InthiseditionwewouldliketodoupdateyouaboutmeasurestakenbytheEJPRD and other organizations to reorganize the activities under the covid-19outbreak,sinceseveraleventshavebeenadjustedtothenewsituation.Specific means/tools are being put in place to facilitate your participation indifferentevents.WewillalsodoaflashbacktotheintenseRareDiseaseAwarenessMonthEJPRDhad!YouwillfindsomeremindersaboutpastandcurrentEJPRDinitiativesandsomerelevanthighlightsfromrarediseasescommunity.Furthermore,inMarchEJPRDjoinedtheWorldBirthDefectDay–3March-andthe International Women Day – 8 March - social media campaigns raisingawarenessoftheseimportantscientificandsocialmatters.

Duetothecurrentcovid-19virusoutbreakpandemic,ourlivesandactivitieshavebeenchangedorarechangingrightnow.Wearefacinganewsituationonaglobalscaleandwearere-organizingourwork,manyeventshavebeencanceled,postponedorre-organisedinonlineformatinordertokeepeverybodysafeandcollaboratealltogethertoovercomethiscrisis.

TheRE(ACT)Congress-IRDiRCConferencehasbeenpostponedto13–16January2021,pleasesavethedate!TheEJPRDInternationalTrainingCourseonstrategiestofostersolutionsofundiagnosedrarediseasecaseswillbeorganizedonlineTheEurordisEuropeanConferenceonRareDiseases&OrphanProducts(ECRD)willalsotakeplaceonlineThe2ndTransplantChildWorkshoponTranslationalResearchhasbeenpostponed

Wewillkeepyoupostedaboutthesituations.

Toconsulttheonlineversionclickhere

Edito

COVID-19OUTBREAK

EJPRDFLASHBACKONTHERAREDISEASEMONTH

TheEJPRDhascelebratedtheRareDiseaseDay(RDD)bylaunchingitsfirstofficialvideo,haveyouseen it?EJPRDhasalsoanewYouTubechannel,morevideoswillcome!Furthermore, our contribution to the RDD was strengthen by a dedicatedmotto:"We are #ejprd and we stand #together4rarediseases to celebrate thecommunityon#rarediseaseday”The 3 hashtags have been identified and used for the Twitter campaign, inparticularthe#together4rarediseaseshasbeenused250times.Fromnowonitwillbeused ineveryEJPRD twitter campaign in support of the rarediseasecommunity. Thankyouall foryourhelpandsupporton this socialmediacampaign.CongratulationstoDr.DariaJulkowska,theEJPRDCoordinator,forhavingbeentheEURORDIS Black Pearl awardee for the European Rare DiseaseLeadership, the ceremony took place in Brussel on 18 February in livestreaming. On the same day, Dr. Daria Julkowska and Prof. Alberto Pereira,CoordinatorEuropeanReferenceNetworkforRareEndocrineConditions(Endo-ERN)wereamongtheinvitedspeakerstothe“ReframeRare”policyeventattheEUParliamenttodiscussareasofactionatEUlevelthatcancontributetotheintegrationofpeoplelivingwithararediseaseintosocietyandimprovetheirlives.Andalwayson29February,thepodcastwithDNARadiohasbeenrelaunchedtomentiontheimportantworkEJPRDisdoingonrarediseasesatEuropeanandinternationalscale.

Don’tforgettheEJPRDHelpdeskisavailableforanyinquiresandservicesprovided by the EJP RD including Clinical Trials SupportOffice and InnovationManagementAdvice.

EJPRDHELPDESK

ImplementingBiomedicalResearchProjects:TheCompleteWorkflowfrom Concept, ELSI and Privacy Considerations to High-QualityBiobankingRegistration for this course is now open, deadline is 2 April. The course isforeseen to take place inGraz, Austria on 11-15May. The applicantswill beinformed in case of changes or moving the course to online version. Thisworkshop is aimed at biomedical researchers, medical professionalsandbiobankmanagerswhowanttoorganizebiomedicalresearchprojectsonhumanbiologicalsamples.Intwomodulestherewillbeseveraluse-casestoaddress the key issues in biomedical research involving human subjects,human biological samples and associatedmedical data. There are #4 travelfellowshipsavailable,participantsfromlower incomecountries(EU-13,Turkey)and patient representatives are encouraged to apply. The workshop andregistrationarefreeofcharge.Mitigationplanisalreadyinplace.

