Scientists need new metaphor for human genome


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The science of genetics has particular importance for Arab populations, among whom inherited conditions are relatively common.

Historically, one major reason for this has been the prevalence of marriages between cousins. Less well-known is the fact that some genetic conditions were once beneficial for those living in this part of the world - notably the blood disorder sickle cell anaemia, which confers protection against malaria.

Once upon a time, those attending meetings like this four-day event would tell anyone who would listen that victory against such lethal conditions was now in sight. Such optimism flowed from one of the most trumpeted scientific breakthroughs of the past half-century: the unveiling in 2000 of the first rough draft of the human genome.

The genome is often described as the "genetic book of human life". Decoding it was predicted to lead to a host of advances, from "personalised" medical treatment to the discovery of genetic risk factors for diseases like cancer - and cures for some genetic diseases.

A decade on, however, the mood of geneticists is far more downbeat, although the quest remains as inspiring as ever. There's no doubt that medicine would be transformed if doctors could tailor drugs and dosage to each individual.

For example, many hundreds of people die each year in the UAE because of adverse drug reactions.

The assumption has been that the root cause of such reactions lies in each person's genes, and the dream has been that one day doctors would simply check a patient's genome and reach for precisely the right drug, confident there would be no side effects.

Yet with very few exceptions, the dream seems more like a mirage. To date, only a small minority of women with invasive breast cancer have benefited from anything close to personalised medicine.

These women carry an overactive gene called Her2/neu, and research has shown that about half of them can benefit from a drug called Herceptin. But this drug has itself been found to increase the risk of heart dysfunction, for reasons unknown.

Genetic researchers have fared little better trying to link genes to common ailments such as heart disease and cancer.

Grand "genome-wide association" (GWA) projects have been set up, with the aim of trawling the genomes of thousands of people. But in return, researchers have been rewarded with a baffling melee of faint trails and dead ends.

The GWA technique first made headlines in 2007, when several different teams unveiled the existence of 12 genetic quirks apparently linked to coronary artery disease, the clogging up of arteries.

The disease has long been linked to factors such as high cholesterol. Yet only a handful of the genetic quirks were linked to these factors; the role of all the others remains a total mystery.

More baffling still, the 12 are all but useless at predicting who will suffer the condition - suggesting that even when their role is tracked down, the information will be of little help.

Just last week the journal Nature Genetics reported the discovery by three independent teams of 18 more genetic quirks linked to coronary artery disease. Even when combined with those previously known, however, experts estimate these genes will explain only about 10 per cent of the risk.

Nowhere is the schism between genome hype and reality starker than in the treatment of inherited diseases.

The quest for a cure began long before the human genome project, with scientists focusing on the simplest disorders, caused by faults in single genes. In 1989, a team at the Hospital for Sick Children in Toronto identified the gene for cystic fibrosis, one of the most common of all genetic diseases.

For years afterwards, geneticists talked of curing this fatal disease simply by replacing the faulty gene, like car mechanics fixing an engine by replacing the spark plugs.

Yet to this day, not a single patient has been cured of cystic fibrosis, or indeed any other common genetic disorder. Their life expectancy has certainly improved - in the case of cystic fibrosis patients, by 10 years or more - but credit for that goes to conventional medicine, not genomic research.

The common thread in this litany of disappointment is the simplistic idea of genes being "for" specific traits.

Researchers who should have known better - including a few Nobel Prize winners - cheerfully foisted this view of genes on the public, the media and worst of all, themselves. Ironically, the best evidence against it has come from the genome project itself.

One of the first discoveries from the project was the amazingly low number of genes in the human genome. Before the project began, most geneticists expected to find at least 100,000 genes.

We now know the true figure is about 23,000 - far fewer than for many parasites. The implications are clear: there is no simple relationship between genes and the living organism they supposedly define. Genes aren't at all like the "words" in a "genetic book of human life".

Metaphor plays a key role in science, defining how entire generations of researchers view their subjects. Physicists once thought of gravity as being some kind of invisible "elastic" between masses, light as made of waves, and electrons as subatomic bullets.

All these metaphors have their uses, but they also have their limits - and the success of physicists owes much to their ability to choose the right metaphor for the job.

For decades, geneticists have tried to emulate the success of physicists, and have taken a reductionist, mechanistic view of genes. Their lack of progress in understanding the genome suggests they should spend some time at this week's meeting finding a better metaphor for genes. Lives depend on it.

Robert Matthews is Visiting Reader in Science at Aston University, Birmingham, England.

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.

While you're here
MATCH INFO

Fixture: Ukraine v Portugal, Monday, 10.45pm (UAE)

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Biosafety Level 2

These labs deal with pathogens that can be harmful to people and the environment such as Hepatitis, HIV and salmonella.

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These labs contain material that can be lethal if inhaled. This includes SARS coronavirus, MERS, and yellow fever.

Significant extra precautions are taken with staff given specific immunisations when dealing with certain diseases.

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The highest level for biosafety precautions. Scientist work with highly dangerous diseases that have no vaccine or cure.

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The biog

Siblings: five brothers and one sister

Education: Bachelors in Political Science at the University of Minnesota

Interests: Swimming, tennis and the gym

Favourite place: UAE

Favourite packet food on the trip: pasta primavera

What he did to pass the time during the trip: listen to audio books

It's up to you to go green

Nils El Accad, chief executive and owner of Organic Foods and Café, says going green is about “lifestyle and attitude” rather than a “money change”; people need to plan ahead to fill water bottles in advance and take their own bags to the supermarket, he says.

“People always want someone else to do the work; it doesn’t work like that,” he adds. “The first step: you have to consciously make that decision and change.”

When he gets a takeaway, says Mr El Accad, he takes his own glass jars instead of accepting disposable aluminium containers, paper napkins and plastic tubs, cutlery and bags from restaurants.

He also plants his own crops and herbs at home and at the Sheikh Zayed store, from basil and rosemary to beans, squashes and papayas. “If you’re going to water anything, better it be tomatoes and cucumbers, something edible, than grass,” he says.

“All this throwaway plastic - cups, bottles, forks - has to go first,” says Mr El Accad, who has banned all disposable straws, whether plastic or even paper, from the café chain.

One of the latest changes he has implemented at his stores is to offer refills of liquid laundry detergent, to save plastic. The two brands Organic Foods stocks, Organic Larder and Sonnett, are both “triple-certified - you could eat the product”.  

The Organic Larder detergent will soon be delivered in 200-litre metal oil drums before being decanted into 20-litre containers in-store.

Customers can refill their bottles at least 30 times before they start to degrade, he says. Organic Larder costs Dh35.75 for one litre and Dh62 for 2.75 litres and refills will cost 15 to 20 per cent less, Mr El Accad says.

But while there are savings to be had, going green tends to come with upfront costs and extra work and planning. Are we ready to refill bottles rather than throw them away? “You have to change,” says Mr El Accad. “I can only make it available.”

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The Owo building is 14 storeys high, seven of which are below ground, with the 30,000 square feet of amenities located subterranean, including a 16-seat private cinema, seven lounges, a gym, games room, treatment suites and bicycle storage.

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RESULT

Bayer Leverkusen 2 Bayern Munich 4
Leverkusen:
 Alario (9'), Wirtz (89')
Bayern: Coman (27'), Goretzka (42'), Gnabry (45'), Lewandowski (66')