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Eight babies born from pioneering IVF technique to prevent devastating disease
Eight babies born from pioneering IVF technique to prevent devastating disease

The Independent

time16-07-2025

  • Health
  • The Independent

Eight babies born from pioneering IVF technique to prevent devastating disease

Eight babies have been born in the UK thanks to a groundbreaking three-person IVF technique to prevent devastating disease, world-first data shows. Four boys and four girls, including one set of identical twins, have been delivered and are all doing well following treatment by a team in Newcastle, who pioneered the technique. One other woman is currently pregnant. The scientific method, known as mitochondrial donation treatment, is designed to prevent children from being born with devastating mitochondrial diseases that are passed down from their mothers. These illnesses can be fatal and often cause devastating damage to organs including the brain, muscle, liver, heart and kidney. Of the eight babies born, three are now aged under six months, two are aged six to 12 months, one is 12 to 18 months old, one is aged 18 to 24 months and one child is aged over two. All the babies are healthy and are meeting their milestones, according to the team from Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle University and Newcastle Fertility Centre. None of the eight babies shows signs of having mitochondrial DNA disease, which tends to affect around one in 5,000 births. The scientists said disease-causing mitochondrial DNA mutations, picked up in three of the children, are either undetectable or present at levels that are very unlikely to cause disease. The main lab method used by the team, known as pronuclear transfer (PNT), involves taking the egg from an affected mother, sperm from her partner and an egg from a donor who is free from disease. The mother of a baby girl born through mitochondrial donation said: 'As parents, all we ever wanted was to give our child a healthy start in life. 'Mitochondrial donation IVF made that possible. After years of uncertainty, this treatment gave us hope – and then it gave us our baby. 'We look at them now, full of life and possibility, and we're overwhelmed with gratitude. Science gave us a chance.' The mother of a baby boy added: 'We are now proud parents to a healthy baby, a true mitochondrial replacement success. This breakthrough has lifted the heavy cloud of fear that once loomed over us. 'Thanks to this incredible advancement and the support we received, our little family is complete. 'The emotional burden of mitochondrial disease has been lifted, and in its place is hope, joy, and deep gratitude.' Professor Sir Doug Turnbull, from Newcastle University and part of the team of researchers, said: 'Mitochondrial disease can have a devastating impact on families. 'Today's news offers fresh hope to many more women at risk of passing on this condition who now have the chance to have children growing up without this terrible disease.' In all the cases, the Newcastle team used the PNT technique after the egg was fertilised. For this, scientists transplanted the nuclear genome (which contains all the genes essential for a person's characteristics, such as hair colour and height) from the egg carrying the mitochondrial DNA mutation into an egg donated by an unaffected woman that had had its nuclear genome removed. Thanks to the procedure, the resulting baby inherits its parents' nuclear DNA, but the mitochondrial DNA is mainly inherited from the donated egg. Scientific progress in this area led Parliament to change the law in 2015 to permit mitochondrial donation treatment. Two years later, the Newcastle clinic became the first and only national centre licensed to perform it, with the first cases approved in 2018. Approval is given on a case-by-case basis by the UK's Human Fertilisation and Embryology Authority (HFEA). The new findings on the eight births, published in the New England Journal of Medicine, show that all the babies are developing normally. Aged 18 months, tests are carried out in areas such as gross motor skills, fine motor skills, cognitive and social development and language skills to check the babies are hitting milestones. The researchers will also check the children when they are aged five. Professor Bobby McFarland, director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders at Newcastle Hospitals NHS Foundation Trust, said he was confident the children would carry on developing normally. He added: 'If we're not picking up subtle signs of problems at five, then we're really very clear that is not going to be a problem.' He added: 'In my work…I see children in intensive care units up and down this country and that's not pleasant. 'It's very difficult for families to deal with these diseases, they are devastating… 'To see babies born at the end of this is just amazing really.' Mary Herbert, professor of reproductive biology at Newcastle University, added: 'PNT happens in the small hours of the morning – those long nights. And it has paid off. 'It's fair to say it's rewarding. In science though, periods of joy are fleeting and brief because you're always thinking what is the next challenge? How do we optimise it further?' She said the slight DNA mutations seen in three of the children are 'way, way below the threshold that would cause disease'. Peter Thompson, chief executive of the HFEA, said: 'Ten years ago, the UK was the first country in the world to licence mitochondrial donation treatment to avoid passing the condition to children. 'For the first time, families with severe inherited mitochondrial illness have the possibility of a healthy child. 'Although it's still early days, it is wonderful news that mitochondrial donation treatment has led to eight babies being born. 'Only people who are at a very high risk of passing a serious mitochondrial disease onto their children are eligible for this treatment in the UK, and every application for mitochondrial donation treatment is individually assessed in accordance with the law.' Dr Andy Greenfield, from the University of Oxford, said: 'It is a triumph of scientific innovation in the IVF clinic – a world-first that shows that the UK is an excellent environment in which to push boundaries in IVF; a tour de force by the embryologists who painstakingly developed and optimised the micromanipulation methods; an example of the value of clinical expertise, developed over decades of working with children and adults suffering from these devastating diseases, being used to support a new intervention and subsequent follow-up, potentially for many years.' Beth Thompson, executive director for policy and partnerships at Wellcome, said: 'This is a remarkable scientific achievement, which has been years in the making. 'The pioneering work behind mitochondrial donation is a powerful example of how discovery research can change lives.' Professor Dagan Wells, from the University of Oxford, said the study showed established methods for avoiding mitochondrial DNA diseases, such as preimplantation genetic testing, perform well and will be suitable for most women at risk of having an affected child. 'A minority of patients are unable to produce any embryos free of mitochondrial disease, and for those women the study provides hope that they may be able to have healthy children in the future,' he added.

