Prof. Tzipora C. Falik-Zaccai is a full Professor of Medical Genetics & Pediatrics and the founder and Director of the Institute of Human Genetics at the Galilee Medical Center, The Azrieli Faculty of Medicine, Bar-Ilan University. Board certified in Pediatrics (Israel) and Medical Genetics (Israel and the USA), she is a member of the R&D committee and Ethics committee at The Galilee Medical Center where she was elected as the outstanding physician for the year 2009. Prof. Tzipora Falik-Zaccai serves a variety of roles in the Azrieli Faculty of Medicine-Bar Ilan: She is the vice dean for medical research directing the human genetic division at the Faculty, and until recently directing the MD PhD program for excellent students. She is the mentor of post graduate students and residents in basic science projects. Prof. Falik-Zaccai has directed her research toward the identification of the causative genes of rare genetic diseases. She and her team also devote their time towards the development of tailored genetic counseling in different ethnic groups, at high risk for genetic disorders and birth defects. This service is aimed at educating, preventing and minimizing the personal burden of birth defects and rare disorders for the benefit of all ethnic communities in Northern Israel. Prof. Falik Zaccai has established a national center for CTX where the patients are diagnosed and followed by a multidisciplinary team including a metabolic geneticists, endocrinologist, neurologist, ophthalmologist, and social worker. She is following around 25 patients with vast experience in pediatric patients. She developed a screening program for populations at risk for CTX and studies several aspects of the disease including developing newborn screening program with Andrea De Barber PhD, studying pregnant women with CTX, and studies to understand the natural history of the disease. She was honored to open a research center for the study of rare human genetic diseases granted to Bar Ilan University by Teva pharmaceuticals. Prof. Falik-Zaccai has published many scientific papers in various leading international Journals in the field of Pediatrics, Medical and Molecular Genetics and presented her work in national and international meetings.