Connect with us

News

First newborns join screening for more than 200 rare diseases

Published

on

First newborns join screening for more than 200 rare diseases
BBC  Dominika Nanus and her one-day-old daughter Emilia, who is part of the screening programmeBBC

Dominika’s one-day-old daughter Emilia is part of the screening programme

The entire genetic code of up to 100,000 newborn babies in England will be analysed by the NHS, with the aim of speeding up the diagnosis and treatment of more than 200 rare diseases.

At present, newborns are given a heelprick blood test that checks for nine serious conditions, including cystic fibrosis.

As part of this new study, led by Genomics England, blood samples will be taken from babies’ umbilical cords to help diagnose many more gene disorders, such as haemophilia and spinal muscular atrophy.

Hundreds of blood samples have already been collected from babies born at 13 hospitals in England; around 40 hospitals will eventually offer the test.

Advertisement
Jemma and her newborn son, Hugo

Jemma Jordan with her two-day-old son, Hugo, who is part of the screening programme

There are approximately 7,000 single gene disorders, but the programme will look only for those disorders that develop in early childhood for which there are effective treatments.

In some cases the diseases are curable, if caught early.

Screening newborn babies for these rare diseases involves sequencing their complete DNA – or genome – using blood samples from their umbilical cord.

At Birmingham Women’s Hospital, which is already offering the screening test, Dominika Nanus, 38, told me it was a “no-brainer” to take part in the study, having seen it advertised on a poster during an antenatal appointment.

Advertisement

She said her daughter Emilia, born the previous day, would “benefit directly but also contribute to wider research”.

Before she had even named her two-day-old son – now called Hugo – Jemma Jordan, 40, told me she had no hesitation in having him screened, because she would rather know if there were any health issues “from the offset”, and because it would help children in the future.

Dr Ellen Thomas, chief medical officer at NHS England, said the 200 conditions the study looks for cause “substantial health problems early in childhood”.

“The treatments and interventions which are available for all of them can have a dramatic impact on that child,” she added.

Advertisement

‘Don’t hesitate’

Lucy White with her son Joshua, who is nine years old

Lucy White with her son, Joshua Curtis, 9, who has MLD and can no longer walk or talk

At present it can take years for genetic diseases to be diagnosed, and these are often picked up only once a child becomes seriously ill.

Lucy White’s son Joshua, aged nine, has a rare genetic disorder called early juvenile Metachromatic Leukodystrophy (MLD), which is part of the new screening test.

Joshua was apparently healthy at birth, but his mobility began deteriorating at about the age of four, and in the past two years he has lost the ability to walk or talk.

Advertisement

Lucy, from Surrey, says it took more than two years of hospital appointments, specialist visits, scans and other procedures before they were given a diagnosis.

Had Joshua’s condition been identified at birth he might have been eligible for a clinical trial of a treatment now available on the NHS that can halt the damage done by MLD.

Lucy has given up work as Joshua needs round-the-clock care and is tube-fed. She says he may have only another 10 years to live as the genetic condition is progressive.

She urged parents to sign up for the screening test.

Advertisement

“Do not hesitate. If you can save your child’s life, that is more important than anything in this world,” she said.

Joshua dancing and singing - image taken from a family video

Just two years ago, Joshua could dance and sing

When those children selected to take part in the study turn 16, they will be asked if they want to continue in the research programme, which could involve analysing other parts of their DNA for conditions that might potentially develop when they are adults.

This might include certain cancers, heart disease or dementia.

But it might also raise ethical questions about what health information is appropriate to share with individuals about their future health risks.

Advertisement

Genomics England said the entire focus of the study was on treatable conditions occurring early in childhood, and no decisions had yet been made on how whole genome sequences would be used in the future.

Dr Rich Scott, chief executive officer at Genomics England, called the study “a pivotal moment”.

He said the plan was to collect evidence to determine whether genomic newborn screening should be offered to all children.

NHS England chief executive Amanda Pritchard said diagnosing rare conditions in newborn babies through genomic testing “had 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”.

Advertisement

Source link

Continue Reading
Advertisement
Click to comment

You must be logged in to post a comment Login

Leave a Reply

Business

Housing shortage forcing dairy farmers off the land

Published

on

Banker all-nighters create productivity paradox

Madeleine Speed’s report “Worker shortages pose risk to food supply, warns Arla” (September 24) highlights how dairy farmers are quitting the industry. Herdspeople need to live near their work, but rural homes are invariably occupied by retirees or become holiday homes. Affordable rural homes can be built on so-called “rural exception sites”, but local authorities often require housing needs surveys to prove a need. These surveys cost a lot of money and only go to families who already have a home! Local authorities refuse to recognise numbers on their housing waiting list as proving need.

