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UpdateontheSDYCaseRegistry HeatherMacLeod,MSCGC
WhatistheSuddenDeathintheYoung(SDY)CaseRegistry?
TheSDYCaseRegistrycompilesandstoresinforma9onaboutsuddeninfantandchilddeathstohelp:• Countthenumberandtypesofsuddendeathsuptoage20*
• Understandthecausesandriskfactors• Informwaystopreventthesedeaths*dependsonstateCDRlegislaKon
SDYCaseRegistryGoals
Establish the incidence of sudden death in the young in the United States
Investigate causes and risk factors for sudden death in the young
Surveillance
Research
SDYCaseRegistry
SDYCaseRegistry
Par$cipa$ngstatesinclude:• California(SanFrancisco)• Delaware• Georgia• Minnesota• NewHampshire• NewJersey• Nevada• Tennessee• Virginia(TidewaterRegion)• Wisconsin(selected
jurisdicKons)
SDYCaseRegistryProcess
Data and
DNA Samples
used for
research on
causes of SDY
SurveillanceUpdate
• SurveillancestartedJanuary2015– 1520SDYCasesIdenKfied– 1160CasesCleaned
• Nextsteps:usecategorizaKondatatodetermineincidence
ResearchUpdate
Samples
=
-20°Cor-80°C
cryovial
Heart
Liver
Spleen
EDTABlood
SuccessfulDNAExtracKonfor
99%ofsamples
NHLBI-FundedSDYResearchers
Channelopathies and cardiomyopathies among sudden deaths in the young
Alfred George and Elizabeth McNally
Role of genetic variants in sudden death in the young
Prince Kannankeril
Integrating genomic and clinical approaches to sudden death in the young
Martin Tristani-Firouzi and Mark Yandell
ConsentandResearchGeneKcTesKng
150SamplesatBiorepositoryConsented
146ConsentedforResearch
GeneKcTesKng
113SamplesSentforGenome
Sequencing
LookingAhead
2014-2018 2019-2023
• RegistryfundedforanaddiKonal5yearcycle
• Increasenumberofstates/jurisdicKons
• Increaseresourcesforconsent/biospecimenacKviKes
Wearehere
HowCanIBeInvolved?
• EncourageyourforensicpathologiststousetheSDYCaseRegistrytoolsandsavebiospecimensforDNAbankingand/orfuturegeneKctesKng
• FreezebloodinplasKcK2EDTAvacutainersand/orfreezefreshKssue
• EncourageyourCDRteamtousetheSDYCaseRegistryVariablestheCaseReporKngSystem–theyareaccessibletoallteams:www.ncfrp.org
• Ifyouareinafundedstate/jurisdicKoncontactyourpublichealthofficeandofferyourselfasaresource
Resources
Rememberifyoucannottest,alempttobankDNA
• GeneTests:– hlps://www.genetests.org
• SearchDNABanking
SDYCaseRegistryDataCoordinaKngCenterWebsite
Website:www.SDYRegistry.org
GeneKcCounselors
www.nsgc.org/[email protected]
• InformaKonSheetforFamilies• TemplateforSampleReleasefromME/Coffices• LelerofMedicalNecessityforInsurance
findageneKccounselor.com
"Knight,LauraD"<[email protected]>
CONTACTINFORMATION:
Website: labs.feinberg.northwestern.edu/websterPhone: 312-227-2525Email: [email protected]
ApotenKalresearchopKonforpaKentsandfamilieswhohavesurvivedasuddencardiaceventatayoungage.InformaKonbelowtocontacttheWebsterlabtolearnmoreabouteligibilitycriteriaandhearmoreaboutthestudy.
Acknowledgements:SDYCaseRegistry
CentersforDiseaseControlandPrevenKon(CDC)CarrieShapiro-Mendoza,CarriColengim,AlexaErckLambert,SharynParks,ChrisKne
Olson,RosemarieKobau,NiuTian,andDaveThurman
NaKonalCenterforFatalityReviewandPrevenKonHeatherDykstra,EstherShaw,MeghanFaulkner,LindaPoler,ErikBuczkowskiandAbby
Collier
NaKonalInsKtutesofHealth(NIH)JonathanKaltman,KrisKnBurns,andVickyWhilemore
MPHIDataCoordinaKngCenterandUniversityofMichiganBiorepository
MeghanFaulkner,HeatherMacLeod,MarkRussell,AlissaNovak,HeatherDykstra,andEstherShaw
SDYRegistryGranteesMinnesota,Nevada,NewJersey,NewHampshire,Wisconsin,Delaware,Georgia,
Tennessee,SanFranciscoCountyinCalifornia,TidewaterRegionofVirginia
Acknowledgements:SDYCaseRegistry
SDYAdvisoryCommi@ee:LisaBateman,RobertCampbell,SumeetChugh,LauraCrandall,SamGulino,GardinerLapham,MarthaLopez-Anderson,KurtNolte,DavidThurmanandVickiVeler
SDYAutopsyProtocolCommi@ee:KarenChancellor,BeauClark,TimCorden,KimFallon,CorinneFligner,SamGulino,WendyGunther,JenniferHammers,OwenMiddletonandMichael
Murphy
SDYEthicists:AmyMcGuireandSoniaSuter
