Our lab is interested in the design and application of translational bioinformatics tools to help bring whole-genomic data to the point of clinical care. Our current area of focus is autism. Additional areas of interest include breast cancer, melanoma, lung and prostate cancer. We are developing new techniques for the analysis of whole-genomic data, including fully sequenced tumor genomes and companion whole-genomic transcriptional assays, so that these data can be rapidly transformed into clinically actionable reports that yield prognostic predictions, drive decision support for alternative lines of therapy, and other medically actionable outcomes.
As part of this work, we are currently building a database of somatic and germline variants of known or probable clinical impact. This line of research is designed to complement and potentially supplant standard molecular diagnostics currently being used to characterize patients, with the intent to have a faster and more robust system in place for real-time genomic diagnostics. Also as part of this effort, I co-direct and co-teach courses in the analysis and clinical interpretation of next-generation sequence data and whole-genome analysis.
My lab is also comparing what is known about the genetics of autism with the genetic systems of other behaviorally related neurological disorders. One basic hope is that we will find “usual suspects” that have significant implications for neurological malfunction. A grander hope is that the work will result in a clearer genotype-phenotype map for autism, i.e. that it will enable us to circumscribe sections of the genetic landscape of autism that cause epilepsy, seizure disorder, schizophrenia, etc., thereby leading to a set of genetic markers that can be used for diagnosis/prognosis.
We are also hoping to level the playing field to enable all autism researchers to tap into the benefits of computational systems biology for deciphering the genetic map of autism – by making our informatics approaches and results accessible through various web applications. Check out our projects page to learn more!