Novel gene discovery in disorders of the liver and biliary tree
肝脏和胆管系统疾病的新基因发现
基本信息
- 批准号:10370717
- 负责人:
- 金额:$ 16.53万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2022
- 资助国家:美国
- 起止时间:2022-01-19 至 2026-11-30
- 项目状态:未结题
- 来源:
- 关键词:Acute Liver FailureAdultAdvisory CommitteesAnimal ModelApplications GrantsAutoimmuneAwardBiliaryBiliary AtresiaBiological AssayCandidate Disease GeneCell LineCell modelChildChild CareChildhoodCholestasisClinicalClinical ResearchClustered Regularly Interspaced Short Palindromic RepeatsCodeComplexComputerized Medical RecordCopy Number PolymorphismDataDefectDevelopmentDiagnosisDiseaseEthylnitrosoureaEtiologyFacultyFellowshipFibrosisFiltrationFunctional disorderFutureGastroenterologyGene ExpressionGenesGeneticGenetic TranscriptionGenomicsGoalsGrantHardikar syndromeHepaticHepatobiliaryHepatologyHuman GeneticsImmunofluorescence ImmunologicIndividualIntellectual functioning disabilityIntestinesK-Series Research Career ProgramsLaboratoriesLeadLearningLifeLiteratureLiverLiver DysfunctionLiver diseasesMediator of activation proteinMedical GeneticsMedicineMentorsMessenger RNAMetabolicMicroscopyModelingMorbidity - disease rateMorphologyMutationNotch Signaling PathwayPaperPathogenesisPathogenicityPathway interactionsPatientsPatternPediatric HospitalsPediatricsPennsylvaniaPhenotypePhiladelphiaPhysiciansPopulationPostdoctoral FellowProteinsRNA Polymerase IIReagentRecording of previous eventsReportingResearchResearch ProposalsResidenciesResourcesRetinal DiseasesRoleRunningScientistSignal TransductionStandardizationStructureSyndromeTGFB1 geneTestingTrainingUniversitiesValidationVariantWorkWritingX-linked intellectual disabilityZebrafishbeta cateninbiliary tractcareercareer developmentcholangiocytecleft lip and palateclinical diagnosiscohortcongenital hepatic fibrosisdesignexomeexome sequencingexperienceexperimental studygene discoverygenetic disorder diagnosisgenetic testinggenetic variantimprovedmalformationmortalitymutantneurogeneticsnotch proteinnovelnovel therapeutic interventionnovel therapeuticspediatric patientsprofessortranscription factorurinary tract obstruction
项目摘要
This career development award details a 5-year training plan to facilitate transition to an independent career as
a hepatogeneticist focused on gene discovery and characterization for hepatobiliary disease. I completed my
Pediatrics residency at St. Christopher’s Hospital for Children and my fellowship in Human Genetics at The
Children’s Hospital of Philadelphia (CHOP). I am currently an attending physician and research fellow at CHOP
in the Division Of Human Genetics. My clinical and research efforts focus on children with hepatobiliary disease.
My goals for this proposal are to become more experienced with exome and genetic variant interpretation and
to gain experience using zebrafish as a model to study hepatobiliary disease. I will also use this opportunity to
develop my ability to design experiments, write successful grant applications, and lead a laboratory, to facilitate
a smooth transition to academic faculty.
My mentor for this proposal is Dr. Hakon Hakonarson, a Professor of Pediatrics and director of the Center for
Applied Genomics (CAG) at CHOP. Dr. Hakonarson has mentored dozens of post-doctoral research fellows and
K-awardees, and was the recipient of CHOP’s Research Mentor Award. I will be co-mentored by Dr. Michael
Pack, a Professor of Medicine at the University of Pennsylvania (UPenn). Dr. Pack also has an extensive history
of mentoring trainees and K-awardees and works closely with Dr. Hakonarson on novel gene characterization. I
have also assembled a scientific advisory committee, consisting of Drs. Klaus Kaestner, Ben Stanger, Kirk
Wangensteen, Tom Jongens, and Elizabeth Rand, all experts in the fields of hepatology, neurogenetics or
genetics with extensive mentoring experience. I will also have the benefit of the outstanding resources at both
CHOP and UPenn, which have facilitated career development for countless past trainees.
My proposed research focusses on the discovery and characterization of novel genes implicated in hepatobiliary
disease. We are assembling a cohort of individuals with unexplained hepatobiliary disease, and will apply a
research pipeline to facilitate identification of novel genes. Our laboratory has already identified de novo
nonsense and frameshift variants in MED12 as causal for Hardikar Syndrome, a syndromic form of biliary
dysgenesis, of previously unknown genetic basis. Aim 1 of this proposal delineates how a patient cohort will be
assembled and characterized, and Aim 2 details the characterization of the role of MED12 in biliary development.
Completion of the proposed studies will improve our ability to genetically diagnose hepatobiliary disease, better
characterize the genetic landscape of these poorly-understood conditions, and elucidate the mechanism by
which nonsense and frameshift MED12 variants cause biliary disease. This proposal will also provide me with
experience studying hepatobiliary disease in animal and cellular models, writing grants and scientific papers,
and allow me to observe how academic laboratories are run. Furthermore, this patient cohort and the cellular
and animal models developed as part of this proposal will be invaluable in my future career.
这个职业发展奖励详细说明了一个5年的培训计划,以促进过渡到独立的职业生涯
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Alanna Strong其他文献
Alanna Strong的其他文献
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{{ truncateString('Alanna Strong', 18)}}的其他基金
Novel gene discovery in disorders of the liver and biliary tree
肝脏和胆管系统疾病的新基因发现
- 批准号:
10552553 - 财政年份:2022
- 资助金额:
$ 16.53万 - 项目类别:
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