Genomic Diagnosis in Children with Developmental Delay
发育迟缓儿童的基因组诊断
基本信息
- 批准号:8517294
- 负责人:
- 金额:$ 192.15万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2013
- 资助国家:美国
- 起止时间:2013-06-14 至 2017-05-31
- 项目状态:已结题
- 来源:
- 关键词:AddressAffectAlabamaBenefits and RisksBioethicsBiological AssayCharacteristicsChildChildhoodClinicClinicalCodeCollaborationsCommunitiesComplexCongenital AbnormalityConsentCounselingCytogeneticsDNA SequenceDataDecision MakingDevelopmental Delay DisordersDiagnosisDiagnosticDiseaseEconomic BurdenEducationEducational MaterialsEffectivenessEnrollmentEthicsEventFamilyFamily PlanningFutureGenesGeneticGenetic screening methodGenomeGenomicsGenotypeGoalsGroupingHealthHuman GeneticsIncidental FindingsIndividualInheritedInstitutesInstructionIntellectual functioning disabilityInterventionInterviewLeadLicensingLifeMedicalMedicineMutationOnline SystemsOutcomeParentsPatientsPerceptionPersonal SatisfactionPhenotypePoint MutationPopulationProfessional counselorProteinsPublic HealthQuestionnairesRecording of previous eventsRecruitment ActivityResearch DesignResearch PersonnelSelf PerceptionSocietiesStagingTechniquesTechnologyTestingTherapeuticUniversitiesVariantVisitbasecare burdenclinical carecost effectiveearly onsetethical legal social implicationexome sequencingexpectationexperiencefollow-upgenetic variantimprovedinnovationinterestmeetingsnovel strategiesoutreachpreventprobandpublic health relevancereproductive
项目摘要
DESCRIPTION (provided by applicant): The goal of this UMI proposal is to address the technological, analytical, and ethical challenges that prevent the optimal use of DNA sequencing to improve treatment of diseases and life planning for patients and their families. High-throughput DNA sequencing will be applied to meet the major diagnostic needs of children with developmental delay, intellectual disability, and related health problems ("DD/ID"). DD/ID disorders inflict life-long suffering for affected children and their families, and are a major heath care and economic burden to society. They are generally highly likely driven by one or a few highly penetrant, often de novo, mutations in any given family, but most children cannot be accurately diagnosed, making treatment and family counseling difficult. Indeed, many affected families undergo a "diagnostic odyssey", involving years of testing and doctor visits without a specific diagnosis. This proposal builds collaboration between genomics researchers at the Hudson Alpha Institute, local medical geneticists affiliated with the University of Alabama at Birmingham, and investigators at the University of Louisville interested in the ethical, legal, and
social consequences of genetic information in the clinic. 600 children with DD/ID and their parents will be enrolled, consented, and questioned about their medical experiences and expectations about genetic information. 500 of these children and their parents will be subjected to a 2-stage sequencing plan: 1) "whole exome sequencing" and 2) "CNV sequencing". The former is a cost-effective strategy for identifying relevant variants, particularl for the early onset, severe, and often de novo phenotypes of DD/ID. The latter is a novel strategy with great potential to identify relevant regulatory mutations, which are ignored in typical clinical sequencing strategies. Medically relevant variants, either causal for DD/ID or incidental but predictive for other diseases, will be returned to the family by a medical geneticis and genetics counselor. Follow-up questionnaires and interviews will be used to determine the impact of the returned genomic information on clinical care, family planning, and other aspects of self-perception and well-being that may be altered as a result of the genetic diagnosis and incidental findings. Related questions about risks and benefits of probabilistic information and genomic information that does not lead to specific treatments will also be studied. This highly innovative study design will address a significant clinical need and important unmet challenges that slow or dilute the effectiveness of genomic information in the clinic.
