Xiaofei (Bai) Bai

Approximately 7000 rare (orphan) diseases have been identified in humans, and around 80% of these diseases are associated with a single gene, while the molecular mechanisms and effective treatments for a majority of those diseases have not been clearly defined and developed. The nematode C. elegans contains ortholog of the majority of disease genes. Precision modeling these pathogenic variants of rare diseases in C. elegans has uncovered a better understanding of the cellular and molecular mechanisms as well as revealed novel therapies based on drug and genetic suppressor screens. In my lab, we aim to identify genetic suppressors of patient-specific alleles, including those associated with the mechanosensor PIEZO and the lipid-droplet protein SEIPIN, using C. elegans as a model. We will take advantage of CRISPR/Cas9 genome editing and whole-genome sequencing to conduct large genetic screens in a short time period. These screens will identify new interactors and genetic pathways that can suppress the phenotypes of the patient-specific missense alleles. Additionally, these studies will help determine the functions of these putative suppressors and their relationship with disease-associated genes, as well as their contributions to physiological processes in other model systems.

Xiaofei Bai, Harold E. Smith, Luis O Romero, Briar Bell, Valeria Vásquez, and Andy Golden. Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in C. elegans. Development, 2024. 151, PMID: 38349741. Xiaofei Bai#, Harold E. Smith, and Andy Golden. Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in C. elegans. Disease Models & Mechanisms. 2024. https://doi.org/10.1242/dmm.050524