IRDiRC highlights · 2020-01-23 · on the editorial board of the journal Expert Opinion Orphan...
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http://www.irdirc.org/ Join a major event on rare diseases in 2020: The RE(ACT) Congress and IRDiRC Conference 11-14 March 2020, Berlin – Germany. Early bird registration closes on 20 Dec 2019! Young and professional scientists, patients & patient representatives, and other rare diseases stakeholders are welcome to discuss latest cutting-edge research, innovation, and policy with the rare disease leaders . The scientific program – inspired by IRDiRC principles, achievements, and activities foreseen in 2020- encompasses topics like diagnosis & artificial intelligence, molecular etiology, innovative clinical trials, patient engagement and drugs for all. Register and submit your abstract , there is still time! Blackswan Foundation and IRDiRC in collaboration with EJP RD organize this exceptional joint edition. Join our social media campaigns by copy and paste the texts here . IRDiRC Newsletter 13. December 2019 IRDiRC highlights
Transcript of IRDiRC highlights · 2020-01-23 · on the editorial board of the journal Expert Opinion Orphan...
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Joinamajoreventonrarediseasesin2020:TheRE(ACT)CongressandIRDiRCConference
11-14March2020,Berlin–Germany.Earlybirdregistrationcloseson20Dec2019!
Youngandprofessionalscientists,patients&patientrepresentatives,and other rare diseases stakeholders arewelcome to discuss latestcutting-edge research, innovation, and policy with the rare diseaseleaders.Thescientificprogram– inspiredby IRDiRCprinciples,achievements,andactivities foreseen in2020-encompasses topics likediagnosis&artificialintelligence,molecularetiology,innovativeclinicaltrials,patientengagement and drugs for all. Register and submit your abstract,thereisstilltime!Blackswan Foundation and IRDiRC in collaboration with EJP RDorganizethisexceptionaljointedition.Joinoursocialmediacampaignsbycopyandpastethetextshere.
IRDiRCNewsletter13.December2019
IRDiRChighlights
Privacy-Preserving Linkage ofGenomic and Clinical Data Sets.Dixie B. Baker, BarthaM. Knoppers ,Mark Phillips , David van Enckevort ,Petra Kaufmann, Hanns Lochmuller,and Domenica Taruscio. IEEE/ACMTransactions on ComputationalBiologyandBioinformatics,2019.Task Force: Privacy-preservingdatalinkage.
The Exomiser is a Java programdeveloped to find potential disease-causing variants in whole-exome orwhole-genome sequencing data.Exomiser functionally annotatesvariants from whole-exomesequencingdatainVCF4format.Thefunctional annotation is performedwith Jannovar and uses UCSCKnownGenetranscriptdefinitionsandhg19 genomic coordinates. TheExomiser was developed by theComputational Biology andBioinformatics group at the Institutefor Medical Genetics and HumanGenetics of the Charité -UniversitätsmedizinBerlin, theMouseInformatics Group at the SangerInstitute and other members of theMonarchinitiative.
The IRDiRC Consortium Assembly (CA) gathered for its fall face-to-facemeetingonNov21-22attheInsermBioparkinParis,France.Thepurposeofthis meeting was to define the workplan for the new year with the formalapprovaloftheRoadmap2020,theintroductionofnewIRDiRCmembers,andshareupdatesontheactivitiescarriedoutbyourmembers'organizationsthis
IRDiRCmeetings
past year (2019) in the different countries. Therewere two parallel sessions(FunderswithCompanies;PatientAdvocates)andaplenarysessionwherewehadtheopportunitytodefinecommonstrategiestoimproveourengagementwithpatientorganizations,furtherincreaseourworkingnetworkasconsortiumtowardnewstakeholders,andincreaseourvisibilitybysharingourvisionacrossdifferentcommunities.
