GENE DROP

Rare genetic diseases continue to be one of the biggest problems of humankind in the 21st century. As the increasing world population increases the heterogeneous distribution over the allele frequency negatively in developing and underdeveloped countries, diseases associated with homozygous single point mutation increase the risk factor multiplier for each new birth. CRISPR-based genome editing tools are one of the promising approaches to rare diseases. Recently, Prime Editing and Base Editing systems, which are independent of double-strand breakage, have been added to the literature, which visibly reduce off-target activity, which constitutes the biggest limitation in CRISPR techniques. Glycogen Storage Disease Type Ia, one of the rare genetic diseases also occurs due to homozygous single point mutations, so it is one of the diseases that new generation genome editing techniques such as Prime Editing and Base Editing can correct. Although it is possible to use it for the treatment of GSD Type Ia, the development of new generation regulation tools in integration with appropriate methods and innovative systems will increase the efficiency result. Thanks to this method, which includes a series of experimental combinations that we call enhanced new generation genome editing tools, a new perspective will be created for more than one mutation, a suitable and effective approach to the treatment of rare genetic diseases with similar experimental setups. At the end of the process, a substantial amount of data will contribute to developing the next generation genome editing tools further. In addition, the selection and development of the most effective approach for in vivo delivery of developed new generation genome editing tools are one of the main focuses of the project. Our ultimate goal is to create a product that can be effective as a medicine for GSD Ia treatment and has passed quality control.