WElcome
Foryesterdayisbutamemory Andtomorrowisonlyavision
Buttodaywelllived makeseveryyesterdayamemoryofhappiness andeverytomorrowavisionofhope Lookwell,therefore,tothisday
AncientSanskritpoem
Thispoemsumsup,forme,whywearecomingtogetheronthe9th November.
Travelling,planning,hoping,worrying;allofitsowecanconnectandhelp eachothertolivewell-supportingourselvesandothers.Ourindividual andcollectiveneedsarebroughttogetherinMSUK’sconference,wecan makethebestofwhatwehaveandfightforchange.Thanksforbeing here-it’saloteasiertodothistogether.LivingwithanIMDbrings challengesandopportunitiesthatpeoplejustcannotunderstandinthe waythatourcommunitycan,hereyouareamongfriendsandwecan relax,learnandfeelunderstood.
Thisyearwehavebookedamoreintimatespace,havebroughtinmore speakersandarrangeddisease-specificsessions,allinresponsetoyour feedback.Wearealwayslisteningtoyou.
Thankyouforbeingheretoday,wehopeyougohomewithnewfriends, knowledgeandconfidencethatyouarealldoingthebestyoucan.
Kirstyx
Before the day
Pleasemakesureyou’veconfirmedyour attendancewithToni!Questions?
Emailtoni@metabolicsupportuk.org
The Venue
We’relookingforwardtowelcomingyoutoourlovelyvenue,thestudioin Birmingham.Here’ssomehelpfulinformationforanylastminuteplanning! thestudio 7CannonStreet Birmingham B25EP
Travelling by train
BirminghamNewStreet,SnowHill, andMoorStreettrainstationsare allwithinwalkingdistanceofthe venue.BirminghamNewStreet stationisjusttwominuteswalk away.
Formoredetails,visitthestudio’s directionspagebyclickinghere.
A bit about food
We’veworkedwithaspecialist dieticiantocreateaninclusive menutothebestofourabilityfor allattendees.
Mealswillbelabelledand weighingscaleswillbeprovided. Anyquestionsonthedayplease dograbamemberoftheteam.
Feelingloston theday?
Callthevenue on01216342800 forhelp.
Travelling by Car
Asacitycentrevenue,thereisn’t anyonsiteparking.They recommendthefollowing carparks,eachafiveminutewalk fromthevenue:
BirminghamSnowHillStation CarPark,postcodeB32BJ BirminghamNewStreetStation CarPark,postcodeB24ND.
BirminghamisaCleanAirZone. High-pollutingvehicleswillbe chargedtodriveincertainparts ofthecitycentre,includingthe areathatthethestudioislocated.
Beforeyoutravel,youcancheckif yourvehiclewillbechargedbyvisiting https://www.gov.uk/clean-air-zones
11:1512:15
Getinformationandadviceonaccessingfinancial supportandshareyourneedswithussowecanlearn howtobesthelp.
Genomics&You
Whataregenomics,andhowdotheyfeedinto diagnosisandeventreatment?
TheGenerationStudy
Whatisit,howdoesitlinktonewbornscreening,and whatimpactmayithaveonthefuture?
Q&ASession
AlreadyhavesomeburningquestionsforourGenetics&Genomics speakers?Emailtoni@metabolicsupportuk.organdcatchtheanswers liveontheday. 12:15
HelenMorris
Philandra Costello, TonyThorburn
DrDavidBick
Time Session Speaker 1:302:30
WhoisWhoinIMDs
Who’sactuallyinourcommunity?Andimportantly, whatrolesdotheyallplay?Hearfromourexciting paneldiscussingthedifferentgroupsandroleswithin theIMDcommunity.
2:30 Break 2:45
RealPeople,RealLives
3:15
We’retakingtimetocelebratethecommunity,from theeverydaytotheextraordinary.Whetheryou’re attendingornot,beapartofthecelebrationby clickingheretoshareyourwinwithus
3:153:45 Campaigns&Conversations
Alivelydiscussionaboutourcurrentandupcoming campaigns.Don’tmissyourfirstlookatourLivingWell campaignandthechancetoshareyourthoughts.
3:45
AsessionfortheUreaCycleDisordercommunity,join ourstructuredroundtablediscussionaroundaccess totreatmentsandclinicaltrials.
