Yaacov Frishberg Shaare Zedek Medical CenterIsrael

Yaacov Frishberg, born in Israel, obtained his MD degree from the Hebrew University of Jerusalem and completed a residency in Pediatrics at the Beilinson Medical Center (Petah Tikva, Israel) followed by a fellowship in Pediatric Nephrology at the Children’s Hospital of Philadelphia, USA. He is a Professor of Pediatrics at the Hebrew University of Jerusalem and formerly the Director of the Division of Pediatric Nephrology at the Shaare Zedek Medical Center in Jerusalem, Israel. His research has focused on hereditary kidney diseases in childhood including kidney stone disease, nephrotic syndrome and mitochondrial cytopathies. His group described a new form of primary hyperoxaluria, namely primary hyperoxaluria type 3, delineating the clinical characteristics and the genetic basis of the disease. They have also described a new form of multi-system mitochondrial cytopathy, named HUPRA syndrome (HyperUricemia, Pulmonary hypertension, Renal failure, Alkalosis) due to bi-allelic mutations in the mitochondrial seryl-tRNA synthetase.