Ben Jussila, one of our in-house zebrafish experts, presented his poster “Zebrafish modeling for the clinic: Rapid in vivo functional testing of patient variants for clinical applications” at ASHG and won the Reviewers’ Choice Award in the category of Precision Medicine, Pharmacogenomics, and Genetic Therapies. His poster discusses how we use zebrafish as an in-vivo model to measure the functional effects of patient-derived genetic variation and takes a closer look at a proof-of-concept study we did targeting an Stxbp1a-a zebrafish ortholog of human gene syntaxin-binding protein 1 (STXBP1) to model variant genetic contributions to pediatric epilepsy and encephalopathy.
Image extracted from the full poster
To view the entire poster, you can download it here.
