Natural History and Treatment of Niemann Pick Disease

描述（由申请人提供）： 这个K24应用程序寻求支持玛格丽特M。麦戈文，医学博士，博士，一个积极的，职业生涯中期的临床研究者谁拥有独立的研究支持，并参与以患者为导向的研究（FOR）。有了这些支持，麦戈文博士将加强她在A型和B型尼曼匹克病（NPD）相关的FOR方面的国际认可计划，增加她对年轻研究人员的指导活动，并提高她的研究技能。她的总体目标与她在POR计划是：1）获得指导临床试验所有阶段的专业知识，包括获得良好临床实践（GCP）的技术专业知识，2）基于她以前在生物化学和分子遗传学方面的培训和经验，加强她的实验室研究计划，以便更深入地研究NPD中的肺部和脂质异常，3）收集与NPD中疾病表现相关的试验数据，这些数据将成为未来计划拨款申请的基础。她的具体目标是：1）继续研究NPD A型和B型的自然史和疾病表现，并进行基因型表型相关性; 2）获得实验室方法的技能，以评估NPD新疗法的临床疗效，包括研究识别疾病严重程度的生物标志物，并研究疾病的肺部表现;以及3）进行临床试验以评估酶替代疗法（ERT）对该病症的安全性和有效性。麦戈文博士一直广泛参与指导年轻的研究者和发展与临床研究相关的教育计划，包括建立临床研究硕士学位课程。她将利用该奖项提供的保护时间：1）扩大对遗传性疾病中POR感兴趣的年轻研究人员的指导，包括年轻的教师和研究员，2）投入更多的时间来协助硕士学位候选人选择导师和最适合他们需求的教育计划。

DESCRIPTION (provided by applicant): This K24 application seeks support for Margaret M. McGovern, MD, PhD, an active, midcareer clinical investigator who has independent research support and is involved in patient oriented research (FOR). With this support, Dr. McGovern will enhance her internationally recognized program in FOR related to Types A and B Niemann Pick disease (NPD), increase her mentoring activities for young investigators, and increase her research skills. Her general goals related to her program in POR are to: 1) attain expertise in directing all phases of clinical trials including attaining technical expertise in good clinical practice (GCP), 2) build upon her previous training and experience in biochemical and molecular genetics to enhance her laboratory based research program in order to study the pulmonary and lipid abnormalities in NPD in greater depth, and 3) collect pilot data related to disease manifestations in NPD that will form the basis of future planned grant applications. Her specific goals are to:1) continue to study the natural history and disease manifestations of NPD Types A and B and carry out genotype phenotype correlations; 2) attain skill in laboratory methods to assess clinical efficacy of new therapies for NPD, including research to identify biomarkers of disease severity, and to study the pulmonary manifestations of the disease; and 3) carry out a clinical trial to assess the safety and efficacy of enzyme replacement therapy (ERT) for this disorder. Dr. McGovern has been extensively involved in mentoring of young investigators and the development of educational programs related to clinical research, including the establishment of a Master's degree program in Clinical Research. She will use the protected time provided by this award to: 1) expand her mentoring of young investigators interested in POR in genetic disorders including young faculty and fellows, and 2) devote more time to assisting Masters Degree candidates in selecting mentors and an educational program that best suits their needs.