Molecular and clinical characterization of ion channelopathies

描述（由申请人提供）： 申请人将基于其在疾病相关突变的遗传学研究方面的经验以及其在离子通道突变引起的低钾型周期性麻痹的基因型/表型相关研究方面的经验。她将在罗切斯特大学医学中心与Griggs博士合作开展脊髓病项目，以实现以下目标：（1）通过课程学习获得生物统计学、临床试验设计、数据分析、流行病学和伦理原则方面的专业知识;（2）通过在罗切斯特的周期性麻痹的资助临床研究中工作，获得开展临床试验的实践经验：HYP HOP（双氯苯那胺与乙酰唑胺治疗周期性麻痹）、TAPP（钾和乙酰唑胺治疗Andersen-Tawil综合征的试验）、神经系统疾病的临床研究（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周期性麻痹的治疗”。“通过在罗切斯特的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。回到中国后，她将成为肌肉研究小组（MSG）的研究员，与一个受资助的研究人员网络合作。申请人将开发和应用对患者进行临床研究所需的技能。柯医生在她的家乡大学看到了大量合适的病人。通过与MSG和CINCH的合作，她将参与当前的研究，协助设计一项新的研究，并提交资助申请，她将带回中国建立一个中心，该中心将与MSG，神经退行性疾病临床研究（CINCH）和其他退行性疾病研究网络合作。柯博士将在神经肌肉萎缩症患者的研究设计方面获得经验和专业知识，以便将来能够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.