Trainee Author: Ling-shiang Chuang, PhD
Instructor and Postdoctoral Fellow
Icahn School of Medicine at Mount Sinai
(Photo courtesy Chuang)
This study uses multiple techniques to understand disease pathophysiology, from identification of genetic variants to evaluation of their role in disease pathogenesis. The authors used exome sequencing to design a high-resolution genotyping assay specific to their patient population.
This genotyping assay was more successful than traditional GWAS because it included variants identified by sequencing that are not included on traditional arrays, most notably in/dels, leading to association of deleterious variants that would not have been identified by GWAS. They used this approach to identify risk variants and then assessed the functional consequence of those variants by in vitro studies. Their results implicate a disease mechanism of Crohn’s Disease that could differentiate subtypes of the disease, leading to better informed therapy for patients.
ASHG: Could you describe your research for us?
Dr. Chuang: In our lab, we are currently working on establishing new animal and cell models for functional studies for Inflammatory Bowel Disease genetics in the post-GWAS era. Multi-dimensional functional data were generated and analyzed through cutting-edge techniques, such as CyTOF, single-cell RNAseq, and high-content imaging.
ASHG: What are your career goals?
Dr. Chuang: My short-term goal is to find an academic position that will give me the opportunity to integrate genetic data for personalized treatment selection for patients.
ASHG: Why did you choose genetics as your field of study?
Dr. Chuang: With all the DNA, RNA, epigenetic sequencing, and disease association data available, the genetic field provides an enriched environment to understand inter-individual and/or population variations. Unfortunately, the current functional studies are often conducted with limited sample size due to time and budget constraints. I believe that it is time to improve functional validation, so we can have better biological understanding and clinical application of genetic information.
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