Rare disease - Wikipedia

Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases ... Raredisease FromWikipedia,thefreeencyclopedia Jumptonavigation Jumptosearch Diseaseaffectingasmallpercentageofthepopulation Ararediseaseisanydiseasethataffectsasmallpercentageofthepopulation.Insomepartsoftheworld,anorphandiseaseisararediseasewhoseraritymeansthereisalackofamarketlargeenoughtogainsupportandresourcesfordiscoveringtreatmentsforit,exceptbythegovernmentgrantingeconomicallyadvantageousconditionstocreatingandsellingsuchtreatments.Orphandrugsareonessocreatedorsold. Mostrarediseasesaregeneticandthusarepresentthroughouttheperson'sentirelife,evenifsymptomsdonotimmediatelyappear.Manyrarediseasesappearearlyinlife,andabout30%ofchildrenwithrarediseaseswilldiebeforereachingtheirfifthbirthday.[1]Withonlyfourdiagnosedpatientsin27years,ribose-5-phosphateisomerasedeficiencyisconsideredtherarestknowngeneticdisease.[2][3] Nosinglecut-offnumberhasbeenagreeduponforwhichadiseaseisconsideredrare.Adiseasemaybeconsideredrareinonepartoftheworld,orinaparticulargroupofpeople,butbecommoninanother. TheUSorganisationGlobalGeneshasestimatedthatmorethan300millionpeopleworldwidearelivingwithoneoftheapproximately7,000diseasestheydefineas"rare"intheUnitedStates.[4] Contents 1Definition 2Relationshiptoorphandiseases 3Prevalence 4Characteristics 5Publicresearchandgovernmentpolicy 5.1UnitedStates 5.2UnitedKingdom 6Publicawareness 7Seealso 8References 9Externallinks Definition[edit] Thereisnosingle,widelyaccepteddefinitionforrarediseases.Somedefinitionsrelysolelyonthenumberofpeoplelivingwithadisease,andotherdefinitionsincludeotherfactors,suchastheexistenceofadequatetreatmentsortheseverityofthedisease. IntheUnitedStates,theRareDiseasesActof2002definesrarediseasestrictlyaccordingtoprevalence,specifically"anydiseaseorconditionthataffectsfewerthan200,000peopleintheUnitedStates",[5]orabout1in1,500people.ThisdefinitionisessentiallythesameasthatoftheOrphanDrugActof1983,afederallawthatwaswrittentoencourageresearchintorarediseasesandpossiblecures. InJapan,thelegaldefinitionofararediseaseisonethataffectsfewerthan50,000patientsinJapan,orabout1in2,500people.[6] However,theEuropeanCommissiononPublicHealthdefinesrarediseasesas"life-threateningorchronicallydebilitatingdiseaseswhichareofsuchlowprevalencethatspecialcombinedeffortsareneededtoaddressthem".[7]Thetermlowprevalenceislaterdefinedasgenerallymeaningfewerthan1in2,000people.[8]Diseasesthatarestatisticallyrare,butnotalsolife-threatening,chronicallydebilitating,orinadequatelytreated,areexcludedfromtheirdefinition. Thedefinitionsusedinthemedicalliteratureandbynationalhealthplansaresimilarlydivided,withdefinitionsrangingfrom1/1,000to1/200,000.[6] Definitionsofrarediseaseindifferentcountries:anincompletelist[9] Country Patientratioasdefined Patientratiostandardisedforcomparison Brazil 65in100,000 1in1,538 UnitedStates <200,000inpopulation[5] 1in1,659 Argentina 1in2,000 1in2,000 Australia 5in10,000 1in2,000 Chile 5in10,000 1in2,000 Colombia 1in2,000 1in2,000 EuropeanUnion 5in10,000 1in2,000 Mexico 5in10,000 1in2,000 Norway 5in10,000 1in2,000 Panama 1in2,000 1in2,000 Singapore 1in2,000 1in2,000 Switzerland 5in10,000 1in2,000 UnitedKingdom 1in2,000[10] 1in2,000 Japan <50,000inpopulation[6] 1in2,507 RussianFederation 10in100,000 1in10,000 Peru 1in100,000 1in100,000 Relationshiptoorphandiseases[edit] Becauseofdefinitionsthatincludereferencetotreatmentavailability,alackofresources,andseverityofthedisease,thetermorphandiseaseisusedasasynonymforraredisease.