Natural History and Treatment of Niemann Pick Disease

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 拥有独立研究支持并参与患者导向研究（FOR）的研究者。与 通过这种支持，麦戈文博士将加强她在与A型相关的FOR方面的国际公认的项目。 和B尼曼皮克病（NPD），增加她对年轻研究者的指导活动，并增加 她的研究技能。她的总体目标与她在POR计划是：1）获得专业知识，指导所有 临床试验阶段，包括获得良好临床实践（GCP）的技术专业知识，2）建立在 她以前在生物化学和分子遗传学方面的培训和经验，以提高她的实验室基础 研究计划，以便更深入地研究NPD中的肺部和脂质异常，以及3） 收集与NPD中疾病表现相关的试点数据，这些数据将成为未来计划拨款的基础 应用.她的具体目标是：1）继续研究自然史和疾病表现， NPD A型和B型，并进行基因型和表型相关性; 2）获得实验室方法的技能， 评估NPD新疗法的临床疗效，包括确定疾病生物标志物的研究 严重程度，并研究疾病的肺部表现;和3）进行临床试验，以评估 酶替代疗法（ERT）治疗这种疾病的安全性和有效性。麦戈文医生 广泛参与指导年轻研究人员和制定教育计划 与临床研究有关，包括建立临床研究硕士学位课程。 她将利用这个奖项提供的保护时间：1）扩大她对年轻调查人员的指导 对遗传性疾病的POR感兴趣，包括年轻的教师和研究员，2）投入更多的时间 协助硕士学位候选人选择导师和最适合他们的教育计划 需求

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.