeu a vida para a epilepsia há apenas 2 [consulte Mais informação](https://ring20researchsupport.co.uk/pt/story/rachelas-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/sebastian-burckle_JustGiving-e1722268085987-300x222.jpg)](https://ring20researchsupport.co.uk/pt/story/sebastians-story/) ### [A história de Sebastião](https://ring20researchsupport.co.uk/pt/story/sebastians-story/) Sebastian Burckle (21) morreu inesperadamente em setembro de 2023, enquanto estava de férias no México. 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base64, iVBORw0KGgoAAAANSUhEUgAAACgAAAAoCAMAAAC7IEhfAAAAYFBMVEUAAABhvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq7ZM9ssAAAAH3RSTlMAAQcIDxkbHyQzNTlIT1lhaXuFjp + gp7a5y83Q5 / j5laRs8wAAAQtJREFUeNqNlduWgjAMRQ83UUQEiihayf // 5ayGjgMj7Tr7pS97pU3SptiQ19042Xm209jVOUKc + 6esePbnXe1krPzDmtOXlrQv2eHVJlvvYCSAOay94008j6Yq0rSomod4bsdVPO + 9hwwfsuHtzU / MxO97L7GhvPvdf8 / ZinLFF1dRWl + XJd8LdrgsuS9VMn / xQjGN9sPq + RBAz2ldj3rNtwyJpebeA7n2d0CQQfueoxZHFhYzFWp02g9E0B51GN3SxMTGGSMmt1QxsXLGBC1OERMLLRBmt6QxMXXGTIv01nQydHnogtMtpC8Fe83oi8s + Bfpxsc + VHgDsSKGHFD / 2 + EHKj2Z + 2NPfxw9jnUR5Pvj04QAAAABJRU5ErkJggg ==) ![](//ring20researchsupport.co.uk/wp-content/uploads/2021/01/mother-daughter-playing.jpg) Diapositive 1 Promouvoir la recherche, l'éducation et le soutien continu pour mettre fin aux cas non diagnostiqués et mal diagnostiqués Anneau20 épilepsie [À propos de nous](https://ring20researchsupport.co.uk/fr/about-us/) [Soutien aux familles\ --------------------\ \ Cliquez ici](https://ring20researchsupport.co.uk/fr/for-families/) [Informations pour les médecins et les chercheurs\ ------------------------------------------------\ \ Cliquez ici](https://ring20researchsupport.co.uk/fr/for-medics-researchers/) Syndrome du chromosome 20 en anneau =================================== Le syndrome du chromosome 20 en anneau ou syndrome r(20) est une maladie ultra-rare dont les principaux symptômes sont l'épilepsie difficile à traiter, le déclin cognitif et les troubles du comportement. [Soutien aux familles\ --------------------\ \ Cliquez ici](https://ring20researchsupport.co.uk/fr/for-families/) [Informations pour les médecins et les chercheurs\ ------------------------------------------------\ \ Cliquez ici](https://ring20researchsupport.co.uk/fr/for-medics-researchers/) [Faites un don de 10 £\ ---------------------\ \ Faire un don](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=10) [Faites un don de 30 £\ ---------------------\ \ Faire un don](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=30) [Faire un don de 70 £\ --------------------\ \ Faire un don](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=70) [Faire un don\ ------------\ \ autre montant\ \ Faire un don](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=100) Vos histoires ============= [Cliquez ici pour toutes les histoires](https://ring20researchsupport.co.uk/fr/story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/08/20240730_181350-300x251.jpg)](https://ring20researchsupport.co.uk/fr/story/rachelas-story/) ### [L'histoire de Rachel A.](https://ring20researchsupport.co.uk/fr/story/rachelas-story/) Notre parcours avec le syndrome du chromosome 20 en anneau \[r(20)\] s'est avéré difficile et impossible à vivre. Rachel a perdu la vie à cause de l'épilepsie il y a seulement 2 ans. [Lire la suite](https://ring20researchsupport.co.uk/fr/story/rachelas-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/sebastian-burckle_JustGiving-e1722268085987-300x222.jpg)](https://ring20researchsupport.co.uk/fr/story/sebastians-story/) ### [L'histoire de Sébastien](https://ring20researchsupport.co.uk/fr/story/sebastians-story/) Sebastian Burckle (21 ans) est décédé subitement en septembre 2023 alors qu'il était en vacances au Mexique. Sebastian vivait avec le syndrome du chromosome 20 en anneau, une maladie génétique ultra-rare, dont [Lire la suite](https://ring20researchsupport.co.uk/fr/story/sebastians-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/IMG-20190409-WA0010-e1722786902499-263x300.jpg)](https://ring20researchsupport.co.uk/fr/story/ellas-story2/) ### [L'histoire