Boston Sickle Cell Research Consortium

“基因组时代镰状细胞治疗的新方向”会议在国家科学院举行。 2003年11月，卫生部。与会者得出结论认为，“现在是实现这一目标的有利时机。 承担基因组学的发展工具和方法，以开发明显更有效的治疗方法， 镰状细胞病”和“超过95%的受影响的个人生活在美国以外， 将基因组学应用于镰状细胞病需要全球视角和参与。“一把钥匙 建议是“一个创新的多学科镰状细胞病研究网络， 应建立良好表型患者的中心前瞻性登记处”，并且“这种登记的特征 网络可能包括：DNA、细胞系、mRNA和血浆的储存库（后两者来自个体 当有症状和无症状时），标准化的表型，开放获取材料和数据， 纵向随访和临床试验数据库。" 为了应对这些挑战，我们建议在波士顿建立一个包含医疗中心的临床核心， 法国纽黑文和巴黎。法国中心拥有近1500名特征良好的患者 并曾与波士顿调查人员合作过耶鲁中心带来了150名新的儿科患者， 我们的临床核心这两个中心都没有参与美国最近的临床试验。 我们的研究课题包括1-基础血红蛋白基因分型和红细胞表型的所有国家 镰状细胞病临床研究网络患者和生物样本转移到一个储存库 供所有研究者将来使用; 1-吸入一氧化氮治疗镰状细胞血管闭塞性贫血的I期I/I11试验 痛苦的插曲

The conference, "New Directions for Sickle Cell Therapy in the Genome Era" was held at the National Institutes of Health in November, 2003. The participants concluded that "the time is propitious to bring to bear the developing tools and approaches of genomics to develop markedly more effective therapies for sickle cell disease" and as "over 95% of affected individuals are living outside the United States, the application of genomics to sickle cell disease requires a global perspective and involvement." A key recommendation was that "An innovative multidisciplinary Sickle Cell Disease Research Network with a central prospective registry of well phenotyped patients should be established" and that "Features of such a network might include: Respositories of DNA, cell lines, mRNA, and plasma (the latter two from individuals when both symptomatic and asymptomatic), Standardized phenotypes, Open access to materials and data, Longitudinal follow-up and a Clinical trials database." To meet these challenges we propose to establish a clinical core encompassing Medical Centers in Boston, New Haven and Paris, France. The French Center has more that almost 1500 well characterized patients and has partnered before with Boston investigators. The Yale Center brings 150 new pediatric patients to our Clinical Core. Neither of these centers have participated in recent clinical trials in the United States. Our research topics include 1- basic hemoglobin genotyping and erythrocyte phenotyping of all National Sickle Cell Disease Clinical Research Network patients and the transfer of biological samples to a repository for future use by all investigators; 1-a phase I I/I11trial of inhaled nitric oxide for sickle cell vasoocclusive painful episode.