[6]ButintheUnitedStatesandtheEuropeanUnion,"orphandiseases"haveadistinctlegalmeaning. TheUnitedStates'OrphanDrugActincludesbothrarediseasesandanynon-rarediseases"forwhichthereisnoreasonableexpectationthatthecostofdevelopingandmakingavailableintheUnitedStatesadrugforsuchdiseaseorconditionwill[be]recoveredfromsalesintheUnitedStatesofsuchdrug"asorphandiseases.[11] TheEuropeanOrganizationforRareDiseases(EURORDIS)alsoincludesbothrarediseasesandneglecteddiseasesintoalargercategoryof"orphandiseases".[12] Prevalence[edit] Prevalence(numberofpeoplelivingwithadiseaseatagivenmoment),ratherthanincidence(numberofnewdiagnosesinagivenyear),isusedtodescribetheimpactofrarediseases.TheGlobalGenesProjectestimatessome300millionpeopleworldwideareaffectedbyararedisease. TheEuropeanOrganizationforRareDiseases(EURORDIS)estimatesthatasmanyas5,000to7,000distinctrarediseasesexist,andasmuchas6%to8%ofthepopulationoftheEuropeanUnionisaffectedbyone.[12]Onlyabout400rarediseaseshavetherapiesandabout80%haveageneticcomponentaccordingtoRareGenomicsInstitute.[13] Rarediseasescanvaryinprevalencebetweenpopulations,soadiseasethatisrareinsomepopulationsmaybecommoninothers.Thisisespeciallytrueofgeneticdiseasesandinfectiousdiseases.Anexampleiscysticfibrosis,ageneticdisease:itisrareinmostpartsofAsiabutrelativelycommoninEuropeandinpopulationsofEuropeandescent.Insmallercommunities,thefoundereffectcanresultinadiseasethatisveryrareworldwidebeingprevalentwithinthesmallercommunity.Manyinfectiousdiseasesareprevalentinagivengeographicareabutrareeverywhereelse.Otherdiseases,suchasmanyrareformsofcancer,havenoapparentpatternofdistributionbutaresimplyrare.Theclassificationofotherconditionsdependsinpartonthepopulationbeingstudied:Allformsofcancerinchildrenaregenerallyconsideredrare,[14]becausesofewchildrendevelopcancer,butthesamecancerinadultsmaybemorecommon. About40rarediseaseshaveafarhigherprevalenceinFinland;theseareknowncollectivelyasFinnishheritagedisease.Similarly,thereareraregeneticdiseasesamongtheAmishreligiouscommunitiesintheUSandamongethnicallyJewishpeople. Characteristics[edit] Ararediseaseisdefinedasonethataffectsfewerthan200,000peopleacrossabroadrangeofpossibledisorders.[15]Chronicgeneticdiseasesarecommonlyclassifiedasrare.[15][16]Amongnumerouspossibilities,rarediseasesmayresultfrombacterialorviralinfections,allergies,chromosomedisorders,degenerativeandproliferativecauses,affectinganybodyorgan.[15]Rarediseasesmaybechronicorincurable,althoughmanyshort-termmedicalconditionsarealsorarediseases.[15] Publicresearchandgovernmentpolicy[edit] UnitedStates[edit] TheNIH'sOfficeofRareDiseasesResearch(ORDR)wasestablishedbyH.R.4013/PublicLaw107-280in2002.[17]H.R.4014,signedthesameday,referstothe"RareDiseasesOrphanProductDevelopmentAct".[18]SimilarinitiativeshavebeenproposedinEurope.[19]TheORDRalsorunstheRareDiseasesClinicalResearchNetwork(RDCRN).TheRDCRNprovidessupportforclinicalstudiesandfacilitatingcollaboration,studyenrollmentanddatasharing.[20] UnitedKingdom[edit] In2013,theUnitedKingdomgovernmentpublishedTheUKStrategyforRareDiseaseswhich"aimsto ensurenoonegetsleftbehindjustbecausetheyhaveararedisease",with51recommendationsforcareandtreatmentacrosstheUKtobeimplementedby2020.