Rui Chen Lab


About the Lab

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With over 30 million variants in the human genome, which ones are important? Through the lens of human variation and diseases, we focus on advancing our ability to identify, assess, and predict variants with functional consequences using an interdisciplinary approach.

Our laboratory uses innovative genetics and genomics, single cell omics, computational, and imaging tools to understand the connection between genetic variants and human diseases, using the visual system as the model. Our research is in the following areas:

  • Identify genes and mutations underlying human diseases.
  • Systematically predict and assess the function consequence of genetic variants across the genome.
  • Investigating the changes in transcriptome and epigenome during development and under disease condition at single-cell resolution.
  • Developing novel therapeutics, including gene therapy, genome editing, and neural regeneration, for treating the diseases.