d'Ella – le point de vue d'une amie](https://ring20researchsupport.co.uk/fr/story/ellas-story2/) À tous les parents, amis et professionnels… J'écris ceci dans l'espoir d'apporter un changement à tous ceux qui connaissent un enfant ou un adulte atteint d'un [Lire la suite](https://ring20researchsupport.co.uk/fr/story/ellas-story2/) Dernières nouvelles et recherches ================================= [Cliquez ici pour toutes les nouvelles](https://ring20researchsupport.co.uk/fr/news/) * [Des nouvelles](https://ring20researchsupport.co.uk/fr/category/news/) [Assemblée Générale 2024](https://ring20researchsupport.co.uk/fr/2024/10/agm-2024/) ------------------------------------------------------------------------------------ Lisez les documents de notre dernière assemblée générale [2 minutes](https://ring20researchsupport.co.uk/fr/2024/10/agm-2024/) [Lire la suite](https://ring20researchsupport.co.uk/fr/2024/10/agm-2024/) * [Information](https://ring20researchsupport.co.uk/fr/category/medical-advisor/information/) [Nouvelles brochures d'information pour Ring20](https://ring20researchsupport.co.uk/fr/2024/10/new-information-leaflets-for-ring20/) ------------------------------------------------------------------------------------------------------------------------------------- NOUVEAU!! Nous sommes ravis de présenter deux nouvelles brochures d'information, l'une pour les parents/aidants et l'autre spécifiquement pour les professionnels de la santé : [2 minutes](https://ring20researchsupport.co.uk/fr/2024/10/new-information-leaflets-for-ring20/) [Lire la suite](https://ring20researchsupport.co.uk/fr/2024/10/new-information-leaflets-for-ring20/) * [Blog](https://ring20researchsupport.co.uk/fr/category/blog/) [Les moments forts de la journée de course à Brighton](https://ring20researchsupport.co.uk/fr/2024/10/highlights-from-brighton-race-day/) ------------------------------------------------------------------------------------------------------------------------------------------ [5 minutes](https://ring20researchsupport.co.uk/fr/2024/10/highlights-from-brighton-race-day/) [Lire la suite](https://ring20researchsupport.co.uk/fr/2024/10/highlights-from-brighton-race-day/) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/the-Neurological-Alliance.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Eurordis.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Rare-Revolution.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/European-Patient-Advocacy-Group.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/REN-member-badge-e1603550053696.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc3.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/candentfoundation.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc1.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/CCSF_Download_HMG-TNLCF-SMALL_DIGITAL-01-e1619526025566.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc2.png) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/PrimaryLogoWhite_crop-1024x275.png)](https://ring20researchsupport.co.uk/fr) © 2021 Ring20 Research and support UK CIO Registered Charity Number 1165651 (Angleterre et Pays de Galles) SC048893 (Écosse) Conception du site par [Gingembre & Grand](https://www.gingerandtall.co.uk) . 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[Supporto per le famiglie\ ------------------------\ \ Clicca qui](https://ring20researchsupport.co.uk/it/for-families/) [Informazioni per medici e ricercatori\ -------------------------------------\ \ Clicca qui](https://ring20researchsupport.co.uk/it/for-medics-researchers/) [Dona £ 10\ ---------\ \ Donare](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=10) [Dona £ 30\ ---------\ \ Donare](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=30) [Dona £ 70\ ---------\ \ Donare](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=70) [Donare\ ------\ \ altro importo\ \ Donare](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=100) Le tue storie ============= [Clicca qui per tutte le