'I know my lung cancer is terminal but I don't feel ill'
'I know my lung cancer is terminal but I don't feel ill'

BBC News

time09-06-2025

  • Health
  • BBC News

'I know my lung cancer is terminal but I don't feel ill'

A woman who was diagnosed with terminal cancer has praised the blood test which allowed her to get treatment sooner. Rebeca Proctor, 41, from Carlisle, was diagnosed with stage 4 non-small-cell lung cancer in the time she was part of a pilot study looking at whether a blood test could be used to determine the genetic variant of a cancer quicker than a typical said the blood test, also known as a liquid biopsy, had "saved her life". A liquid biopsy can detect tiny fragments of tumour DNA which circulate in the blood. This can help doctors figure out a cancer's specific genetic knowing this, a more personalised treatment can be offered, Prof Alastair Greystoke at Newcastle Hospitals suffering from breathlessness for months and going back and forth to the GP, Ms Proctor had an X-ray and CT scan which revealed she had cancer."It was in my lungs, it was my spine, my hips, my lymph nodes," she said. "It was scary." She was at hospital taking part in a pilot for patients with suspected lung cancer which was looking at the effectiveness of a liquid biopsy in these cases. The blood test confirmed the genetic variant of Ms Proctor's cancer 10 days before a typical tissue biopsy. It meant she could be started on the treatment best tailored to her cancer far sooner."My oncologist said if I wasn't started on the treatment I would have had weeks to a month left [to live]," she said. "I wasn't ready for that." 'Got my life back' Since starting Brigatinib in January, a drug tailored to the genetic variant of her advanced non-small cell lung cancer, Ms Proctor said she has been able to live a normal life again even though she still had a terminal diagnosis. She said she started feeling better about a week or so after taking the medication which she continues to take. "It's given me my life back which I hadn't had for months," she has four children, including a three and six-year-old."My health's back and I can do all the things I can do with the kids now," she said."It sounds silly but I know I'm terminal but I don't feel ill."NHS England announced last month that following the liquid biopsy pilot, the blood tests had been rolled out across the country for suspected lung cancer and advanced breast cancer said it would help reduce the time taken for people to access targeted therapies and reduce unnecessary treatment such as standard chemotherapy. Follow BBC Cumbria on X, Facebook, Nextdoor and Instagram.

Carlisle Mum gets earlier cancer treatment thanks to 'revolutionary' blood test
Carlisle Mum gets earlier cancer treatment thanks to 'revolutionary' blood test

