Sperm donor with cancer-causing gene passes on disease to 10 children
Twenty-three of the children, conceived between 2008 and 2015 across eight countries, have now been found to carry the variant, while some have been diagnosed with cancers such as leukaemia and non-Hodgkin lymphoma.
The case has raised concerns about the lack of internationally agreed limits on the use of a single sperm donor, and the difficulty in tracing a large number of families to inform them of a serious medical issue.
The news was uncovered after two separate families contacted their fertility clinics becaues their children had developed cancers that were linked to a genetic variant called TP53.
An analysis by the European Sperm Bank, who supplied the sperm, confirmed that the variant was present but was not known to be linked to cancer at the time of donation in 2008.
Dr Edwige Kasper, a biologist at Rouen university hospital in France, said: 'We need to have a European limit on the number of births or families for a single donor.
'We can't do whole-genome sequencing for all sperm donors – I'm not arguing for that,' she added. 'But this is the abnormal dissemination of genetic disease. Not every man has 75 children across Europe.'
She continued: 'I analysed the variant using population and patient databases, computer prediction tools and the results of functional trials and came to the conclusion that the variant was probably cancer-causing and that children born from this donor should receive genetic counselling.'
Children who have been shown to have the gene are advised to have whole body and brain MRI scans. They are also recommend to have breast and abdomen ultrasounds as adults.
Julie Paulli Budtz, a spokesperson for the European Sperm Bank, told The Guardian: 'We are deeply affected by this case.' She said the donor had been thoroughly tested but that 'it is scientifically simply not possible to detect disease-causing mutations in a person's gene pool if you don't know what you are looking for'.
She added: 'We welcome continued dialogue on setting an internationally mandated family limit and have advocated for this on several occasions. This is also why we have proactively implemented our own international limit of 75 families per donor.'
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
The Independent
9 minutes ago
- The Independent
Patients whose lives were ruined after being ‘needlessly given cancer drug for years' sue NHS trust
More than 20 patients who say their quality of life was wrecked when they were needlessly given a highly toxic cancer drug are suing the NHS trust involved. Some people were prescribed temozolomide – which should normally be used for only six months – for more than a decade during treatment by the University Hospitals Coventry and Warwickshire NHS Trust. They say the overprescribing left them with side-effects including secondary cancers and crippling fatigue. Earlier this year the Care Quality Commission was looking into at least 14 cases, but lawyers say more are emerging all the time. An investigation by lawyers Brabners found that, over the past two decades, numerous patients with brain and spinal tumours under the care of Professor Ian Brown were routinely exposed to prolonged and in some cases 'unnecessary' use of the chemotherapy drug, which has severe side-effects including extreme fatigue, confusion, sickness and seizures. The time periods temozolomide was given for allegedly ran contrary to medical and scientific guidelines. Standard NHS procedure is to use the drug over six months, and the drug manufacturer advises it be used for up to 12 months. One man said he was prescribed it for nearly two years longer than necessary, suffering extreme fatigue and low mood as a result. A woman in her twenties said she was misdiagnosed with cancer, receiving the drug needlessly for about eight years. Some patients are now having treatment for secondary cancers allegedly linked to overuse of temozolomide, the lawyers claim. Others claimed its prolonged use left them unable to pursue career ambitions and normal day-to-day activities because the chemotherapy was debilitating, with a long recovery time. Some reported loss of fertility or abnormal blood test results. The legal team says data shows that the trust's spending on the drug of £3.6m from 2009 to 2024 is 10 times that of other NHS oncology departments. The lawyers are now calling for an extended patient safety review and independent investigation, focusing in particular on treatment received by patients under Prof Brown dating back to 2006. The trust has been conducting an internal patient safety review, covering 2017 to 2023, when Prof Brown retired. A patient who identified only as Michael received an extra 22 cycles of temozolomide at the trust, despite his scans being stable. Prof Brown was not present during consultations, and Michael said he was always seen by a clinical nurse specialist. After suffering extreme fatigue and low mood, he learnt through news reports of mistreatment –not from the trust – that he should not have remained on treatment for so long, according to his lawyers. Another patient, identified only as Becky, says she received at least 100 cycles of the drug unnecessarily after being misdiagnosed with a brain tumour. Fiona Tinsley, head of medical negligence at Brabners, said: 'The extent of this scandal, and the physical and mental impact it has had on Prof Brown's patients cannot be underestimated.' She added: 'We believe there are many more patients out there who haven't yet come forward and some who may have sadly passed away. 'While we welcome the ongoing investigations being undertaken by the General Medical Council and Royal College of Physicians, we believe a full independent inquiry is necessary – including an extension of the trust's own review back to 2006 – not only to ensure justice for victims, but that processes are put in place to better identify and prevent such failings happening again.' A spokesperson for the trust told The Independent: 'We have comprehensively reviewed and spoken to all individuals who were receiving temozolomide (TMZ) treatment at the end of 2023 to ensure appropriate support and care plans are in place. 'A glioblastoma is an aggressive brain tumour with fewer than two per cent of patients surviving longer than 10 years. This is an extremely complex condition and all modes of treatment – surgery, chemotherapy and radiotherapy – carry the risk of complications and side-effects. 'National Institute for Health and Care Excellence (Nice) guidelines recognise that clinicians can exercise professional judgment appropriate to individual circumstances when offering treatment to patients. 'We have commissioned the Royal College of Physicians to conduct an independent review of a representative cohort of patients who received greater than 12 cycles of adjuvant TMZ between 2017 and 2023. 'As this process is ongoing, it would be inappropriate to comment further at this stage." It's understood that CQC inspectors have been in touch with the trust to understand the details, and seek assurances that patients are not at risk. The regulator will be reviewing more information to judge whether it needs to be involved.
