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



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).

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The smuggler

Eldarir had arrived at JFK in January 2020 with three suitcases, containing goods he valued at $300, when he was directed to a search area.
Officers found 41 gold artefacts among the bags, including amulets from a funerary set which prepared the deceased for the afterlife.
Also found was a cartouche of a Ptolemaic king on a relief that was originally part of a royal building or temple. 
The largest single group of items found in Eldarir’s cases were 400 shabtis, or figurines.

Khouli conviction

Khouli smuggled items into the US by making false declarations to customs about the country of origin and value of the items.
According to Immigration and Customs Enforcement, he provided “false provenances which stated that [two] Egyptian antiquities were part of a collection assembled by Khouli's father in Israel in the 1960s” when in fact “Khouli acquired the Egyptian antiquities from other dealers”.
He was sentenced to one year of probation, six months of home confinement and 200 hours of community service in 2012 after admitting buying and smuggling Egyptian antiquities, including coffins, funerary boats and limestone figures.

For sale

A number of other items said to come from the collection of Ezeldeen Taha Eldarir are currently or recently for sale.
Their provenance is described in near identical terms as the British Museum shabti: bought from Salahaddin Sirmali, "authenticated and appraised" by Hossen Rashed, then imported to the US in 1948.

- An Egyptian Mummy mask dating from 700BC-30BC, is on offer for £11,807 ($15,275) online by a seller in Mexico

- A coffin lid dating back to 664BC-332BC was offered for sale by a Colorado-based art dealer, with a starting price of $65,000

- A shabti that was on sale through a Chicago-based coin dealer, dating from 1567BC-1085BC, is up for $1,950

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