Clinical Research in ALS & Related Disorders for Therapeutic Development (CReATe) - Project Core #2
ALS 临床研究
基本信息
- 批准号:10687077
- 负责人:
- 金额:$ 41.95万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2014
- 资助国家:美国
- 起止时间:2014-09-30 至 2024-08-31
- 项目状态:已结题
- 来源:
- 关键词:ALS patientsAffectAgeAge of OnsetAlternative SplicingAmyotrophic Lateral SclerosisBiological MarkersCellular StressCharacteristicsClinicalClinical DataClinical ResearchClinical TrialsCollaborationsComplementComplexCopy Number PolymorphismDNA RepairDNA Repair PathwayDNA Sequence RearrangementDataDetectionDiseaseDisease ProgressionEnvironmental ExposureEnvironmental Risk FactorExposure toFrontotemporal DementiaFutureGenesGeneticGenetic Predisposition to DiseaseGenomicsGenotypeHereditary Spastic ParaplegiaHeterogeneityImpaired cognitionImpairmentLeadLesionLower Motor Neuron DiseaseMapsMotor NeuronsNuclearOnset of illnessOutcomePathologyPathway interactionsPatientsPhenotypePositioning AttributePrimary Lateral SclerosisProgressive Muscular AtrophyProteinsProtocols documentationPublishingRNARNA ProcessingRandomizedRepetitive SequenceRetroelementsSingle Nucleotide PolymorphismSiteSlideTechnologyTestingTranscriptUntranslated RNAUpper Motor Neuron DiseaseVariantVirus Integrationcigarette smokingcohortdisease phenotypefrontotemporal lobar dementia amyotrophic lateral sclerosisgene environment interactiongenetic variantgenome sequencinggenome wide association studygenomic datainnovationinsertion/deletion mutationnovelparticipant enrollmentpolygenic risk scoreprion-likeprotein foldingrare variantsingle molecule real time sequencingsuccesstherapeutic developmenttraittranscriptomevariant detectionwhole genome
项目摘要
Project Summary / Abstract
There is marked phenotypic variability among patients with amyotrophic lateral sclerosis (ALS) and related
disorders, such as frontotemporal dementia (FTD), primary lateral sclerosis (PLS), progressive muscular
atrophy (PMA), and hereditary spastic paraplegia (HSP), with respect to age and site of disease onset, upper
versus lower motor neuron pathology, presence and degree of cognitive dysfunction, rate of disease
progression and survival from disease onset. To explore this heterogeneity, we will examine a well-
characterized cohort of patients enrolled in the CReATe Consortium’s Phenotype-Genotype-Biomarker (PGB)
Protocol, for whom we have collected a wealth of clinical and genomic data. We aim to identify genetic variants
that modify underlying phenotypic characteristics of ALS and related diseases (age at onset, rapid versus slow
disease progression, cognitive impairment, survival from onset). Our strategy will include innovative
approaches (e.g., detection of retroelement insertion and viral integration) and cutting-edge technology (long-
read single-molecule real-time [SMRT] sequencing) to uncover variation that has been missed thus far.
Additionally, we will explore gene-environment interactions in a targeted manner by focusing on variants in
protein folding and DNA repair pathways and environmental risk factors (e.g., cigarette smoking). Replication will
be conducted in studies through our large collaborative network. The factors we identify through our studies will
enhance our ability to decipher the basis for the phenotypic heterogeneity of this group of diseases and will be critical
to the success of future clinical trials.
项目摘要/摘要
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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Joseph Paul Taylor其他文献
Joseph Paul Taylor的其他文献
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{{ truncateString('Joseph Paul Taylor', 18)}}的其他基金
Dynamic RNA-protein assemblies and neurological disease
动态RNA-蛋白质组装和神经系统疾病
- 批准号:
10300049 - 财政年份:2016
- 资助金额:
$ 41.95万 - 项目类别:
Dynamic RNA-protein assemblies and neurological disease
动态RNA-蛋白质组装和神经系统疾病
- 批准号:
10063575 - 财政年份:2016
- 资助金额:
$ 41.95万 - 项目类别:
Dynamic RNA-protein assemblies and neurological disease
动态RNA-蛋白质组装和神经系统疾病
- 批准号:
9170202 - 财政年份:2016
- 资助金额:
$ 41.95万 - 项目类别:
Dynamic RNA-protein assemblies and neurological disease
动态RNA-蛋白质组装和神经系统疾病
- 批准号:
10518397 - 财政年份:2016
- 资助金额:
$ 41.95万 - 项目类别:
Clinical Research in ALS & Related Disorders for Therapeutic Development (CReATe) - Project Core #2
ALS 临床研究
- 批准号:
10242883 - 财政年份:2014
- 资助金额:
$ 41.95万 - 项目类别:
Clinical Research in ALS & Related Disorders for Therapeutic Development (CReATe) - Project Core #2
ALS 临床研究
- 批准号:
10473844 - 财政年份:2014
- 资助金额:
$ 41.95万 - 项目类别:
Clinical Research in ALS & Related Disorders for Therapeutic Development (CReATe) - Project Core #2
ALS 临床研究
- 批准号:
10020813 - 财政年份:2014
- 资助金额:
$ 41.95万 - 项目类别:
HDAC6 and the intersection between the UPS, autophagy, and neurodegeneration
HDAC6 与 UPS、自噬和神经退行性疾病之间的交叉点
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8318723 - 财政年份:2008
- 资助金额:
$ 41.95万 - 项目类别:
HDAC6 and the intersection between the UPS, autophagy, and neurodegeneration
HDAC6 与 UPS、自噬和神经退行性疾病之间的交叉点
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8127737 - 财政年份:2008
- 资助金额:
$ 41.95万 - 项目类别:
HDAC6 and the intersection between the UPS, autophagy, and neurodegeneration
HDAC6 与 UPS、自噬和神经退行性疾病之间的交叉点
- 批准号:
7917239 - 财政年份:2008
- 资助金额:
$ 41.95万 - 项目类别:
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