The Guardian
2 hours ago
- The Guardian
Scientists find link between genes and ME/chronic fatigue syndrome
Scientists have found the first robust evidence that people's genes affect their chances of developing myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS), a mysterious and debilitating illness that has been neglected and dismissed for decades by many in the medical community. Early findings from the world's largest study into the genetics of the condition pinpointed eight regions of the human genome that were substantially different in people with an ME/CFS diagnosis compared to those without the illness. The discovery suggests that several variants of genes commonly found in the population raise the risk of developing the illness, though many people will carry the variants and never acquire it. Prof Chris Ponting, an investigator on the DecodeME study at the University of Edinburgh, called the results 'a wake-up call' that showed a person's genetics could 'tip the balance' on whether they would develop ME/CFS. 'These provide the first robust evidence for genetic contributions to ME,' Ponting said. 'There are many genetic variants that apply across the genome that predispose people to be diagnosed with ME.' More research is needed to develop diagnostic tests or screenings to identify people at high risk of ME/CFS. But scientists called the work a milestone that put the illness on an equal footing with other debilitating diseases and opened potential avenues for treatments. 'This really adds validity and credibility for people with ME,' said Sonya Chowdhury, chief executive of Action for ME and a DecodeME co-investigator. 'We know that many people have experienced comments like 'ME is not real'. They've been to doctors and they've been disbelieved or told that it's not a real illness.' Despite its long history, scientists understand very little about the causes of ME/CFS, though most patients report an infection before symptoms first appear. Typical symptoms include extreme tiredness, sleep problems, brain fog and a worsening of symptoms after physical or mental activities, known as post-exertional malaise, which can take weeks to recover from. It is estimated that 67 million people are affected by ME/CFS at an annual cost to the global economy of tens of billions of pounds. In the UK, the annual economic toll is calculated at more than £3bn. There is no test or cure for the illness. The DecodeME study, a collaboration between Edinburgh University, ME charities and patients, was launched in 2022 to explore whether genes play a role in who develops ME/CFS. For the latest work, researchers analysed 15,579 DNA samples from 27,000 people with ME/CFS and more than 250,000 people without the illness. The eight genetic regions that stood out in people with ME/CFS contain genes involved in immune defences and the nervous system. It will take more work to unpick the biology, but some gene variants may make people more vulnerable to ME/CFS by compromising their ability to fight bacterial and viral infections. Another genetic difference seen in ME/CFS is known from people with chronic pain, a symptom that many with ME/CFS also experience. 'Overall, what is happening here is the genetics align with how people with ME have described their illness,' Ponting said. Andy Devereux-Cooke, a DecodeMe co-investigator, said the findings would be huge for patients. 'The vast majority of the patient population essentially has been abandoned in one way or another, by families, the government, the medical system,' he said. 'This will be huge for the patient population. Even though it does not provide all the answers [and] it does not provide practical assistance, it is a welcome drop in the ocean towards turning the tide.' Among the many questions that remain is why ME/CFS affects far more women than men. Diagnoses are four times more common in women, but the study found no genetic explanation. Another question is whether long Covid overlaps with ME/CFS. While many symptoms are similar, the researchers found no genetic link between the two. 'One of the key things we're doing is enabling others to use their different approaches to ask and answer the same question,' said Ponting. Prof Anne McArdle, who studies ME/CFS at the University of Liverpool, said the results, which have not yet been published in a peer-reviewed journal, provided 'a solid basis' for future work that would hopefully help accelerate the development of a treatment for the devastating illness. Dr Beata Godlewska, who studies ME/CFS at the University of Oxford, recently used magnetic resonance spectroscopy to scan the brains of people with ME/CFS and long Covid. Those with ME/CFS but not long Covid had high levels of lactate in the anterior cingulate cortex, a brain region that integrates information about effort and emotion. This points to disrupted energy metabolism in the brain, and impaired mitochondria, the battery-like structures that provide energy inside cells. Godlewska said 'It's a very sad fact that people with ME/CFS are still disbelieved and the disease has been so neglected, especially when it comes to research funding. Hopefully this study will come with a benefit of both fighting the stigma, and convincing research funders that this is a truly biological condition.'
