Alberta Children's Hospital Research Institute Magazine
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Transcript of Alberta Children's Hospital Research Institute Magazine
FOR CHILD AND MATERNAL HEALTHR E S E A R C H I N S T I T U T E
Spotlighton Research2013 Publication
The Alberta Children’s Hospital Research Institute for Child and Maternal Health was established three short years ago. Since its creation, the Institute has grown in many ways to be a pillar for child health research in Alberta. TheInstituteprovidesafocusfortheresearchofmanyleadingscientistswhohavecometoCalgaryto do research in the fields of infant epilepsy,childhoodcancer,vaccinedevelopment,gastro-intestinalconditions,brainandfetaldevelopmentandmaternaldepression–tonameafew. TheInstituteiscommittedtomakingscientificbreakthroughsareality. Thiscommitmentledtotheestablishmentofagenomic sequencing facility. This facility allowspatients’genetic information tobeunderstoodin ways that will improve their chances of earlydiagnosis,treatmentandrecovery. TheInstitutehasalsoestablishedapediatricbrain injury research program equipped withelectrophysiologymicroscopesanda3TpediatricMRI to carry out research. The sophisticatedimagingscanner,whichisinuseattheAlbertaChildren’sHospital,istheonlyoneofitskindinwesternCanada. ACHRI’s research touches on many areas –the causes of childhood obesity, improving the
emergency care of children and preventingchildhoodinjury. OurhomeistheresearchlabsattheFoothillsCampus,UniversityofCalgary,andintheclinicalresearchfacilitiesattheuniversityandtheAlbertaChildren’sHospital. Our success reflects thehardworkandcom-mitmentofmanypeople.Iamdeeplygratefultothemanygenerousdonorswhocontributetotheworkhereat the Institute. I look forward toanexciting upcoming year and invite you to learnmoreabouttheInstituteonourwebsite.
Brent ScottHuskyEnergyChairinChildandMaternalHealthExecutiveDirector,Alberta Children’s Hospital Research
Institute for Child and Maternal Health
Alberta Children’s Hospital Research Institute
Welcome to our Institute’s magazine.
Le t ter from the Director
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onlinEresearch4kids.ucalgary.ca
acHRi PaRtnERS
F O U N D A T I O N
cREDitSe D i t or
Laura Herperger Communications Coordinator
c o n tac t in f or m at io n
EmaiL [email protected] 403.210.3951cELL 403.919.3816
alberta children’s Hospital Research instituteRm 287, Second floor HmRB3330 Hospital Drive NWcalgary, aB T2N 4N1
c ov e r P ho t o
Bruce Perrault
o n t he c ov e r
matthew Newton, Grade 6, University Elementary School
t h a n k you
Elboya Elementary and Junior Highfor student art work: Tanya isyp, Hana Gair and annah Saleem
De s iG n
cOmBiNE Design & communications
Brentscott,MD.
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research4kids.ucalgary.ca
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ePiLePsy
ammy Mayer recalls the day last october when her five-month-old son,
clinton, had his first seizure. “ItwasaFriday,hewasplaying,andsuddenlyhis arms stretched outward and he lost focusinhiseyes,”sheremembers. Mayerknewimmediatelythatsomethingwasn’tright. Infantsmakesomanyodd faces,but thiswasdifferent. “Iknewrightawaythiswasnotmyson’snormalactions,”shesays.”Hewasnothappy,sowetookhimtoseeadoctor.” Afterseveralmedicalappointments,theMayerfamilywassenttotheAlbertaChildren’sHospitaltovisitDr.MorrisScantlebury. Scantlebury is a pediatric neurologist and aresearcher at the Alberta Children’s HospitalResearchInstitute.Heworkswithchildrenwhohaveinfantilespasms,orWestSyndrome−araretypeofepilepsythatischallengingtotreat. “IthinkitismytoughestdaywhenIhavetotellafamilythisdiagnosis,”Scantleburysays. “IjustfeltlikeIwaslosinghim”,saysMayerabout her son, “It was the scariest thing thatwe’veeverbeenthrough.” West Syndrome affects approximately two inevery10,000childrenandthecauseiscomplexandthoughttobeinfluencedbymultiplefactors.Medicalpractitionersusuallyfirstobserveinfantilespasms at about three to six months. InfantsarereferredforEEGtestingandaMRItoconfirmthe condition and then require medical treat-menttopreventpotentialcognitiveimpairmentandregression. Baby Clinton was prescribed intense ACTHhormone injections for a period of six weeks.Theinjectionscanreducethespasmsandimprovethecondition.ThetreatmentwassuccessfulforClinton. He is now active again−smiling andplaying.Butnotallchildrenareaslucky.Asmanyas one-third of children with this condition areunresponsivetotreatment. “The fact that there are not many optionsfor treatment is frustrating,” says Scantlebury.