RareDiseasesResearch(RDR)ChallengeCallThe Rare DiseasesResearch ChallengeNetworking Event thattookplaceon3rdMarchin Paris has been asuccess despite theCovid-19 outbreak. Theinnovative RDRChallenges Call will beimplementedtofacilitateand fund collaborationbetween industry,academia, SMEs, andpatient organizations tosolve specific researchchallenges in rarediseases.The call willbelaunchedsoonfora total budget of 1.5Mio€ and it is stillpossible to establishconsortia via a B2B

ClinicalTrialsMethodologyDemonstrationProjectsCallThe Clinical TrialsMethodologyDemonstration ProjectsCall is still open forsubmission of the 1-pagerlettersofinterest.Due to Covid-19outbreak the deadlinehas been postponedto 31 March 2020. Itaims to show theusabilityandcapabilityofthe innovative statisticalmethodologies forclinical trials in rarediseases, which havenotbeendemonstratedon existing data forspecific rare diseaseclinical trials yet. Pleasenote that this call is

NetworkingSupportScheme(NSS)CallThe NSS call providesfunds (up to 30 K€)for the organizationof networkingevents. It aims toencourage sharing ofknowledge on rarediseases and rarecancers of health careprofessionals,researchers andpatients. Theparticipation of usuallyunderrepresentedcountries in Europe innew and in existingresearch networks onrare disease(s) or rarecancer(s) isencouraged. The callis open all year longand the next

EJPRDTRAININGWORKSHOPS&CALLSEJPRDTRAININGWORKSHOP

EJPRDOPENCALLS

tool. open for teams fromALL institutions thatare beneficiaries ofthe EJP RD projectincluding24ERNs.

collection date forevaluation is June 2,2020at2pmCEST.

FundGeneretCall

The Fund Generet Callsupports researchon rare diseases tobetter understandcauses andmechanismsunderpinning rarediseases and/or to turnfundamentaldiscoveriesinto better prevention,diagnosis or treatmentof patients. This annualaward of 1.000.000 €aims to catalyze theresearch agenda onrare diseases inBelgium. The amountwillbepaid in2phasesof 500.000 euros.Deadline is 20 April2020.

PreceptorshipprogramonTreatableLysosomalStorageDiseases(LSDs).29June-1July2020.Salzburg,Austria.

As part of the capacitybuilding and trainingactivities, MetabERN incollaboration with theClinicalResearchCenterin Salzburg and theBrains for BrainFoundation, willorganized this courseaimed at hosting about24 physicians fromdifferent countries whowill share experiencesand updates on therecent developments inMucopolysaccharidoses(MPS). Themeeting willalso provide acomprehensive globalforum for experts andparticipantstoexchangeideas and presentresultsonallaspectsofMPSs. Participant feeand travel expenses(hotel room, train andflight economy class upto 500 Euro roundtrip)are covered andwill bebookedbyCRCSGmbH.For registration andmoreinfoclickhere.

3rdNeuromuscularTranslationSummerSchool.6–10July2020.Leiden,Netherland.

The EURO-NMD andTREAT-NMD building onthe past two summerschools, organize thisresidential course thatwill furnishattendees such asresearchers andclinicianswithawell-rounded knowledgeof the translationalpathway. Attendeeswillalsobenefitfromthevery latestknowledge availableintheneuromuscularcommunity as thiscourse is delivered bykey stakeholder in thefield. To ensure a high-quality learningenvironmentclasssizesare kept deliberatelysmall. It isrecommended to applypromptly to ensure themaximum chance ofsuccessfully securing aplace at their nextSummer School.Registrationisstillopen.

InthissectionyouwillfindtheWorldEconomicForumwhite-paperonrarediseases,thejointstatementofICPerMedandERAPerMedonpersonalizedmedicineinEurope,andsomehighlightsfromRDDactionsfromallovertheworld.Also,ERNsinitiativessuchasmeetingsandtheupdatedlistofforthcomingwebinarsarereported.

