MRC Wellcome Trust Human Developmental Biology Resource (HDBR)

出生缺陷发生率为3%，包括脊柱裂、心脏缺陷和面部裂，所有这些都会给孩子和家庭带来严重的医疗问题。虽然终止妊娠是一种选择，但最终目的是了解出生缺陷是如何在胚胎中形成的，以便提供预防措施。这些可能涉及像叶酸这样的重要营养素，或者干细胞移植，这对未来的疾病治疗有很大的希望。人类发育生物学资源（HDBR）为基因研究收集/分发人类胎儿材料提供了独特的服务范围。大多数出生缺陷是由于遗传缺陷或怀孕期间有害的环境因素导致一个基本基因在早期胚胎中不能发挥作用而产生的。利用HDBR材料，科学家们正在了解关键基因如何促进人类发育，以及这些基因的突变（错误）如何可能导致出生缺陷。在这方面，我们寻求资金以进一步发展HDBR服务；包括改进和扩大为研究提供的材料范围，与以人类疾病的遗传基础为重点的新的国家倡议建立联系，并优先向公众通报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.