Only three parishes in the whole of East Devon have had such a survey in the past two years, so it is not a surprise that affordable rural homes are not being built. There are over 5,000 families in East Devon who are desperate for a home, but our council refuses to recognise them as being in need. The problem is the Nimbys.

Robert Persey
Honiton, Devon, UK

Source link

Advertisement
Continue Reading

Travel

Uber to launch limited-edition safari experiences in South Africa

Published

on

Uber to launch limited-edition safari experiences in South Africa

Uber is launching a limited-time safari experience in Cape Town, South Africa, available from 4 October, 2024, to 25 January, 2025, as the latest experience in their ‘Go Anywhere’ series of travel products

Continue reading Uber to launch limited-edition safari experiences in South Africa at Business Traveller.

Source link

Advertisement
Continue Reading

News

‘There’s No Safety’: Decision to Leave Ends in Tragedy for Lebanese Family

Published

on

‘There’s No Safety’: Decision to Leave Ends in Tragedy for Lebanese Family

Zahraa Badreddine fled Nabatieh in southern Lebanon as Israeli airstrikes intensified, hoping to find safety in a predominantly Christian area closer to the coast. But last Sunday, an airstrike near Sidon killed her two children.

Source link

Continue Reading

Business

Parental rights ought to be motherhood and apple pie

Published

on

You wrote about Kemi Badenoch’s controversial comments on maternity pay at the Conservative party conference (Report, October 1), yet over the past two weeks a broader and ongoing clash of opinions over parental rights has been unfolding.

Deloitte made a clear statement by equalising parental leave, Campaign group The Dad Shift called for longer paternity leave and Badenoch argued statutory maternity pay is “excessive”. What’s clear is the lack of consensus on how best to support working parents.

But this isn’t about pitting genders against each other over caregiving roles or trading the “motherhood penalty” — the term used to describe the disadvantages that working mothers face in the workplace compared to childless women or men — for a broader “parenthood penalty”.

The choice hinges on organisations offering extended or equalised parental leave to encourage fathers to share responsibilities — critical to reducing the motherhood penalty, which accounts for 80 per cent of the gender pay gap. A cultural shift is needed where senior leaders model and endorse active parenthood to create an environment where both men and women feel confident using parental support without fear of damaging their careers or reputations.

Advertisement

Emma Spitz
Chief Client Officer and Parental Transition Coach, The Executive Coaching Consultancy, London EC3, UK

Source link

Continue Reading

News

Israel strikes heart of Beirut, killing six

Published

on

Ongoing hostilities between Hezbollah and Israeli forces in Lebanon

By Timour Azhari and Ari Rabinovitch

BEIRUT/JERUSALEM (Reuters) – Israel bombed central Beirut in the early hours of Thursday, killing at least six people, after its forces suffered their deadliest day on the Lebanese front in a year of clashes against Iran-backed armed group Hezbollah.

Israel said it conducted a precise air strike on Beirut. Reuters witnesses reported hearing a massive blast, and a security source said it targeted a building in central Beirut’s Bachoura neighbourhood close to parliament, the nearest Israeli strikes have come to Lebanon’s seat of government.

At least six people were killed and seven wounded, Lebanese health officials said. A photo being circulated on Lebanese WhatsApp groups, which Reuters could not immediately verify, showed a heavily damaged building with its first floor on fire.

Advertisement

Three missiles also hit the southern suburb of Dahiyeh, where Hezbollah leader Hassan Nasrallah was killed last week, and loud explosions were heard, Lebanese security officials said. The southern suburbs came under more than a dozen Israeli strikes on Wednesday.

A day after Iran fired more than 180 missiles into Israel, Israel said on Wednesday eight soldiers were killed in ground combat in south Lebanon as its forces thrust into its northern neighbour.

The Israeli military said regular infantry and armoured units joined its ground operations in Lebanon on Wednesday as Iran’s missile attack and Israel’s promise of retaliation raised concerns that the oil-producing Middle East could be caught up in a wider conflict.

Hezbollah said its fighters engaged Israeli forces inside Lebanon. The movement reported ground clashes for the first time since Israeli forces pushed over the border on Monday. Hezbollah said it had destroyed three Israeli Merkava tanks with rockets near the border town of Maroun El Ras.

Advertisement

Israeli Prime Minister Benjamin Netanyahu, in a condolence video, said: “We are at the height of a difficult war against Iran’s Axis of Evil, which wants to destroy us.

