Novel Drug Target Discovery Through Genetic Studies of Unique Inbred Communities
Introduction
Genetic studies of inbred communities have led to some of the best drug targets to date. The major advantages of such targets includes; a) identified through studies of human patients with rare monogenic variants, b) a clear direct relevance to human diseases c) in many cases, low chances of major side effects. d) orphan-diseases, allowing quicker FDA approval paths.
Our human genetics lab, headed by Prof. Ohad Birk, is well established as a world leader in the field.
The large cohorts studied, through Soroka Medical Center, are extremely inbred and well-phenotyped: The Bedouin population with ~60% cousin marriages as well as inbred Jewish communities.
Through genetic studies of these unique communities we have deciphered monogenic cases of more than 30 human diseases, identifying novel drug targets.
The Technology
The NIBN is currently sponsoring projects targeting novel identified targets, including;
- Attention deficit hyperactivity disorder (ADHD)
- Autism
- Gout
- Atrial Fibrillation
- Cancer: Glioblastoma, Breast cancer, Lymphoma, Skin cancer (specific subtypes) – through a totally novel molecular mechanism
- Various rare (orphan) diseases – some of which are common in Arabs and Jews. Including osteogenesis imperfecta and others.
Patent Status
A US provisional application was filed and several applications are currently in preparation
Principal Investigators
Prof. Ohad Birk, the Genetic Institute at Soroka Medical Center, NIBN and the Department of Microbiology, Immunology and Genetics and Prof. Ruti Parvari, NIBN and the Department of Microbiology, Immunology and Genetics, Ben-Gurion University of the Negev, Israel