Investigation of Humans with Informative Iron or Erythroid Phenotypes.

总结：需要使用新技术进行临床研究，以连接红细胞生物学和相关铁生物学的基础和临床知识，与NIH的路线图目标一致。这些研究应该加强校内项目的临床活动，以及针对红系疾病的合作研究。目前的重点包括招募和研究血红蛋白病患者，持续胎儿血红蛋白生产，铁缺乏和铁过载。此外，招募具有其他罕见表型的患者志愿者用于研究。除了临床评估外，还采集血液样本用于实验室和研究目的。该项目的一个主要重点是临床表型与遗传和基因组分析的整合，旨在实现新的诊断，预后和治疗方法。除了在校内看到的病人外，还在这方面开展国家和国际合作项目。

Summary: Clinical studies with new technologies are needed to bridge basic and clinical knowledge of erythroid biology and related iron biology consistent with Roadmap goal of the NIH. These studies should enhance clinical activities within the intramural program, as well as collaborative research aimed toward erythroid diseases. The current focus includes recruitment and study of patients with hemoglobinopathies, persistent fetal hemoglobin production, iron deficiency and iron overload. In addition, patient volunteers with other rare phenotypes are recruited for study. In addition to clinical assessment, blood samples are collected for laboratory and research purposes. One major focus of this project is the integration of clinical phenotype with genetic and genomic analyses aimed toward novel diagnostic, prognostic, and therapeutic approaches. In addition to patients seen on the intramural campus, national and international collaborative projects are being pursued in this regard.