Yahoo

time05-06-2025

  • Health
  • Yahoo

Carlisle Mum gets earlier cancer treatment thanks to 'revolutionary' blood test

A mother-of-two from Carlisle says she has been given her life back after receiving targeted cancer treatment. Rebeca Proctor, 41, from Carlisle, was diagnosed with stage 4 non-small-cell lung cancer in January. She was able to begin treatment earlier thanks to a new NHS liquid biopsy blood test, which identified a specific genetic mutation. Ms Proctor said: "When I found out I had stage 4 cancer it felt like I'd been punched in the gut, I was scared – I just thought about my children, and if I would get to see my little girl start nursery, and how I would explain my diagnosis to my children – it was just heart-breaking to think about. "But the medication has given me my life back and my kids have got their mum back. "I'm taking it day by day and for now the treatment is doing what it's meant to be doing and shrinking the tumour, and I've got my energy back. "I know I'm not going to be cured but I've come to terms with my diagnosis and the pills are stopping my cancer cells from spreading – we'll keep fighting this and dealing with what's been thrown at us." The liquid biopsy revealed she had an ALK genetic mutation, allowing her to start a targeted therapy, brigatinib. A traditional tissue biopsy confirmed the result around 10 days later. Ms Proctor is under the care of Dr Sally Hall, a consultant medical oncologist at the Northern Centre for Cancer Care in North Cumbria. The new blood test, now available across the NHS in England, detects fragments of tumour DNA in the bloodstream. It identifies genetic mutations that can guide personalised cancer treatment. NHS England recently announced that up to 15,000 patients with suspected lung cancer could benefit from the test each year. An NHS pilot found that lung cancer patients could start targeted treatment up to 16 days sooner using the liquid biopsy compared to standard tissue biopsies. The pilot also showed that some patients were able to avoid unnecessary chemotherapy and its side effects, improving their quality of life. Professor Peter Johnson, NHS national clinical director for cancer, said: "Liquid biopsies are leading us into a new era of personalised cancer care and it's fantastic that we are now able to expand the use of this revolutionary test on the NHS to help tailor treatment for thousands of patients across the country. "Cutting-edge genomic testing is helping us deliver more targeted and kinder care for patients, enabling some to avoid more intensive treatments such as further chemotherapy, which can have a huge impact." Professor Alastair Greystoke, co-clinical lead of the ctDNA pilot and honorary medical oncologist at Newcastle Hospitals, said: "This is the first ever national implementation of a 'liquid biopsy first' approach to the diagnosis and treatment of a cancer." "Not only has it led to faster and more precise treatment for patients with lung cancer, but we have also been able to show that this is a cost-effective measure for the NHS and set up the framework to evaluate this in other cancers going forward." Professor Dame Sue Hill, chief scientific officer for England, said: "This represents a real step-change in care for eligible lung and breast cancer patients on the NHS. "The liquid biopsy testing enables genomic mutations in the fragments of cancer that enter the bloodstream of these patients to be detected. "This testing is transforming care and helping clinicians match patients earlier, especially when cancer tissue may not be available, with potentially life-extending targeted therapies rapidly and with greater precision."

Prototype 'to light up' hidden breast cancers
Prototype 'to light up' hidden breast cancers

BBC News

time14-05-2025

  • Health
  • BBC News

Prototype 'to light up' hidden breast cancers

A prototype scanner designed to detect cancerous tumours in women with dense breast tissue could "ultimately save more lives", researchers say. Dense tissue shows up as white on mammograms, but tumours are also white - so they can be hard to detect. Developed by technology group Kromek in partnership with Newcastle Hospitals, Newcastle University and University College London (UCL), the new imaging uses a radioactive tracer that "lights up" breast cancers. The project is set to enter clinical trials once testing is complete. Dr Nerys Forester, a consultant breast radiologist at Newcastle Hospitals, said "around 40% of women have dense breast tissue, but this only becomes evident when they attend their mammogram". She said it was not usually a cause of concern as screening with mammogram was effective, but "women with dense breast tissue do have a slightly increased risk of getting breast cancer".When breasts are very dense they show up on a mammogram as white, she said, "so we are looking something white in the midst of potentially a lot of white tissue". It is often described as "looking for a little white cloud in a cloudy sky".Dr Forester said new technologies to improve the detection of cancer in dense breasts was "really important" and she was delighted with progress of the new prototype since the project began in 2022. "Our hope is that this technology could ultimately save more lives lost to breast cancer in the future," she said. Aly Murphy, a nurse and breast cancer patient, has been involved in the research, which she describes as "thrilling". The 65-year-old said she found out by accident that she had dense breast tissue and believes it is possible her cancer could have otherwise been been missed. She describes the project as "pushing the boundaries of screening, and that's what we really need to do". "I find it absolutely exciting. I think it's revolutionary." Technology company Kromek, based in Sedgefield, County Durham, holds contracts with the Ministry of Defence supplying nuclear radiation executive Dr Arnab Basu hopes his machine will also detect these difficult-to-diagnose breast cancers."It is very similar to nuclear medicine in other parts of diagnostic imaging," he said. "The patient will be injected with a tracer that is designed to deposit on nuclear cells."He said the technology allowed laser focus on the cancer cells, and they "literally light up". Prototype trials are now under way at Newcastle Hospitals. Its Northern Medical Physics and Clinical Engineering team is leading on the device regulation, and the National Institute for Health and Care Research HealthTech Research Centre in Diagnostic and Technology Evaluation is also involved. Prof Kris Thielemans, professor in medical imagine physics at UCL, said the collaboration between teams had "made excellent progress", adding he believed the technology had "considerable potential" for use beyond breast imaging. The project has received £2.5m from Innovate UK. It will enter clinical trials once the current phase of prototype testing is completed. Breast Cancer Now's Sally Kum said the charity "wholeheartedly" supported the "ongoing research into breast imaging technologies that could improve cancer detection in dense breasts".Ms Kum said if the government's UK National Screening Committee found that evidence supported a specific approach to measuring breast density and offering alternative imaging for screening women with dense breasts, "we'll push for those changes to be rolled out as quickly as possible across the UK".She added the charity still encouraged eligible women to attend mammogram screening when invited. Follow BBC North East on X, Facebook, Nextdoor and Instagram.

