From single-base changes to structural changes, from rare variants to common variants, we are developing methods to identify and integrate the impact of all genetic data. Our goal is to be able to assign a probability to the function of a variant irrespective of whether it has previously been observed in the population. Current research activity in the lab has involved understanding the origins and functional impact of insertion deletion polymorphism on gene expression phenotypes and investigation of rare genetic effects on gene expression in undiagnosed disorders and large families. We are currently collaborators within the NIH Undiagnosed Disease Network, Care4Rare and ENCODE4 consortia.
We aim to identify the history and impact of regulatory variants influencing gene expression. Specifically, we aim to improve our understanding of how variants influence gene expression in isolated populations. We have analyzed HGDP, HapMap, 1000 Genomes Project and SardiNIA gene expression and genetic data to understand population differentiation of regulatory variation and the impact of gene expression on disease in these populations. We are part of the project team for the SardiNIA project.
Understanding the impact of disease starts by understanding its impacts at a cellular level. We use functional genomic and genetic data to profile multiple healthy and diseased tissue samples to understand how genes influence and stratify disease type, onset and severity. Our focus has been on understanding the genetics of gene expression in health and disease. We are a part of the statistical analysis working group and extended data collection group of the NIH's Genotype Tissue Expression (GTEx) project. We are also a part of the NIH's MoTrPAC (Molecular Transducers of Physical Activity Consortium) where we are seeking to map molecular changes in response to physical activity.
Exosomes are small extracellular vesicles which play an important role in intercellular communication and disease pathogenesis. Despite their potential importance, very little is known about human population variation in exosome biology. Fundamental questions as to differences in exosome production rates (kinetics), size and cargo (miRNA and mRNA) between individuals are still to be answered. Current research activity in the lab is focused on answering these questions by profiling exosomal miRNA and mRNA in human cohorts.