“This will not happen because we will stand together and with God’s help, we will win together,” he said.

Lebanon’s health ministry said Israeli air raids killed at least 46 people in the south and centre of the country over the past 24 hours.

Iran said on Wednesday its missile volley – its biggest ever assault on Israel – was over barring further provocation, but Israel and the United States promised to hit back hard.

Advertisement

U.S. President Joe Biden said he would not support any Israeli strike on Iran’s nuclear sites in response to its ballistic missile attack and urged Israel to act “proportionally” against its regional arch-foe.

Biden joined a call with Group of Seven major power leaders on Wednesday to coordinate a response, including new sanctions against Tehran, the White House said.

G7 leaders voiced “strong concern” over the Middle East crisis but said a diplomatic solution was still viable and a region-wide conflict was in no one’s interest, a statement said.

Hezbollah said it repelled Israeli forces near several border towns and also fired rockets at military posts inside Israel.

Advertisement

The paramilitary group’s media chief Mohammad Afif said those battles were only “the first round” and that Hezbollah had enough fighters, weapons and ammunition to push back Israel.

Israel’s addition of infantry and armoured troops from the 36th Division, including the Golani Brigade, the 188th Armoured Brigade and 6th Infantry Brigade, suggested that the operation might expand beyond limited commando raids.

The military has said its incursion is largely aimed at destroying tunnels and other infrastructure on the border and there were no plans for a wider operation targeting the Lebanese capital Beirut to the north or major cities in the south.

1.2 MILLION LEBANESE DISPLACED

Advertisement

Nevertheless, it issued new evacuation orders for around two dozen towns along the southern border, instructing inhabitants to head north of the Awali River, which flows east to west some 60 km (37 miles) north of the Israeli frontier.

More than 1,900 people have been killed and over 9,000 wounded in Lebanon in almost a year of cross-border fighting, with most of the deaths occurring in the past two weeks, according to Lebanese government statistics.

Caretaker Prime Minister Najib Mikati said that about 1.2 million Lebanese had been displaced by Israeli attacks.

Malika Joumaa, from Sudan, was forced to take shelter in Saint Joseph’s church in Beirut after being forced from her house near Sidon in coastal south Lebanon with her husband and two children.

Advertisement

“It’s good that the church offered its help. We were going to stay in the streets; where would we have gone?”

Iran described Tuesday’s missile assault as a response to Israeli killings of militant leaders, including Nasrallah, attacks in Lebanon against the group and Israel’s war against Palestinian Hamas militants in Gaza.

There were no casualties from the missile onslaught in Israel, but one person was killed in the occupied West Bank.

(Reporting by James Mackenzie and Steven Scheer in Jerusalem; Maya Gebeily and Timour Azhari in Beirut; Parisa Hafezi in Istanbul; Phil Stewart, Jeff Mason and Idrees Ali in Washington; Michelle Nichols in New York; Adam Makary, Jaidaa Taha and Enas Alashray in Cairo; and Tala Ramadan, Jana Choukeir and Jack Kim in Seoul and Matthias Williams in Berlin, Elwely Elwelly and Clauda Tanios in Dubai and Angelo Amante and Giuseppe Fonte in Rome and Parisa Hafezi in Dubai; writing by Cynthia Osterman; editing by; Deepa Babington)

Advertisement

Source link

Continue Reading

Business

Story that speaks to lack of co-ordination at the UN

Published

on

Andrew Jack’s article on the Model UN for schools (“Students learn from Model UN to handle disagreements diplomatically”, Outlook, September 26) says Model United Nations was created at Georgetown University in 1963.

As the organiser of the Model UN General Assembly held at Cambridge university in 1964, that claim comes as a surprise, as when contacted back in 1963, we were told by the UN that we were the first to host such an event. Such is British-American rivalry!

The Cambridge version was funded by a £20,000 donation from Roy Thomson, owner of the Sunday Times, and this paid for student delegations to come for a week from further and higher education institutions across the UK. The 7,000-strong membership of the Cambridge University United Nations Association (CUUNA) was an example of the international idealism that then permeated the university.

Attending this year’s UN General Assembly and the Summit of the Future event and recalling the frequent cynicism about the ability of the UN to resolve major issues in today’s world, I am pleased to see the Model UNGA format continues, albeit now more at high school than university.

Advertisement

Anthony Colman
Chair, CUUNA 1963-64, Aylmerton, Norfolk UK

Source link

Continue Reading

Trending

Copyright © 2024 WordupNews.com