Exploring the Genomic Dark Matter of Neurodevelopmental Disorders
探索神经发育障碍的基因组暗物质
基本信息
- 批准号:10615832
- 负责人:
- 金额:$ 20.31万
- 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:2022-05-01 至 2024-08-31
- 项目状态:已结题
- 来源:
- 关键词:Adaptive BehaviorsAdoptedAffectBar CodesChildClinicalCognitionComplexCounselingDNADefectDetectionDevelopmentDiagnosisDiagnosticDiagnostic ProcedureDiagnostic testsDiseaseDisease ManagementEtiologyEvaluationEventFamilyFoundationsFutureGenesGeneticGenetic Predisposition to DiseaseGenetic VariationGenomeGenome MappingsGenomic SegmentGenomic approachGenomicsGoalsHuman GenomeImpairmentIndividualInheritance PatternsIntellectual functioning disabilityInvestigationKnowledgeMapsMethodsModernizationMolecularMorbidity - disease rateNatureNeurodevelopmental DisorderNeuronsOnset of illnessOpticsParentsPathogenicityPatientsPilot ProjectsPlayPopulationPrevalencePreventionPrognosisPublic HealthQuality of lifeRecurrenceRepetitive SequenceSiteSocietiesSubgroupSymptomsTechniquesTechnologyTestingTherapeutic InterventionTubeValidationVariantbrain abnormalitiesburden of illnesscare costscausal variantclinically significantcomorbiditycost effectivedark matterdata integrationdetection methoddiagnostic screeningdiagnostic toolexomegenetic testinggenetic variantgenome sequencinggenomic variationimprovedinnovationinnovative technologieslife time costneurodevelopmentnext generation sequencingnoveloffspringrare variantreconstructiontherapeutic development
项目摘要
SUMMARY
Neurodevelopmental disorders (NDDs) comprise of a group of disorders associated with abnormal brain
development. NDDs with intellectual disability (ID), characterized by significant limitations in intellectual
functioning and adaptive behavior, affect 1% of the population globally and pose a significant public health
burden on society. The underlying neuronal mechanisms of dysregulation that trigger NDD onset and
progression are not fully understood. Rare genetic variants have been shown to play a key role in their
development, especially in those NDDs which are severe in nature. During the last decade, genetic testing has
emerged as an important etiological diagnostic test for NDDs with a considerable impact on disease
management and treatment. Yet, current genetic testing has a diagnostic rate of ~ 50%. Due to technical
limitations in modern next-generation sequencing techniques, these techniques fail to asses a large part of the
genome (2/3rd), missing critical regions which may have clinical significance. New methods now have emerged
that can assess these regions (i.e. the genomic dark matter) better, can access repetitive regions and identify
complex structural genomic events with more accuracy.
As such, we hypothesize that a large fraction of genetic variation involved in the etiology of NDDs remains
undetected by current sequencing techniques. It is imperative to characterize the spectrum of genomic variants
that remain undetected in NDDs to improve diagnostic detection methods. Our goal is two adopt two new cost-
effective technologies, i.e. Optical Genome Mapping (OGM) and Single Tube Long Fragment Reads sequencing
(stLFR), to identify the underlying genetic cause in 50 genetically unsolved families with severe NDDs including
ID. These families were previously investigated using standard short-read sequencing technologies with
inconclusive results. Combining both stLFR and OGM will provide an enhanced overview of genomic variation
in difficult to diagnose cases, including clinically significant genomic variation. This project is a pilot project aimed
to better understand the genomic landscape of variants associated with aberrant neurodevelopment and
cognition. Our current understanding of the human genome is still limited due to restrictions in technologies, and
these results will lay the foundation for a larger scale study which will eventually improve genetic diagnostic
screening and patient management.
总结
项目成果
期刊论文数量(1)
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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Isabelle Veerle Suzanne Schrauwen其他文献
Isabelle Veerle Suzanne Schrauwen的其他文献
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{{ truncateString('Isabelle Veerle Suzanne Schrauwen', 18)}}的其他基金
Exploring the Genomic Dark Matter of Neurodevelopmental Disorders
探索神经发育障碍的基因组暗物质
- 批准号:
10452910 - 财政年份:2022
- 资助金额:
$ 20.31万 - 项目类别:
Unraveling the genetic architecture of cochleovestibular malformations
揭示耳蜗前庭畸形的遗传结构
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10672304 - 财政年份:2022
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Unraveling the genetic architecture of cochleovestibular malformations
揭示耳蜗前庭畸形的遗传结构
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10522114 - 财政年份:2022
- 资助金额:
$ 20.31万 - 项目类别:
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