An Emirati father's determination to find out what was causing his son's constant illness has led to the discovery of a rare genetic syndrome in the Middle East.
Majid Salim Muhammad Saif Al Shamili, from Ras Al Khaimah, said Salem was repeatedly taken to hospital with infections, often choking and experiencing "very slow growth". Other symptoms included delays in neurodevelopment, and abnormalities in the shape of his head and face.
It was only after Salem, five, was seen at the Al Jalila Children’s Hospital in Dubai that an endocrinology specialist, Dr Nandu Thalange, suspected a genetic change may have been responsible and he instructed a detailed analysis be carried out.
Along with his colleagues, Dr Ahmad Abou Tayoun, director of the Dubai Health Genomic Medicine Centre and an associate professor of genetics at Mohammed Bin Rashid University, found the child had a condition caused by a single gene mutation.
Tough for parents
When Salem was first taken to hospital in 2020, it kick-started a major research project that led to the identification of more than a dozen children from the UAE, and elsewhere in the region, who were also found to have the disease.
“My reaction at the beginning when he was diagnosed was very difficult for us as his parents, and also my son was the first case of this disease [in the region], so this is what worried us,” said Mr Al Shamili.
After a study, which took five years to complete, researchers have released their findings to identify and characterise the condition, which has so far been seen only in Arab children but which may also affect people from other parts of the world.
"Although we saw the first patient back in 2020, we really didn't confirm the diagnosis until the conclusion of the study and [after] evaluating all of the data," said Dr Tayoun, co-author of the paper published in the American Journal of Human Genetics.
Salem had inherited a mutation from each parent, which made him unable to produce a vital protein in his cells, leading to changes that caused his symptoms.
"We realised this was the most likely cause of disease and submitted our findings to an online tool where investigators worldwide submit novel genes they identified in undiagnosed patients,” Dr Tayoun said.
Based on the symptoms and the gene, the tool matched the Dubai researchers with a geneticist in Saudi Arabia, Dr Bruno Reversade, and researchers in Germany who had analysed DNA samples from Middle Eastern patients.
With the study under way, another patient at Al Jalila Children’s Hospital was found to have the same genetic variant, known as FBX022. "Other similarly affected patients were also identified in the GCC and Lebanon,” said Dr Tayoun – a total 16 patients who had similar symptoms and shared mutations in the gene were identified.
Vital procedures
Much of the genetic work was undertaken at the Dubai Health Genomic Medicine Centre, which was previously known as the Genomic Centre of Excellence at Al Jalila Children's Specialty Hospital.
“Doing genomics work locally is crucial for research activities and discoveries like this one,” Dr Tayoun said.
He said the work also showed Dubai Health’s commitment to “advancing medical discovery” by involving clinicians, clinical scientists and researchers.
“This work also highlights the importance of regional and international collaborations, given the rarity of monogenic diseases [caused by a mutation to a single gene] and the need to connect similarly affected patients to establish causality,” he said.
The analysis indicates that the most common variant of FBX022 identified probably originated in the Middle East, so it is more common in the region than elsewhere. The research identified seven affected Emirati families, all having the most common variant, as did all four families from Oman. Families from Saudi Arabia and Lebanon had different variants.
“All patients so far identified are Arabs but we are sure, now the gene has been discovered, that patients from other populations will be identified, though with different variants,” Dr Tayoun said.
It is possible children may have had the condition in the past but the cause of their symptoms went unrecognised, he added.
Too new to treat
Being a newly identified syndrome, there is not yet any treatment for the condition. The most effective approach, should it be possible, would be a form of therapy in which the deficient form of the gene is replaced with a normal copy. Dr Tayoun said this replacement would need to be done in time to avoid “irreversible, permanent changes during development”.
The Middle East tended to be under-represented in global genomic studies, Dr Tayoun said, resulting in “missed opportunities” to identify novel genetic conditions specific to the region.
While a cure is not possible, Salem, who turns six next month, is showing “very good” development compared to his first three years, his father said, and medication is controlling symptoms such as spasms. His cognition has improved and is continuing to develop thanks to the treatment.
“Now he is undergoing physical and occupational therapy and, thank God, he has started to develop and acquire skills, such as standing and walking a little,” said Mr Al Shamili.
