re# syndrome europe ac1vity report · rse is a member of eurordis: allows rse to vote at the ga of...
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Re#SyndromeEuropeAc1vityReport
2015-2016
RSEBoardmembers(2016)
CarolineLietaer YvonneMilne DanijelaSzili WilfriedAsthalter ThomasBertrand
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RSEaimsofthestatutes• AIM1:TomakeRe#syndromebe#erknowntothepublic,professionals,carersandthosewhoaredirectlyconcernedinallEuropeancountries
• AIM2:Toimprovethecommunica1onwithintheEuropeanRe#Community
• AIM3:Topromoteasarepresenta1veEuropeanorganisa1on,theinterestsofpeoplewithRTTandfamilies
• AIM4:ToexpandRSEtoallEuropeancountriesandtoassist,ifnecessary,inthecrea1onofna1onalassocia1ons
• AIM5:TopromoteresearchintoRe#syndrome
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Duringthatday,pa1entrepresenta1ves,researchers,medicaldoctors,directorsofmedicalcentresandofficialsfromtheMinistryofHealthgatheredinfrontofaround80parentsonsiteandhundredsconnectedviaalivestreamtoconnectfamiliesinSpainandotherSpanish-speakingfamiliesaroundtheworld.OnepartoftheconferencewasfocusedontheplaceofRe#syndromeinthelandscapeofEuropeanReferenceNetworks.Thesecondpartofthedayfocusedonthesitua1onofResearchonRe#syndrome.
ThomasBertrandatthe6thCatalanRe2day“TheFutureBeginsToday”(Barcelona–May2016)
Aim1:TomakeRe#syndromebe#erknowntothepublic,professionals,carers[…]
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RSEhasini1atedaprojectofgatheringinforma1ononalargepanelofdifferenttopicsundertheformofRe#UK’sFamilyCompanion.ThisprojectisnotanupdateofUK’sFamilyCompanionbutratherareflec1ononinterna1onalknowledge.Itaimsatfamiliesanddoctorstohaveaminimuminforma1on,hintsaboutthediseaseandwhattododependingonthesitua1on.Thisisnotlikemedicalguidelinesasitshouldstaysimpleandaslightaspossible.Itisnotwri#enbyRSEbutbyprofessionalsaroundEuropecarefullychosenbyRSErepresenta1ves.
CarolineLietaer:“Re2Resource”
Aim1:TomakeRe#syndromebe#erknowntothepublic,professionals,carers[…]
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Theaimofthisprojectistoproduceaneye-catchingprofessionalflyeraboutRSEandourac1vi1es.Inordertoimproveourvisibility/influenceandtoprepareforpossiblefuturefundraising.Theformat(s)isnotyetdecided.
CarolineLietaer,BeckyJenner(Re2UK)–NewRSEFlyer
Aim1:TomakeRe#syndromebe#erknowntothepublic,professionals,carers[…]
AIM2:Toimprovethecommunica1onwithintheEuropeanRe#Community
SinceNovember2015:-Emails
>250(e.g.Thomas)-Re#syndrome.eu
14ar1cles,>1000visitors-RareConnect.org
13discussions,336members,>1000visitors8languages(Russian,Serbo-Croa1an)
publicandprivategroups~300averageviewsperpost–peakJuly16of>1,5Kviews
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• Ac1velycontributetointerna1onaleventsonRe#syndrome– Discussthechoiceoftopics(parents,experts)– Discussthechoiceofspeakers– Financially(e.g.invitedspeakers,luncheons,invitedrepresenta1ves)
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AIM2:Toimprovethecommunica1onwithintheEuropeanRe#Community
Rome Kazan Vienna
AIM3:Topromoteasarepresenta1veEuropeanorganisa1on,theinterestsofpeoplewithRTTandfamilies
• ExternalInfluenceandAdvocacyàHavingRSEofficiallyinthenetworkofEuropeanins:tu:onsàRaisingAwareness
1. RSEisamemberofEURORDIS:AllowsRSEtovoteattheGAof
EURORDISDuringtheECRD(EuropeanCongressforRareDiseasesandOrphanproducts),DanijelainEdinburgh(May2016)
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ExternalInfluenceandAdvocacy2.EURORDISTrainingresources:§ SummerSchool“Acapacitybuildingprogrammeforpa1ent
representa1vesandresearchersoninforma1onandaccesstoorphan,paediatric,advancedtherapiesandhealthtechnologyassessment.” LauraKanapieniene(Lithuania),PedroRocha(Catalonia)-June2016, BarcelonaAPPLICATIONFOR2017SUMMERSCHOOLNOW
3.EURORDISTaskForce:§ DITADrugInforma1onandTransparencyAccessTaskForce(DanijelaSzili)
§ F2FMee:nginNovember2015,Danijelare-electedfor3moreyears.FriðrikFriðriksson(Iceland)waselectedDITAmember.
4.EMAEuropeanMedicinesAgency(London):§ Scien1ficAdvisoryGroupsmee1ng–July2016(DanijelaSzili)SAGsarecreatedbytheCHMP(Commi#eeforMedicinalProductsforHumanUse)todeliveranswers,onaconsulta1vebasis,tospecificques1onsaddressedtothem.TheCommi#ee,whiletakingintoaccounttheposi1onexpressedbytheSAG,remainsresponsibleforitsfinalopinion.
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AIM4:ToExpandRSEtoallEuropeanCountriesandtoassist,ifnecessary,inthecrea1onofna1onalassocia1ons
ü Lithuaniaü Belarusü Kazakhstan² Albania?² Azerbaijan?² Georgia?
