Valerie Arboleda

Dr. Arboleda’s research program studies the causal relationships between genetic variation and human disease from the clinical perspective. A major challenge in genomics is how to interpret DNA variation in the context of disease diagnosis, therapeutics, and prognosis. Interpreting how the DNA code influences human disease is an important next step in Genomic Medicine. The lab leverages a bidirectional approach, starting from genes to phenotypes and then exploring clinical phenotypes within the electronic health record and identifying novel genetic associations. Arboleda's projects use patient derived samples to develop rare-disease model systems and functional genomic approaches (RNA-seq, ATAC-seq ChIP-seq, methylation-seq) to understand molecular dysregulation cause by these mutations and identify drug targets. Her lab is also part of larger scale collaborations to explore the role of genetic ancestry with disease risk and looking at the shared genetic basis of monogenic and complex diseases.