“Thisconditionhasbeenchronicledinmedicalliteraturefor150years,andyetsciencehasnotmovedmuchfurtherahead.” Knowing the challenges presented byinfantile spasms,Scantlebury is hoping hisresearchwillleadtomoreeffectivetreatments. In2006,Scantleburydevelopedoneofthefirst successful models for studying infantilespasms while working at the Albert EinsteinCollegeofMedicine inNewYork.AndnowScantlebury is readytousethosemodels inhis lab at the Alberta Children’s HospitalResearchInstitute. Thatresearchgiveshopetofamilies. “AllIknowisthatonedayIhadabeautiful,healthy baby, and the next, all that changed,”Mayersays. TheMayerfamilywillcontinuetotakebabyClinton into the Alberta Children’s Hospitalto monitor his progress. For now, they arecautiouslyoptimisticabouttheongoingtreat-mentsfortheirson.
Help for babies with seizures
“ ”i just felt like
i was losing him. it was the scariest thing that we’ve
ever been through.
t
clint&taMMyMayer,anDtheir7MontholDson,clinton
MorrisscantleBury,MD
3
multi-million dollar Pediatric Simulation centre is taking shape on the fourth
floor of the alberta children’s Hospital. Watching the physical transformation fromconstructionsitetoahightechcentreisDr.VincentGrant,medical director of theKidSIMprogram.“Whileitdoesn’tlooklikemuchrightnow,it isgoingtobeanamazingspaceinafewmonths,”Grantsays. Patientsimulationtraininginvolvescomputerizedmannequinsthatcanimitateemergencyscenariossuchasheartattacks, life-threating injuriesandlossofconsciousness.Thecomputerizedmanne-quinscancostasmuchas$75,000each. Right now, construction workers are busyinstallingcablesandwallsforthenewsimulationlabs.Inafewmonths,thedoorswillopentooneofthefewcentresofitskindinCanada.
GrantgraduatedfrommedicalschoolattheUniversityofCalgaryandcontinuedhiscareerinpedi-atrics and pediatric emergencymedicineattheChildren’sHospi-talofEasternOntario. In2005,heheardthattheAlbertaChildren’sHospitalwasinterestedindevel-opinga simulation-basedtrainingprogram.Itwasenough forhimtopackhisbagsandheadbacktohishometown. Onarriving,Grantassembledateamofbiomedicaltechnicians,respiratory therapists, nursesanddoctorstostartputtingintoplace the necessary blocks.It started with just one high-tech mannequin and a smallteaching room in the basementof the former Alberta Children’sHospital. In thatfirstyear,onlya few hundred people weretrained. The program now has75 educators and teaches 3–thousandcliniciansayear.
“Wearedefinitelyimprovingthehealthofchildrenwithbettertrainedandmoreadequatelypreparedclinicians,”Grantsays. “I can give several concrete examples ofsituations where something we practiced on insimulationlaterendeduppresentingtotheemer-gencywithexactly thesameconditionas in thesimulation.Ouremergencyteamstellusthattheycommunicated better and responded quicker,”Grantadds. Today, theAlbertaChildren’sHospital is inter-nationally-recognized for pediatric simulationexpertise.Infact,morethantwentypercentoftheworkshop presentations at the 5th InternationalPediatricSimulationSymposiaandWorkshopsinNewYorkCityarebeingledbyGrantandhisteam. Given this program’s outstanding success,Alberta Health Services made the decision to
KidSIM Dream Comes True
simuL at ion tr aininG
a
Alberta Children’s Hospital Research Institute
K iDsiMlaBwithtwohelpers:JennychatfielD,eDucator&DanDuperran,technicalconsultant
VincentGrant,MD
createthenewcentre,about370squaremetres,dedicated to pediatric simulation training andresearch. This new Alberta Children’s Hospitalcentreisbeingoutfittedwithcameras,recorders,and video simulation software toassist in bothfeedbackfortheparticipantsandon-goingresearchwithinternationalcollaboration. Grant acknowledges the generosity of theAlbertaChildren’sHospitalFoundationwhichhasprovided millions of dollars in donations for thecentreandtheKidSIMprogram. “I’m a tremendously proud member of anincredibleteam.Theteamsawtheadvantageandbenefitsofthistypeofeducationandtheneedfor
thiscentretoallowustogrowintothefutureasoneofthepremieresimulationtrainingfacilitiesintheworld.It’sreallybeenaninspirationtobeapart of its growth here at the Alberta Children’sHospital,”hesaid. So as Grant stands in the centre, amidstthecablesanddust,heknowshe’sstandinginagoodplace,aplacehe’sbeenenvisioningforaverylongtime.
Office 1
Office 2
Office 3
Debriefing 1
Debriefing 2
Accordian Wall
Simulation Room 1
Simulation Room 2
Reception/ Admitting
WaitingSimulation Room 3
Simulation Room 4
Mechanical
Storage
Coffee Rm.
