Accessible FSHD diagnostics through epigenetic analysis
通过表观遗传分析进行 FSHD 诊断
基本信息
- 批准号:10391097
- 负责人:
- 金额:$ 17.2万
- 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:2022-02-01 至 2024-01-31
- 项目状态:已结题
- 来源:
- 关键词:4q35AddressAdultAffectAgeBiological AssayBloodCLIA certifiedChildChromosomesChronicClinicalClinical TrialsCommunitiesComplexComputer softwareConsumptionD4Z4DNADNA MethylationDevelopmentDiagnosisDiagnosticDiagnostic testsDideoxy Chain Termination DNA SequencingDiseaseEpigenetic ProcessEthnic groupEvaluationFacioscapulohumeral Muscular DystrophyFamilyFamily memberFemaleGenerationsGenesGenomic DNAIndividualInjuryKnowledgeLaboratoriesLifeLimb structureMethodologyModificationMolecular WeightMotorMuscular DystrophiesMyopathyNatural HistoryNeurologistNeuromuscular DiseasesOutcomeParticipantPatientsPenetrancePersonsPopulationPopulations at RiskPrevalencePrognostic MarkerProtocols documentationRunningSalivaSamplingSeveritiesSiteSourceSymptomsTechniquesTestingTimeUnderserved PopulationValidationWorkanalysis pipelinebaseclinical diagnosisclinical outcome measurescostdiagnostic biomarkerexome sequencinggenetic testingmalemeetingsmembernext generation sequencingnovel diagnosticspatient stratificationprognostic signatureprognostic valueresearch clinical testingsaliva sampletargeted sequencingunderserved community
项目摘要
SUMMARY
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disease
that affects males and females of all ages. FSHD is thought to be the third most prevalent
muscular dystrophy (~12:100,000 adults); however, due to variable severity and complications
with genetic testing, many people remain undiagnosed and the prevalence may be significantly
higher. The clinical diagnosis of FSHD by a neurologist can be complicated by the variability of
disease presentation, and is often misdiagnosed as a limb-girdle type muscular dystrophy or a
simple chronic injury. Standard genetic testing for neuromuscular disease using gene-specific
targeted sequencing panels or even whole exome sequencing does not identify FSHD1
(representing >95% of FSHD cases) and can easily miss FSHD2 (<5% of cases). Following
clinical diagnosis, genetic testing is expensive and not accessible to many populations. Thus,
due to a combination of late onset, slow progression of weakness, highly variable clinical
presentation, and lack of access to or knowledge of specific genetic testing, many FSHD
individuals remain undiagnosed for years and the disease runs through families, affecting
multiple members across several generations. In addition, since current genetic testing for
FSHD is costly, time-consuming, complex, incomplete, and incompatible with standard genetic
testing techniques for other neuromuscular diseases, we know very little about the prevalence of
FSHD in many parts of the world as well as in certain ethnic and underserved populations even
within the US. To address this need, we recently developed a novel diagnostic test for all forms
of FSHD based on the epigenetic status of the disease locus. This analysis can be performed
on genomic DNA from any source, including saliva, and of almost any quality, thereby making it
widely available and accessible to family members of any age and people around the world in
underserved communities. Here, we will convert the current diagnostic protocol from low-
throughput single use to a high-throughput next-generation sequencing protocol. This transition
will greatly reduce the cost of the assay and render it more amenable to meeting CLIA approval.
In addition, we are collaborating with the MOVE FSHD study and performing epigenetic analysis
on all 250 participants. These subjects will have in-depth clinical evaluations and documented
natural histories which will allow us to determine if epigenetic profiles of the disease locus can
serve as a prognostic biomarker for FSHD.
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)
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Peter L Jones其他文献
Engineered telomeres in transgenic Xenopus laevis
转基因非洲爪蟾的工程端粒
- DOI:
10.1007/s11248-007-9076-0 - 发表时间:
2007 - 期刊:
- 影响因子:3
- 作者:
R. Wuebbles;Peter L Jones - 通讯作者:
Peter L Jones
Purification of MeCP2-containing deacetylase from Xenopus laevis.
从非洲爪蟾中纯化含有 MeCP2 的脱乙酰酶。
- DOI:
10.1385/1-59259-182-5:131 - 发表时间:
2002 - 期刊:
- 影响因子:0
- 作者:
Peter L Jones;P. Wade;A. Wolffe - 通讯作者:
A. Wolffe
Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design
面肩肱肌营养不良症 MRI 与基因特征之间关联的验证:对临床试验设计的影响
- DOI:
- 发表时间:
2023 - 期刊:
- 影响因子:0
- 作者:
Chao;S. Friedman;L. Snider;S. R. Bennett;T. Jones;Peter L Jones;Dennis Shaw;S. Blemker;Lara I. Riem;Olivia DuCharme;R. Lemmers;S. M. van der Maarel;Leo H. Wang;R. Tawil;J. Statland;S. Tapscott - 通讯作者:
S. Tapscott
Programming the Transcriptional State of Replicating Methylated DNA*
对复制甲基化 DNA 的转录状态进行编程*
- DOI:
10.1074/jbc.m010967200 - 发表时间:
2001 - 期刊:
- 影响因子:0
- 作者:
W. Stünkel;S. Ait;Peter L Jones;A. Wolffe - 通讯作者:
A. Wolffe
Facioscapulohumeral muscular dystrophy region gene 1 (FRG1) is a dynamic RNA-associated and actin bundling protein
面肩肱型肌营养不良症区域基因 1 (FRG1) 是一种动态 RNA 相关和肌动蛋白捆绑蛋白
- DOI:
- 发表时间:
2011 - 期刊:
- 影响因子:0
- 作者:
C. Sun;S. Koningsbruggen;Steven W. Long;Kirsten;Straasheijm;R. Klooster;T. Jones;M. Bellini;L. Lévesque;William;M. Brieher;S. M. V. D. Maarel;Peter L Jones - 通讯作者:
Peter L Jones
Peter L Jones的其他文献
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{{ truncateString('Peter L Jones', 18)}}的其他基金
Accessible FSHD diagnostics through epigenetic analysis
通过表观遗传分析进行 FSHD 诊断
- 批准号:
10556422 - 财政年份:2022
- 资助金额:
$ 17.2万 - 项目类别:
Pathogenic Mechanisms in Facioscapulohumeral Muscular Dystrophy
面肩肱型肌营养不良症的发病机制
- 批准号:
9277391 - 财政年份:2016
- 资助金额:
$ 17.2万 - 项目类别:
Establishing an FSHD-like mouse for therapeutic development
建立类 FSHD 小鼠用于治疗开发
- 批准号:
9167305 - 财政年份:2016
- 资助金额:
$ 17.2万 - 项目类别:
Mechanisms of DUX4 mediated FSHD pathology
DUX4 介导的 FSHD 病理机制
- 批准号:
10554358 - 财政年份:2013
- 资助金额:
$ 17.2万 - 项目类别:
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