GENERAL CLINICAL RESEARCH CENTER

这是一个多类别的一般临床更新的建议， 儿童和大学医院研究中心。大领域 研究包括： 1.小儿肝病。研究正在定义病理生理学， 新的先天性胆汁酸代谢和过氧化物酶体缺陷的治疗 疾病和骨疾病的发病机制和生长失败， 胆汁淤积性肝病 2.骨骼健康。研究将检查产妇年龄的影响， 哺乳对骨脱矿的影响及孕激素的作用 减轻损失。研究将评估钙的作用 补充剂对青春期前儿童骨生长的作用， 运动对学龄前儿童骨质增生的影响及其发病机制 幼年类风湿性关节炎的骨病管理。 3.癌通过拟议的组织采购使用可用资源 由GCRC、基础科学和临床研究者支持的机构 将获得肿瘤用于细胞生物学和分子生物学的研究， 恶性肿瘤的机制。研究将调查甲状腺癌， 神经肿瘤，乳腺癌，APC和Bloom综合征基因。 4.戈谢病。尽管酶研究的可用性， 戈谢病，骨病导致的残疾持续存在。研究将 评估双膦酸盐作为酶辅助剂的潜在价值 替代治疗戈谢病中的骨病。 5.囊性纤维化。研究正在确定 复制缺陷型重组腺病毒构建体以递送CF 跨膜传导基因到鼻上皮。 6.胆固醇合成研究正在评估 母乳或婴儿配方奶粉中的胆固醇含量以及 合成率，以确定是否早期暴露于胆固醇在人类 婴儿可能对胆固醇合成有"印记"作用。

This is a proposal for the renewal of a multi-categorical General Clinical Research Center at the Children's and University Hospitals. Major areas of research include: 1. Pediatric Liver Disease. Studies are defining the pathophysiology and treatment of new inborn errors of bile acid metabolism and peroxisomal disorders and the pathogenesis of bone disease and growth failure in cholestatic liver disease. 2. Bone Health. Studies will examine the effect of maternal age during lactation on bone demineralization and the value of progestins in ameliorating the loss. Studies will evaluate the role of calcium supplementation on bone accretion in prepubertal children, the role of exercise in bone accretion in preschoolers and the pathogenesis and management of bone disease in juvenile rheumatoid arthritis. 3. Cancer. Using resources available through a proposed Tissue Procurement Facility supported by the GCRC, basic science and clinical investigators will obtain tumors for investigations of the cell biology and molecular mechanisms of malignancies. Studies will investigate thyroid cancer, neural tumors, breast cancer, and the APC and Bloom's Syndrome genes. 4. Gaucher Disease. Despite the availability of enzyme research for Gaucher Disease, disability from bone disease persists. Studies will evaluate the potential value of bisphosphonates as an adjunct to enzyme replacement for the treatment of bone disease in Gaucher Disease. 5. Cystic Fibrosis. Studies are defining the safety of a replication-deficient recombinant adenovirus construct to deliver the CF transmembrane conductance gene to the nasal epithelium. 6. Cholesterol Synthesis. Studies are evaluating the potential effect of the cholesterol content in breast milk or infant formulae and cholesterol synthesis rates to determine if early exposure to cholesterol in the human infant may have an "imprinting" effect on cholesterol synthesis.