Thousands of newborn babies in England are to be screened for 200 curable genetic conditions as part of crucial research being launched by the National Health Service (NHS).
The Generation Study, led by Genomics England in partnership with NHS England, will see babies offered whole genome sequencing using their blood samples, which are usually taken from the umbilical cord shortly after birth.
It is hoped the study, which will involve up to 100,000 babies, will help identify more than 200 rare conditions, such as metachromatic leukodystrophy (MLD), which causes a progressive loss of physical and mental skills.
NHS chief executive Amanda Pritchard said the initiative would be vital. “Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families," she said.
“It has the potential to give thousands of children the chance to access the right treatment at the right time, giving them the best possible start to life and for families to better plan for their care.”
More than 500 blood samples have already been taken from newborns at 13 NHS hospitals as part of the study, with plans to raise that number to 40 hospitals.
By detecting these rare genetic conditions sooner, experts say hundreds of children could benefit from earlier diagnosis and treatment that could help slow progression of the disease or extend their lives.
At the moment, these conditions can be hard to diagnose, leading to delays in care.
Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions.
The Generation Study screens for these conditions in babies who appear healthy but whose symptoms may not become apparent until later in life.
As part of recruitment for the study, pregnant women and their partners are being told about the research during routine checks and invited to take part. If they choose to, an NHS doctor, nurse or midwife confirms at the time of birth they are happy to proceed, then a blood sample is collected and sent to a laboratory for sequencing.
Parents are given the results of the test within 28 days if a condition is suspected, or within a few months if no problems are picked up.
If a newborn baby is identified as having a treatable childhood condition, their families and carers will be offered further NHS testing to confirm the diagnosis, plus continuing support and treatment.
"To fix our broken NHS, we need to ensure the future of health care is more predictive, more preventative and more personalised," Health and Social Care Secretary Wes Streeting said.
“This kind of advance in genomics will help us achieve just that – ensuring families across the country have access to the right support and treatment for their loved ones. Too many parents are waiting too long for crucial answers on diagnosis, and I am determined that we use innovation to turn that around.”
For newborns, the NHS currently routinely carries out only a blood spot screening, known as the heel prick test, which is used to detect nine rare but serious health conditions.
Dr Rich Scott, chief executive at Genomics England, said the launch of the study was “a pivotal moment”.
“Children with these conditions often go years without receiving a diagnosis," he said. “Cutting this time would mean earlier access to what can be life-changing treatment.”
Lucy White’s son Joshua Curtis, 9, has terminal early juvenile MLD.
“When Josh was born he was healthy but at the age of four we had concerns about his mobility, his hand-eye co-ordination and difficulties he had with swallowing," she said. “It took us two years, after many tests and hospital appointments, to get a diagnosis because his condition was so rare.
“With earlier diagnosis, Josh could have benefitted from transformational gene therapy on the NHS, which would have been life-changing. Sadly, it was too late for Josh to receive treatment as his symptoms had progressed too far and so we have had to watch our child deteriorate in front of our eyes.
“He has lost all of the abilities he once had. He is now unable to walk, talk and eat, he struggles to swallow, has no core strength and is unable to support himself.”
Researchers are also hoping the study will help them learn more about the link between genes and health, which could lead to new treatment.
Storing genetic information from birth may also help people who are diagnosed with illnesses in later life.
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Conflict, drought, famine
Estimates of the number of deaths caused by the famine range from 400,000 to 1 million, according to a document prepared for the UK House of Lords in 2024.
It has been claimed that the policies of the Ethiopian government, which took control after deposing Emperor Haile Selassie in a military-led revolution in 1974, contributed to the scale of the famine.
Dr Miriam Bradley, senior lecturer in humanitarian studies at the University of Manchester, has argued that, by the early 1980s, “several government policies combined to cause, rather than prevent, a famine which lasted from 1983 to 1985. Mengistu’s government imposed Stalinist-model agricultural policies involving forced collectivisation and villagisation [relocation of communities into planned villages].
The West became aware of the catastrophe through a series of BBC News reports by journalist Michael Buerk in October 1984 describing a “biblical famine” and containing graphic images of thousands of people, including children, facing starvation.
Band Aid
Bob Geldof, singer with the Irish rock group The Boomtown Rats, formed Band Aid in response to the horrific images shown in the news broadcasts.
With Midge Ure of the band Ultravox, he wrote the hit charity single Do They Know it’s Christmas in December 1984, featuring a string of high-profile musicians.
Following the single’s success, the idea to stage a rock concert evolved.
Live Aid was a series of simultaneous concerts that took place at Wembley Stadium in London, John F Kennedy Stadium in Philadelphia, the US, and at various other venues across the world.
The combined event was broadcast to an estimated worldwide audience of 1.5 billion.
MATCH INFO
Champions League quarter-final, first leg
Ajax v Juventus, Wednesday, 11pm (UAE)
Match on BeIN Sports
Company profile
Name: Infinite8
Based: Dubai
Launch year: 2017
Number of employees: 90
Sector: Online gaming industry
Funding: $1.2m from a UAE angel investor
The candidates
Dr Ayham Ammora, scientist and business executive
Ali Azeem, business leader
Tony Booth, professor of education
Lord Browne, former BP chief executive
Dr Mohamed El-Erian, economist
Professor Wyn Evans, astrophysicist
Dr Mark Mann, scientist
Gina MIller, anti-Brexit campaigner
Lord Smith, former Cabinet minister
Sandi Toksvig, broadcaster
At a glance
- 20,000 new jobs for Emiratis over three years
- Dh300 million set aside to train 18,000 jobseekers in new skills
- Managerial jobs in government restricted to Emiratis
- Emiratis to get priority for 160 types of job in private sector
- Portion of VAT revenues will fund more graduate programmes
- 8,000 Emirati graduates to do 6-12 month replacements in public or private sector on a Dh10,000 monthly wage - 40 per cent of which will be paid by government
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What is the FNC?
The Federal National Council is one of five federal authorities established by the UAE constitution. It held its first session on December 2, 1972, a year to the day after Federation.
It has 40 members, eight of whom are women. The members represent the UAE population through each of the emirates. Abu Dhabi and Dubai have eight members each, Sharjah and Ras al Khaimah six, and Ajman, Fujairah and Umm Al Quwain have four.
They bring Emirati issues to the council for debate and put those concerns to ministers summoned for questioning.
The FNC’s main functions include passing, amending or rejecting federal draft laws, discussing international treaties and agreements, and offering recommendations on general subjects raised during sessions.
Federal draft laws must first pass through the FNC for recommendations when members can amend the laws to suit the needs of citizens. The draft laws are then forwarded to the Cabinet for consideration and approval.
Since 2006, half of the members have been elected by UAE citizens to serve four-year terms and the other half are appointed by the Ruler’s Courts of the seven emirates.
In the 2015 elections, 78 of the 252 candidates were women. Women also represented 48 per cent of all voters and 67 per cent of the voters were under the age of 40.
F1 The Movie
Starring: Brad Pitt, Damson Idris, Kerry Condon, Javier Bardem
Director: Joseph Kosinski
Rating: 4/5
What can victims do?
Always use only regulated platforms
Stop all transactions and communication on suspicion
Save all evidence (screenshots, chat logs, transaction IDs)
Report to local authorities
Warn others to prevent further harm
Courtesy: Crystal Intelligence
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
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'Morbius'
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