Bioinformatics Applications in Human Disease
The lab has a variety of bioinformatics projects aimed at improving understanding of the functional impact of autism risk mutations derived from exome and whole genome sequencing of the patients. We created mouse models carrying some of these mutations using CRISPR/Cas9, and also produced patient-derived cerebral organoids with autism risk mutations. We performed bulk RNA-seq from various brain regions or time periods in these models. Gene-level analyses of RNA-seq data has been completed (manuscripts in preparation). We are now pursuing isoform-level analyses of these data to better understand functional impact of autism risk mutations on splicing isoform transcriptome.
Research in the Mesirov Lab focuses on cancer genomics applying machine-learning methods to functional data derived from patient tumors. The lab analyzes these molecular data to determine the underlying biological mechanisms of specific tumor subtypes, to stratify patients according to their relative risks of relapse, and to identify candidate compounds for new treatments. The overall goal is to treat patients as individuals specific to their tumors. Importantly, the lab is committed to the development of practical, accessible software tools to bring these methods to the general biomedical research community.
The Oncogenomics laboratory is located in the Moores Cancer Center. Its research program is focused on the identification of genetic and epigenetic markers for cancer prevention and progression as well as drug response. The laboratory is a humid laboratory, combining both wet-lab techniques and bioinformatics analysis to study cancer samples from patients and animal models of cancer. The laboratory is also an important partner for multiple principal investigators at the Moores Cancer Center, collaborating on the design, analysis and interpretation of their genomic experiments.