ABU DHABI // UAE scientists have uncovered genetic mutations that are responsible for rare diseases in Arab children.
The discovery will help with the early detection and treatment of some of the world’s most serious and rare diseases, doctors said.
Dr Mahmoud Taleb Al Ali, director of the Centre for Arab Genomic Studies (Cags), which is affiliated to the Sheikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences, said that a joint research project between Cags and Latifa Hospital revealed links between “12 hereditary rare diseases among Arab children and 16 new genetic mutations in 14 genes”.
A study was conducted on 20 patients from the UAE, Jordan, Sudan and Yemen, and the results published in medical journals.
“This boosts efforts in the early detection of rare genetic diseases and for finding effective treatments. These serious disorders usually appear after birth, can deteriorate quickly and may lead to death at an early age,” Dr Al Ali said.
One mutation is responsible for Rapson-Mendenhall syndrome - a severe insulin resistance that can result in death as well as developmental complications. Another gene discovered was one that “leads to Beckwith-Weidmann syndrome, a disorder with asymmetrical overgrowth of the organs and increased risk of cancer”, said Dr Fatima Bastaki, consultant paediatrician and clinical geneticist at Latifa Hospital.
Dr Abdul Rezzek Hamzeh, a senior scientific coordinator at Cags, said that there were more than 8,000 rare genetic disorders worldwide caused by mutated genes.
“Previously, doctors used to diagnose patients mainly depending upon clinical symptoms without getting down to the genetic causes of the diseases,” he said.
This method of diagnosing, Dr Hamzeh said, made it difficult to apply preventive measures, early detection and treatment.
“These results are about discovering novel mutations.”
Thanks to research and these discoveries, some diseases can now be detected and prevented at their earliest stages.
With IVF, doctors can now test for these specific mutations, and parents can decide whether they want to go forward with implantation or not, Dr Hamzeh said.
“It used to be very frustrating for families with known hereditary diseases to not know if their child will inherit the gene or not,” he said.
“We still have a lot to do. There are still mutations that we still need to discover.”