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Omics-based Precision Medicine of Epilepsy

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状态
赞助商
Fudan University
合作者
Huashan Hospital
Peking University First Hospital
Peking University People's Hospital
Xiangya Hospital of Central South University
First Affiliated Hospital of Chongqing Medical University
Children's Hospital of Chongqing Medical University
Xuanwu Hospital, Beijing
Sanbo Brain Hospital Capital Medical University
Second Affiliated Hospital of Guangzhou Medical University

关键词

抽象

Epilepsy is a major disease of the nervous system (WHO, 2015), as well as the second most common neural disease. It has been recorded that there have been 65 million epilepsy patients all over the world, more than 10 million in China, resulted in high morbidity, high mortality, heavy social and social psychological burden. Due to complex etiology, which genetic playing a large part for 70%-80%, easy to recurrent, as well as various seizure types, a great heterogeneity in clinical manifestation, epilepsy is difficult to treat in general, at least 33% patients. At present, It's still a big challenge in early warning, choice of treatment, efficacy and severe adverse reaction rate, prognosis assessment. Lack of precise diagnosis based genetic and molecular bio-markers for treatment are the main key points. Recently, clinical phenotype classifications of epilepsy have been refined, the exist researches had made a progress in gene mutation mechanism and targeted therapy, which pushed epilepsy being another disease could be precise treated after tumor. It's sure to provide a breakthrough for another neural diseases if epilepsy precise treatment project are successful.

描述

Research projects:

Part 1: Based on already existed large samples of epilepsy clinical cases, choose 2,0000 non-acquired epilepsy patients for clinical general phenotype and middle phenotype(EEG and MRI) data collection to further multi-dimensional standardization measure and evaluate. Through metabolic detection to define micro-phenotype. Establish a standardized clinical and biological samples database.

Part 2: By NGS technology to sequence for all cases, including family members, then require genotype. To test brain tissue DNA somatic mutation, which MRI negative and had an operation. To verify the newly discovered pathogenic candidate genes and carry on functional studies. Finally, to draw epileptic genetic mutations mapping in Chinese people.

Part 3: Integrated clinical and genetic epilepsy phenotypic data, combined with neural EEG and image bitmap data points for bio-markers analysis, included early warning, classification of diagnosis, curative effect prediction and epilepsy con-morbidity disease.

日期

最后验证: 10/31/2017
首次提交: 11/25/2017
提交的预估入学人数: 11/28/2017
首次发布: 11/29/2017
上次提交的更新: 11/28/2017
最近更新发布: 11/29/2017
实际学习开始日期: 11/24/2017
预计主要完成日期: 11/25/2017
预计完成日期: 06/30/2018

状况或疾病

Epilepsy Idiopathic
Clinical Disease and/or Syndrome
Gene Mutation

干预/治疗

Other: EP

-

手臂组

干预/治疗
EP
For diagnosis non-acquired epilepsy;
Other: EP
non

资格标准

有资格学习的性别All
取样方式Probability Sample
接受健康志愿者
标准

Inclusion Criteria:

- non-acquired epilepsy; family involved(children, father and mother); Han nationality; Consent and will to follow up

Exclusion Criteria:

- Acquired epilepsy; Very low birth weight infant

结果

主要结果指标

1. The important bio-markers for the efficient therapy and prognosis [2017.02-2018.07]

the gene mutation or chromosome missing or duplication

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