Control Room 4
Control Room 3
Kids Simulation Floor Plan
“ ”We are definitely improving the health of children with better trained and more
adequately prepared clinicians.
a LeGacy of Giv inG
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he alberta children’s Hospital Foundation has sup-ported research at the alberta children’s Hospital
and the university of calgary for more than thirty years. Without the Foundation’s support, much of the work atthe Institutecouldnotproceed. Thispast year, theFoundationprovidedover$10millionforchildandmaternalhealthresearch,including support for eight chairs, five professorships andeighteenresearchawards. TheFoundationisalsoinvestinginACHRI’sresearchplatforms,includingexperimentalandapplied therapeutics, genomicsandinformaticsandadvancedimaging. “We are so grateful to our donors for recognizing that newcures and better treatments start with research,” says SaifaKoonar, president and CEO of the Alberta Children’s HospitalFoundation.“Theirgenerousinvestmentshaveandwillcontinuetomakepossibleimportantadvancementsinchildhealth.” “ACHRIwouldnotexistwithouttheAlbertaChildren’sHospitalFoundationandthedonorswhosupportitsworkinthecommunity,”saysDr.BrentScott,executivedirectorofACHRI.“Acreativeandstrongresearchcommunity is fundamental toACHRI’ssuccessinimprovingthehealthofCalgarychildren.But an equal partner is the people ofCalgary who make ACHRI’s work possiblewithdonations,bothlargeandsmall.” Thistypeofcommunityengagedschol-arship exemplifies the long term benefitsgained by a close working relationshipamongcommunities,researchersandcaregivers.Weallunderstandthatenablingthecreationofnewknowledgetodayleadstoimprovementsinhealthcaretomorrow.
“ ”We are so grateful to our donors for recognizing that
new cures and better treatments start with research.
research4kids.ucalgary.ca
KIDSIMCENTRERENDERING, MEASURING361.25SqM
t
The Alberta Children’s Hospital Foundation committed to research
lizabeth Digby won’t forget the day: Friday, September 21at 5:18 p.m.
That’sthemomentsherealizedshehaddis-coveredanewgenemutation.Sheimmediatelysentane-mailtohersupervisoraboutthefindings. “There’snodoubtabout it, Iwas lucky,”the25-year-oldstudentsays. Digby had found a mutation in a gene thatcauses neutropenia, a blood disorder leadingtoalowwhitecellcount.ThegeneisidentifiedasG6PC3.Thefindwasincre-dible.Notonlybecausethepatient was the UniversityofCalgary’sfirstrecipientofentire genome sequencingat the Alberta Children’sHospitalResearchInstitute,but also because Digby isstillastudent.She’sinhersecond year of medicalschool at the UniversityofCalgary. Aspartofaspecializedclass,DigbywasworkingintheAlbertaChildren’sHospitalgeneticresearchlab under the supervision of senior researchersincludingDr.MicheilInnesandDr.JillianParboos-ingh.Daysafterstartinginthelab,shediscoveredthemutation.SheisgratefultohermentorsandtotheACHRI ledgenomicsand informaticsplat-formthatfacilitatedthescreeningofthehundredsofthousandsofgenevariants. Theyoungstudentisreflective.“Noone,includingmyself,expectedtofindtheanswersoquickly,”Digbysays. “Shesolvedthismysteryaroundneutropeniaand helped this individual understand hisdisorder,” says Dr. Francois Bernier, the headoftheDepartmentofMedicalGenetics. Bernier isoneofthemembersat theAlbertaChildren’s Hospital Research Institute who isproviding the leadership in the genetic researchsequencing facility. It’s equipped with threeadvancedDNAsequencersincludingapersonalizedgenomemachine(PGM)whichallowsresearchers
to confirm abnormalities in four hours. Bernierand his team have already fully and partiallysequencedatleasttwodozenpatients. “Sequencing is so important because it isallowingdoctorstoenterthestageofpersonalizedmedicine, which is aiming specific treatmentsforspecificindividuals,”Berniersays. Aswellasthelatestequipment,ACHRIisalsobuildingateamofresearchersinbioinformaticsandgeneticsandhasestablishedaTranslational
Health Chair in Personal-ized Genomics to provideexpertiseandcollaboration.Dr. Brent Scott, executivedirectoroftheAlbertaChild-ren’s Hospital ResearchInstitute, is excited aboutthepossibilities. “The combination ofcuttingedgegenetictech-nologyandtheopportunity
to recruit excellent clinical investigators andscientistsisallowingtheAlbertaChildren’sHospitalResearch Institute and the Alberta Children’sHospitaltounlockthegeneticbasisofdiseaseand improve the lives of children in Alberta,”saysScott. AsforElizabethDigby,thefacilityhasallowedhertomakethediscoveryofalifetimeinherstudentyears.“Iamverygratefulforthisopportunity,”shesays.“Ithasreallyopenedmyeyes.”
