Genetic mutations that cause rare diseases in Arabs identified by UAE team

ABU DHABI // UAE scientists have uncovered previously unknown 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 with 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 a group of 20 patients from the UAE, Jordan, Sudan and Yemen, and the outcome was published in a number of international medical journals.

“This valuable scientific project boosts efforts exerted for the early detection of rare genetic diseases, and for finding out effective treatment for them. These serious disorders usually appear after birth, and can deteriorate quickly and may lead to death at an early age,” Dr Al Ali said.

One of the discovered genetic mutations is the cause of Rapson-Mendenhall syndrome – a severe insulin resistance that can result in death among other developmental complications. Another gene discovered was one that “leads to Beckwith-Weidmann syndrome, a disorder with asymmetrical overgrowth in the patient’s body organs and increased risk of cancer”, said Dr Fatima Bastaki, consultant paediatrician and clinical geneticist at Latifa Hospital.

Dr Abdul Rezzek Hemzah, a senior scientific coordinator at CAGS, said that there were more than 8,000 rare genetic disorders worldwide with different symptoms caused by a mutated gene.

“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 Hemzah said, made it difficult to apply preventative measures, early detection and treatment.

“These results are about discovering novel mutations that have never been discovered anywhere in the world.”

Due to ongoing research and these new discoveries, some diseases can now be detected and prevented at the 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 Hemzah 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 unidentified mutations that we still need to discover.”Dr Hemzah added that more research is in the pipeline and there will be announcements of new mutations that the team has unearthed.

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