Molecular and clinical characterization of ion channelopathies

描述(由申请人提供)： 申请者将根据她在疾病相关突变的基因研究方面的经验，以及她在由离子通道突变引起的低血钾性周期性麻痹的基因/表型相关研究方面的经验。她将与格里格斯博士在罗切斯特大学医学中心的通道病项目上合作，以实现以下目标：(1)通过课程工作获得生物统计学、临床试验设计、数据分析、流行病学和伦理学方面的专业知识；(2)通过参与罗切斯特周期性瘫痪的资助临床研究，获得临床试验实施方面的实践经验：Hyp HOP(二氯苯酰胺与乙酰唑胺治疗周期性瘫痪)，TAPP(Andersen-Tawil综合征中钾和乙酰唑胺的治疗试验)，神经通道病的临床研究(CINCH)；(3)协助设计和开发一项新的临床研究：《碳酸酐酶抑制剂无反应性周期性麻痹的治疗》。通过在罗切斯特临床试验协调中心与其他学员一起工作，她将获得临床/患者研究各个方面的经验和培训。回到中国的教职后，她将成为肌肉研究小组(MSG)的调查员，与一个资助的研究人员网络合作。申请者将开发和应用对经络病患者进行临床研究所需的技能。克·阿勒迪博士在她的家乡大学看到了大量合适的患者。通过与味精和CINCH合作，她将参与当前的研究，协助设计一项新的研究，并提交拨款申请，她将把资金带回中国，建立一个中心，该中心将与味精、神经经络病临床调查(CINCH)和其他通道病研究网络合作。柯博士将在设计神经肌肉通道病患者的研究方面获得经验和专业知识，以便能够在未来参与国际多中心研究。

DESCRIPTION (provided by applicant): The applicant will build upon her experience in the genetic research of disease-related mutations and her experience in genotype/phenotype correlative research on hypokalemic periodic paralysis, which is caused by ion channel mutations. She will work with Dr. Griggs on the Channelopathy Project at the University of Rochester Medical Center to accomplish these objectives: (1) obrtain expertise in biostatistics, clinical trial design, data analysis, epidemiology and ethical principles through course work; (2) gain practical experience in the conduct of clinical trials by working in the funded clinical studies in periodic paralyses in Rochester: HYP HOP (Dichlorphenamide vs Acetazolamide for Periodic Paralysis), TAPP (Therapeutic Trial of Potassium and Acetazolamide in Andersen-Tawil Syndrome), Clinical Investigation of Neurological Channelopathies (CINCH); (3) assist in the design and development of a new clinical study: "Treatment of Carbonic Anhydrase Inhibitor Nonresponsive Periodic Paralysis." By working in Rochester's Clinical Trials Coordination Center with other trainees, she will gain experience and training in all aspects of clinical/patient research. Upon her return to her faculty position in China, she will be a Muscle Study Group (MSG) investigator with to collaborate with a network of funded investigators. The applicant will develop and apply skills needed for clinical research on patients with Channelopathies. Dr. Ke alrady sees a large number of suitable patients at her home University. By working with the MSG and CINCH, she will participate in current studies, assist in the design of a new study and submit grant applications for funding which she will take back to China to establish a center that will have collaboration with the MSG, Clinical Investigation of Neurological Channelopathies (CINCH) and other Channelopathy research networks. Dr. Ke will gain experience and expertise in the design of studies of patients with neuromuscular Channelopathies in order to be able to participates international multicenter studies in the future.