Molecular and clinical characterization of ion channelopathies

University Of Rochester, Rochester NY

Investigators

Linked publications & trials

Abstract

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.