Leveraging human genetics to overcome complex diagnostic challenges, evaluation of pan-ancestry polygenic scores to reduce misdiagnosis of narcolepsy and circadian rhythm sleep wake disorders.
利用人类遗传学克服复杂的诊断挑战,评估泛祖多基因评分以减少发作性睡病和昼夜节律睡眠觉醒障碍的误诊。
基本信息
- 批准号:10576448
- 负责人:
- 金额:$ 71.61万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2023
- 资助国家:美国
- 起止时间:2023-03-16 至 2028-01-31
- 项目状态:未结题
- 来源:
- 关键词:AccelerationAddressAutoimmuneAwarenessCatalogsCircadian RhythmsClinicClinicalComplexComputer softwareDatabasesDiagnosisDiagnosticDiagnostic testsDiseaseEarly DiagnosisEarly identificationEuropean ancestryEvaluationFaceGenesGeneticGenetic RiskGoalsHealthcareHealthcare SystemsHospitalsHuman GeneticsIndividualInequalityInsurance CoverageMedicineMental DepressionNarcolepsyPathogenicityPatientsPharmaceutical PreparationsPhasePhenotypePopulationPrimary Care PhysicianProcessRare DiseasesRecordsRiskRisk FactorsRisk MarkerSleepSleep DisordersSleeplessnessTestingUnnecessary ProceduresVariantVisitWomanWorkaccurate diagnosisbiobankcircadiancohortdisorder riskearly screeningexomeexome sequencinggenetic predictorsgenetic variantgenome sequencinggenome wide association studyhealth disparityhealth inequalitiesimprovedlarge-scale databasemedical specialtiesnovelpeople of colorpersonalized predictionspolygenic risk scorerare variantrepositoryrisk predictionrisk variantroutine screeningscreeningsleep behaviortimelinetrait
项目摘要
Project Summary/Abstract
One of the biggest challenges in rare disease is accuracy and timeliness of patient diagnosis. On average it
takes 6 years for an accurate diagnosis, delaying treatment and creating substantial burden at the levels of
individual, familial and healthcare systems with an estimated $750 billion spent on unnecessary procedures.
Misdiagnosis also widens inequalities further, as misdiagnosis is more common among women and people of
color. Therefore, there is an urgent need to improve diagnosis. Genetic risk predictions can improve diagnosis,
with particular clinical utility in the specific setting where large barriers to diagnosis exist, such as rare sleep
disorders. The rare sleep disorders narcolepsy and circadian rhythm sleep wake disorders face large hurdles
to diagnosis, where 20% of primary care physicians are unaware that sleep medicine exists as a specialty,
routine screening for sleep disorders is nearly absent, diagnostic tests require overnight visits to a limited
number of specialized clinics, and insurance coverage for common diagnostic tests is non-existent. In contrast
to the current diagnostic landscape for sleep disorders, genetic risk prediction is relatively inexpensive and
easily accessible. In order to integrate genetic risk into the diagnosis and treatment pipeline, we must first
have genetic predictors of risk applicable across multiple ancestry groups, or we risk widening inequities in
healthcare further. To address the challenge of timely patient diagnosis in sleep disorders, we propose to
leverage large exome sequence repositories to generate rare variant risk scores, expand the current known
common polygenic scores to multiple genetic ancestries, and ultimately test the ability of both the rare and
common polygenic scores to predict risk of rare sleep and circadian disorders in a large-scale hospital
database with the goal to integrate flags in patient records.
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)
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Jacqueline Marie Lane其他文献
Jacqueline Marie Lane的其他文献
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{{ truncateString('Jacqueline Marie Lane', 18)}}的其他基金
Genetics of human circadian rhythms: using sequencing, novel phenotyping methods, and functional assays to move towards a deeper understanding of circadian mechanisms
人类昼夜节律的遗传学:利用测序、新颖的表型分析方法和功能分析来更深入地了解昼夜节律机制
- 批准号:
10707160 - 财政年份:2022
- 资助金额:
$ 71.61万 - 项目类别:
Genetics of human circadian rhythms: using sequencing, novel phenotyping methods, and functional assays to move towards a deeper understanding of circadian mechanisms
人类昼夜节律的遗传学:利用测序、新颖的表型分析方法和功能分析来更深入地了解昼夜节律机制
- 批准号:
10814457 - 财政年份:2022
- 资助金额:
$ 71.61万 - 项目类别:
Genetic and molecular basis of circadian rhythm disorders
昼夜节律紊乱的遗传和分子基础
- 批准号:
10668625 - 财政年份:2018
- 资助金额:
$ 71.61万 - 项目类别:
Genetic and molecular basis of circadian rhythm disorders
昼夜节律紊乱的遗传和分子基础
- 批准号:
9900859 - 财政年份:2018
- 资助金额:
$ 71.61万 - 项目类别:
Genetic and molecular basis of circadian rhythm disorders
昼夜节律紊乱的遗传和分子基础
- 批准号:
10369051 - 财政年份:2018
- 资助金额:
$ 71.61万 - 项目类别:
Impact of genetic variants on sleep timing and type 2 diabetes risk
遗传变异对睡眠时间和 2 型糖尿病风险的影响
- 批准号:
8835258 - 财政年份:2015
- 资助金额:
$ 71.61万 - 项目类别:
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