Dubai researchers have developed a new test for spinal muscular atrophy that can better identify those whose genes put them at risk of developing the debilitating condition.
Created by scientists at Al Jalila Children’s Specialty Hospital, the new technology means 13 per cent of patients whose illness would be missed with standard testing will now receive a diagnosis.
Another advantage of the new approach, says Dr Ahmad Abou Tayoun, director of the hospital’s genomics centre, is that it picks up a wide range of genetic variants associated with SMA in a single test.
"Otherwise, patients currently go through a cascade of sequential testing using different technologies, each optimised to detect a single variant type, to get a diagnosis," Dr Abou Tayoun said.
This technology can be extremely fast as data can be analysed while being generated
Dr Abou Tayoun
Such a barrage of tests is likely to be "at a much higher cost" and risks delays in diagnosis and treatment, potentially missing the time window for proper management of the condition.
Dr Abou Tayoun and his co-researchers have released their findings as a pre-print scientific paper before it has been reviewed by other scientists.
Their new testing approach is not yet in wide use but is expected to become "more and more routine" as it is perfected over time.
"The test can be used for newborns or older children and adults," Dr Abou Tayoun said. "This technology can be extremely fast, as data can be analysed while being generated."
What is spinal muscular atrophy?
SMA affects motor neurons, which are nerve cells that send impulses to the muscles and causes weakness in the limbs.
Some people with the condition cannot or find it difficult to walk, while SMA may also make swallowing and breathing difficult.
Children who have the most severe form, type 1, and who are not treated, are unable to sit unsupported and typically die before their second birthday, according to the US National Institutes of Health. Symptoms of type 1 begin to manifest within the first six months of life.
Type 2 causes less severe symptoms but may prevent a child from walking.
Two other forms, type 3 and type 4, affect older children and adults, with milder but still significant symptoms.
SMA’s genetic basis is better understood than that of some other neurological conditions, such as Alzheimer’s or Parkinson’s disease.
A mutation in a gene called SMN1, which codes for a protein called SMN or survival of motor neuron, causes types 1 to 4.
People have a copy of the SMN1 gene from each parent and if only one of these has the mutation, that individual does not develop SMA.
One in 40 to 60 people is a carrier, meaning they have a copy of the mutation but do not develop symptoms.
There is a one-in-four chance that any child of two carriers will inherit two defective forms of SMN1 and therefore have SMA. Between one in 6,000 and one in 10,000 newborns will develop the condition.
New treatments described as "game-changing" have been released in recent years but for their benefit to be maximised, children should be started on them as early as possible.
Costly treatment
Among the new therapies is Zolgensma, which is a form of gene therapy because it provides a working SMN gene to cells, enabling them to produce the SMN protein.
It is administered only once but has been described as the world’s most expensive drug as the single treatment costs a reported $2 million (Dh7.35 million).
Also available are gene-based treatments that have to be administered on a number of occasions at a cost of several hundred thousand dollars a year per patient.
A key characteristic of the new test developed in Dubai is its ability to identify "methylation signatures" associated with SMA.
Methylation is the process in which methyl groups, which are chemical units with similarities to methane, become attached to the DNA that makes up genes.
It is a type of epigenetic factor, meaning that it influences gene expression – the process by which genes produce proteins – without any changes to the sequence of the DNA in and around the genes.
Dr Abou Tayoun said "we currently have no idea" what causes the methylation, and trying to understand this "will now be a whole new area of research".
"If, perhaps, we revert them, that could potentially be a way to treat this disease, given the current expensive gene therapy treatment for around $2 million," he said.
"All we know is that this signature is specific to the SMN1 gene, whose deletion is causing the disease. Further work will be carried out to understand how and why."
Previous research has shown that treating cells with a demethylating agent can increase expression of genes that produce the SMN protein.
As reported in The National, Dr Abou Tayoun and his co-researchers have also recently developed a simpler and cheaper SMA screening test for newborns.
