Genomic Expert Curation Panels for Pediatric Malignancies
儿科恶性肿瘤基因组专家管理小组
基本信息
- 批准号:10708799
- 负责人:
- 金额:$ 28.32万
- 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:2022-09-22 至 2025-08-31
- 项目状态:未结题
- 来源:
- 关键词:ABL1 geneAddressAdoptedAffectAllelesAmerican Society of Clinical OncologyAreaB-Cell Acute Lymphoblastic LeukemiaBenignBirthCancer EtiologyCatalogsChildChildhoodClassificationClinVarClinicalCollaborationsDNA Sequence AlterationDataDatabasesDevelopmentDiagnosisDiseaseEnvironmentEventFundingGenesGeneticGenetic DatabasesGenomeGenomicsGoalsGrantGuidelinesHuman GeneticsInformaticsInheritedKnowledgeLaboratoriesLinkLos AngelesLymphoblastic LeukemiaMalignant Childhood NeoplasmMalignant NeoplasmsMeasuresMolecularMolecular ProfilingMutationNational Institute of Child Health and Human DevelopmentPathway interactionsPediatric HospitalsPediatric NeoplasmPhenotypePhiladelphiaPoliciesPopulationPrediction of Response to TherapyProceduresProcessProcess AssessmentProfessional OrganizationsPrognosisPublicationsRegistriesReproducibilityResearch PersonnelResourcesSomatic MutationTestingTranslatingUnited States National Institutes of HealthUniversitiesVariantWashingtonaccurate diagnosisactionable mutationadjudicationanticancer researchcancer diagnosisclinical applicationclinical decision-makingclinically actionableclinically relevantclinically significantcrowdsourcingdata curationdata exchangedata hubdata standardsexperiencegenetic counselorgenetic variantgenome-widegenomic datainformation displayknowledgebasenovelnovel strategiesprecision oncologyrepositoryresponsetreatment responsetumoruser-friendlyworking groupyoung adult
项目摘要
Project Summary/Abstract
The goal of this proposal is to develop expert panels focused on curating evidence for the clinical application of
somatic mutations associated with childhood cancers. Tumors in the pediatric population have unique genetic
profiles that can affect their diagnosis, prognosis and treatment. There is currently a gap in representation
of somatic variants for childhood tumors in public cancer databases and knowledgebases. New
approaches for evidence curation are needed to identify important mutations in childhood cancers for both
diagnosis and therapy response. To address these gaps, our application builds on two prominent
developments in the field led by our team. First, as the ClinGen Somatic Clinical Domain Working Group
(CDWG) we developed the Minimal Variant Level Data (MVLD) standard to promote sharing and use of gene
variants in precision oncology. Second, we developed the Clinical Interpretation of Variants in Cancer (CIViC)
expert crowdsourced platform for somatic curation and clinical interpretation. Our goals are to: (1)
systematically catalog the clinical relevance of common, rare, and novel variants identified through
gene-specific and genome-scale testing in childhood cancers; (2) partner with ClinGen, ClinVar,
guideline-setting professional organizations, and other relevant global efforts to translate and present the
knowledge derived from genome researchers and clinical laboratories; and (3) develop informatics support for
variant assessment of clinical actionability, information display, interfacing with relevant databases, and
dissemination. To accomplish these goals we developed a collaboration over the past three years through the
ClinGen Somatic CDWG among researchers at Washington University, Georgetown University, and Children’s
Hospital Los Angeles that includes clinical and molecular geneticists, genetic counselors, bioinformaticians,
and genomic database experts to advance the use of genomic data in childhood cancers. Specifically, we will
establish pilot variant curation expert panels (VCEPs) to assess clinical relevance and actionability of somatic
variants in pediatric cancers. Our initial focus will be on two disease areas, with timely relevance, pediatric
malignancies with NTRK fusions and BCR-ABL1 (Philadelphia)-like B-lymphoblastic leukemia (Ph-like B-ALL).
We will adopt ClinGen’s existing VCEP policies and processes for assessing variants of strong clinical
significance, potential clinical significance, unknown clinical significance, and benign or likely benign variants in
childhood cancers. We will adapt and enhance the CIViC platform to support these expert panels. The CIViC
platform will also provide the curated evidence in standard formats for exchange of data with ClinVar and
ClinGen resources. Finally, we will seek FDA recognition for the evidence repository developed and curated
through this grant.
