儿科遗传性疾病分子诊断与研究北京市重点实验室于2014年在北京市科委严格审批下成立的儿科遗传性疾病分子诊断与研究平台,是依托于北京大学第一医院建立的儿童遗传病诊治中心，本重点实验室于2017年3月顺利通过了北京市科委的绩效考评,仍然继续作为本领域的重点实验室进行深入研究,最终的目标是建设成为国家一流、国际知名的儿科遗传性疾病分子诊断与研究实验室,完善我国儿科遗传病分子诊治体系、寻找新有效治疗策略、获得具有自主知识产权的原创性成果。

　　研究领域及方向为：已知致病基因的儿科遗传性疾病的新分子诊断方法建立、基因型-表型分析及随访研究；儿科遗传性疾病相关遗传变异的致病机制;儿科遗传性疾病的新致病/易感基因的确定。

　　本实验室拥有一支实力雄厚的科研队伍，包括：教授、研究员、副教授与助研等共计35人，其中70%拥有博士学位及海外留学经历。其中具有正高职称的12人，副高级职称的7人。本重点实验室位于北京大学第一医院内，占地面积1550平方米，拥有完善进行细胞生物学实验，分子生物学实验和神经生物学实验的全套设备，共计价值1565万元，其中大于等于50万元以上的大型设备4套，共343万元。2017年本团队获得两项国家级奖励，包括中华医学科技奖二等奖和中华预防医学会科学技术奖三等奖。

　　近年来，实验室产出了一系列的科研成果。举两个例子：我们发现了NIPA2，一个编码特异性镁离子转运体的基因，是儿童失神癫痫的易感基因。从而提出NIPA2的单倍剂量不足可能是15q11.2微缺失的致病因素。另外，我们还发现SCN8A基因（一种钠离子通道基因）突变引起的小儿癫痫中，有相当比例的患儿可以被钠离子阻断剂有效治疗，这个发现很有临床指导价值。因为钠离子阻断剂这类药物是被禁止使用于SCN1A基因（另外一种钠离子通道基因，其突变是导致癫痫的一个最重要的因素）突变的患儿的，因为它会使病情恶化。

　　

　　机构负责人：姜玉武

　　联系人：王静敏

　　邮箱：wang66jm@163.com

　　电话：83573238

　　地址：北京市西安门大街1号

　　

　　

　　Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases

　　Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases is a pediatric inherited disease molecular diagnostics and research platform, which was approved by Beijing Municipal Science and Technology Commission on 2014.  This laboratory is relying on the pediatric genetic disease treatment center of Peking University First Hospital. In March 2017, the key laboratory passed the performance appraisal by Beijing Municipal Science and Technology Commission, which will still continue to be key laboratory of molecular diagnosis and study on pediatric genetic diseases. The ultimate goal of our laboratory is to build a first-class, internationally renowned pediatric inherited disease molecular diagnostics and research laboratory, to improve the molecular genetic diagnosis and treatment system of pediatric diseases in China, to get the original achievements with independent intellectual property rights, and to find new effective treatment strategies.

　　Research fields and directions：

　　1. New method establishment of diagnose of pediatric genetic diseases, genotype-phenotype studies of pediatric genetic diseases.

　　2. Study of the pathogenic mechanism of genetic variation pediatric genetic diseases.

　　3. Determination of new pathogenicity / susceptibility genes in pediatric genetic diseases.

　　The laboratory has a strong research team, including professor, researcher, associate professor and assistant researcher. There are 35 people in this group, of which 70% have PhD degree or overseas experience. Among them, there are 12 people with Senior professional post, and 7 with the deputy senior titles. The key laboratory in Peking University First Hospital, which covers an area of 1550 m2, with a complete set of equipment for cell biology experiments, for molecular biology experiments and neurobiology experiments. The total value of these equipment is about 15 million 650 thousand yuan.  In 2017, the team won two national awards, including the second prize for the Chinese medical science and Technology Award and the third prize for the science and technology award of the Chinese Society for preventive medicine.

　　In recent years, we have a series of scientific research achievements. Two examples: First, We first identified that NIPA2, encoding a selective magnesium transporter, is a susceptible gene of childhood absence epilepsy. The haploinsufficiency of NIPA2 may be a mechanism underlying the neurological phenotypes of 15q11.2 microdeletions. Second, we found that a significant proportion of children with epilepsy caused by the mutations of SCN8A gene (one of sodium channel genes) can be effectively treated by sodium channel blockers(SCBs). This finding is of great clinical value. Because SCBs are forbidden to use in the SCN1A gene (another sodium channel gene, the most important gene in epilepsy), it will make the disease worse in children with SCN1A mutations.

　　

　　Director of the Laboratory: Jiang Yuwu

　　Contact: Wang Jingmin

　　E-mail: wang66jm@163.com

　　Phone: 83573238

　　Address: No. 1, Xi'an men Street, Beijing