MRC/Wellcome Human Developmental Biology Resource: a unique resource for studies of human embryo and fetal development

出生缺陷影响了大约3%的怀孕，虽然终止妊娠可以是一种选择，但这种类型的儿童疾病很少能被治愈。出生缺陷儿童的生活往往被重复手术的需要所主导，这对家庭和医疗服务提出了沉重的要求。目前研究的一个优先事项是开发新的治疗方法来纠正出生缺陷。例如，这些可能涉及识别基本营养素，如叶酸，这是目前治疗脊柱裂的一种方法。或者，干细胞移植为许多疾病的未来治疗带来了巨大的希望。在胚胎和胎儿的身体和器官的构建过程中，当一个必要的基因不能正常发挥作用时，就会出现出生缺陷。这可能是因为基因的遗传缺陷，也可能是因为怀孕期间存在药物或其他破坏性因素。因此，研究的关键第一步是准确确定基因在正常胚胎中的功能，从而提供信息来指导疾病治疗的发展。在动物身上的研究是有价值的信息来源，但最终每个基因都应该在人类胚胎和胎儿中直接研究，然后才能开发临床治疗方法。人类发育生物学资源(HDBR)是英国唯一能够直接在人类早期胚胎和胎儿中研究基因及其功能的服务。HDBR的工作人员已经获得伦理委员会的批准，在获得母亲的书面同意的情况下，可以收集终止妊娠的胚胎和胎儿。样本被准备用于复杂的基因研究，一些材料被送往其他注册项目的实验室。到目前为止，HDBR已经收集了1320多个样本，并向科学家提供了数百个样本。此外，还发表了69篇科学论文，描述了在HDBR中使用材料所产生的新发现。这些研究已经在我们对腭裂、阅读障碍以及眼、肾和肝缺陷的理解方面取得了进展。在这项申请中，我们正在寻求五年的资金，以继续发展HDBR服务。这将有助于继续研究人类出生缺陷的基因，并开发改进的基于网络的与科学家互动的方法，以提高服务的有效性，同时让公众了解这一领域的最新进展。

Birth defects affect around 3% of pregnancies and, while pregnancy termination can be an option, very few childhood diseases of this type can be cured. The lives of children with birth defects are often dominated by the need for repeated operations, making heavy demands on families and the health service. A priority for current research is to develop new treatments to correct birth defects. These might involve, for example, the identification of essential nutrients like folic acid, which is a current treatment for spina bifida. Alternatively, stem cell transplants hold great promise for future treatments of many diseases. Birth defects arise when an essential gene fails to function normally during the construction of the body and organs of the embryo and fetus. This can be because of an inherited defect in the gene, or because of the presence of a drug or other damaging factor during pregnancy. An essential first step for research, therefore, is to determine precisely how genes function in the normal embryo, thereby providing information to guide the development of treatments for disease. Studies in animals are valuable sources of information, but ultimately every gene should be studied directly in human embryos and fetuses before clinical treatments can be developed. The Human Developmental Biology Resource (HDBR) is the only service in the UK that enables studies of genes and their function directly in early human embryos and fetuses. Staff of the HDBR have obtained ethics committee approval to collect embryos and fetuses from terminations of pregnancy, with the written consent of the mother. Samples are prepared for sophisticated gene studies, with some material being sent out to other laboratories with a registered project. To date, more than 1,320 samples have been collected by the HDBR and many hundreds have been provided to scientists. Moreover, 69 scientific papers have been published, describing new discoveries resulting from use of material in the HDBR. Advances in our understanding of cleft palate, dyslexia, and eye, kidney and liver defects have already resulted from these studies. In this application, we are seeking five years funding to continue to develop the HDBR service. This will enable continuing studies of genes for human birth defects, as well as developing improved web-based methods for interacting with scientists to enhance the usefulness of the service, while keeping the public informed of the latest advances in this field.