WorkPlanfor2020
Severalnew IRDiRCactivities,prioritizedbytheConsortiumAssembly, willbeconductedbydedicatedtaskforcesorworkinggroupsintheupcomingyear.IRDiRCactions:
SharedMolecularEtiology. Groupingrarediseasepatientsbasedontheunderlyingmolecularetiologyhasthepotentialtoineffectreducethenumbers of disease, while greatly increasing the number of patientsgainingaccess toclinical trials.The focusof thisactivity is toadapt themolecular targetedbasket trialsapproach fromoncologyandapply it todrugs that target shared molecular etiologies underlying multiple rarediseases.RareDiseases TreatmentAccess. Treatments are often unavailablefor rarediseasepatients, especially in low-and-middle-incomecountriesand that for a variety of reasons. The goal of leaving no one behindrequiresthataccesstotreatmentsbeavailableforrarediseasepatientsthroughouttheworld.Todeliverthisgoal,theworkinggroupwilladdressbarrierstoaccessingRDdrugsinvariouscountriesandcompilealistofstandard-of-careproductsforRDstomakeitavailableforallcountries.ChrysalisProject.Thegoalofthisactivityistoidentify:(1)keycriteriathat would make RD research more attractive to industry; (2)gaps/opportunities in the current funding landscape to delivery againstthe criteria; (3) other non-financial barriers related to attractiveness ofmeeting such criteria. Ultimately, this will provide opportunities forexpandingthenumberoftreatableRDsthroughidentificationofdiseasesthat already respond to most criteria used to inform industry R&Ddecisionsfororphandrugs.IntegratingNewTechnologiesfortheDiagnosisofRD.Identifythemost clinically beneficial combination(s) of metabolomic and genomictestscoupledwithartificialintelligencemethodologies,whichwouldthenbe prioritized for the development of diagnostic standards. This willultimately lead to the more rapid adoption of newtechniques/technologiesandincreasethebenefittopatientsabovethecurrentdiagnosticalgorithms.
CallforexpertswillbepublishedontheIRDiRCwebsiteinearly
2020
Staytunedforournewslettereditionsin2020,sincewewillbedevelopingspecificfocusoneachoftheseactivities!
IRDiRCispleasedtoannouncethreenewmembersintheConsortiumaspartoftheTherapiesScientificCommittee(TSC),welcome!
Anneliene Jonker is the FundingOfficer of the TechMedCentre, at theUniversityofTwentes,TheNetherlands.Inthisposition,sheisresponsiblefor setting up funding strategies for different researchers in thepersonalizedmedicine-,medtech,andrarediseasesdomain.Janet Maynard is the Director of the Office of Orphan ProductsDevelopment (OOPD) at the FDA, USA. In her role, she overseeslegislatively mandated designation and grant programs intended topromotethedevelopmentofproductsforrarediseases.Inaddition,sheleads thecoordinationof thecross-cutting raredisease issuesand theengagementwithpatients,sponsors,andotherstakeholders.DanielO’ConnorworksinthelicensingdivisionoftheMHRA,UK.HeistheUK representative on the Committee for Orphan Medicinal Products(COMP)andobserverontheEMA’sOncologyWorkingParty.HehasalsocontributedasaCOMPtomembertotheEMA’sScientificAdviceWorkingParty(SAWP)andthePatientandConsumerWorkingParty(PCWP).Heis
IRDiRCnewmembers
ontheeditorialboardofthejournalExpertOpinionOrphanDrugs.
IRDiRCcongratulatesDr.DariaJulkowskaforhavingbeen awarded of the EURORDIS Black Pearl -European Rare Disease Leadership Award!Congratulation for this importantachievement.
Dr.DariaJulkowskawontheEURORDISBlackPearl2020-EuropeanRareDiseaseLeadershipAward
IRDiRC congratulates Prof. Annemieke Aartsma-Rus for having been awarded of the EURORDISBlackPearl-ScientificAwards2020!Congratulation for this importantachievement.
Prof.AnnemiekeAartsma-RuswontheEURORDISBlackPearl2020-ScientificAward
Podcast episode of Improbable Developmentswith Dr. Dave Pearce, President of Innovationand Research Sanford Research and and ViceChair of the IRDiRC Consortium Assembly. Dr.Pearceshareshis inspiringstoryandhowhegotinvolved in Batten Disease research and wherethatworkhastakenhimsince.
HopeCanBeCurative.
TheIRDiRCScientificSecretariatwishesyouallaMerryChristmasand
HappyNewYear!
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