storie](https://ring20researchsupport.co.uk/it/story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/08/20240730_181350-300x251.jpg)](https://ring20researchsupport.co.uk/it/story/rachelas-story/) ### [La storia di Rachel A](https://ring20researchsupport.co.uk/it/story/rachelas-story/) Il nostro viaggio con la sindrome del cromosoma ad anello 20 \[r(20)\] si è rivelato impegnativo e impossibile da vivere. Rachel ha perso la vita per epilessia solo 2 [Leggi di più](https://ring20researchsupport.co.uk/it/story/rachelas-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/sebastian-burckle_JustGiving-e1722268085987-300x222.jpg)](https://ring20researchsupport.co.uk/it/story/sebastians-story/) ### [La storia di Sebastiano](https://ring20researchsupport.co.uk/it/story/sebastians-story/) Sebastian Burckle (21 anni) è morto improvvisamente nel settembre 2023 mentre era in vacanza in Messico. Sebastian viveva con la sindrome del cromosoma ad anello 20, una condizione genetica ultra rara [Leggi di più](https://ring20researchsupport.co.uk/it/story/sebastians-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/IMG-20190409-WA0010-e1722786902499-263x300.jpg)](https://ring20researchsupport.co.uk/it/story/ellas-story2/) ### [La storia di Ella: il punto di vista di un'amica](https://ring20researchsupport.co.uk/it/story/ellas-story2/) A ogni parente, amico e professionista… scrivo questo con la speranza di portare un cambiamento per chiunque conosca un bambino o un adulto con a [Leggi di più](https://ring20researchsupport.co.uk/it/story/ellas-story2/) Ultime notizie e ricerche ========================= [Clicca qui per tutte le notizie](https://ring20researchsupport.co.uk/it/news/) * [notizia](https://ring20researchsupport.co.uk/it/category/news/) [Assemblea generale annuale 2024](https://ring20researchsupport.co.uk/it/2024/10/agm-2024/) -------------------------------------------------------------------------------------------- Leggi i documenti della nostra ultima assemblea [2 minuti Minuti](https://ring20researchsupport.co.uk/it/2024/10/agm-2024/) [Leggi di più](https://ring20researchsupport.co.uk/it/2024/10/agm-2024/) * [Informazione](https://ring20researchsupport.co.uk/it/category/medical-advisor/information/) [Nuovi opuscoli informativi per Ring20](https://ring20researchsupport.co.uk/it/2024/10/new-information-leaflets-for-ring20/) ----------------------------------------------------------------------------------------------------------------------------- NUOVO!! Siamo entusiasti di presentare due nuovi opuscoli informativi, uno per i genitori / tutori e uno specifico per gli operatori sanitari: [2 minuti Minuti](https://ring20researchsupport.co.uk/it/2024/10/new-information-leaflets-for-ring20/) [Leggi di più](https://ring20researchsupport.co.uk/it/2024/10/new-information-leaflets-for-ring20/) * [Blog](https://ring20researchsupport.co.uk/it/category/blog/) [Momenti salienti del Brighton Race Day](https://ring20researchsupport.co.uk/it/2024/10/highlights-from-brighton-race-day/) ---------------------------------------------------------------------------------------------------------------------------- [5 minuti](https://ring20researchsupport.co.uk/it/2024/10/highlights-from-brighton-race-day/) [Leggi di più](https://ring20researchsupport.co.uk/it/2024/10/highlights-from-brighton-race-day/) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/the-Neurological-Alliance.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Eurordis.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Rare-Revolution.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/European-Patient-Advocacy-Group.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/REN-member-badge-e1603550053696.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc3.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/candentfoundation.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc1.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/CCSF_Download_HMG-TNLCF-SMALL_DIGITAL-01-e1619526025566.