תחום מחקר: רפואת ילדים
We focus on patients, typically children, with rare, undiagnosed disorders. We try to identify their disease causing mutations, usually in new genes. Over the years we employed different technologies; now we are at the era of the EXOME. We developed tools to analyze exome analyses. On good days, we find a new gene, and link it to a disease in human. We annotate the genes and name the genetic disorders, paving the way for future cure.