GlobalDataAccessforSolvingRareDisease

OTHERCALLS&RELATEDMEETING

RELATEDNEWS

TheWorld Economic Forum (WEF) published thewhite paper on rare diseases “Global DataAccessforSolvingRareDisease”thatreviewsthe “known knowns and known unknowns” of afederated data system solution to the unmetneedsofpeoplelivingwithrarediseases.Thiswillhelpcollaboratingnationstounderstandwhetherfederated data systems area best-fit solutionto the global challenges inherent in rare-diseasediagnosisandtreatmentplans.“Wesupportaglobalapproachtodatasharingtoimprove the diagnosis and treatment of rarediseases,” saidYannLeCam theChiefExecutiveOfficerofEURORDIS -RareDiseasesEuropeandMember of the Council of Rare DiseasesInternational. “Our recent Rare Barometer surveyondata sharingof2,000+ rarediseasepatients,family members and carers shows that, nearly100% of respondents are supportive of data-sharing initiatives to foster research and improvehealthcare and diagnosis. In parallel, 80% ofrespondentswant full or near to full control overthedatatheyshare.Theywanttodecidewhohasaccess to their data, and how and why thosepeopleareusingthatdata.”

In a joint statement “Towards theImplementationofPersonalisedMedicine inEurope – The Advantage of a EuropeanPartnership“, ICPerMed and ERA PerMedunderlined the need for establishing a EuropeanPartnershipforPersonalisedMedicine.Alreadyalothas been achieved by large number ofinternational, pan-European, national as well asregional activities and initiatives. But to furtherdevelop and foster promising personalisedmedicineapproaches,thereisaneedofanevencloser collaboration and effort which could beachieved by a European Partnership forPersonalisedMedicineunderHorizonEurope.

TowardstheImplementationofPersonalisedMedicineinEurope–TheAdvantageofaEuropeanPartnership

RDiRChascelebratedtheRareDiseaseDaywiththeinterviewofitschair-Dr.LuciaMonaco,totheHorizonMagazine.Dr.Monacoonthearticletitled‘Wecandiagnosemorethan4,000rarediseasesbutthere’sstillalongwaytogo’,madeclearthatin RD no one will be left behind and IRDiRC iscommitted to it in order to reduce the“diagnostic odyssey” patients face and bytakingcareofthe“rareamongtherare”withinthe indigenous populations in thedevelopingcountries.

"Wecandiagnosemorethan4,000rarediseasesbutthere’sstillalongwaytogo"

"Youarenotaloneasweallare

« Youarenotaloneasweall areone!” with thismotto the Indian Organisation for Rare Diseases(IORD) celebrated the Rare Disease Day byorganizinga‘RaisingtheAwareness:PreventionofRare Diseases’ conference in Hyderabad, India,wheredifferent stakeholders in theRD field tookpart. While inaugurating the IORD’s conference,EatelaRajender,MinisterofMedical&HealthandFamily Welfare, reiterated the government’scommittedsupporttothecauseofRDpreventionbymakingavailableprenataldiagnostictestingforearlydiagnosis.IORDCEOandPresidentDr.RamaiahMuthyalaremindedthat“thegovernmentcanactivelypromotethemanufacturingoforphandrugsforRDpatientsbyproviding incentivestopharmaceuticalcompanies”andacceleratingdrugrepurposing.

one!”

Jazz4Rare2020,auniquejazzconcerttookplaceonRareDiseaseDayattheEmigrationMuseuminGdynia, Poland. The concert was organized byFoundationofBorystheHero,TataStudioandEmigration Museum in Gdynia to raiseawareness of RD through the power ofmusic.Theeventgatheredalmost300people.Astheorganizersexplainedthechoiceofjazzmusicand location were carefully thought since rarediseases, jazz, and the emigrationmusem sharethesamejourneytotheunknown.

Jazz4Rare2020

AlistofupcomingwebinarsorganizedbythefollowingERNsisavailable:ERN-RND-ERN-EuroNMD-EuropeanAcademyofNeurology(EAN),ERN-EpiCARE,ERKNet,EuroBloodNetInforegardingERKNetandEURO-NMDannualmeetingsscheduledin2020canbefoundhere.

Webinars&Meetings

TwoopeningpositionsareavailableatEJPRDmemberinstitutions:HELPDESKASSISTANT,InstitutionofMyology.FranceTECHNOLOGYTRANSFERASSOCIATE,FondazioneTelethon.Italy

ThisinitiativehasreceivedfundingfromtheEuropeanUnion'sHorizon2020researchandinnovationprogrammeunderGAN°825575

EJPRDiscoordinatedbytheNationalInstituteforHealthandMedicalResearch(INSERM)

ERNsRELATEDINFO

CAREER

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