Dr. Patricia Sullivan joins the Rokita Lab!
We are excited to announce the arrival of Dr. Patricia Sullivan as a Bioinformatics Scientist in the Rokita Lab at Children’s National Hospital (CNH) 🎉. Patricia joins us from the Children’s Cancer Institute in Sydney, where she became a leading expert in splice-altering variation in pediatric cancer and rare disease genomics.
Patricia brings deep expertise in splice variant interpretation. She played a leading role in the development of multiple computational tools to improve splice variant prediction: Introme for impact prediction and SpliceVarDB to mine and visualize experimentally validated human splice variants (codebase here). As a Fulbright Scholar at the Broad Institute, Patricia collaborated closely with variant curation experts from the Rare Genomes Project and ClinGen to improve the interpretation of splice-altering variants—critical work that supports more accurate pathogenicity classifications in clinical genomics and precision medicine.
Patricia is passionate about using genetic data to close diagnostic gaps and help more people access precision therapies. She is especially interested in complex or atypical genetic variation, with the goal of ensuring that individuals who are often missed by standard testing can receive accurate diagnoses and appropriate care.
We’re thrilled to have Patricia join our team as we continue to build tools and uncover biological insights that advance precision medicine for children with brain tumors. Welcome, Patricia! 👏