Unraveling the genetic architecture of cochleovestibular malformations
揭示耳蜗前庭畸形的遗传结构
基本信息
- 批准号:10672304
- 负责人:
- 金额:$ 41万
- 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:2022-08-01 至 2027-05-31
- 项目状态:未结题
- 来源:
- 关键词:AffectAfricanAnatomyBelgiumBilateralCandidate Disease GeneCellsChildChild DevelopmentCitiesClinicalCochleaCollaborationsCollectionComplexCounselingCountryDNADataData SetDatabasesDefectDeveloped CountriesDevelopmentDiagnosisDiagnosticDiseaseEarEthnic OriginEthnic PopulationEtiologyEventFamilyFutureGene ExpressionGenesGeneticGenetic Predisposition to DiseaseGenomicsHeightHispanicHispanic PopulationsHospitalsHumanImageImaging TechniquesIn Situ HybridizationIndividualInterventionKnowledgeLabyrinthMagnetic Resonance ImagingMethodsMexicoModelingMolecularMolecular DiagnosisMolecular Diagnostic TestingNerveNeural CrestNew York CityNewborn InfantNot Hispanic or LatinoOtolaryngologistParentsPathogenicityPatientsPhenotypePopulationPopulation HeterogeneityProductivityRNA analysisRaceRepetitive SequenceResearchResolutionResourcesSensorineural Hearing LossSensorySiteSouth AsianTemporal bone structureTherapeuticTherapeutic InterventionUnited StatesVariantWashingtonWorkX-Ray Computed Tomographyautosomebone imagingcausal variantcohortcongenital hearing losscost effectivecraniofacialdark matterde novo mutationdemographicsdiagnostic screeningdiagnostic toolethnic diversityethnic health disparityexomeexome sequencingexperimental studygenetic architecturegenetic variantgenome sequencinggenomic datagenomic variationhealth disparityhearing impairmentimprovedinner ear developmentinnovationinsightmalformationmolecular diagnosticsnegative affectnovelnovel therapeutic interventionoutcome predictionparticipant enrollmentpersonalized medicinephenotypic datapreferenceprobandracial diversityracial health disparityracial populationrecruitrepositoryscreeningsoundtherapeutic developmenttranscriptome sequencing
项目摘要
SUMMARY
Hearing impairment is a common and disabling sensory defect which in a subset of individuals can be due to an
abnormal cochleovestibular anatomy. Cochleovestibular (CV) and cochleovestibular nerve (CVN) anomalies can
significantly impact a child’s development and currently pose challenges in treatment and management. Little
research has been done to understand the etiology of these malformations, especially those that are non-
syndromic and severe, such as cochlear aplasia. There is a crucial need to better understand the underlying
molecular mechanisms of these conditions to aid in diagnosis, intervention and management. In addition, health
disparities exist in the molecular diagnosis and treatment of hearing impairment (HI) in Hispanics, as the
molecular etiology of HI has been scarcely studied in this ethnic group. It is imperative to study the etiology of
CV/CVN anomalies in diverse racial/ethnic populations to understand which genes/variants are a frequent cause
of this disorder in each population. Molecular diagnostics and treatment can therefore be tailored based on
population-specific information.
We hypothesize that a significant subset of severe non-syndromic CV/CVN anomalies has a genetic etiology,
which may differ between populations, and knowledge of this information will improve our understanding of inner
ear development. Our preliminary research suggests that rare genetic variants, including de novo variants, are
implicated in the development of severe CV/CVN anomalies. Our proposal leverages genomics data and
temporal bone imaging data to unravel the molecular basis of non-syndromic CV/CVN malformations. To achieve
this, we will 1) recruit and establish a large genomic database of racially/ethnically diverse families with CV/CVN
malformations which have been phenotyped in detail. 2) Next, we will determine the genetic spectrum of
underlying variation implicated in CV/CVN malformations in both Hispanic and non-Hispanic individuals. 3) Last,
using recruited and existing cohorts of individuals with CV/CVN malformations and prelingual sensorineural
hearing impairment, we will identify novel causal genes implicated in CV/CVN malformations and assess their
expression during early craniofacial and inner ear development.
We have assembled a team that has the collective expertise to achieve these aims as well as a prior track record
of productive collaboration. This work will elucidate the genetic architecture of severe non-syndromic CV/CVN
malformations diverse ethnic/racial populations and improve our basic knowledge of human inner ear
development and the mechanisms leading to abnormal development. This knowledge can then be used to
improve molecular diagnostics, guide therapeutic intervention and management, predict outcomes, and develop
novel therapeutic approaches benefiting individuals of diverse ethnicity/racial background.
总结
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 }}
Isabelle Veerle Suzanne Schrauwen其他文献
Isabelle Veerle Suzanne Schrauwen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('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:
10615832 - 财政年份:2022
- 资助金额:
$ 41万 - 项目类别:
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:
$ 41万 - 项目类别:
Unraveling the genetic architecture of cochleovestibular malformations
揭示耳蜗前庭畸形的遗传结构
- 批准号:
10522114 - 财政年份:2022
- 资助金额:
$ 41万 - 项目类别:
相似海外基金
Tracing the African roots of Sri-Lanka Portuguese
追溯斯里兰卡葡萄牙语的非洲根源
- 批准号:
AH/Z505717/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant
Commercialisation of African Youth Enterprise Programme
非洲青年企业计划商业化
- 批准号:
ES/Y010752/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant
Evaluating the effectiveness and sustainability of integrating helminth control with seasonal malaria chemoprevention in West African children
评估西非儿童蠕虫控制与季节性疟疾化学预防相结合的有效性和可持续性
- 批准号:
MR/X023133/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Fellowship
Resilient and Equitable Nature-based Pathways in Southern African Rangelands (REPAiR)
南部非洲牧场弹性且公平的基于自然的途径 (REPAiR)
- 批准号:
NE/Z503459/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant
Bovine herpesvirus 4 as a vaccine platform for African swine fever virus antigens in pigs
牛疱疹病毒 4 作为猪非洲猪瘟病毒抗原的疫苗平台
- 批准号:
BB/Y006224/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant
Understanding differences in host responses to African swine fever virus
了解宿主对非洲猪瘟病毒反应的差异
- 批准号:
BB/Z514457/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Fellowship
The impact on human health of restoring degraded African drylands
恢复退化的非洲旱地对人类健康的影响
- 批准号:
MR/Y019806/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant
CAREER: Habitability of the Hadean Earth - A South African perspective
职业:冥古宙地球的宜居性——南非的视角
- 批准号:
2336044 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Continuing Grant
Nowcasting with Artificial Intelligence for African Rainfall: NAIAR
利用人工智能预测非洲降雨量:NAIAR
- 批准号:
NE/Y000420/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant
South African Modernism (Follow-on-Funding): Decolonising English Literary Studies In and Beyond the Classroom
南非现代主义(后续资助):课堂内外的英国文学研究去殖民化
- 批准号:
AH/Z50581X/1 - 财政年份:2024
- 资助金额:
$ 41万 - 项目类别:
Research Grant