Post-Doctoral Research Associate
My research project is on identifying rare genetic variants in type 1 diabetes (T1D) and understanding their roles in the disease pathogenesis. To identify novel rare variants, targeted sequencing that captured all the exons in the T1D-associated loci was conducted for selected T1D cases. Novel rare variants of interest were confirmed and genotyped for the samples collected by the Type 1 Diabetes Genetic Consortium and Human Biological Data Interchange. Functional studies will be conducted to understand the effects of the novel rare variants of interest on the risk for T1D.
I am interested in DNA repair pathways and the human cellular response to double strand DNA breaks. My research involves making functional alterations in known genes such as the phosphorylation sites on nibrin and observing how these mutations change the response to double strand breaks.
My research involves bioinformatic analyses of sequence-based data sets from several different projects in the laboratory. Currently, I am carrying out alignment and variant calling for targeted sequencing of the ATM and PPM1D genes in the WECARE Study of contralateral breast cancer. In addition, I am carrying out e-QTL studies using RNAseq and expression array data from various cell types isolated from type 1 diabetes patients and controls.
Identifying genes involved in conferring radiation sensitivity in human rare disease and characterizing the effects of these rare variants on gene expression, protein function and cellular radiation sensitivity.
Studies of SIRPG and its role in conferring risk for type 1 diabetes.
Post-Doctoral Research Associate (co-mentored with Dr. Lauren McIntyre
Bioinformatic analyses of RNA-Seq and microarray expression data obtained from sorted cell types from peripheral blood of T1D cases and unaffected controls.
Analysis and confirmation of variant calling from targeted sequencing of the ATM gene in the WECARE Study.