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc2.png) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/PrimaryLogoWhite_crop-1024x275.png)](https://ring20researchsupport.co.uk/it) © 2021 Ring20 Ricerca e supporto UK CIO Registered Charity Number 1165651 (Inghilterra e Galles) SC048893 (Scozia) Sito web realizzato da [Ginger & Tall](https://www.gingerandtall.co.uk) . Hosting gentilmente donato da [34sp.com](https://www.34sp.com/) Iscriviti alla nostra mailing list ---------------------------------- Nome E-mail interesse Quale di questi ti descrive meglio?r (20) PazienteGenitore / accompagnatoreAmico / ParenteOperatore sanitarioFarmaceutica / IndustriaOrganizzazione di beneficenza / pazientistampaAltro consenso Iscrivendoti alle notizie da Ring20. Accetto che utilizzerai i miei dati in termini di [politica sulla riservatezza](https://ring20researchsupport.co.uk/it/privacy-policy/) Spedire Utilizziamo i cookie sul nostro sito Web per offrirti l'esperienza più pertinente ricordando le tue preferenze e ripetendo le visite. Cliccando su "Accetta", acconsenti all'uso di TUTTI i cookie. Impostazioni dei cookieACCETTARE Gestisci il consenso Chiudi #### Panoramica sulla privacy Questo sito Web utilizza i cookie per migliorare la tua esperienza durante la navigazione nel sito Web. 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iVBORw0KGgoAAAANSUhEUgAAACgAAAAoCAMAAAC7IEhfAAAAYFBMVEUAAABhvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq5hvq7ZM9ssAAAAH3RSTlMAAQcIDxkbHyQzNTlIT1lhaXuFjp + gp7a5y83Q5 / j5laRs8wAAAQtJREFUeNqNlduWgjAMRQ83UUQEiihayf // 5ayGjgMj7Tr7pS97pU3SptiQ19042Xm209jVOUKc + 6esePbnXe1krPzDmtOXlrQv2eHVJlvvYCSAOay94008j6Yq0rSomod4bsdVPO + 9hwwfsuHtzU / MxO97L7GhvPvdf8 / ZinLFF1dRWl + XJd8LdrgsuS9VMn / xQjGN9sPq + RBAz2ldj3rNtwyJpebeA7n2d0CQQfueoxZHFhYzFWp02g9E0B51GN3SxMTGGSMmt1QxsXLGBC1OERMLLRBmt6QxMXXGTIv01nQydHnogtMtpC8Fe83oi8s + Bfpxsc + VHgDsSKGHFD / 2 + EHKj2Z + 2NPfxw9jnUR5Pvj04QAAAABJRU5ErkJggg ==) ![](//ring20researchsupport.co.uk/wp-content/uploads/2021/01/mother-daughter-playing.jpg) Schuif 1 Onderzoek, onderwijs en continue ondersteuning promoten om een einde te maken aan niet-gediagnosticeerde en verkeerd gediagnosticeerde Ring20 epilepsie [Over ons](https://ring20researchsupport.co.uk/nl/about-us/) [Ondersteuning voor gezinnen\ ---------------------------\ \ Klik hier](https://ring20researchsupport.co.uk/nl/for-families/) [Informatie voor medici en onderzoekers\ --------------------------------------\ \ Klik hier](https://ring20researchsupport.co.uk/nl/for-medics-researchers/) Ringchromosoom 20-syndroom ========================== Ringchromosoom 20-syndroom of r(20)-syndroom is een uiterst zeldzame ziekte waarvan de belangrijkste symptomen moeilijk te behandelen zijn, epilepsie, cognitieve achteruitgang en gedragsstoornissen. [Ondersteuning voor gezinnen\ ---------------------------\ \ Klik hier](https://ring20researchsupport.co.uk/nl/for-families/) [Informatie voor medici en onderzoekers\ --------------------------------------\ \ Klik hier](https://ring20researchsupport.co.uk/nl/for-medics-researchers/) [Doneer £10\ ----------\ \ Doneren](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=10) [Doneer £30\ ----------\ \ Doneren](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=30) [Doneer £ 70\ -----------\ \ Doneren](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=70) [Doneren\ -------\ \ Ander bedrag\ \ Doneren](https://link.justgiving.com/v1/charity/donate/charityId/2924829?tipScheme=TipJar2.1&isRecurring=false&exitUrl=https://ring20researchsupport.co.uk/thank-you-for-your-donation/&reference=Ring20%20website%20donationfalse&suggestedAmountDescription=10:Can%20help%20run%20a%20help%20line%20to%20support%20the%20community.&suggestedAmountDescription=30:Can%20help%20fund%20Research%20into%20diagnosis%20and%20treatment%20of%20r(20).&suggestedAmountDescription=70:Can%20help%20fund%20a%20Wellbeing%20Workshop%20for%20the%20families.