Functional Genomics

Research Focus 3:  Studying Human Diseases using Functional Genomics in Primary Stem Cell Models

Functional Genomics in Primary Stem Cell Models
The rapid development of next-generation sequencing technologies has greatly expanded our knowledge of the organization of the human genome. Thousands of disease-associated mutations have been identified by large-scale human sequencing efforts and a myriad of novel genomic elements have been predicted by bioinformatics. However, the majority of these newly proposed features await experimental validation in a cell-type and disease-specific context.

Towards the goal of experimental-validated functional annotation of the entire human genome, we will use CRISPR-guided mutagenesis to establish a collection of human pluripotent stem cells (hPSCs) harboring deletions and point mutations on both annotated and less-annotated genomic regions relevant for human disease. This will serve as a versatile platform to systemically assess functions of genomic features on gene regulation, cell fate control, disease ontology, etc, in multiple human cell lineages and differentiation states in authentic human genetic background.