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Variations on a Theme: Crispr Models for 15q11-Q13 Disorders and Beyond

Barbara J Bailus

Objective: Genetic disorders involving the 15q11-q13 region in humans are complex and often exhibit a variety of mutation types that can affect multiple genes in the region. Angelman syndrome and Prader-Willi syndrome are neurodevelopmental disorders that are caused by mutations in this region. A variety of mutations, from point to large deletions are exhibited in the patient population. Although the mutations that cause several of these disorders are well understood and characterized the availability of in-vivo models that accurately reflect the high variation of mutations in individual patients has not been feasible. This review examines how applying CRISPR technology can result in more accurate models of 15q11-q13 disorders and other multiple gene disorders, including autism spectrum disorders.

Background: Previous methods of creating disease models have been cost and labor intensive making it impossible to accurately represent the variation in complex genetic disorders. The advancement of CRISPR technology has drastically changed the ease of producing in-vivo models for diseases where the mutation varies in individuals.

Methods: A review of relevant literature on Angelman syndrome, Prader-Willi syndrome, and CRISPR technology, and the implications of applying CRISPR technology to the autism field.

Results: CRISPR technology has the potential to drastically impact the 15q11-q13 disorders and autism field in the creation of more varied and accurate in-vivo models, which will advance our understanding of these diseases and potentially lead to better treatments.