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

MRC/Wellcome 人类发育生物学资源：研究人类胚胎和胎儿发育的独特资源

• 批准号: G0700089/1
• 负责人: Andrew Copp
• 金额: $ 174.17万
• 依托单位: University College London
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2008
• 资助国家: 英国
• 起止时间: 2008 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0700089%2F1
• 关键词: MRC; Wellcome; Human; Developmental; Biology

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.

出生缺陷影响约3%的怀孕，虽然终止妊娠是一种选择，但这类儿童疾病很少能治愈。出生缺陷儿童的生活往往主要是需要反复手术，对家庭和保健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。这些可能涉及，例如，确定必需营养素，如叶酸，这是目前治疗脊柱裂的一种方法。另外，干细胞移植对未来治疗许多疾病有很大的希望。当一个必需基因在胚胎和胎儿的身体和器官的构建过程中不能正常发挥作用时，就会出现出生缺陷。这可能是因为基因中的遗传缺陷，或者因为怀孕期间药物或其他损害因素的存在。因此，研究的重要第一步是精确确定基因在正常胚胎中的功能，从而提供指导疾病治疗方法发展的信息。动物研究是有价值的信息来源，但最终每个基因都应该在开发临床治疗方法之前直接在人类胚胎和胎儿中进行研究。人类发育生物学资源（HDBR）是英国唯一能够直接在早期人类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，在母亲的书面同意下，可以从终止妊娠中收集胚胎和胎儿。为复杂的基因研究准备了样本，一些材料被送往其他注册项目的实验室。迄今为止，HDBR已经收集了1，320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中使用材料所带来的新发现。我们对腭裂、阅读障碍、眼睛、肾脏和肝脏缺陷的理解已经从这些研究中取得了进展。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。这将使人们能够继续研究人类出生缺陷的基因，并开发更好的基于网络的方法，与科学家进行互动，以提高服务的实用性，同时使公众了解这一领域的最新进展。