Speaker Biographies
Dr.DavidBick
PrincipalClinicianfortheNewbornGenomesProgramm atGenomicsEngland
PriortohisworkinEngland,Dr.BickwastheChiefMedicalOfficerandafaculty investigatorattheHudsonAlphaInstituteforBiotechnology. Healsoservedas theMedicalDirectoroftheSmithFamilyClinicforGenomicMedicineat HudsonAlphaandtheLaboratoryDirectoroftheHudsonAlphaClinicalServices Laboratory.
HecametoHudsonAlphafromtheMedicalCollegeofWisconsinwherehewas ProfessorintheDepartmentofPaediatricsandtheDepartmentofObstetrics& GynaecologyandDirectoroftheClinicalSequencingLaboratory,Directorofthe AdvancedGenomicsLaboratory, MedicalDirectoroftheGeneticsClinicat Children’sHospitalofWisconsin,andChiefoftheDivisionofGeneticsinthe DepartmentofPaediatricsatMedicalCollegeofWisconsin.Dr.Bickisboard certifiedinPaediatrics,ClinicalGenetics,andClinicalMolecularGenetics.
HislaboratoriesattheMedicalCollegeofWisconsinandChildren’sHospitalof Wisconsinwerethefirstintheworldtoofferwholegenome sequencingasaclinicaltest.Healsodevelopedthefirst GenomicMedicineClinicintheUnitedStates.
HelenChamberlain
HelenworksasaScientificAdvisorinDataAccessandAnalysisatNICE(National InstituteforHealthandCareExcellence)wheresheprovidesadviceandsupport toensureNICEusesabroadrangeofevidenceinitsguidanceandproducts.
PriortothissheworkedforMacmillanCancerSupportandasaregistered ClinicalScientistinRadiotherapyPhysics.Muchofherworkhasfocusedon improvinguseofdatawithinhealthcare,withaparticularfocusonhealth inequitiesandexaminingpatientoutcomesandexperience.
GenomicsLeadNurseforCentral&SouthGenomics MedicineServiceAlliance(GMSA)
SincebecomingaRegisteredNursein1993,Philandra’scareerhasspanned variouscountriesanddiverseadultspecialties.Theybeganworkingwiththe GMSAinMay2022andhavebeenworkingingenomicssince2011firstasa researchsisterforcancerandrarediseasegeneticsstudiesbeforetakingonthe roleofClinicalNurseSpecialist(CNS)forthe100,000GenomesProject.
Dedicatedtoenhancingpatientexperienceandoutcomeswithgenomics, Philandraispassionateaboutbridgingthegapbetweengenomicsandnursing throughgenomicawarenessandeducation,strivingtoempowerhealthcare professionalswiththeknowledgeandskillsrequiredforpersonalisedand effectivecareinthegenomicsera.
BradDickerson,VicePresidentofProjectManagement&PatientAdvocacyat iECURE,bringsawealthofexperienceinleadingcomplexprojectsincluding multipleproductlaunchesandregulatoryapprovalsforrarediseasetherapies withinthebiotechindustries.
Hiscareerismarkedbyastrongcommitmenttopatientadvocacyandeffective projectmanagement,ensuringthatdevelopmentprocessesalignwithboth regulatorystandardsandcommunityneeds.
Bradhassuccessfullynavigatedtheintricaciesofclinical,manufacturing, regulatoryandcommercialprojecttimelines,fosteringeffectivecommunication andcollaborationacrossallfunctionalteams.
PhilandraCostello
BradDickerson
Speaker Biographies
SonamGurung ClinicalPostdoctoralResearcher atGreatOrmondStreetInstituteofChildHealth
Sonamhasspentfiveyearsofherpostdoctoralcareeratthe ofChildHealthfocusingondevelopingnewtherapiesforIMD themechanismsbehindtheseconditions.
TheyarecurrentlyresearchingmRNAtherapyandlipidnanoparticlesforurea cycledisorders,particularlyargininosuccinicaciduria(ASA).Passionateabout engagingwiththepublicandpeoplelivingwithconditions,incorporatingtheir perspectivesintoherwork,andmakingherresearchmoreaccessible,Sonam isamemberoftheBritishSocietyofGeneandCellTherapy(BSGCT)Patient andPublicEngagement(PPE)sub-committeeandtheNIHRBiomedical ResearchCenter(BRC)PatientandPublicInvolvementan steeringcommittee.Recently,Sonamparticipatedinthe Festival,promotingsciencetostudentsofvariousages.
