MRC Wellcome Trust Human Developmental Biology Resource (HDBR)

MRC 威康信托人类发育生物学资源 (HDBR)

• 批准号: MC_PC_15004
• 负责人: Susan Lindsay
• 金额: $ 187.59万
• 依托单位: Wellcome Trust
• 依托单位国家: 英国
• 项目类别: Intramural
• 财政年份: 2013
• 资助国家: 英国
• 起止时间: 2013 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MC_PC_15004
• 关键词: MRC; Wellcome; Trust; Human; Developmental

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.

出生缺陷发生在3%的怀孕，包括脊柱裂，心脏缺陷和面部裂缝等疾病，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如何在胚胎中发展，以便提供预防措施。这些可能涉及重要的营养素，如叶酸，或干细胞移植，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）提供了一系列独特的服务，收集/分发人类胎儿材料进行遗传研究。大多数出生缺陷是由于遗传缺陷或怀孕期间的有害环境因素导致胚胎早期的一个或多个必需基因无法发挥作用而引起的。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，以及突变如何影响人类发育。在此，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，与新的国家倡议建立联系，重点是人类疾病的遗传基础，并优先让公众了解这一领域的最新进展。

项目成果

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

GPR56的进化动态替代剪接调节区域脑皮质模式。

• DOI: 10.1126/science.1244392
• 发表时间: 2014-02-14
• 期刊: Science (New York, N.Y.)
• 作者: Bae BI;Tietjen I;Atabay KD;Evrony GD;Johnson MB;Asare E;Wang PP;Murayama AY;Im K;Lisgo SN;Overman L;Šestan N;Chang BS;Barkovich AJ;Grant PE;Topçu M;Politsky J;Okano H;Piao X;Walsh CA
• 通讯作者: Walsh CA

The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon.

• DOI: 10.1093/cercor/bhx185
• 发表时间: 2017-10-01
• 期刊: Cerebral cortex (New York, N.Y. : 1991)
• 作者: Alzu'bi A;Lindsay SJ;Harkin LF;McIntyre J;Lisgo SN;Clowry GJ
• 通讯作者: Clowry GJ

The early fetal development of human neocortical GABAergic interneurons.

• DOI: 10.1093/cercor/bht254
• 发表时间: 2015-03
• 期刊: Cerebral cortex (New York, N.Y. : 1991)
• 作者: Al-Jaberi N;Lindsay S;Sarma S;Bayatti N;Clowry GJ
• 通讯作者: Clowry GJ

Ibuprofen results in alterations of human fetal testis development.

• DOI: 10.1038/srep44184
• 发表时间: 2017-03-10
• 期刊: Scientific reports
• 影响因子: 4.6
• 作者: Ben Maamar M;Lesné L;Hennig K;Desdoits-Lethimonier C;Kilcoyne KR;Coiffec I;Rolland AD;Chevrier C;Kristensen DM;Lavoué V;Antignac JP;Le Bizec B;Dejucq-Rainsford N;Mitchell RT;Mazaud-Guittot S;Jégou B
• 通讯作者: Jégou B