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Abu Dhabi, UAETuesday 19 June 2018

Lack of UAE data means further Spinal Muscular Atrophy research is needed

It is difficult to assess prevalence with out-of-date data but anecdotal evidence suggests SMA is more of a problem here than in the US. 

An absence of up-to-date data and research into Spinal Muscular Atrophy in the UAE makes it difficult to compare like-for-like international figures.

Anecdotally, American doctors now working in the UAE with patients with complicated genetic health conditions have said it is more common here, in their experience.

The most recent study into national prevalence was published almost 20 years ago, in 1998.

Research into the pattern of major congenital malformations was conducted in 24,233 consecutive live and stillbirths at Corniche Hospital in Abu Dhabi.

Between 1992 and 1995, a total of 401 babies, including 289 Arabs, were seen with major malformation.

Single gene disorders accounted for 24 per cent of cases, with 76 per cent due to autosomal recessive disorders.

The researchers observed three cases of type 1 Spinal Muscular Atrophy, born to first cousins from the UAE.

They concluded that their study was very close to representing the true incidence of congenital abnormalities in the whole country, as they had investigated 98 per cent of deliveries at the Abu Dhabi hospital, the only maternity clinic in the capital at the time.

According to Dubai's Centre for Arab Genomic Studies, there are more than 270 genetic diseases prevalent in the UAE and the average rate of cousin marriages across the country varies from between 40 and 60 per cent.

Cousins have one eighth of their genes in common, meaning any child they have together would have a 12.5 per cent higher chance of having a genetic disease.

Measures to reduce the number of "bad genes" in the Emirati population include premarital screening, prenatal diagnosis and preimplantation genetic diagnosis (PGD).