NaomiLitchfield
BionicalEmasDirector;PatientAdvocacy
Naomihasextensiveexperienceworkinginclinicalresea diseasecommunity.Naomispentmanyyearsworkingat Hospitalasaclinicalresearchnursecaringforpatientsa thoselivingwithmetabolicconditions.Naomiwasinvolve administratingERTandsettinguphomecare.Naomithen whereshemaintainedacloseconnectiontotheraredise shealsoworkedforDuchenneUKadvocacygroup.
AsDirector,PatientAdvocacyatBionicalEmas,Naomi’sroleisfundamentalto thecompanymissionofbringinglifechangingmedicinestopatientsaround theworld.Naomiandherteamfocusonensuringthepatientvoiceisalways represented,creatingapositivepatientjourney,andwherepossiblereducing burdenandcocreatingwithpatientcommunitieswhendesigningClinical TrialsorEarlyAccessPrograms.
ProfessorAhmadMonavari
MBChB,DCH,MRCP(UK),FRCPCH,FFPeadsRCPI ClinicalDirectoroftheNCIMDandCo-founderofISIMD
morethan20yearsexperienceinInheritedMetabolic d,theUnitedKingdom,andCanada.Hehasbeena permanentconsultantinTheNationalCentreforInheritedMetabolicDisorders (NCIMD)formorethan10yearsandistheClinicalDirectoroftheNCIMD.Prof. MonavariisPresidentandco-founderoftheIrishSocietyofInheritedMetabolic Disorders(ISIMD).
Prof.MonavariisinterestedinallInheritedMetabolicDisorders.Hisclinicaland researchinterestsincludeGlutaricAciduria,UreaCycleDefects,andMaple S e(MSUD).
StudentNurseandMACMemberlivingwithMethylmalonic AcidemiaandHomocystinuriacombined(CblCdisorder)
iningtobecomeadualqualifiedadultandchildnurse.Her long-termgoalistospecialiseasaclinicalnursespecialistinmetabolic medicine,hopefullygivingbacktotheincredibleteamwhohavesupportedher throughsometoughtimes.IslawasdiagnosedwithMethylmalonicAcidemia andHomocystinuriacombined(CblCdisorder)prenatallyafterhereldest brothersufferedcomplicationsatanearlyage.
RecentlyjoiningtheMetabolicAdvisoryCouncilprovidesIslawiththeplatform touseherexperiencestoadvocateforbettersupport,raiseawareness,drive researchandtohelpensurethatthevoicesofthoseaffectedbyIMDsare heardandprioritised.
Speaker Biographies
DrReenaSharmaisaconsultantintheadultinheritedmetab MarkHollandMetabolicUnit,SalfordRoyalHospital,Salfordin Manchester.Shejoinedtheconsultantpostafterbeingtraine region.AsapartofReena’sroleshecaresforadultswithvariousmetabolic diseasesandsupportstheirfamilies.Sheisactivelyinvolvedinresearchlooking intonewtherapiesforsomeoftheseverychallengingrarediseases.
ReenawasdelightedtojoinMetabolicSupportUKasatrustee,hopingtoprovide theirknowledgeandexpertisetosupportthecharitytoachieveit’sgoals
TonyThorburn
ChairofBehçet'sUKandAllianceNetworkChair(PPI/PPV),
After35-yearsintheArmedForcesand10-yearsasalectu EngineeringatCranfieldUniversity,whereheremainsaVisitingFellow,Tony nowworksinthecharitysectorrepresentingthoseinthecomplexarenaofrare diseases;asbothChairofBehçet'sUKandAllianceNetworkChair(PPI/PPV), CentralandSouthGenomicMedicineServiceAlliance.HeisanAssociate MemberoftheRoyalSocietyofMedicineandBritishSocietyforRheumatology, amemberofBSIIST/015Softwareandsystemsengineeringcommittee,the MOD-IndustryHFILiaisonGroup,aSTEMAmbassadorandAPMSystemsThinking SIG.AFellowofCharteredManagementInstituteandInstituteofLeadership.
Tonyattributeshisendeavoursandsuccessessolelytothesupportand encouragementhereceivedfromhislatewife,Kathy,whowaswithTonyfor50yearsanddiedunexpectedlyofcancerinJuly2023,97-daysafterinitial diagnosis.Nevercomplainedonce,smiledherwholewaythroughthe considerablechallengeandwasmoreconcernedaboutthoselookingafterher.
Crafts and Colouring
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