Genetics, Genomics & Evolution
Alternative splicing affects nearly all human genes. It is therefore very important that splicing is highly regulated because errors in splicing can lead to cancer and other diseases. For example, it has recently been shown that mutations in genes encoding splicing factors are major drivers in a variety of cancer types. I am interested in studying how mutations in these splicing factors contribute to cancer development and/or progression. I utilize RNA-seq in order to understand the molecular consequences of these splicing factor mutations. Ultimately, I would like to use this information to identify therapeutic vulnerabilities in cells with splicing factor mutations.