贾小彦 - 复旦大学 - 粤港澳大湾区精准医学研究院（广州）

个人简介

2008年本科毕业于中国农业大学，2013年取得美国Virginia Tech博士学位；Michigan大学医学院人类遗传学系博士后。2021年11月全职加入粤港澳大湾区精准医学研究院（广州）并担任青年研究员、课题组组长，组建人类遗传学与精准健康实验室（Laboratory of Human Genetics and Precision Health）。主要荣誉 2021: 美国人类遗传学会（ASHG）C.W. Cotterman Award 2021: 美国人类遗传学会（ASHG）年会Charles J. Epstein Award Finalist 2020：Keystone Symposia Scholarship, Beyond a Million Genomes: From Discovery to Precision Health 2019：Outstanding Speaker Award, Human Genetics and Genomics Gordon Research Conference 2017：Reviewer’s Choice Award，美国人类遗传学会（ASHG）年会

研究领域

随着高通量测序技术不断发展与进步，基因数据的获取已经不再是精准医学发展的瓶颈。然而每个人都携带成千上万的基因变异，如何准确解读这些变异与疾病、健康的关系，是当前精准医学面临的巨大挑战。本课题组聚焦基因组变异的精准解读，发展推动深度突变扫描（deep mutational scanning）和饱和基因组编辑（saturation genome editing）等引领性基因组技术在遗传病基因检测中的应用。将饱和突变、基于基因功能的细胞筛选、以及高通量测序与分析相结合，一次实验能准确测量成千上万的基因变异对基因功能的影响，从而规模化地为基因变异的临床解读提供坚实依据。

近期论文

查看导师新发文章（温馨提示：请注意重名现象，建议点开原文通过作者单位确认）

Jia, Xiaoyan, Bala Bharathi Burugula, Victor Chen, Rosemary M. Lemons, Sajini Jayakody, Mariam Maksutova, and Jacob O. Kitzman. 2020. “Massively Parallel Functional Testing of MSH2 Missense Variants Conferring Lynch Syndrome Risk.” American Journal of Human Genetics 108(1):163-175. Jia, Xiaoyan, Bidisha Chanda, Mingzhe Zhao, Amy M. Brunner, and Eric P. Beers. 2015. “Instability of the Arabidopsis Mutant csn5a-2 Caused by Epigenetic Modification of Intronic T-DNA.” Plant Science: An International Journal of Experimental Plant Biology 238 (September): 53–63. Jia, Xiaoyan. 2013. “Functional Analysis of Novel Protein-Protein Interactions Involving ROP GTPases in Arabidopsis Thaliana and Populus Trichocarpa”September. https://vtechworks.lib.vt.edu/handle/10919/51802 Jia, Xiaoyan, Mingzhe Zhao, Chengsong Zhao, Xiaoyan Sheng, Allan Dickerman, Eric Beers, and Amy Brunner. 2011. “Populus Biomass Protein-Protein Interactions and Their Functions.” BMC Proceedings 5 (7): O38. Jia, Xiaoyan, ZHU Hong-liang, ZHU Ben-zhong, LUO Yun-bo. 2008. “Optimization for Radioactive Electrophoretic Mobility Shift Assay System.” Journal of Agricultural Biotechnology.