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程静
2016年01月07日
 

程静,女,西南医院医学遗传中心副主任,副研究员。中华医学会医学遗传分会第八届委员会青年委员会委员。一直致力于遗传性耳聋致病基因的寻找及分子机制研究,以及相关的遗传诊断、产前诊断工作。在一个常染色体显性遗传非综合征型耳聋家系中鉴定了新致聋基因SMAC/DIABLO,并确定了该家系的致病突变(c.377C>Tp.S126L),研究提示,p.S126L 突变体相对正常对照对于外界刺激更加敏感,可引发线粒体膜电位慢性损伤,提出了致聋基因SMAC/DIABLO分子机制的假说。参与致聋新基因PRPS1和已知致聋基因WFS1POU3F4COCHEYA4MYO7AMITF新突变的发现和功能学研究工作,并将其研究成果为这些家系提供直接的临床指导和帮助,在明确病因的前提下为病人提供产前咨询和诊断。至今共发表16SCI论文,以第一作者或通讯作者在Am.J.Hum.Genet.等国际权威的遗传学期刊发表论文7篇,总影响因子超过23,单篇最高影响因子12.303

  Jing Cheng, associate researcher, deputy director of the Genetic Medical center, Southwest Hospital, First Affiliated Hospital of Third Military Medical University. From 2004 till now, Dr. Cheng have been focused on studies of genetic diseases especially in the deafness genes. Hypothesis proposed mechanism of a novel deafness gene SMAC/DIABLO localized in DFNA64, and involved in the identified and functional study of novel gene PRPS1; some novel mutations of known genes like WFS1, POU3F4, COCH, EYA4, MYO7A and MITF. Genetically diagnosis for these families to provide direct clinical guidance and assistance in the premise of a conformed clinical diagnosis for the patient to provide genetic counseling and prenatal diagnosis. To date, Dr. Cheng has published 16 papers in peer-reviewed SCI journals. In particular, she has been a first, co-first or corresponding author in 7 papers with a cumulative impact factor of 23, including one published in Am.J.Hum.Genet. with an impact factor of greater than 10.

 
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