ABU DHABI // When a couple brought their young child to the clinical geneticist Dr Lihadh al Gazali, she immediately recognised the signs.
There was mental retardation, blindness caused by black holes in the eye, painful and untreatable skin lesions, and an underdeveloped cerebellum, which is the region of the brain that controls movement.
The family had already lost another child to the same symptoms, and some relatives were similarly affected.
Although Dr al Gazali knew it was a recessive disorder resulting from inter-family marriage, there was not yet a name for the condition.
Her research led her to connect the disorder with other cases, and to give it a name: CHIME-like syndrome.
Her research was among 100 projects showcased last night at the UAEU Education & Research 2011 event at Emirates Palace.
"Once we identified the gene, we understood the actual disease and what it involves, and can then look into the possibility of treatment," said Dr al Gazali, a professor in clinical genetics and paediatrics at UAE University. "Once you make a diagnosis like that, the family is happier because they are out of the dark and can stop going from one doctor to another trying to find a solution for their child."
Consanguinity, or a relationship by blood or common ancestor, has a 50 per cent rate among Emiratis, Dr al Gazali said during a recent interview.
More than 270 genetic diseases have been reported in the UAE, and the Ministry of Health has named genetic disorders as one of the top five highest causes of death in the country.
Dr al Gazali and her colleague, Dr Bassam Ali, an associate professor of molecular and genetic medicine, have identified genes for about 15 disorders specific to families in the region. About eight of those were new diagnoses.
"When I began seeing patients here, most of the cases seemed very strange and not very well defined or well known," said Dr al Gazali, who was trained in the UK. "There was not much I could do for the families except to talk with them about it."
By identifying the genes, families have more options for conceiving, she said. Screenings of prospective spouses can determine who is a carrier of a recessive gene.
A pre-implantation diagnosis, not yet done in the UAE but available in Saudi Arabia, allows for testing of an identified mutation in the genes before implanting the egg in the womb. The eggs that that are defective can be discarded.
That form of screening is more acceptable than prenatal diagnosis, which is a precursor to abortion.
econroy@thenational.ae
The National's picks
4.35pm: Tilal Al Khalediah
5.10pm: Continous
5.45pm: Raging Torrent
6.20pm: West Acre
7pm: Flood Zone
7.40pm: Straight No Chaser
8.15pm: Romantic Warrior
8.50pm: Calandogan
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NO OTHER LAND
Director: Basel Adra, Yuval Abraham, Rachel Szor, Hamdan Ballal
Stars: Basel Adra, Yuval Abraham
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The Lowdown
Us
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WISH
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Company%20profile
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Napoleon
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Ms Yang's top tips for parents new to the UAE
- Join parent networks
- Look beyond school fees
- Keep an open mind
WRESTLING HIGHLIGHTS
The specs
Engine: 3.0-litre twin-turbo flat-six
Power: 480hp at 6,500rpm
Torque: 570Nm from 2,300-5,000rpm
Transmission: 8-speed dual-clutch auto
Fuel consumption: 10.4L/100km
Price: from Dh547,600
On sale: now
Mia Man’s tips for fermentation
- Start with a simple recipe such as yogurt or sauerkraut
- Keep your hands and kitchen tools clean. Sanitize knives, cutting boards, tongs and storage jars with boiling water before you start.
- Mold is bad: the colour pink is a sign of mold. If yogurt turns pink as it ferments, you need to discard it and start again. For kraut, if you remove the top leaves and see any sign of mold, you should discard the batch.
- Always use clean, closed, airtight lids and containers such as mason jars when fermenting yogurt and kraut. Keep the lid closed to prevent insects and contaminants from getting in.
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'Gold'
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Real estate tokenisation project
Dubai launched the pilot phase of its real estate tokenisation project last month.
The initiative focuses on converting real estate assets into digital tokens recorded on blockchain technology and helps in streamlining the process of buying, selling and investing, the Dubai Land Department said.
Dubai’s real estate tokenisation market is projected to reach Dh60 billion ($16.33 billion) by 2033, representing 7 per cent of the emirate’s total property transactions, according to the DLD.
What is a robo-adviser?
Robo-advisers use an online sign-up process to gauge an investor’s risk tolerance by feeding information such as their age, income, saving goals and investment history into an algorithm, which then assigns them an investment portfolio, ranging from more conservative to higher risk ones.
These portfolios are made up of exchange traded funds (ETFs) with exposure to indices such as US and global equities, fixed-income products like bonds, though exposure to real estate, commodity ETFs or gold is also possible.
Investing in ETFs allows robo-advisers to offer fees far lower than traditional investments, such as actively managed mutual funds bought through a bank or broker. Investors can buy ETFs directly via a brokerage, but with robo-advisers they benefit from investment portfolios matched to their risk tolerance as well as being user friendly.
Many robo-advisers charge what are called wrap fees, meaning there are no additional fees such as subscription or withdrawal fees, success fees or fees for rebalancing.
The%20Roundup
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Our legal columnist
Name: Yousef Al Bahar
Advocate at Al Bahar & Associate Advocates and Legal Consultants, established in 1994
Education: Mr Al Bahar was born in 1979 and graduated in 2008 from the Judicial Institute. He took after his father, who was one of the first Emirati lawyers
Full Party in the Park line-up
2pm – Andreah
3pm – Supernovas
4.30pm – The Boxtones
5.30pm – Lighthouse Family
7pm – Step On DJs
8pm – Richard Ashcroft
9.30pm – Chris Wright
10pm – Fatboy Slim
11pm – Hollaphonic
DIVINE%20INTERVENTOIN
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The specs
Engine: 2.4-litre 4-cylinder
Transmission: CVT auto
Power: 181bhp
Torque: 244Nm
Price: Dh122,900
