Clinical and Translational studies in muscle disease

此K24应用程序的首要目标是进一步发展我的临床 研究人员和支持未来的医生科学家的培训。我的病人导向研究 兴趣涉及了解临床，病理，遗传和病理机制 肌肉无力的遗传和后天形式的基础。有了这个支持 授予，我将继续执行肌肉疾病患者的基因发现，增加我们的 生物储存库，解决未知意义的变异，并了解表型 这些疾病的症状。此外，我将增加我的指导责任， 研究生，住院医师，研究员和初级教师在神经肌肉 研究小组和华盛顿大学医学院神经病学系。而且我 将学习与指导有关的宝贵技能，并接受与多样性有关的培训， 包容。K24补助金将保护50%的努力，并减轻未来的临床和行政管理 责任该提案的两个相互关联的目标是：1）解决未知的变量 LGMD基因的意义。2)进行与罕见肌肉疾病相关的自然史研究。 这些目标将利用我们在华盛顿大学内现有的生物储存库来实现 医学院神经肌肉遗传学项目和新患者的获取， 病人的材料。通过K24职业中期研究者奖提供支持，以患者为导向 研究将在我职业生涯的关键时刻到来，因为我巩固了我的独立研究 计划和增加我的可用性，以指导研究生，博士后研究员， 住院医师，神经肌肉研究员和初级教师在翻译肌学。完成后 我将把临床实习生融入我们现有的转化研究中， 基础设施，并创建了一个成功的管道，以产生下一代临床医生- 科学家专注于肌肉疾病。

The overarching goal of this K24 application is to further my development as a clinical investigator and support the training of future physician scientists. My patient oriented research interests relate to understanding the clinical, pathologic, genetic and pathomechanistic underpinnings of inherited and acquired forms of muscle weakness. With the support of this grant, I will continue to perform genetic discovery of patients with muscle disease, increase our biorepository, resolve variants of unknown significance and understand the phenotypic spectrum of these diseases. In addition, I will increase my mentorship responsibilities of graduate students, resident physicians, fellows and junior faculty within the neuromuscular group and Department of Neurology at Washington University School of Medicine. Moreover, I will learn valuable skills related to mentorship and receive training related to diversity and inclusion. A K24 grant would protect 50% effort and relieve future clinical and administrative responsibilities. The two interrelated aims of this proposal are 1) Resolve variants of unknown significance in LGMD genes. 2) Perform natural history studies related to rare muscle diseases. These aims will be achieved utilizing our existing biorepository within the Washington University School of Medicine Neuromuscular Genetics Project and the acquisition of new patients and patient material. Support through a K24 Midcareer Investigator Award in Patient-Oriented Research would come at a critical time in my career as I solidify my independent research program and increase my availability to mentor graduate students, post-doctoral fellows, residents, neuromuscular fellows and junior faculty in translational myology. Upon completion of this award, I will have integrated clinical trainees into our existing translational research infrastructure and created a successful pipeline to generate the next generation of clinician- scientists focused on muscle diseases.