描述(由申请人提供):本UMI提案的目标是解决技术、分析和伦理挑战,这些挑战阻碍了DNA测序的最佳使用,以改善患者及其家属的疾病治疗和生活规划。高通量DNA测序将用于满足发育迟缓、智力残疾和相关健康问题(“DD/ID”)儿童的主要诊断需求。DD/ID疾病给受影响的儿童及其家庭造成终身痛苦,是社会的主要卫生保健和经济负担。它们通常很可能是由任何特定家庭中的一个或几个高度渗透的,通常是新生的突变驱动的,但大多数儿童无法准确诊断,使治疗和家庭咨询变得困难。事实上,许多受影响的家庭经历了“诊断奥德赛”,包括多年的测试和医生访问,但没有具体的诊断。这项提议建立了哈德逊阿尔法研究所基因组学研究人员、伯明翰亚拉巴马大学附属的当地医学遗传学家和路易斯维尔大学对伦理、法律的
遗传信息在临床中的社会后果。600名患有DD/ID的儿童及其父母将被招募、同意并询问他们的医疗经历和对遗传信息的期望。 其中500名儿童及其父母将接受2阶段测序计划:1)“全外显子组测序”和2)“CNV测序”。前者是用于鉴定相关变体的具有成本效益的策略,特别是对于DD/ID的早发性、严重性和常常是新生的表型。后者是具有巨大潜力的用于鉴定相关调控突变的新颖策略,其在典型的临床测序策略中被忽略。医学相关的变异,无论是DD/ID的因果关系,还是偶然但预测其他疾病,都将由医学遗传学和遗传学顾问返回给家庭。 将使用随访问卷和访谈来确定返回的基因组信息对临床护理、计划生育以及可能因遗传诊断和偶然发现而改变的自我感知和幸福感的其他方面的影响。还将研究概率信息和基因组信息的风险和益处的相关问题,这些信息不会导致特定的治疗。这项高度创新的研究设计将解决重大的临床需求和重要的未满足的挑战,这些挑战减缓或稀释了基因组信息在临床中的有效性。
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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Richard M Myers其他文献
Richard M Myers的其他文献
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{{ truncateString('Richard M Myers', 18)}}的其他基金
Toward a comprehensive functional annotation of the human genome
人类基因组的全面功能注释
- 批准号:
8709029 - 财政年份:2012
- 资助金额:
$ 192.15万 - 项目类别:
Toward a comprehensive functional annotation of the human genome
人类基因组的全面功能注释
- 批准号:
8735982 - 财政年份:2012
- 资助金额:
$ 192.15万 - 项目类别:
Toward a comprehensive functional annotation of the human genome
人类基因组的全面功能注释
- 批准号:
8928009 - 财政年份:2012
- 资助金额:
$ 192.15万 - 项目类别:
Toward a comprehensive functional annotation of the human genome
人类基因组的全面功能注释
- 批准号:
8402461 - 财政年份:2012
- 资助金额:
$ 192.15万 - 项目类别:
Toward a comprehensive functional annotation of the human genome
人类基因组的全面功能注释
- 批准号:
8548394 - 财政年份:2012
- 资助金额:
$ 192.15万 - 项目类别:
2/2-Whole Genome and Exome Sequencing for Bipolar Disorder
双相情感障碍的 2/2-全基因组和外显子组测序
- 批准号:
8668562 - 财政年份:2011
- 资助金额:
$ 192.15万 - 项目类别:
2/2-Whole Genome and Exome Sequencing for Bipolar Disorder
双相情感障碍的 2/2-全基因组和外显子组测序
- 批准号:
8326235 - 财政年份:2011
- 资助金额:
$ 192.15万 - 项目类别:
2/2-Whole Genome and Exome Sequencing for Bipolar Disorder
双相情感障碍的 2/2-全基因组和外显子组测序
- 批准号:
8206174 - 财政年份:2011
- 资助金额:
$ 192.15万 - 项目类别:
2/2-Whole Genome and Exome Sequencing for Bipolar Disorder
双相情感障碍的 2/2-全基因组和外显子组测序
- 批准号:
8495418 - 财政年份:2011
- 资助金额:
$ 192.15万 - 项目类别:
HudsonAlpha Cancer Genome Characterization Center
HudsonAlpha 癌症基因组表征中心
- 批准号:
7908244 - 财政年份:2008
- 资助金额:
$ 192.15万 - 项目类别:
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