à42familyassocia1onsorfamilycontacts11
AIM5:TopromoteresearchintoRe#syndrome
h#p://www.re#databasenetwork.org
«Theaimofthisprojectistoconnectthealreadyexis1ngdatabasesandtocreateaunifiedrepository[…]Thedatawillbeaccessibletothepar1cipantsandtothescien1ficcommunityaccordingtorulesthatassuretransparencyandequity[…]Thisinterna1onaleffortwillbeofgreatvalueinordertoperformgenotype-phenotypecorrela1ons,tostudymodifiergenes,andtoselectsubgroupsofpa1entsforclinicaltrials.»
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PedroRocha(Catalonia)officialdatabaseboardmemberreportstoRSE
(2020lastyear)
AIM5:TopromoteresearchintoRe#syndrome
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• FP7(2007-2013):Modellinginsmallpopula1onsinSPiRe-Innova:veMethodologyforSmallPopula:onsResearch (GérardNguyen–AdvisoryBoard)
IDeAl-IntegratedDesignandAnalysisofsmallpopula:ongrouptrials (GérardNguyen–AdvisoryBoard)
• H2020(2014-2020):RSEregisteredasofficialorganisa1on
AIM5:TopromoteresearchintoRe#syndrome
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1. MarieCurieITN(InnovaFveTrainingNetwork):”SET-NEURO-D”ConsorFumProjectsubmiZedJanuary2016–Projectnotfunded
h#p://ec.europa.eu/programmes/horizon2020/
ResearchAIM5:TopromoteresearchintoRe#syndrome
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MarieCurieITN(InnovaFveTrainingNetwork):”SET-NEURO-D”ConsorFum-SUMMARYSerotoninisakeyneurotransmi#erthatplaysacrucialroleinmul1plephysiologicalprocessesinthecentralnervoussystem,includingcogni1vefunc1onssuchaslearningandmemory,throughtheinterac1onwithatleastfourteendis1nctreceptors.RecentbreakthroughstudiesfrommembersofSET-NEURO-Dconsor1umhaveproposedtheserotonin7receptor(5-HT7R)subtypeasaninnova1vetherapeu1ctargetfortreatmentofimpairedcogni1vefunc1onsinneurodevelopmentalandneurodegenera1vediseases.Theconsor1umwillcreateaEurope-widepartnershipthroughjointeffortsaimedtoexpandtheknowledgeontheroleof5-HT7Rwithmajoremphasisforcogni1veimpairmentinprototypicdiseasessuchasFragile-Xsyndrome(FXS),Re#syndrome(RTT),Alzheimer’sdisease(AD),andParkinson’sdisease(PD).SET-NEURO-Dintegratedresearchac1vi1eswilladvancethedevelopmentofnewtherapeu1cop1ons,thusrespondingtoEUrecommenda1ontoestablishandimplementplanstocombatrarediseases(FXS,RTT)andAD.Theconsor1umincludes9academicresearchgroupsand3companiesfrom8Europeancountries(Italy,Spain,France,UnitedKingdom,Germany,Austria,Poland,Denmark).Thepartnersareinvolvedindrugtargetvalida1onanddrugdiscoveryandareinterna1onally-recognizedexpertsinthefieldof5-HT7Rresearchinvariousdisciplines:medicinalchemistry,cellularanddevelopmentalbiology,molecularbiology,molecularpharmacology,molecularimaging,neurophysiology,andbehaviouralneuropharmacology.Themul1disciplinaryandintersectorialenvironmentofSET-NEURO-Dwillofferhighqualitytrainingto12early-stageresearchersthatwillbeenrolledinPhDprograms.Theywillbeeducatedinscien1ficandtransferableskillsandenrichedwithexperienceinnon-academicsectortoqualifyforcareeropportuni1esinacademiaandprivatesector.Theresearch-through-trainingPhDprojectsaccomplishtheH2020strategyforamodernsystemofeduca1on. Projectnotfunded
AIM5:TopromoteresearchintoRe#syndrome
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• H2020(2014-2020):ERNs–EuropeanReferenceNetwork– Maythisyear(2016)YvonneMilnewaselectedbyEURORDISmembers
tobeanePAG(EuropeanPa1entAdvocacygroup)representa1vetoserveontheBoardoftheproposedERNforthediseasegroup“RareCongenitalMalforma1onsandIntellectualDisability”
CourtesyofEurordis
AIM5:TopromoteresearchintoRe#syndrome
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ERN“RareCongenitalMalforma1onsandIntellectualDisability”DrJillClayton-SmithManchester(UK):Weseektoprovideapa1entcentrednetworkwhichwillmeettheneedsofthosewithrarecongenitalmalforma1onandintellectualdisabilitysyndromes,bothdiagnosedandundiagnosedandwillprovideaninfrastructurefordiagnosis,evidence-basedmanagementandcollec1onofpa1entdata.Thenetworkwilladdvaluetoexis1ngservices,disseminatebestprac1ceguidelinestoop1misepa1entcare,facilitatetrainingandcapacitybuildinginfield,informtheworkofservicecommissionersandfacilitateresearchanddevelopmentoffuturetherapies.
TheprincipleofERNs:-Tofacilitateaccesstobe#erandsaferhealthcareforEUci1zens,includingcrossborderhealthcare-Toincreaseaccesstomedicalexper1seandinforma1onforrarecondi1ons-Tofacilitateapplica1onofresultsofresearch-Todeveloptoolsfortheimprovementofhealthcarequalityandpa1entsafety