THREE
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Difference between fractional ownership and timeshare
Although similar in its appearance, the concept of a fractional title deed is unlike that of a timeshare, which usually involves multiple investors buying “time” in a property whereby the owner has the right to occupation for a specified period of time in any year, as opposed to the actual real estate, said John Peacock, Head of Indirect Tax and Conveyancing, BSA Ahmad Bin Hezeem & Associates, a law firm.
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The specs: Macan Turbo
Engine: Dual synchronous electric motors
Power: 639hp
Torque: 1,130Nm
Transmission: Single-speed automatic
Touring range: 591km
Price: From Dh412,500
On sale: Deliveries start in October
PROFILE OF SWVL
Started: April 2017
Founders: Mostafa Kandil, Ahmed Sabbah and Mahmoud Nouh
Based: Cairo, Egypt
Sector: transport
Size: 450 employees
Investment: approximately $80 million
Investors include: Dubai’s Beco Capital, US’s Endeavor Catalyst, China’s MSA, Egypt’s Sawari Ventures, Sweden’s Vostok New Ventures, Property Finder CEO Michael Lahyani
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Napoleon
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Killing of Qassem Suleimani
Living in...
This article is part of a guide on where to live in the UAE. Our reporters will profile some of the country’s most desirable districts, provide an estimate of rental prices and introduce you to some of the residents who call each area home.
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COMPANY PROFILE
Name: Grubtech
Founders: Mohamed Al Fayed and Mohammed Hammedi
Launched: October 2019
Employees: 50
Financing stage: Seed round (raised $2 million)
MORE ON THE US DEMOCRATIC PRIMARIES
Most sought after workplace benefits in the UAE
- Flexible work arrangements
- Pension support
- Mental well-being assistance
- Insurance coverage for optical, dental, alternative medicine, cancer screening
- Financial well-being incentives
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KILLING OF QASSEM SULEIMANI
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Wicked
Director: Jon M Chu
Stars: Cynthia Erivo, Ariana Grande, Jonathan Bailey
The BIO:
He became the first Emirati to climb Mount Everest in 2011, from the south section in Nepal
He ascended Mount Everest the next year from the more treacherous north Tibetan side
By 2015, he had completed the Explorers Grand Slam
Last year, he conquered K2, the world’s second-highest mountain located on the Pakistan-Chinese border
He carries dried camel meat, dried dates and a wheat mixture for the final summit push
His new goal is to climb 14 peaks that are more than 8,000 metres above sea level
Strait of Hormuz
Fujairah is a crucial hub for fuel storage and is just outside the Strait of Hormuz, a vital shipping route linking Middle East oil producers to markets in Asia, Europe, North America and beyond.
The strait is 33 km wide at its narrowest point, but the shipping lane is just three km wide in either direction. Almost a fifth of oil consumed across the world passes through the strait.
Iran has repeatedly threatened to close the strait, a move that would risk inviting geopolitical and economic turmoil.
Last month, Iran issued a new warning that it would block the strait, if it was prevented from using the waterway following a US decision to end exemptions from sanctions for major Iranian oil importers.