Benefits of first-time home buyers' scheme
- Priority access to new homes from participating developers
- Discounts on sales price of off-plan units
- Flexible payment plans from developers
- Mortgages with better interest rates, faster approval times and reduced fees
- DLD registration fee can be paid through banks or credit cards at zero interest rates
SUE%20GRAY'S%20FINDINGS
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ESSENTIALS
The flights
Emirates flies from Dubai to Phnom Penh via Yangon from Dh2,700 return including taxes. Cambodia Bayon Airlines and Cambodia Angkor Air offer return flights from Phnom Penh to Siem Reap from Dh250 return including taxes. The flight takes about 45 minutes.
The hotels
Rooms at the Raffles Le Royal in Phnom Penh cost from $225 (Dh826) per night including taxes. Rooms at the Grand Hotel d'Angkor cost from $261 (Dh960) per night including taxes.
The tours
A cyclo architecture tour of Phnom Penh costs from $20 (Dh75) per person for about three hours, with Khmer Architecture Tours. Tailor-made tours of all of Cambodia, or sites like Angkor alone, can be arranged by About Asia Travel. Emirates Holidays also offers packages.
Ferrari 12Cilindri specs
Engine: naturally aspirated 6.5-liter V12
Power: 819hp
Torque: 678Nm at 7,250rpm
Price: From Dh1,700,000
Available: Now
RESULT
Shabab Al Ahli Dubai 0 Al Ain 6
Al Ain: Caio (5', 73'), El Shahat (10'), Berg (65'), Khalil (83'), Al Ahbabi (90' 2)
Bugatti Chiron Super Sport - the specs:
Engine: 8.0-litre quad-turbo W16
Transmission: 7-speed DSG auto
Power: 1,600hp
Torque: 1,600Nm
0-100kph in 2.4seconds
0-200kph in 5.8 seconds
0-300kph in 12.1 seconds
Top speed: 440kph
Price: Dh13,200,000
Bugatti Chiron Pur Sport - the specs:
Engine: 8.0-litre quad-turbo W16
Transmission: 7-speed DSG auto
Power: 1,500hp
Torque: 1,600Nm
0-100kph in 2.3 seconds
0-200kph in 5.5 seconds
0-300kph in 11.8 seconds
Top speed: 350kph
Price: Dh13,600,000
UAE currency: the story behind the money in your pockets
Profile
Company: Justmop.com
Date started: December 2015
Founders: Kerem Kuyucu and Cagatay Ozcan
Sector: Technology and home services
Based: Jumeirah Lake Towers, Dubai
Size: 55 employees and 100,000 cleaning requests a month
Funding: The company’s investors include Collective Spark, Faith Capital Holding, Oak Capital, VentureFriends, and 500 Startups.
UAE tour of the Netherlands
UAE squad: Rohan Mustafa (captain), Shaiman Anwar, Ghulam Shabber, Mohammed Qasim, Rameez Shahzad, Mohammed Usman, Adnan Mufti, Chirag Suri, Ahmed Raza, Imran Haider, Mohammed Naveed, Amjad Javed, Zahoor Khan, Qadeer Ahmed
Fixtures:
Monday, 1st 50-over match
Wednesday, 2nd 50-over match
Thursday, 3rd 50-over match
Volvo ES90 Specs
Engine: Electric single motor (96kW), twin motor (106kW) and twin motor performance (106kW)
Power: 333hp, 449hp, 680hp
Torque: 480Nm, 670Nm, 870Nm
On sale: Later in 2025 or early 2026, depending on region
Price: Exact regional pricing TBA
More from Rashmee Roshan Lall
A MINECRAFT MOVIE
Director: Jared Hess
Starring: Jack Black, Jennifer Coolidge, Jason Momoa
Rating: 3/5
A German university was a good fit for the family budget
Annual fees for the Technical University of Munich - £600
Shared rental accommodation per month depending on the location ranges between £200-600
The family had budgeted for food, books, travel, living expenses - £20,000 annually
Overall costs in Germany are lower than the family estimated
As proof that the student has the ability to take care of expenses, international students must open a blocked account with about £8,640
Students are permitted to withdraw £720 per month
THE SPECS
Engine: 6.75-litre twin-turbocharged V12 petrol engine
Power: 420kW
Torque: 780Nm
Transmission: 8-speed automatic
Price: From Dh1,350,000
On sale: Available for preorder now
Read more from Johann Chacko
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World record transfers
1. Kylian Mbappe - to Real Madrid in 2017/18 - €180 million (Dh770.4m - if a deal goes through)
2. Paul Pogba - to Manchester United in 2016/17 - €105m
3. Gareth Bale - to Real Madrid in 2013/14 - €101m
4. Cristiano Ronaldo - to Real Madrid in 2009/10 - €94m
5. Gonzalo Higuain - to Juventus in 2016/17 - €90m
6. Neymar - to Barcelona in 2013/14 - €88.2m
7. Romelu Lukaku - to Manchester United in 2017/18 - €84.7m
8. Luis Suarez - to Barcelona in 2014/15 - €81.72m
9. Angel di Maria - to Manchester United in 2014/15 - €75m
10. James Rodriguez - to Real Madrid in 2014/15 - €75m
Is it worth it? We put cheesecake frap to the test.