Student cracks patient case
Gene Discovery
e
Alberta Children’s Hospital Research Institute
5
“ ”sequencing is so important
because it is allowing doctors to enter the stage of
personalized medicine. ElIzABETHDIGBY, UOFCMEDICAlSTUDENT
DR.FRANCOISBERNIER,HEADOF MEDICAlGENETICSDEPARTMENT
unDerstanDinG the br ain
6
s a neurologist, Dr. Jong Rho knows a lot about the brain and disorders
that affect it. Butthefirstthinghewouldadmitisthatthebrainremainsamysteryatamolecularandgeneticlevel.Rhowantstochangethat. “Understandingthebrainatthemolecularlevelwillallowustobetterunderstandhowbesttointer-veneandtreatchildhoodconditionsandcommondisorderssuchasconcussion,autismandepilepsy,”Rhosays. Rho isaYalegraduateandapost-graduatefromUClAandtheNationalInstitutesofHealthinBethesda,Maryland.Hehelpedestablishepilepsyand neurosciences programs at the childrens’hospitalsinSeattleandPhoenix.Inaddition,he’sbeenaconsultingpediatricneurologistatmanymajorhospitalsthroughoutCalifornia. HearrivedattheAlbertaChildren’sHospitalin2010.Intwoshortyears,he’sestablishedoneofthe largest and most comprehensive pediatricbraininjuryresearchlabsinCanada. WiththehelpoftheAlbertaChildren’sHospitalResearchInstitute,adozenresearchersandlead-ingscientists fromvarieddisciplineshavebeenbrought under one roof. They’re asking basicquestionsabouthowtheone-hundredbillioncellsinthebrainworkandhow,attimestheydon’t. In the brain research labs, scientists useroboticmicroscopes toexamine livingneurons.Theirhigh-techcamerasandmicronsizedneedlespinpoint and record in real time the electricsignals inbrain cellsandgiveadetailedpictureofhowmitochondria, the tinyenergyproducingfactoriesineachcell,supportneuronalfunction.Specializedequipmentmeasureshowmuchoxygeneachcellormitochondrionisusing–akeytounder-standinghowdamagedneuroncellscompensateorexpire. Butlookingatindividualcellsisjustthebeginning. AsRhopointsout,oncescientistsknowmoreabouthowhealthyneuroncellsdifferfromunhealthycells,theycanmovetothenextstep. Inotherlabs,scientistsareusingzebrafishas
ananimalmodel to advanceexperimental thera-peutics.zebra fisharehighlyefficientmodelsto study molecular mechanisms and targets,especiallyfordrugdevelopment. “Thesecreaturesareincreasinglybeingusedtoscreenfornoveldrugs,andthisapproachholdsthepotentialforsuccessfullyidentifyingcandidatedrugswithinafewyears,incontrasttotheusual10-20years,”Rhosays. But thepicturewouldn’tbecompletewithoutmore immediate impact to children at the bed-side.TheAlbertaChildren’sHospitalhasacquirednearinfraredspectroscopyforitsnewconcussioncentre.Itistheonlychildren’shospitalinCanadatousethistechnologytoanalyzebloodflowandoxygentothebrainofchildrenwhohavehadheadinjuries.Andtheequipmentandexpertswhoana-lyze thedatabelieve itwillhelp inmakingkidsbetter,sooner. Rhoandhiscolleaguesarededicatedtothinkingaboutwhatmorecanbelearnedaboutthissmallwonder called the brain. With more scientistsarrivingandmoreresearchplanned,Calgarywillassumeanimportantroleasaninternationalhubforpediatricbrainresearch.
Building brain health research
“ ”these creatures are increasingly
being used to screen for novel drugs.
a
research4kids.ucalgary.ca
richelleMychasiuK,phD,postDoctoralfellow cezarGaViloVici,phD, postDoctoralfellow
JonGrho,MD,Dr.roBerthaslaM chairinchilDneuroloGy
achrisuccesses
Alberta Children’s Hospital Research Institute research4kids.ucalgary.ca
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One of the largest bench to bedside pediatric brain injury research programs in Canada
Over $20 million in external funding secured by full members in 2012
first whole genome of patient sequenced, march 2012
contribute to acHRi’s success by visiting research4kids.ucalgary.ca
new pediatric research 3t MRi operational over 6,000
mothers and infants participate in one of the largest longitudinal studies on maternal health & child development in canada
ACHRI Successes
Thanks to students at Elboya School
MOlECUlARGENETICS,ANNAHSAlEEM,GRADE8 HEAlTHYl IVING,TANYAISYP,GRADE8 DEVElOPINGBRAIN,HANAGAIR,GRADE9