Type 1 diabetes genetic risk scores for the diagnosis of diabetes type in children of diverse racial and ethnic background
用于诊断不同种族和民族背景儿童糖尿病类型的 1 型糖尿病遗传风险评分
基本信息
- 批准号:10350614
- 负责人:
- 金额:$ 67.32万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2021
- 资助国家:美国
- 起止时间:2021-02-15 至 2025-01-31
- 项目状态:未结题
- 来源:
- 关键词:AcuteAddressAdultAffectAfricanAfrican ancestryBeta CellBody mass indexC-PeptideCaucasiansCell physiologyCharacteristicsChildChildhoodChildhood diabetesChronicClassificationClinicalClinical ManagementClinical ResearchCohort StudiesComplications of Diabetes MellitusDataDependenceDevelopmentDiabetes MellitusDiabetic KetoacidosisDiagnosisDietDisadvantagedDiseaseEthnic OriginEthnic groupFrequenciesGeneticGenetic RiskGoalsHealthIncidenceIndividualInsulinInsulin deficiencyInsulin-Dependent Diabetes MellitusMeasuresMedical ResearchMissionModelingNational Institute of Diabetes and Digestive and Kidney DiseasesNon-Insulin-Dependent Diabetes MellitusOralOutcomePerformancePersonsPharmaceutical PreparationsPhenotypePhysiciansPredispositionPublic HealthQuality of lifeRaceResearchResidual stateRiskSNP genotypingSamplingSubgroupTestingTimeTreatment outcomeYouthaccurate diagnosisblood glucose regulationclinically relevantcostdesigndiabetes controleconomic costethnic diversityethnic minoritygenetic testingimprovedimproved outcomeinnovationislet cell antibodylongitudinal designminority childrennovelpredictive modelingprospectiveracial and ethnicracial disparityracial diversityscreeningtooltype I and type II diabetes
项目摘要
PROJECT SUMMARY
A large and growing number of pediatric diabetes cases cannot be classified at diagnosis with the current criteria,
particularly among non-Caucasian children. The longitudinal observation of the clinical course that is often
needed to classify diabetes causes harmful delays in the correct treatment. Mistakes in diagnosis and treatment
may contribute to the higher frequency of diabetic complications in racial/ethnic minorities. Thus, there is a critical
need for robust criteria that can be applied at diagnosis to inform clinical decisions in children of all racial/ethnic
backgrounds. The long-term objective is to characterize pediatric diabetes at onset to inform clinical
management in a timely fashion and thus, ultimately improve outcomes in racially/ethnically diverse children. As
preliminary data, the applicants have developed and validated type 1 diabetes (T1D) Genetic Risk Scores
(GRSs) that, in adults with unclear diabetes, identify those with T1D, defined by rapid insulin dependence; and
have also demonstrated that a T1D GRS improves the current predictive model for progression to T1D in
individuals at risk. The central hypothesis of this application is that T1D GRSs, in combination with islet
autoantibodies and other factors at diabetes onset, can be used in racially/ethnically diverse children to identify
those who have T1D, defined by rapid loss of C-peptide (measure of beta-cell function), as this is the T1D
characteristic with the largest clinical impact. The rationale for this proposal is that timely characterization of
diabetes, which is particularly difficult in minority children, will facilitate early establishment of the correct
treatment, improve diabetes outcomes and lower the costs of diabetes, which are currently over $327 billion
yearly. Guided by strong preliminary data, this hypothesis will be tested in racially/ethnically diverse children with
diabetes by assessing the ability of T1D GRSs, in combination with other factors, to identify those who have
T1D, defined as insulin deficiency (low C-peptide), in a cross-sectional (Specific Aim 1) and prospective (Specific
Aim 2) manner. This project is significant because it is ultimately expected to improve the treatment of pediatric
diabetes and thus its clinical outcomes, with particular impact on disadvantaged racial/ethnic groups. This project
is innovative because it seeks to shift the current clinical and research practices by proposing to utilize genetics
as a novel, affordable, time-independent strategy to diagnose T1D, identified by a clinically relevant
characteristic.
