In Collaboration with Global Research Institutions, Including Saudi Universities and Hospitals
A new study led by scientists from King Abdullah University of Science and Technology (KAUST) has identified that the gene CIROZ plays a role in causing congenital heart defects and organ positioning disorders in children. These findings were achieved in collaboration with several global research institutions, including Saudi universities and hospitals.
The study provides new insights into genetic disorders, which are recorded at higher rates in Saudi Arabia compared to global averages.
Professor Bruno Reversade, a faculty member at KAUST, was part of a team of scientists and medical professionals from leading hospitals and research institutions in the region. In an article published in the prestigious journal Nature Genetics, the researchers provided a new perspective on the impact of the unique demographic structure of the Middle East.
The paper discusses the discovery of multiple genes associated with hereditary diseases through studying populations in the region. In a complementary research paper, and in collaboration with the same group of scientists from Saudi Arabia, Reversade led an international team of researchers from 13 countries. Their findings, published in the American Journal of Human Genetics, demonstrated that mutations in the CIROZ gene cause severe congenital heart defects. This gene was previously known as C1orf127, but its function in the human body was not understood until now. The new name reflects its recently discovered role.
Dr. Naif Al-Mutashri, an associate professor at Taibah University and a co-author of both studies, is currently conducting research on the genetic basis of heart defects in Saudi Arabia. He stated, “Many diseases remain undiagnosed, and most available treatments are limited to managing symptoms. Identifying a disease-causing gene allows us to focus research efforts on preventive strategies to reduce disease burden, as well as develop curative treatments.”
