Genetic disorders and gene therapy

Our bodies and cells express around 20,000 genes. The expression and function are precisely regulated to each other to maintain our healthy life. The dysregulation and dysfunction, most of which are caused by a gene mutation, lead to various diseases. Gene therapy is a treatment of dysfunctional cells by replacing the normal genes or repairing mutated genes to restore them to a normal functional state. Thus, it is expected to be an effective treatment option for patients with known disease-causing genetic mutations classified by gene diagnosis.

Gene therapy to treat retinitis pigmentosa

In parallel with stem cell therapy development, we are developing gene therapy products focusing on the functions and mutations of the genes that cause retinal diseases. For example, there are 60-70 genes reported that cause retinitis pigmentosa (RP), and the medical history of each mutation of the causal genes have been accumulated. The research team in the Laboratory for retinal regeneration (RIKEN) and the Kobe eye center hospital have been conducting gene diagnosis and genetic counseling for the RP patients with constructing a database appropriately to manage the gene mutations and the clinical information of the patients. The results of gene diagnosis would estimate not only disease progression but also the inheriting patterns. We expect that gene therapy before the onset or early RP stage effectively reduces the degeneration of photoreceptors and RPE and restores their functions.