项目摘要
大量且不断增长的儿科糖尿病病例在诊断时不能用当前的标准进行分类,
尤其是非白种人儿童。对临床过程的纵向观察,
对糖尿病进行分类所需的信息会导致正确治疗的有害延迟。诊疗失误
可能导致少数种族/民族中糖尿病并发症的发生率较高。因此,有一个关键的
需要在诊断时应用可靠的标准,以告知所有种族/民族儿童的临床决策
背景长期目标是描述儿童糖尿病的发病特征,
因此,我们需要及时进行管理,从而最终改善种族/族裔多样化儿童的结果。作为
根据初步数据,申请人开发并验证了1型糖尿病(T1 D)遗传风险评分
(GRS),在患有不明糖尿病的成年人中,识别T1 D患者,定义为快速胰岛素依赖;以及
还证明了T1 D GRS改善了T1 D进展的当前预测模型,
处于危险中的个人。本申请的中心假设是T1 D GRS,与胰岛β细胞分泌物结合,
糖尿病发病时的自身抗体和其他因素,可用于种族/民族多样化的儿童,以确定
患有T1 D的人,定义为C肽(β细胞功能的测量)的快速丧失,因为这是T1 D
具有最大临床影响的特征。提出这一建议的理由是,
糖尿病,这是特别困难的少数民族儿童,将有助于早期建立正确的
治疗,改善糖尿病的结果,降低糖尿病的成本,目前超过3270亿美元
每年一次。在强有力的初步数据的指导下,这一假设将在种族/民族多样化的儿童中进行检验,
通过评估T1 D GRS的能力,结合其他因素,以确定那些患有糖尿病的人,
T1 D,定义为胰岛素缺乏(低C肽),在横断面(特定目标1)和前瞻性(特定
目标2)方式。该项目意义重大,因为它最终有望改善儿童的治疗。
糖尿病及其临床结果,特别是对弱势种族/族裔群体的影响。这个项目
是创新的,因为它试图通过利用遗传学来改变目前的临床和研究实践。
作为一种新型的、经济实惠的、不依赖时间的T1 D诊断策略,通过临床相关的
特色
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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Maria Jose Redondo其他文献
Maria Jose Redondo的其他文献
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{{ truncateString('Maria Jose Redondo', 18)}}的其他基金
Type 1 diabetes genetic risk scores for the diagnosis of diabetes type in children of diverse racial and ethnic background
用于诊断不同种族和民族背景儿童糖尿病类型的 1 型糖尿病遗传风险评分
- 批准号:
10558569 - 财政年份:2021
- 资助金额:
$ 67.32万 - 项目类别:
Type 1 Diabetes Genetic Risk Score in TrialNet
TrialNet 中的 1 型糖尿病遗传风险评分
- 批准号:
10650137 - 财政年份:2019
- 资助金额:
$ 67.32万 - 项目类别:
Type 1 Diabetes Genetic Risk Score in TrialNet
TrialNet 中的 1 型糖尿病遗传风险评分
- 批准号:
10398018 - 财政年份:2019
- 资助金额:
$ 67.32万 - 项目类别:
Type 1 Diabetes Genetic Risk Score in TrialNet
TrialNet 中的 1 型糖尿病遗传风险评分
- 批准号:
9977185 - 财政年份:2019
- 资助金额:
$ 67.32万 - 项目类别:
Texas Children's Hospital and Baylor College of Medicine TrialNet Clinical Center
德克萨斯儿童医院和贝勒医学院 TrialNet 临床中心
- 批准号:
8902136 - 财政年份:2014
- 资助金额:
$ 67.32万 - 项目类别:
Texas Children's Hospital and Baylor College of Medicine TrialNet Clinical Center
德克萨斯儿童医院和贝勒医学院 TrialNet 临床中心
- 批准号:
9434987 - 财政年份:2014
- 资助金额:
$ 67.32万 - 项目类别:
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