Breast cancer breakthrough as new super-fast scanner unveiled
Breast cancer breakthrough as new super-fast scanner unveiled

Daily Mirror

time23-04-2025

  • Health
  • Daily Mirror

Breast cancer breakthrough as new super-fast scanner unveiled

Experts believe a new 'super fast' scanner will find tumours that traditional mammograms often miss - and it takes just 10 minutes. A new super-fast scanner will help to detect breast cancer in just 10 minutes. The breakthrough offers hope for early detection in women with dense breast tissue. Experts believe it will find tumours that traditional mammograms often miss. Known as ultra-fast molecular breast imaging (UFMBI), the pioneering technology creates 3D scans and is specially designed to pick up cancers in women with dense breast tissue. It affects up to 40% of women and can make mammograms less reliable. A working prototype of the system has been developed and is currently being trialled in Newcastle. Current mammograms can struggle to spot breast cancer in dense tissue, where both the tissue and any potential tumours appear white on the scan, making it harder to see the difference. ‌ While extra scans like MRIs can help, they're expensive and take up to an hour to complete, and not ideal for routine screening. The new scanner uses a special tracer that 'lights up' cancer cells, offering greater precision, faster results, and much lower radiation exposure than existing systems. It also gives a clear 3D image, meaning doctors can pinpoint the exact location of any tumour more easily. Dr Nerys Forester, consultant breast radiologist at Newcastle Hospitals, said: 'Around 40% of women have dense breast tissue, but this only becomes evident when they attend their mammogram. This is not usually a cause for concern as screening with mammograms is effective, but women with dense breast tissue do have a slightly increased risk of getting breast cancer. "Finding new technologies that can improve our ability to detect breast cancer in dense breasts is really important. We are delighted with the progress we have made with Kromek, Newcastle University and UCL since the project began in 2022. Our hope is that this technology could ultimately save more lives lost to breast cancer in the future.' Dr George Petrides, consultant radiologist in Nuclear Medicine at Newcastle Hospitals, added: 'We are really excited by the advances in technology that are being achieved as part of the project. ‌ "This technology has the potential to make a real difference in breast cancer screening and aspects of the project could in fact have a wider impact in nuclear medicine scanning.' The project has received £2.5 million in funding from Innovate UK and will enter clinical trials once prototype testing is complete. Dr Arnab Basu, CEO of Kromek, said: 'Ultra-fast molecular breast imaging technology has the capacity to save women's lives by enabling earlier, faster, more accurate detection of aggressive breast cancers, especially in those with dense breast tissue where conventional mammography often fails. ‌ 'With cutting-edge cadmium zinc telluride detectors and advanced electronics, this technology delivers faster scans at a lower radiation dose, transforming a standard 2D image into a precise 3D view. Currently in prototype trials at Newcastle upon Tyne Hospitals, the system is poised to make breast cancer screening both more effective and accessible for those most at risk.' Professor Kris Thielemans, professor in medical imaging physics at UCL, told how the project represented "an important opportunity for advancing breast cancer detection and improving diagnostic options for women with dense breast tissue". He added: 'By developing this imaging technology, we are moving closer to making early detection accessible and more effective for a broader range of patients. 'Our collaboration has made excellent progress, and we are hopeful that this technology will play a key role in supporting better health outcomes. 'Furthermore, I believe that this novel technology has considerable potential for applications beyond breast imaging.'

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