&amount=100) Jouw verhalen ============= [Klik hier voor alle verhalen](https://ring20researchsupport.co.uk/nl/story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/08/20240730_181350-300x251.jpg)](https://ring20researchsupport.co.uk/nl/story/rachelas-story/) ### [Het verhaal van Rachel A](https://ring20researchsupport.co.uk/nl/story/rachelas-story/) Onze reis met Ringchromosoom 20-syndroom \[r(20)\] bleek uitdagend en onmogelijk om mee te leven. Rachel verloor haar leven aan epilepsie, slechts 2 [Lees verder](https://ring20researchsupport.co.uk/nl/story/rachelas-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/sebastian-burckle_JustGiving-e1722268085987-300x222.jpg)](https://ring20researchsupport.co.uk/nl/story/sebastians-story/) ### [Sebastiaans verhaal](https://ring20researchsupport.co.uk/nl/story/sebastians-story/) Sebastian Burckle (21) overleed in september 2023 onverwacht tijdens een vakantie in Mexico. Sebastian leefde met het Ringchromosoom 20-syndroom, een uiterst zeldzame genetische aandoening [Lees verder](https://ring20researchsupport.co.uk/nl/story/sebastians-story/) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2024/07/IMG-20190409-WA0010-e1722786902499-263x300.jpg)](https://ring20researchsupport.co.uk/nl/story/ellas-story2/) ### [Ella's verhaal – het perspectief van een vriend](https://ring20researchsupport.co.uk/nl/story/ellas-story2/) Aan elk familielid, vriend en professional… Ik schrijf dit in de hoop verandering te brengen voor iedereen die een kind of volwassene kent met een [Lees verder](https://ring20researchsupport.co.uk/nl/story/ellas-story2/) Laatste nieuws en onderzoek =========================== [Klik hier voor al het nieuws](https://ring20researchsupport.co.uk/nl/news/) * [Nieuws](https://ring20researchsupport.co.uk/nl/category/news/) [Algemene Ledenvergadering 2024](https://ring20researchsupport.co.uk/nl/2024/10/agm-2024/) ------------------------------------------------------------------------------------------- Lees de documenten van onze laatste AVA [2 minuten Minuten](https://ring20researchsupport.co.uk/nl/2024/10/agm-2024/) [Lees verder](https://ring20researchsupport.co.uk/nl/2024/10/agm-2024/) * [Informatie](https://ring20researchsupport.co.uk/nl/category/medical-advisor/information/) [Nieuwe informatiefolders voor Ring20](https://ring20researchsupport.co.uk/nl/2024/10/new-information-leaflets-for-ring20/) ---------------------------------------------------------------------------------------------------------------------------- NIEUWE!! We zijn verheugd om twee nieuwe informatiefolders te presenteren, één voor ouders/verzorgers en één specifiek voor beroepsbeoefenaren in de gezondheidszorg: [2 minuten Minuten](https://ring20researchsupport.co.uk/nl/2024/10/new-information-leaflets-for-ring20/) [Lees verder](https://ring20researchsupport.co.uk/nl/2024/10/new-information-leaflets-for-ring20/) * [Blog](https://ring20researchsupport.co.uk/nl/category/blog/) [Hoogtepunten van de Brighton Race Day](https://ring20researchsupport.co.uk/nl/2024/10/highlights-from-brighton-race-day/) --------------------------------------------------------------------------------------------------------------------------- [5 mins](https://ring20researchsupport.co.uk/nl/2024/10/highlights-from-brighton-race-day/) [Lees verder](https://ring20researchsupport.co.uk/nl/2024/10/highlights-from-brighton-race-day/) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/the-Neurological-Alliance.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Eurordis.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/Rare-Revolution.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/European-Patient-Advocacy-Group.jpg) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/REN-member-badge-e1603550053696.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc3.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/candentfoundation.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc1.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/04/CCSF_Download_HMG-TNLCF-SMALL_DIGITAL-01-e1619526025566.png) ![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/03/disc2.png) [![](https://ring20researchsupport.co.uk/wp-content/uploads/2021/01/PrimaryLogoWhite_crop-1024x275.png)](https://ring20researchsupport.co.uk/nl) © 2021 Ring20 Onderzoek en ondersteuning UK CIO geregistreerd liefdadigheidsnummer 1165651 (Engeland en Wales) SC048893 (Schotland) Website ontwerp door [Ginger & Tall](https://www.gingerandtall.co.uk) . 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