[21]Healthservicesinthefourconstituentcountriesagreedtoadoptimplementationplansby2014,butbyOctober2016,theHealthServiceinEnglandhadnotproducedaplanandtheall-partyparliamentarygrouponRare,GeneticandUndiagnosedConditionsproducedareportLeavingNoOneBehind:WhyEnglandneedsanimplementationplanfortheUKStrategyforRareDiseasesinFebruary2017.[22]InMarch2017itwasannouncedthatNHSEnglandwoulddevelopanimplementationplan.[23]InJanuary2018NHSEnglandpublisheditsImplementationPlanfortheUKStrategyforRareDiseases.[24]InJanuary2021theDepartmentofHealthandSocialCarepublishedtheUKRareDiseasesFramework,apolicypaperwhichincludedacommitmentthatthefournationswoulddevelopactionplans,workingwiththerarediseasecommunity,andthat"wherepossible,eachnationwillaimtopublishtheactionplansin2021".[25] Organisationsaroundtheworldareexploringwaysofinvolvingpeopleaffectedbyrarediseasesinhelpingshapefutureresearch,includingusingonlinemethodstoexploretheperspectivesofmultiplestakeholders.[26] Publicawareness[edit] RareDiseaseDayisheldinEurope,Canada,theUnitedStatesandIndiaonthelastdayofFebruarytoraiseawarenessforrarediseases.[27][28][29][30] Seealso[edit] NationalOrganizationforRareDisorders(NORD) UndiagnosedDiseasesNetwork(UDN) Orphanet(Onlineportalforrarediseasesandorphandrugs) ICDcodingforrarediseases Listofrarediseaseorganisations OrphanetJournalofRareDiseases(academicjournal) RareDiseaseDay Idiopathicdisease MysteryDiagnosis Healthcarerationing References[edit] ^"RareDiseases".Siope.Eu.9June2009.Archivedfromtheoriginalon3December2012.Retrieved24September2012. ^WamelinkMM,GrüningNM,JansenEE,BluemleinK,LehrachH,JakobsC,RalserM(September2010)."Thedifferencebetweenrareandexceptionallyrare:molecularcharacterizationofribose5-phosphateisomerasedeficiency".JournalofMolecularMedicine.88(9):931–9.doi:10.1007/s00109-010-0634-1.hdl:1871/34686.PMID 20499043.S2CID 10870492. ^Kaur,Parneet;Wamelink,MirjamM.C.;vanderKnaap,MarjoS.;Girisha,KattaMohan;Shukla,Anju(1August2019)."ConfirmationofaRareGeneticLeukoencephalopathyduetoaNovelBi-allelicVariantinRPIA".EuropeanJournalofMedicalGenetics.62(8):103708.doi:10.1016/j.ejmg.2019.103708.ISSN 1769-7212. ^"RAREList".GlobalGenes.15April2016.Retrieved15April2016. ^ab"RareDiseaseActof2002".UnitedStatesCongress.Retrieved21January2022. ^abcd"Rarediseases:whatarewetalkingabout?".Rarediseasescentre-VenetianRegion-Italy.Retrieved21January2022. ^"UsefulInformationonRareDiseasesfromanEUPerspective"(PDF).EuropeanCommission.Retrieved19May2009. ^BaldovinoS,MolinerAM,TaruscioD,DainaE,RoccatelloD(June2016)."RareDiseasesinEurope:fromaWidetoaLocalPerspective"(PDF).TheIsraelMedicalAssociationJournal(Review).18(6):359–63.PMID 27468531. ^"KEIBriefingNote2020:4SelectedGovernmentDefinitionsofOrphanorRareDiseases".KnowledgeEcologyInternational.Retrieved12September2021. ^"TheUKRareDiseasesFramework".GOV.UK.9January2021.Retrieved12September2021. ^OrphanDrugAct§526(a)(2) ^ab"RareDiseases:UnderstandingThisPublicHealthPriority"(PDF).EuropeanOrganisationforRareDiseases(EURORDIS).November2005.Retrieved16May2009. ^Sanfilippo,Ana;Lin,Jimmy(2014).RareDiseases,Diagnosis,Therapies,andHope.St.Louis,MO:RareGenomicsInstitute.p. 