Dr. Jia: 'The annual Mutational Scanning Symposium is the best platform for the exchange of information on the newest data, project, ideas, tools, and resources related to mutational scanning research.'
Background: Xiaoyan “Isaac” Jia, PhD will be presenting at the upcoming 6th annual Mutational Scanning Symposium 2023, July 13 and 14 in the UK. Dr. Jia serves as a principal investigator with the Center for Genomic Technologies at the Greater Bay Area Institute of Precision Medicine (Guangzhou) at Fudan University in China. Dr. Jia was among one of first group recruited PIs when he joined the new research institute in November 2021. He and his colleagues – a group of young researchers currently composed of three postdocs, two graduate students, and one lab manager – develop and apply high-throughput assays to measure the functional effects of human genomic variants. Dr. Jia also works with other PIs fostering “an empowering, collaborative and well-balanced research culture.”
What is the topic of your presentation at the MSS 2023 and what would you like participants to learn from it?
I plan to talk about our deep mutational scanning system to characterize the genetic variants underlying Neurofibromatosis type II (NF2). Similar to my previous work on Lynch Syndrome genes (MSH2, MLH1), this system uses gene function-dependent drugs for negative selection (i.e., damaging variants have survival advantage) of the variant pool. Hopefully, the considerations going into the system will be informative for other scientists considering functional assays.
Why is this annual symposium important to researchers seeking to better understand the human genome?
In my opinion, the annual Mutational Scanning Symposium is the best platform for the exchange of information on the newest data, project, ideas, tools, and resources related to mutational scanning research. I strongly believe mutational scanning results provide solid building materials in our understanding of the human genome. This symposium helps inspire creative work and enables the coordination of efforts among researchers.
The theme of the 2023 symposium is “Bringing function to the genome.” What does that phrase mean to you?
To me, it means developing and applying functional assays to genomic sequence interpretation. I recognize this may be a very narrow interpretation of the phrase, and I am sure there are other interpretations that bring greater abundance to the meaning. But my research team and I are focused on this key angle for now.
EDITOR’S NOTE: Two important deadlines related to the upcoming Mutational Scanning Symposium are approaching: May 16 – abstract submission deadline; and June 13 – in-person registration deadline. Details at Wellcome Connecting Science.