The verdict from the nutritionists is damning. But does a cheesecake frappuccino taste good enough to merit the indulgence?
My advice is to only go there if you have unusually sweet tooth. I like my puddings, but this was a bit much even for me. The first hit is a winner, but it's downhill, slowly, from there. Each sip is a little less satisfying than the last, and maybe it was just all that sugar, but it isn't long before the rush is replaced by a creeping remorse. And half of the thing is still left.
The caramel version is far superior to the blueberry, too. If someone put a full caramel cheesecake through a liquidiser and scooped out the contents, it would probably taste something like this. Blueberry, on the other hand, has more of an artificial taste. It's like someone has tried to invent this drink in a lab, and while early results were promising, they're still in the testing phase. It isn't terrible, but something isn't quite right either.
So if you want an experience, go for a small, and opt for the caramel. But if you want a cheesecake, it's probably more satisfying, and not quite as unhealthy, to just order the real thing.
Results
4pm: Maiden (Dirt) Dh165,000 1,600m
Winner: Moshaher, Pat Dobbs (jockey), Doug Watson (trainer).
4.35pm: Handicap (D) Dh165,000 2,200m
Winner: Heraldic, Richard Mullen, Satish Seemar.
5.10pm: Maiden (Turf) Dh165,000 1,600m
Winner: Rua Augusta, Harry Bentley, Ahmad bin Harmash.
5.45pm: Handicap (D) Dh190,000 1,200m
Winner: Private’s Cove, Mickael Barzalona, Sandeep Jadhav.
6.20pm: Handicap (T) Dh190,000 1,600m
Winner: Azmaam, Jim Crowley, Musabah Al Muhairi.
6.55pm: Handicap (D) Dh190,000 1,400m
Winner: Bochart, Richard Mullen, Satish Seemar.
7.30pm: Handicap (T) Dh190,000 2,000m
Winner: Rio Tigre, Mickael Barzalona, Sandeep Jadhav.
COMPANY%20PROFILE%20
%3Cp%3EName%3A%20DarDoc%3Cbr%3EBased%3A%20Abu%20Dhabi%3Cbr%3EFounders%3A%20Samer%20Masri%2C%20Keswin%20Suresh%3Cbr%3ESector%3A%20HealthTech%3Cbr%3ETotal%20funding%3A%20%24800%2C000%3Cbr%3EInvestors%3A%20Flat6Labs%2C%20angel%20investors%20%2B%20Incubated%20by%20Hub71%2C%20Abu%20Dhabi's%20Department%20of%20Health%3Cbr%3ENumber%20of%20employees%3A%2010%3C%2Fp%3E%0A
Killing of Qassem Suleimani
Killing of Qassem Suleimani
KILLING OF QASSEM SULEIMANI
MATCH INFO
Uefa Champions League semi-final, second leg result:
Ajax 2-3 Tottenham
Tottenham advance on away goals rule after tie ends 3-3 on aggregate
Final: June 1, Madrid
Key facilities
- Olympic-size swimming pool with a split bulkhead for multi-use configurations, including water polo and 50m/25m training lanes
- Premier League-standard football pitch
- 400m Olympic running track
- NBA-spec basketball court with auditorium
- 600-seat auditorium
- Spaces for historical and cultural exploration
- An elevated football field that doubles as a helipad
- Specialist robotics and science laboratories
- AR and VR-enabled learning centres
- Disruption Lab and Research Centre for developing entrepreneurial skills
About Proto21
Date started: May 2018
Founder: Pir Arkam
Based: Dubai
Sector: Additive manufacturing (aka, 3D printing)
Staff: 18
Funding: Invested, supported and partnered by Joseph Group
Specs
Engine: 51.5kW electric motor
Range: 400km
Power: 134bhp
Torque: 175Nm
Price: From Dh98,800
Available: Now
From Europe to the Middle East, economic success brings wealth - and lifestyle diseases
A rise in obesity figures and the need for more public spending is a familiar trend in the developing world as western lifestyles are adopted.
One in five deaths around the world is now caused by bad diet, with obesity the fastest growing global risk. A high body mass index is also the top cause of metabolic diseases relating to death and disability in Kuwait, Qatar and Oman – and second on the list in Bahrain.
