Akademik Veri Yönetim Sistemi
European Biotechnology Congress 2024, İstanbul, Türkiye, 3 - 05 Ekim 2024, ss.1, (Özet Bildiri)
Research on rare diseases with low prevalence, often suffers from a lack of sufficient patient samples, hindering comprehensive exploration of symptom pathogenesis. Particularly, rare genetic diseases that manifest neurodevelopmental phenotypes pose unique challenges for both diagnosis and therapeutic intervention. These disorders are frequently driven by loss of function mutations in specific genes, and exhibit a wide spectrum of clinical manifestations, making their study and treatment particularly complex. Genetically engineered mouse models aka transgenic mice are indispensable tools to study the underlying mechanisms of human diseases, conduct preclinical research, and develop potential therapeutic strategies. Our platform develops genetically engineered mouse models by CRISPR genome editing in mouse embryos. We have created a multitude of knockin/knockout mouse models for rare genetic diseases as well as for fundamental biomedical research. I will explain our approach in CRISPR genome editing and subsequent phenotypic characterization of mutant mice, and discuss two of the models we have developed. One of these models has been genetically humanized to mimic Rahman syndrome, an epigenetic rare disease, whereas the other carries multiple knockout mutations to allow humanization of its liver by repopulation with human hepatocytes.