本科毕业于清华大学生物系，1999年获美国贝勒医学院攻读分子遗传及发育生物学博士，现任国贝勒医学院终身教授，单细胞基因组中心主任。主要从事人类视网膜遗传性疾病的研究，是世界上第一个将二代测序技术运用到该领域的团队之一。迄今已对6000多例世界各地的病人进行了分子诊断，并发现了15个新的人类视网膜遗传性致病基因。团队同时建立了多个视网膜遗传性病的小鼠模型，进行了深入的机理研究。研究成果在国际杂志上共发表论文130余篇，包括Nature, Science, Cell, Nature Genetics, AJH

Currently a Professor at Baylor College of Medicine (BCM) in the Department of Molecular and Human Genetics, I have been with BCM’s Human Genome Sequencing Center (HGSC) for almost 20 years and have been directly involved in many genome sequencing and technology development projects. I have extensive experience both in conducting wet laboratory experiments and in developing software tools. In the last five years, our group have cloned 7 novel human LCA/RP disease genes and performed extensive functional studies of the disease mechanism. In particular, our retinal disease next generation seuqencing capture panel has been used for molecular diagnosis for more than 6,000 patients with various retina diseases worldwide. As a result, we have established one of the biggest retinal patient collections that set the foundation for onging and future clinical trials. To investiage the disease mechanisms at the molecular level, numerous mouse models that mimic human retina diseases have been generated for further mechanistic studies. A combination of biochemistry, histology, physiology, and cell biology approaches has been applied to these mouse models to characterize the mechanism of gene function in retina. We have established a comprehensive pipeline and tools for systematic characterization of the mice retina, such as immunobiochemistry and histology for anatomic defects and ERG for detecting functional defects of the photoreceptor cells, and lately single cell RNA-seq and ATAC-seq. Recently, we have extended out effort to identify and establish non-human primate disease models with a combination of forward and reverse genetics approach. In addition, since 2016, I have established and served as the academic director of the Single Cell Genomics Core at BCM and performed 100s single cell related projects. Our group is currently funded by CZI as part of the Human Cell Atlas Netwrok to generate the reference cell atlas and spatial map at the single cell resolution for the human retina tissue. In addition to research, I have gained substantial experiencs in organizing and managing scientific group activities and collaborations. For example, I am the founder and serve as the chairman for the GCC Single Cell Omics Cluster, a formal scientific community with shared interests in single cell genomics technologies including over 120 faculty members from six insitutions at Texas Medicial Center, including BCM, UT-health, Texas A&M, Rice University, MD Anderson Cancer Center, and UH. I am also the founder and organizer for the monthly vision research seminar series with over 40 research gorups participating. In summary, I have a deomstrated record of innovation and productivity in research areas of direct relevance to the proposed studies.

I am the PI, Co-PI, on five funded projects, module director on a program project and a collaborator on a seventh award. All of these awards support ongoing research support to study retinal diseases.