In Britain, heart disease, lung cancer and Alzheimer’s remain among the leading causes of death, and people there are spending more time suffering from health problems.
The UK is expected to spend $421.4 billion on healthcare by 2040, up from $239.3 billion in 2014.
And development assistance for health is talking about the financial aid given to governments to support social, environmental development of developing countries.
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%3Cp%3E%3Cstrong%3EDirector%3A%20%3C%2Fstrong%3ELuv%20Ranjan%26nbsp%3B%3C%2Fp%3E%0A%3Cp%3E%3Cstrong%3EStars%3A%20%3C%2Fstrong%3ERanbir%20Kapoor%2C%20Shraddha%20Kapoor%2C%20Anubhav%20Singh%20Bassi%20and%20Dimple%20Kapadia%3C%2Fp%3E%0A%3Cp%3E%3Cstrong%3ERating%3A%3C%2Fstrong%3E%203%2F5%3C%2Fp%3E%0A
UPI facts
More than 2.2 million Indian tourists arrived in UAE in 2023
More than 3.5 million Indians reside in UAE
Indian tourists can make purchases in UAE using rupee accounts in India through QR-code-based UPI real-time payment systems
Indian residents in UAE can use their non-resident NRO and NRE accounts held in Indian banks linked to a UAE mobile number for UPI transactions
COMPANY%20PROFILE%20
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Last five meetings
2013: South Korea 0-2 Brazil
2002: South Korea 2-3 Brazil
1999: South Korea 1-0 Brazil
1997: South Korea 1-2 Brazil
1995: South Korea 0-1 Brazil
Note: All friendlies
The specs
- Engine: 3.9-litre twin-turbo V8
- Power: 640hp
- Torque: 760nm
- On sale: 2026
- Price: Not announced yet
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%3Cp%3E%3Cstrong%3EDirector%3A%C2%A0%3C%2Fstrong%3EHayao%20Miyazaki%3C%2Fp%3E%0A%3Cp%3E%3Cstrong%3EStarring%3A%3C%2Fstrong%3E%C2%A0Soma%20Santoki%2C%20Masaki%20Suda%2C%20Ko%20Shibasaki%3C%2Fp%3E%0A%3Cp%3E%3Cstrong%3ERating%3A%20%3C%2Fstrong%3E5%2F5%3C%2Fp%3E%0A
MATCH INFO
Azerbaijan 0
Wales 2 (Moore 10', Wilson 34')
The specs
Engine: 5.0-litre supercharged V8
Transmission: Eight-speed auto
Power: 575bhp
Torque: 700Nm
Price: Dh554,000
On sale: now
Mohammed bin Zayed Majlis
Specs
Engine: Dual-motor all-wheel-drive electric
Range: Up to 610km
Power: 905hp
Torque: 985Nm
Price: From Dh439,000
Available: Now
The specs
Engine: Four electric motors, one at each wheel
Power: 579hp
Torque: 859Nm
Transmission: Single-speed automatic
Price: From Dh825,900
On sale: Now
Dust and sand storms compared
Sand storm
- Particle size: Larger, heavier sand grains
- Visibility: Often dramatic with thick "walls" of sand
- Duration: Short-lived, typically localised
- Travel distance: Limited
- Source: Open desert areas with strong winds
Dust storm
- Particle size: Much finer, lightweight particles
- Visibility: Hazy skies but less intense
- Duration: Can linger for days
- Travel distance: Long-range, up to thousands of kilometres
- Source: Can be carried from distant regions
The specs
Engine: 1.5-litre turbo
Power: 181hp
Torque: 230Nm
Transmission: 6-speed automatic
Starting price: Dh79,000
On sale: Now
Thank You for Banking with Us
Director: Laila Abbas
Starring: Yasmine Al Massri, Clara Khoury, Kamel El Basha, Ashraf Barhoum
Rating: 4/5
How much sugar is in chocolate Easter eggs?
- The 169g Crunchie egg has 15.9g of sugar per 25g serving, working out at around 107g of sugar per egg
- The 190g Maltesers Teasers egg contains 58g of sugar per 100g for the egg and 19.6g of sugar in each of the two Teasers bars that come with it
- The 188g Smarties egg has 113g of sugar per egg and 22.8g in the tube of Smarties it contains
- The Milky Bar white chocolate Egg Hunt Pack contains eight eggs at 7.7g of sugar per egg
- The Cadbury Creme Egg contains 26g of sugar per 40g egg