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At the symposium, held in the first week of March in Safed, Dr. Inon Schenker, Senior Director Public Health at Teva R&D, described how Prof. Falik-Zaccai and her colleagues are making use of advanced knowledge and cutting-edge technologies in the study of rare monogenic diseases, as well as common multifactor diseases. He also highlighted how they are developing educational programs and custom genetic counseling for different Galilee ethnic populations. Research of this type, intended to identify the genetic mutations in rare genetic disease, has not yet been described in the literature. However, it promises many advantages for patients, their families and communities, in addition to the scientific community. Identifying problematic genes can lead to swift diagnosis and treatment for patients. Determining the biological basis of a disease will enable genetic counseling and diagnosis, leading to prevention of serious disease in affected families. Since many Galilee communities are characterized by inbreeding, there is a higher incidence of genetic modifications in these communities. Identifying the genetic cause of disease therefore allows entire communities to benefit from diagnostic services and testing of at-risk couples during pregnancy. “This research contributes greatly to the understanding of the biological mechanisms essential to human health and the development of novel therapeutic approaches," states Prof. Falik-Zaccai.
During the symposium, Dr. Elliott lectured about autism and highlighted recent epidemiological studies that indicate that autism is 50% genetic in origin. Other issues such as environmental factors have an equal contribution to the development of autism. Dr. Elliott noted that some of the environmental factors contributing to the development of autism remain unknown, while additional primary factors, including maternal immune system function and microbiome content, have received significant attention. Researchers are working to identify the environmental factors that may be involved in the development of autism, and the biological mechanisms that are disrupted and that result in autistic behavior. Scientific breakthroughs in this area, says Dr. Elliott, will require a combination of epidemiological and biological data from large groups of people with autistic spectrum disorders.“Thanks to the important contribution of Teva, we will be able to establish a national registry of people with autism spectrum disorders in Israel and collect tissue samples. Analysis of these samples will enable identification of environmental factors, as well as biological pathways that are disturbed. This will lead to the identification of therapeutic targets. This information is essential to promote study in this field, and to find a treatment for autism spectrum disorders", stated Dr. Elliott.