MRC Wellcome Trust Human Developmental Biology Resource (HDBR)

出生缺陷发生在3%的孕妇身上，包括脊柱裂、心脏缺陷和面部裂伤等疾病，所有这些都会给孩子和家庭带来严重的医疗问题。虽然终止妊娠可以是一种选择，但最终目标是了解出生缺陷在胚胎中是如何发展的，以便提供预防措施。这些可能涉及重要的营养物质，如叶酸，或干细胞移植，这为未来的疾病治疗带来了巨大的希望。人类发育生物学资源(HDBR)提供了一系列独特的服务，为基因研究收集/分发人类胎儿材料。大多数出生缺陷发生在必要基因(S)在早期胚胎中无法发挥作用时，原因是遗传缺陷或怀孕期间的破坏性环境因素。利用HDBR材料，科学家们正在了解关键基因如何对人类发育做出贡献，以及这些基因的突变(错误)如何可能导致出生缺陷。在这里，我们寻求资金来进一步发展HDBR服务；包括提供更多的研究材料，与关注人类疾病遗传基础的新的国家倡议建立联系，以及优先让公众了解这一领域的最新进展。

Birth defects occur in 3% of pregnancies and include conditions like spina bifida, heart defects and facial clefts, all of which pose serious medical problems for the child and family. While pregnancy termination can be an option, the ultimate goal is to learn how birth defects develop in the embryo, so that preventive measures can be offered. These might involve vital nutrients like folic acid, or stem cell transplants which hold great promise for future disease treatment.The Human Developmental Biology Resource (HDBR) provides a unique range of services to collect/distribute human fetal material for genetic research. Most birth defects arise when an essential gene(s) fails to function in the early embryo, owing to an inherited defect or a damaging environmental factor in pregnancy. Using HDBR material, scientists are learning how critical genes contribute to human development and how mutations (mistakes) in these genes may lead to birth defects.Here, we seek funding to further develop the HDBR services; including an improved and expanded range of material offered for research, links with new national initiatives focusing on the genetic basis of human disease, and a priority of keeping the public informed of the latest advances in this field.