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RESULTS
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SPECS
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Company%20profile
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The%20specs
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PRIMERA LIGA FIXTURES
All times UAE ( 4 GMT)
Saturday
Atletico Madrid v Sevilla (3pm)
Alaves v Real Madrid (6.15pm)
Malaga v Athletic Bilbao (8.30pm)
Girona v Barcelona (10.45pm)
Sunday
Espanyol v Deportivo la Coruna (2pm)
Getafe v Villarreal (6.15pm)
Eibar v Celta Vigo (8.30pm)
Las Palmas v Leganes (8.30pm)
Real Sociedad v Valencia (10.45pm)
Monday
Real Betis v Levante (11.pm)
Conservative MPs who have publicly revealed sending letters of no confidence
- Steve Baker
- Peter Bone
- Ben Bradley
- Andrew Bridgen
- Maria Caulfield
- Simon Clarke
- Philip Davies
- Nadine Dorries
- James Duddridge
- Mark Francois
- Chris Green
- Adam Holloway
- Andrea Jenkyns
- Anne-Marie Morris
- Sheryll Murray
- Jacob Rees-Mogg
- Laurence Robertson
- Lee Rowley
- Henry Smith
- Martin Vickers
- John Whittingdale
ULTRA PROCESSED FOODS
- Carbonated drinks, sweet or savoury packaged snacks, confectionery, mass-produced packaged breads and buns
- Margarines and spreads; cookies, biscuits, pastries, cakes, and cake mixes, breakfast cereals, cereal and energy bars
- Energy drinks, milk drinks, fruit yoghurts and fruit drinks, cocoa drinks, meat and chicken extracts and instant sauces
- Infant formulas and follow-on milks, health and slimming products such as powdered or fortified meal and dish substitutes
- Many ready-to-heat products including pre-prepared pies and pasta and pizza dishes, poultry and fish nuggets and sticks, sausages, burgers, hot dogs, and other reconstituted meat products, powdered and packaged instant soups, noodles and desserts
Third Test
Result: India won by 203 runs
Series: England lead five-match series 2-1
Credits
Produced by: Colour Yellow Productions and Eros Now
Director: Mudassar Aziz
Cast: Sonakshi Sinha, Jimmy Sheirgill, Jassi Gill, Piyush Mishra, Diana Penty, Aparshakti Khurrana
Star rating: 2.5/5
RoboCop%3A%20Rogue%20City
%3Cp%3E%3Cstrong%3EDeveloper%3A%20%3C%2Fstrong%3ETeyon%3Cbr%3E%3Cstrong%3EPublisher%3A%20%3C%2Fstrong%3ENacon%3Cbr%3E%3Cstrong%3EConsole%3A%3C%2Fstrong%3E%20PlayStation%205%2C%20Xbox%20Series%20X%2FS%20and%20PC%3Cbr%3E%3Cstrong%3ERating%3A%20%3C%2Fstrong%3E3%2F5%3C%2Fp%3E%0A
SPECS
%3Cp%3EEngine%3A%20Twin-turbocharged%204-litre%20V8%3Cbr%3EPower%3A%20625%20bhp%3Cbr%3ETorque%3A%20630Nm%3Cbr%3EOn%20sale%3A%20Now%3Cbr%3EPrice%3A%20From%20Dh974%2C011%3C%2Fp%3E%0A
RESULTS
2pm: Maiden Dh 60,000 (Dirt) 1,400m. Winner: Masaali, Pat Dobbs (jockey), Doug Watson (trainer).
2.30pm: Handicap Dh 76,000 (D) 1,400m. Winner: Almoreb, Dane O’Neill, Ali Rashid Al Raihe.
3pm: Handicap Dh 64,000 (D) 1,200m. Winner: Imprison, Fabrice Veron, Rashed Bouresly.
3.30pm: Shadwell Farm Conditions Dh 100,000 (D) 1,000m. Winner: Raahy, Adrie de Vries, Jaber Ramadhan.
4pm: Maiden Dh 60,000 (D) 1,000m. Winner: Cross The Ocean, Richard Mullen, Satish Seemar.
4.30pm: Handicap 64,000 (D) 1,950m. Winner: Sa’Ada, Fernando Jara, Ahmad bin Harmash.
1,000 Books to Read Before You Die: A Life-Changing List
James Mustich, Workman
Results
%3Cp%3E%3Cstrong%3EStage%203%3A%3C%2Fstrong%3E%3Cbr%3E1.%20Einer%20Rubio%20(COL)%20Movistar%20Team%20-%204h51%E2%80%9924%E2%80%9D%3Cbr%3E2.%20Remco%20Evenepoel%20(BEL)%20Soudal%20Quick-Step%20-%2014%22%3Cbr%3E3.%20Adam%20Yates%20(GBR)%20UAE%20Team%20Emirates%20-%2015%22%3Cbr%3E%3Cstrong%3EGeneral%20classifications%3A%3C%2Fstrong%3E%3Cbr%3E1.%20Remco%20Evenepoel%20(BEL)%20Soudal%20Quick-Step%3Cbr%3E2.%20Lucas%20Plapp%20(AUS)%20Ineos%20Grenaders)%20-%207%22%3Cbr%3E3.%20Pello%20Bilbao%20(ESP)%20Bahrain%20Victorious%20-%2011%22%3C%2Fp%3E%0A
Learn more about Qasr Al Hosn
In 2013, The National's History Project went beyond the walls to see what life was like living in Abu Dhabi's fabled fort:
Votes
Total votes: 1.8 million
Ashraf Ghani: 923,592 votes
Abdullah Abdullah: 720,841 votes
Our legal advisor
Rasmi Ragy is a senior counsel at Charles Russell Speechlys, a law firm headquartered in London with offices in Europe, the Middle East and Hong Kong.