项目总结/文摘
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)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
Malachi Griffith其他文献
Malachi Griffith的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('Malachi Griffith', 18)}}的其他基金
Creation of a knowledgebase of high quality assertions of the clinical actionability of somatic variants in cancer
创建癌症体细胞变异临床可行性的高质量断言知识库
- 批准号:
10555024 - 财政年份:2023
- 资助金额:
$ 28.32万 - 项目类别:
Genomic Expert Curation Panels for Pediatric Malignancies
儿科恶性肿瘤基因组专家管理小组
- 批准号:
10413420 - 财政年份:2022
- 资助金额:
$ 28.32万 - 项目类别:
Informatics tools for identification, prioritization and clinical application of neoantigens
用于新抗原识别、优先排序和临床应用的信息学工具
- 批准号:
10219995 - 财政年份:2020
- 资助金额:
$ 28.32万 - 项目类别:
Informatics tools for identification, prioritization and clinical application of neoantigens
用于新抗原识别、优先排序和临床应用的信息学工具
- 批准号:
10473522 - 财政年份:2020
- 资助金额:
$ 28.32万 - 项目类别:
Informatics tools for identification, prioritization and clinical application of neoantigens
用于新抗原识别、优先排序和临床应用的信息学工具
- 批准号:
10460031 - 财政年份:2020
- 资助金额:
$ 28.32万 - 项目类别:
Integrated Analysis & Interpretation of Whole Genome Exome & Transcriptome Sequen
综合分析
- 批准号:
9443700 - 财政年份:2017
- 资助金额:
$ 28.32万 - 项目类别:
INTEGRATED ANALYSIS & INTERPRETATION OF WHOLE GENOME, EXOME & TRANSCRIPTOME SEQUENCE DATA IN CANCER
综合分析
- 批准号:
9061766 - 财政年份:2015
- 资助金额:
$ 28.32万 - 项目类别:
相似海外基金
Rational design of rapidly translatable, highly antigenic and novel recombinant immunogens to address deficiencies of current snakebite treatments
合理设计可快速翻译、高抗原性和新型重组免疫原,以解决当前蛇咬伤治疗的缺陷
- 批准号:
MR/S03398X/2 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Fellowship
Re-thinking drug nanocrystals as highly loaded vectors to address key unmet therapeutic challenges
重新思考药物纳米晶体作为高负载载体以解决关键的未满足的治疗挑战
- 批准号:
EP/Y001486/1 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Research Grant
CAREER: FEAST (Food Ecosystems And circularity for Sustainable Transformation) framework to address Hidden Hunger
职业:FEAST(食品生态系统和可持续转型循环)框架解决隐性饥饿
- 批准号:
2338423 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Continuing Grant
Metrology to address ion suppression in multimodal mass spectrometry imaging with application in oncology
计量学解决多模态质谱成像中的离子抑制问题及其在肿瘤学中的应用
- 批准号:
MR/X03657X/1 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Fellowship
CRII: SHF: A Novel Address Translation Architecture for Virtualized Clouds
CRII:SHF:一种用于虚拟化云的新型地址转换架构
- 批准号:
2348066 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Standard Grant
The Abundance Project: Enhancing Cultural & Green Inclusion in Social Prescribing in Southwest London to Address Ethnic Inequalities in Mental Health
丰富项目:增强文化
- 批准号:
AH/Z505481/1 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Research Grant
ERAMET - Ecosystem for rapid adoption of modelling and simulation METhods to address regulatory needs in the development of orphan and paediatric medicines
ERAMET - 快速采用建模和模拟方法的生态系统,以满足孤儿药和儿科药物开发中的监管需求
- 批准号:
10107647 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
EU-Funded
BIORETS: Convergence Research Experiences for Teachers in Synthetic and Systems Biology to Address Challenges in Food, Health, Energy, and Environment
BIORETS:合成和系统生物学教师的融合研究经验,以应对食品、健康、能源和环境方面的挑战
- 批准号:
2341402 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Standard Grant
Ecosystem for rapid adoption of modelling and simulation METhods to address regulatory needs in the development of orphan and paediatric medicines
快速采用建模和模拟方法的生态系统,以满足孤儿药和儿科药物开发中的监管需求
- 批准号:
10106221 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
EU-Funded
Recite: Building Research by Communities to Address Inequities through Expression
背诵:社区开展研究,通过表达解决不平等问题
- 批准号:
AH/Z505341/1 - 财政年份:2024
- 资助金额:
$ 28.32万 - 项目类别:
Research Grant