The Guardian
2 hours ago
- The Guardian
A moment that changed me: on the day of my first book deal, a mysterious hum overcame me
I developed tinnitus the same night I was offered my first book deal at the end of 2014. I'd received the news late-afternoon, then went out for cocktails with two friends to celebrate. I remember the evening well: we'd gone somewhere loud but not too loud; I ordered a fluorescent orange drink that I didn't enjoy. Before I went to bed, I spoke to my boyfriend on the phone. 'This could really change your life,' he said. Sometime in the early hours of the following morning, I woke up with a ringing in my ears that has not gone away since. Tinnitus often appears out of nowhere. Some describe it as like standing next to the engine of a plane, or caught within a colony of flying bats. The sound I woke with wasn't so bad: a sort of midpoint between the hiss of television static and the roar of the ocean. At first I thought it must have been coming from my phone, which was usually inches away from my face as I slept. I then searched my room for malfunctioning electronics, before realising with bracing horror that the noise was coming from inside my brain. The condition can be divided into three categories: subjective tinnitus (the perception of sound where there is none); objective tinnitus (where there is a sound within or close to the ear that another person can sometimes hear); and somatic tinnitus, which worsens with body movement. Mine was the former: a phantom sound. Little is known about what causes it, but one theory is that loud sounds damage the hairs in the cochlea, flattening them like stems of corn after a storm. The hairs normally pick up sounds and, without them, the brain seeks out sounds from other parts of the ear, sending back signals that translate to a perpetual illusory hum. I'd spent many years going to loud concerts and playing drums in a band, only occasionally protecting my hearing with earplugs. I started to blame myself. The first few days felt long and hard. It seemed absurd to be so troubled by what is basically an annoying sound, but its inescapability and totality was maddening. The world was suddenly bifurcated into quiet spaces, in which I had nothing to mask the tinnitus, and loud spaces, which threatened to damage my hearing further. I couldn't stop catastrophising: 'I will never hear silence again. I will always be too distracted to write. I will be driven mad by loud sounds.' I became anxious and, like 21% of tinnitus patients, I developed suicidal thoughts. My GP was unsympathetic, telling me it would not go away but I would get used to it – and no, I couldn't have any Valium. A few days before Christmas, I went to stay with my boyfriend's parents for the first time. Ironically, there were copies of the Max Ehrmann poem Desiderata all over the house – printed off in the guest room, hanging beside the bathroom sink. It was one of his mum's favourites; she identified strongly with the message: 'Go placidly amid the noise … remember what peace there may be in silence.' I read online studies about tinnitus compulsively. I discovered advice to seek out quiet spaces in which I could place my hands over my ears to get a measure of whether it was getting any better or worse. But this only exacerbated my nerves. On New Year's Day, I couldn't stop crying; I felt stuck in an abject state of misery and panic. I began hypnotherapy, hoping I could trick my brain into not hearing the never-ending noise. My hypnotherapist told me this was not how it worked. Instead, she tried to teach me how to separate my feelings of anxiety from the sounds in my ears, and how to relax; sending me away with audio files of women whispering about the sea. I began sleeping to the sound of brown noise – named after 'Brownian motion', the random movement of particles in a liquid – replacing one hum with another. I practised progressive muscle relaxation, my antidepressants kicked in and I began the long process of habituation – learning to tune out the unwanted, unstoppable sound. Just over a month after I first developed tinnitus, I was on holiday in Brasov, Transylvania – a 30th-birthday present from my sister and mum. Towards the end of the trip, the three of us were walking through the mountains, and when I looked back I realised I couldn't see either of them. I was surrounded only by recently settled snow. There was something about the white of the snow and the ringing in my ears that felt equivalent; blank and unintimidating, somehow. Tinnitus is often described as white noise, but white is achromatic – a colour that isn't really a colour. I knew then that I'd make peace with this sound that isn't really a sound, my new version of silence. That was a decade ago, and these days I've learned to accept and adjust. I'd railed so violently against my tinnitus, and achieved nothing. Now I acknowledge what I cannot change, and it doesn't bother me at all. In the UK and Ireland, Samaritans can be contacted on freephone 116 123, or email jo@ or jo@ In the US, you can call or text the National Suicide Prevention Lifeline on 988, chat on or text HOME to 741741 to connect with a crisis counselor. In Australia, the crisis support service Lifeline is 13 11 14. Other international helplines can be found at Do you have an opinion on the issues raised in this article? If you would like to submit a response of up to 300 words by email to be considered for publication in our letters section, please click here. This article was amended on 6 August 2025 to correct the quotation from Max Ehrmann's poem Desiderata.
