תחום מחקר: רפואת ילדים
We are involved in translational medicine looking for novel genetic etiologies for disorders in sexual differentiation and in glucose metabolism. Following the identification of a causative mutation in a novel gene we study it`s expression and the signalling pathway that is affected. This has lead in the recent years to the identification of 3 novel genes that are required for ovarian development and one for spleen development. We also found the first evidence for attributing the severity of the clinical phenotype in congenital hyperinsulinism to the level of the relative expression of the mutated allele.