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DECODING GENETIC DISEASESPERSONALIZING MEDICINE
CongenicaAtTheCentreofTheGenomeRevolutioninMedicine
OurMission• Beaworldleaderingenomicdigitalhealthbybringingcomprehensivegenomeanalysisintoroutineclinicalcare.
• Generatevaluethroughsequencingpatientsandaggregatingomic andclinicalinformationinpartnershipwithresearchers,clinicians,andpatients.
OurEthos• Creatingpatientbenefitfromtheadvancesbeingmadeinhumangenetics.
• Ensuringthesecurityandethicaluseofpatientdata.
RareDiseasesarenotethatrare
That’s350,000,000peoplewithrarediseases
1in17peopleintheworlddevelopararediseaseatsomepointintheirlives.
80% ofrarediseasesaregenetic inorigin 95% ofrarediseaseshave
nodrugtreatment
7,000 differenttypesofrarediseasesanddisorders
3,500,000 30,000,000 30,000,000
30%ofsickchildrenneverreach5th birthday
children
adults
Sources:RareDiseaseUKfamilyreport
Cassino etal.,2013
DecipheringDevelopmentalDisorders
• Transformativeclinicalservicesprovidingdefinitive,genomebaseddiagnoses
• 24UKNHSlabs;180clinicians
• Largestsub-groupofgeneticdiseases(>1,500known)
• StructuredPhenotypeson>14,000familytrios
• PublishedinNatureandLancet
TechnologyBasedonGroundBreakingResearch
Congenica LeadershipTeam
TomWeaverCEO
NickLenchCOO
AndyRichardsNon-Exec.Dir./Chairman
PhilBealesClinicalDirector
Prof.ofMedicalGenetics(UCL,ICH,GOSH)
MatthewHurlesScientificDirector
SeniorGroupLeader,WTSI
RichardDurbinInformaticsDirector
HeadofComputationalBiology,WTSI
ThePatientodyssey
AppropriatetreatmentsandstratifiedtherapiesSurveillanceprogrammes
Makeinformedreproductivechoices
Tests
Medicalconsultation
Symptoms
Diagnostic
WITHCONGENICA
CURRENTAVERAGE
Cassino etal.,2013
51
4.87.3
Patientwithgeneticdisease
years
cliniciansclinician
days
Congenica’s DiagnosticOffering
ClinicalApplications
ResearchApplications
REGISTRIES600vs6000rarediseasesCreatenewregistries
CLINICALTRIALSRapidpa2entrecruitmentWell-characterisedgene2cs
PATIENTSTRATIFICATIONStra2fyresponsetotherapeu2csIden2fycompaniondiagnos2cs
TARGETDISCOVERYBe@erunderstandingofGene2cs
Extremegenotypesfornoveltargets
DRUGREPURPOSINGUnderstanddiseasemechanismsAlterna2veuseoftherapeu2cs
PRECISIONMEDICINECompaniondiagnos2csPersonalisingtreatment
DIAGNOSISCharacterisa2onofdisease
UnderstandingofmechanismsNewtargetiden2fica2on
[email protected]+44(0)1223499965VisitusattheWellcomeGenomeCampusinCambridge,UK
