MOLECULAR GENETICS AND CHILD HEALTH

拟议中的山顶儿童研究中心的总体目标 西奈医学院将为选定的年轻儿科医生 研究人员拥有智力环境和核心实验室设施，以 发展以分子遗传学为主题的基础科学研究项目 这将促进他们作为独立医生的职业发展- 调查人员。在首席调查员的指导下， 项目主任，来自各部门的一组老牌调查人员 儿科学、生物化学、生物数学、细胞生物学和解剖学， 分子生物学和神经生物学将提供基础科学研究 年轻儿科研究人员的机会与以下方面有关 儿科医学，为未来自主提供示范体系 研究项目。这些研究机会包括：1) 溶酶体贮藏病的分子遗传学，2)组织特异性基因 珠蛋白和血红素的调节以及对遗传性的研究 卟啉，3)过氧化物体组装和过氧化物体的分子研究 疾病，4)新疫苗开发的分子方法，5) 插入突变在转基因发育中的分子研究 小鼠，6)利用同源重组产生人的小鼠模型 遗传性疾病和发育缺陷，7)连锁和反向- 确定青少年肌阵挛癫痫基因的遗传学研究，8) 激素反应基因表达的研究，9)分子遗传学 生长发育中的胶原蛋白，自身免疫的分子研究， 11)发展动物模型系统中的基因治疗。共享核心 实验室将提供寡核苷酸合成、聚合酶链式反应、基因图谱和 促进年轻研究人员研究的组织培养服务；核心 实验室将具有成本效益，联席董事将提供 这些和其他分子和细胞生物学技术方面的专业知识。 为此将招聘高素质的新培训的儿科医生 来自地方和国家资金池的计划，咨询委员会将做出 授予中心儿科科学家和/或初级儿科科学家 调查人员。年轻的儿科研究员和老牌儿科医生 研究人员将参加每周一期的《分子遗传学》杂志 俱乐部和每两周一次的研究报告。这个卓越的中心 将提供智力环境和核心实验室设施，以 促进儿科研究人员的发展，他们将成为 独立并将他们在分子遗传学方面的专业知识应用于当前和 儿科医学的未来问题。此外，对这一计划的支持 将加强本部研究活动的发展 并将提供重要的科学和智力资源 为了基础和临床科学在山上的持续发展 西奈医学院。

The overall objective of the proposed Child Research Center at the Mount Sinai School of Medicine is to provide selected Young Pediatric Investigators an intellectual environment and core laboratory facilities to develop basic science research programs with a molecular genetics theme that will facilitate their career development as independent physician- investigators. Under the direction of the Principal Investigator and Program Director, a group of Established Investigators from the Departments of Pediatrics, Biochemistry, Biomathematics, Cell Biology and Anatomy, Molecular Biology and Neurobiology will provide basic science research opportunities for the Young Pediatric Investigator which have relevance to pediatric medicine and provide model systems for future independent research projects. Among these are research opportunities in: 1) molecular genetics of lysosomal storage diseases, 2) tissue-specific gene regulation of globin and heme as well as studies of the inherited porphyrias, 3) molecular studies of peroxisomal assembly and peroxisomal disorders, 4) molecular approaches to the development of new vaccines, 5) molecular studies of development by insertional mutagenesis in transgenic mice, 6) use of homologous recombination to generate murine models of human inherited disorders and developmental defects, 7) linkage and reverse- genetic studies to identify the gene for juvenile myoclonic epilepsy, 8) studies of hormonally-responsive gene expression, 9) molecular genetics of collagens in growth and development, 10) molecular studies of autoimmunity, and 11) development of gene therapy in animal model systems. A shared core laboratory will provide oligonucleotide synthesis, PCR, gene mapping and tissue culture services to facilitate young investigator research; the core laboratory will be cost effective and the Co-Directors will provide expertise for these and other molecular and cell biologic techniques. High-quality, newly-trained pediatricians will be recruited for this program from local and national pools and the Advisory Committee will make awards to the Center Pediatric Scientist and/or the Junior Pediatric Investigators. The Young Pediatric Investigators and the Established Investigators will participate in a weekly "Molecular Genetics" Journal Club and in biweekly research presentations. This center of excellence will provide the intellectual environment and core laboratory facilities to enhance the development of pediatric investigators who will become independent and apply their expertise in molecular genetics to current and future problems in pediatric medicine. Moreover, support of this program will enhance the development of research activities in the Department of Pediatrics and will provide important scientific and intellectual resources for the continued development of basic and clinical science in the Mount Sinai School of Medicine.