MENTORED PATIENT-ORIENTED RESEARCH CAREER DEVELOPMENT AWARD

描述(由申请人提供)： 这项研究的目的是利用昼夜节律的分子生物学的最新发展来更好地了解人类的昼夜节律功能和昼夜节律紊乱。 研究人员将在一个由50名盲人组成的独特人群中测量内源性昼夜节律周期(tau，生物一天的长度)，从而实现非常精确的表型。他们还将通过测量昼夜节律相位和夹带相角来测量260名表型正常的受试者。在每个群体中定义了tau表型后，他们将确定是否相似的时钟基因等位基因预测两个群体中的表型。假设相似的等位基因预测有视力的受试者的昼夜偏爱和夹带相角，以及失明受试者的昼夜节律。 候选人乔纳森·S·伊曼斯医学博士计划成为生物钟生理学和遗传学领域的一名独立研究员。他希望更好地了解有视力的人的昼夜偏好和盲人24小时睡眠/起床时间紊乱的生理学和遗传学基础。他计划继续研究昼夜节律系统的基本机制，昼夜节律病因的疾病以及受昼夜节律功能影响的疾病。他计划从事睡眠医学的职业。 Emens博士将由Alfred J.Lewis医学博士和Susan Hayflick医学博士赞助，以获得这一职业发展奖。在刘易.S博士的指导下，埃门斯博士将扩展他在昼夜节律生理学领域的现有知识库，并将接受关于人类昼夜节律研究技术和昼夜节律系统的临床影响的培训。海弗里克博士将帮助伊曼斯博士加深对分子遗传学理论和技术的理解。此外，Emens博士还将完成一项严格的分子遗传学和临床研究技术教学计划。将完成生物化学、分子遗传学、真核细胞生物学、分子细胞生物学技术、生物统计学、临床研究的法律和伦理方面、科学写作、随机试验研究和医学信息学方面的课程。

DESCRIPTION (provided by applicant): The goal of this study is to utilize recent developments in the molecular biology of circadian rhythms to better understand circadian functioning and circadian disorders in humans. The investigators will measure the endogenous circadian period (tau, the length of the biological day) in a unique population of 50 blind subjects that allows for very precise phenotyping. They will also tau phenotype 260 sighted subjects by measurement circadian phase and phase angle of entrainment. After tau phenotypes have been defined in each population, they will determine whether similar clock gene alleles predict phenotypes in the two populations. It is hypothesized that similar alleles predict diurnal preference and phase angle of entrainment in sighted subjects and circadian period in blind subjects. The candidate, Jonathan S. Emens, M.D., plans to become an independent investigator in the area of circadian physiology and genetics. He wishes to better understand the physiologic and genetic basis of diurnal preference in sighted humans and 24-hour sleep/wake schedule disorders in the blind. He plans to continue research into the basic mechanisms of the circadian system, illnesses with a circadian etiology and diseases impacted by circadian functioning. He plans to pursue a career in sleep medicine. Dr. Emens will be sponsored by Alfred J. Lewy, M.D., Ph.D., and Susan Hayflick, M.D., for this career development award. Under Dr. Lewy s guidance, Dr. Emens will expand his existing knowledge base in the area of circadian physiology and will receive training in techniques of human circadian research and the clinical impact of the circadian system. Dr. Hayflick will help Dr. Emens to develop an understanding of the theory and techniques of molecular genetics. In addition, Dr. Emens will complete a rigorous didactic program in molecular genetics and clinical research techniques. Coursework will be completed in biochemistry, molecular genetics, eukaryotic cell biology, molecular cell biology techniques, biostatistics, legal and ethical aspects of clinical research, scientific writing, randomized trial research and medical informatics.