The research demonstrates that gene therapy may be effective in treating rare and hereditary diseases, even those affecting a small number of individuals.
While extensive studies have been conducted on diseases affecting large populations, such as cancer and heart disease, rare diseases impacting only a few individuals have received less attention. Among these are several rare hereditary diseases, including DOOR syndrome, prevalent in Canada and the Middle East.
For many hereditary rare diseases lacking a cure, gene therapy emerges as a potential solution. Professor Magnar Bjoras from the Norwegian University of Science and Technology (NTNU) has established a research team conducting basic research on rare hereditary diseases with the long-term goal of developing new therapies.
DOOR syndrome, a rare congenital disorder marked by multiple abnormalities, is among the diseases without a current cure. The syndrome, caused by a deficiency in the OXR1 (OXidation Resistance gene 1) protein, results in brain cells failing to develop properly, leading to dysfunction or death.
To explore potential preventative measures, the research team, led by Magnar Bjoras, conducted tests on mini-brains grown in their lab. The team has been cultivating mini-organs since 2018, utilizing them to test drugs and gene therapy.
To create mini-brains for DOOR syndrome research, the team transformed skin cells from individuals with the disease into embryo cells. These cells were then reversed to a fetal stage in the lab, resembling the initial cells forming in humans. Stem cells derived from this process were used to generate mini-brains for further study.