6. ^"02/2009:RareCancersonRareDiseaseDay".Ecpc-online.org.28February2009.Archivedfromtheoriginalon26July2011.Retrieved24September2012. ^abcd"GeneticandRareDiseasesInformationCenter".NationalCenterforAdvancingTranslationalSciences,USNationalInstitutesofHealth.2019.Retrieved12October2019. ^AyméS,SchmidtkeJ(December2007)."Networkingforrarediseases:anecessityforEurope".Bundesgesundheitsblatt,Gesundheitsforschung,Gesundheitsschutz.50(12):1477–83.doi:10.1007/s00103-007-0381-9.PMID 18026888.S2CID 36072660. ^"PresidentSignsBillsintoLaw". ^"NORD-NationalOrganizationforRareDisorders,Inc".Archivedfromtheoriginalon18June2008. ^"OrphaNewsEurope :thenewsletteroftheRareDiseaseTaskForce". ^RDCRN ^TheUKStrategyforRareDiseases(PDF).DepartmentofHealth.2013.Retrieved26October2017. ^AllPartyParliamentaryGrouponRare,GeneticandUndiagnosedConditions(February2017).LeavingNoOneBehind:WhyEnglandneedsanimplementationplanfortheUKStrategyforRareDiseases(PDF).RareDiseaseUK.Retrieved29January2018. ^"TheWestminsterAllPartyParliamentaryGrouponRare,GeneticandUndiagnosedConditions".GeneticAllianceUK.Retrieved26October2017. ^ImplementationPlanfortheUKStrategyforRareDiseases(PDF).NHSEngland.29January2018.Retrieved29January2018. ^"TheUKRareDiseasesFramework".GOV.UK.DepartmentofHealthandSocialCare.9January2021.Retrieved12January2021. ^NunnJS,GwynneK,GrayS,LacazeP(March2021)."Involvingpeopleaffectedbyarareconditioninshapingfuturegenomicresearch".ResearchInvolvementandEngagement.7(1):14.doi:10.1186/s40900-021-00256-3.PMC 7958104.PMID 33722276. ^"February29thIsTheFirstRareDiseaseDay".MedicalNewsToday.28February2008.Retrieved14February2009. ^"JoinUsInObservingRareDiseaseDayOnFeb.28,2009!".NationalOrganizationforRareDisorders.Archivedfromtheoriginalon18December2008. ^"MillionsAroundWorldtoObserveRareDiseaseDay".PRNewswire.13February2009.Retrieved14February2009.[permanentdeadlink] ^"RareDiseasesDay:Expertscallformoreresearchforpatients'welfare".TheIndianExpress.28February2021.Retrieved12September2021. Externallinks[edit] DatabaseofrarediseasesatGARD,TheUnitedStatesGeneticandRareDiseasesInformationCenter DatabaseofrarediseasesatOrphanet NationalOrganizationforRareDisorders(UnitedStates) RareDiseaseUK Rarediseasessearchengine AuthoritycontrolNationallibraries UnitedStates Japan Other FacetedApplicationofSubjectTerminology Retrievedfrom"https://en.wikipedia.org/w/index.php?title=Rare_disease&oldid=1074927841" Categories:RarediseasesHiddencategories:AllarticleswithdeadexternallinksArticleswithdeadexternallinksfromJanuary2018ArticleswithpermanentlydeadexternallinksArticleswithshortdescriptionShortdescriptionisdifferentfromWikidataUsedmydatesfromJune2013ArticleswithLCCNidentifiersArticleswithNDLidentifiersArticleswithFASTidentifiers Navigationmenu Personaltools NotloggedinTalkContributionsCreateaccountLogin Namespaces ArticleTalk English expanded collapsed Views ReadEditViewhistory More expanded collapsed Search Navigation MainpageContentsCurrenteventsRandomarticleAboutWikipediaContactusDonate Contribute HelpLearntoeditCommunityportalRecentchangesUploadfile Tools WhatlinkshereRelatedchangesUploadfileSpecialpagesPermanentlinkPageinformationCitethispageWikidataitem Print/export DownloadasPDFPrintableversion Inotherprojects WikimediaCommons Languages العربيةBosanskiBrezhonegCatalàČeštinaDanskDeutschΕλληνικάEspañolEsperantoEuskaraفارسیFrançaisGalego한국어हिन्दीBahasaIndonesiaItalianoLatviešuМакедонскиമലയാളംBahasaMelayuNederlands日本語NorskbokmålPortuguêsRomânăРусскийSlovenščinaСрпски/srpskiSrpskohrvatski/српскохрватскиSuomiSvenskaไทยTürkçeУкраїнськаTiếngViệt中文 Editlinks