Experience: Prosecutor in Egypt with more than 40 years experience across the GCC.
Education: Ain Shams University, Egypt, in 1978.
UAE currency: the story behind the money in your pockets
UAE%20v%20West%20Indies
%3Cp%3EFirst%20ODI%20-%20Sunday%2C%20June%204%20%0D%3Cbr%3ESecond%20ODI%20-%20Tuesday%2C%20June%206%20%0D%3Cbr%3EThird%20ODI%20-%20Friday%2C%20June%209%26nbsp%3B%3C%2Fp%3E%0A%3Cp%3EMatches%20at%20Sharjah%20Cricket%20Stadium.%20All%20games%20start%20at%204.30pm%0D%3Cbr%3E%0D%3Cbr%3E%3Cstrong%3EUAE%20squad%3C%2Fstrong%3E%0D%3Cbr%3EMuhammad%20Waseem%20(captain)%2C%20Aayan%20Khan%2C%20Adithya%20Shetty%2C%20Ali%20Naseer%2C%20Ansh%20Tandon%2C%20Aryansh%20Sharma%2C%20Asif%20Khan%2C%20Basil%20Hameed%2C%20Ethan%20D%E2%80%99Souza%2C%20Fahad%20Nawaz%2C%20Jonathan%20Figy%2C%20Junaid%20Siddique%2C%20Karthik%20Meiyappan%2C%20Lovepreet%20Singh%2C%20Matiullah%2C%20Mohammed%20Faraazuddin%2C%20Muhammad%20Jawadullah%2C%20Rameez%20Shahzad%2C%20Rohan%20Mustafa%2C%20Sanchit%20Sharma%2C%20Vriitya%20Aravind%2C%20Zahoor%20Khan%0D%3C%2Fp%3E%0A
Victims%20of%20the%202018%20Parkland%20school%20shooting
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yallacompare profile
Date of launch: 2014
Founder: Jon Richards, founder and chief executive; Samer Chebab, co-founder and chief operating officer, and Jonathan Rawlings, co-founder and chief financial officer
Based: Media City, Dubai
Sector: Financial services
Size: 120 employees
Investors: 2014: $500,000 in a seed round led by Mulverhill Associates; 2015: $3m in Series A funding led by STC Ventures (managed by Iris Capital), Wamda and Dubai Silicon Oasis Authority; 2019: $8m in Series B funding with the same investors as Series A along with Precinct Partners, Saned and Argo Ventures (the VC arm of multinational insurer Argo Group)
Australia World Cup squad
Aaron Finch (capt), Usman Khawaja, David Warner, Steve Smith, Shaun Marsh, Glenn Maxwell, Marcus Stoinis, Alex Carey, Pat Cummins, Mitchell Starc, Jhye Richardson, Nathan Coulter-Nile, Jason Behrendorff, Nathan Lyon, Adam Zampa
WHAT IS A BLACK HOLE?
1. Black holes are objects whose gravity is so strong not even light can escape their pull
2. They can be created when massive stars collapse under their own weight
3. Large black holes can also be formed when smaller ones collide and merge
4. The biggest black holes lurk at the centre of many galaxies, including our own
5. Astronomers believe that when the universe was very young, black holes affected how galaxies formed
Batti Gul Meter Chalu
Producers: KRTI Productions, T-Series
Director: Sree Narayan Singh
Cast: Shahid Kapoor, Shraddha Kapoor, Divyenndu Sharma, Yami Gautam
Rating: 2/5
