Boston Comprehensive Sickle Cell Center

描述（由申请人提供）：波士顿综合镰状细胞中心（BCSCC）在过去六年中进行了重大重组。在这个竞争性的更新申请中，虽然核心中心领导保持不变，但我们选择通过在方向上做出重大改变来建立BCSCC可用的研究人员的优势。我们坚持认为，个体研究者项目仍然是BCSCC使命的重要组成部分，因此我们为BCSCC引入了新的研究者，重新调整了我们的实验室和临床研究活动，包括患者服务研究，胎儿血红蛋白（HbF）诱导的转化研究，进一步了解红细胞密度调节的遗传基础，并研究葡萄糖-6-磷酸脱氢酶（G6PD）的作用和内皮细胞活性的调节。我们能够在目前的预算限制下做到这一点，因为我们所有的项目调查员都有独立的R01或同等的支持，为建立中心活动提供了重要的基础设施。我们还将在过去成功招募患者进行合作临床试验的基础上，提出一项旨在预防维生素D缺乏症及其导致的骨病的临床试验。

DESCRIPTION (provided by applicant): The Boston Comprehensive Sickle Cell Center (BCSCC) saw major reorganization over the past six years. In this competitive renewal application, while core center leadership remains unchanged, we have elected to build on the strengths of investigators available to BCSCC by making major changes in direction. We maintain the belief that individual investigator projects remain a critical part of the BCSCC mission and therefore have brought new investigators into the BCSCC, refocusing our bench and clinical research activities to include patient services research, translational studies of fetal hemoglobin (HbF) induction, further our understanding the genetic basis of red cell density regulation and examine the role of glucose-6-phosphate dehydrogenase (G6PD) and the modulation of endothelial activity. We are able to do this under current budget restaints because all of our project investigator have independent R01 or equivalent support that provides an important infrastructure upon which to build center activities. We will also build on our past successes in patient recruitment for collaborative clinical trials and we propose a clinical trial aimed at the prevention of hypovitaminosis D and its resulting bone disease. Specific Aims: 1. Carry out novel therapeutic trials in sickle cell anemia and HbSC disease by assembling a large Clinical Core of patients as candidates for Phase I and II clinical trials 2. Conduct innovative studies of: the genetic determinants of sickle erythrocyte hydration; endothelial function and G6PD deficiency; HbF induction by a novel oral agent; improving the delivery of comprehensive preventive services for children with sickle cell disease; and, improving bone health with vitamin D and calcium treatment 3. Provide high quality clinical care for all BCSCC patients with education and counseling for patients, education and research training for medical professionals and genetic testing for hemoglobinopathies 4. Meld the components of the BCSCC into a cohesive system to increase its effectiveness beyond the sum of its individual projects, encouraging interactions with other regional and national sickle cell centers.