Elucidation of novel molecular pathways through studies of monogenic diseases
Genetics Institute, Ben Gurion University of the Negev and Soroka Medical Center, Israel
Through human genetics studies of mostly consanguineous kindreds we identify the molecular basis of monogenic human diseases. Based on these findings, we continue in-house with downstream studies using molecular biochemistry and cell culture, as well as generation and analysis of mutant mouse, zebrafish and Drosophila disease models, allowing us to identify novel molecular pathways of human diseases and of normal human development. Examples of some of the novel pathways unraveled through studies of the ~50 human diseases delineated in our lab will be discussed.