Saturday 20 / April / 2024
Muscat: A new genetic disease has been discovered by a team of doctors working at the Royal Hospital in Muscat.
The discovery was made by a team of physicians comprising specialists from the Respiratory Diseases and Genetic Health Centre of the Royal Hospital in cooperation with their counterparts from Germany. The newly discovered genetic disease is similar to cystic fibrosis.
It was the culprit behind cases of recent pulmonary infection in four children (three of them from one family). The doctors have identified the responsible new gene as ‘AGR2’. The ‘AGR2’ gene was not previously described as the cause of any disease. It took three years to complete the study.
The team included Dr. Sumaya bint Juma Al Araimi and Dr. Khawla bint Said Al Shidhani and Dr. Maryam bint Mohammed Al Shehi.
Dr. Sumaya and Dr. Khawla, are both consultant physicians from the Respiratory Unit and Dr. Maryam is a consultant genetics and genetic medicine from the Genetic Health Centre.
The team applied the study to the gene’s effect on infected mice to further establish the symptoms of the recurrent infections.
The researchers concluded that the altered gene generates proteins that prevent the formation of mucus naturally, said Dr. Maryam bint Mohammed Al Shehi, a paediatrician and genetics consultant at the National Centre for Genetic Health at the Royal Hospital.
This in turn, affects the process of eliminating microbes easily, thus causing recurring severe infections in the lungs, which may lead to lung tissue damage in the long run, she added.
Dr. Sumaya bint Juma Al Araimi said that the discovery to identify the cause of a completely new genetic disease and document it for the first time in a prestigious scientific journal is a scientific achievement.
This discovery facilitates the diagnosis and treatment of similar rare diseases, she added.
Four cases have already been diagnosed in the Sultanate of Oman during the research period, she further said.
Dr. Khawla bint Said Al Shidhani clarified that there is currently no complete curative treatment for this disease, and the proposed treatments alleviate the disease and slow down its complications, such as pulmonary fibrosis.
Dr. Maryam laid stress on the necessity of genetic testing before marriage for members of families with history of hereditary disease.
This will help avoid occurrence of such rare genetic diseases in the future.
