Prof. Tzipora Falik-Zaccai received her MD from the Technion and is currently the Director of the Institute of Human Genetics, Western Galilee Hospital in Nahariya, an affiliate hospital of Bar-Ilan University’s School of Medicine in the Galilee. The partnership of Prof. Falik-Zaccai’s institute with the laboratories at BIU’s School of Medicine offers a unique translational medicine environment for addressing a range of genetic disorders.
Prof. Falik-Zaccai’s team searches for genes responsible for various rare genetic disorders and investigates the biochemical and molecular basis for the disorder through studying the related protein function and biological pathway. Very often, patients benefit immediately from Prof. Falik-Zaccai’s research, which is used to develop new diagnostic tools for their families and communities, together with new biological and/or pharmaceutical insights.
Annual Activity Report, March 2017
We focus our scientific work on the identification of causative genes and genetic variants for rare genetic diseases that are common among the unique, highly consanguineous Galilee and Golan Heights populations. Our work provides the option for personalized medicine to individuals from different ethnic groups, religions and villages in northern Israel.
The work begins in the medical genetics clinics where patients are tested and characterized for any previously unrecorded genetic disorder, perhaps a very rare one. We have already discovered and reported disease-causing genes and genetic variants that have never been studied before, and we continue to do so with this highly unusual population. The disorders shed light on basic and important processes in which proteins take part, thus broadening our understanding of their contribution and importance to normal, healthy life.
We have recently identified and published two novel genes; PLAA is one gene that, in carrying a pathogenic variant, causes progressive leukoencephalopathy with severe mental retardation, spasticity and progressive microcephaly.
The second gene PPP1R13 was first reported by us as causing a novel fatal form of cardio-cutaneous syndrome due to an uncontrolled inflammation in the heart of the affected babies. Since the identification of these two genes genetic counseling and prenatal diagnosis have been offered to family members, and population screening has been established for populations at risk, funded by the government. Our work has contributed significantly to the prevention of these two devastating diseases among the Moslem and Druze populations.