Clinical and Translational studies in muscle disease

这个K24应用程序的首要目标是促进我作为临床医生的发展 研究人员和支持对未来内科科学家的培训。我的以病人为中心的研究 兴趣涉及了解临床、病理、遗传和病理机制。 遗传性和获得性肌肉无力的基础。在这个支持下 格兰特，我将继续执行肌肉疾病患者的基因发现，增加我们的 生物信息库，解析未知意义的变异并了解表型 这些疾病的谱系。此外，我将增加我的指导责任， 研究生，住院医师，研究员和初级教员在神经肌肉 华盛顿大学医学院神经病学研究组和神经病学系。此外，我 将学习与指导相关的宝贵技能，并接受与多样性和 包容性。K24拨款将保护50%的工作，并减轻未来的临床和行政管理负担 责任。这项建议的两个相互关联的目标是：1)解决未知的 LGMD基因的意义。2)进行与罕见肌肉疾病相关的自然历史研究。 这些目标将利用我们在华盛顿大学的现有生物库来实现 医学院神经肌肉遗传学项目和获得新的患者和 病人材料。通过K24职业生涯中期研究员奖在以患者为本方面提供支持 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 计划并增加我指导研究生、博士后研究员的机会， 住院医生、神经肌肉研究员和翻译肌学初级教员。完工后 在这个奖项中，我将把临床实习生整合到我们现有的翻译研究中 基础设施，并创建了一条成功的管道，以培养下一代临床医生- 科学家们把重点放在肌肉疾病上。

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.