Latest news with #geneticmutation
Wall Street Journal
5 days ago
- Health
- Wall Street Journal
Three Siblings, One Fatal Gene: A Family's Fight Against Early-Onset Alzheimer's
Hannah Richardson is hopeful about her future and its endless possibilities. But the 24-year-old's plans are clouded by an unthinkable reality—there is a 50% chance she will develop Alzheimer's disease in her 30s. Hannah's family has a history of a rare genetic mutation that, when inherited, virtually guarantees that the carrier will die of an aggressive form of Alzheimer's early in life. No drug has been found to stop it. But now researchers are exploring a new avenue: Could pre-emptive treatment slow or even halt the memory-robbing disease in people at high risk of developing it?
Daily Mail
11-06-2025
- Health
- Daily Mail
How a plague of 'mutating' super rats are taking over Sydney and becoming resistant to poison: 'Impossible to kill'
Black rats in Australia's biggest cities have developed a genetic mutation that increases their resistance to one of the most widely used poisons. New research led by Edith Cowan University PhD student and environmental toxicologist Alicia Gorbould found the mutation in over half the rats tested in Brisbane, Melbourne, Perth and Sydney between 2021 and 2024. The mutation suggests the rats have developed a resistance to second-generation anticoagulant rodenticides, also known as SGARs, but other animals continue to be inadvertently killed by these types of rat poison. SGARs are deadly to secondary predators, such as tawny frogmouths, Australian boobooks and eastern barn owls, that feed on rodents. Black rats are the most common introduced rat in Australia and experts warn their increase in resistance to poison could pose a serious risk to the country's wildlife. Ms Gorbould also expressed fears of a public health crisis as Australians may be using larger quantities of poison in an attempt to rid rats from their home. However, instead of working effectively, this would serve to introduce more poison into the food chain, and into waterways. Animals that consume the poison, which prevents blood clotting, die from internal bleeding. Research carried out by Ms Gorbould and her team found genetic mutation Tyr25Phe, which is associated with resistance to anticoagulant rodenticides, in 53.7 per cent of the rats they tested. The tests were carried out on the tails of 191 rails caught in Australia's fourth most populated cities. Alarmingly, the gene was found in over 80 per cent of black rats tested in Perth, over 45 per cent in Sydney, 39 per cent in Melbourne. Tyr25Phe was found in none of the 10 rats tested in Brisbane. 'If you're using one of the baits that don't work … people will probably try to use more, and more, and more,' she told Daily Mail Australia. 'And so it's feeding back into that cycle of increasing the rates of resistance in the population, increasing those non-targeted poisonings, and then we're ending up essentially with a public health issue because we've got these rats that can't be controlled.' Second-generation rodenticides are so potent they are banned in the United States, Canada and the European Union. The poison makes it way up the food chain and kills other animals in a huge risk to Australia's biodiversity. Scientists at Deakin University previously found rat poison was to blame for killing powerful owls. In 2022, in a study looking at the prey of powerful owls, the team dissected 160 possums. They found rat poison in 91 per cent of brushtail possums and 40 per cent of ringtail possums tested. Ms Gorbould urged Australians to consider against using rat poisons and instead look to non-poison alternatives. She suggested snap traps and electrocution traps while pointing out that 'prevention is better than cure'. The scientist advised the best thing people can do is make sure they don't have places for rodents to live by removing waste from their yards.
Yahoo
31-05-2025
- Health
- Yahoo
Sperm donor's genetic mutation linked to cancer in 10 conceived children
Sperm from a single donor in Europe has reportedly been used to conceive at least 67 pregnancies, although the donor carried a rare cancer-causing mutation. The donor's mutation has been linked to cancer diagnoses in 10 of these children, according to a report by The Guardian. The case was brought to light after two families separately contacted their fertility clinics after their children's cancer diagnoses were linked to a rare genetic variant called TP53. Prostate Cancer Risk Increases By 45% Among Men Who Share One Troubling Behavior A mutation in the TP53 gene causes Li-Fraumeni syndrome, which increases the risk of developing cancer. Cleveland Clinic states that this disorder comes with a 90% chance of developing some type of cancer by age 60, and a 50% chance by the age of 40. The European Sperm Bank, the sperm supplier, confirmed that this variant was present in some of the donor's sperm. Read On The Fox News App The Guardian reported that the rare variant was "not known to be linked to cancer at the time of donation in 2008." The genetic variant reportedly would not have been detectable through standard screening, and the donor is said to currently be in good health. Dr Edwige Kasper, a biologist at Rouen University Hospital in France, presented this case at the European Society of Human Genetics' annual conference in Milan last week, commenting on the need for 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 told The Guardian. "But this is the abnormal dissemination of genetic disease. Not every man has 75 children across Europe." 4 Troubling Cancer Trends You Must Know About In 2025 Kasper analyzed the mutation in her lab, concluding that it was most likely cancer-causing and that children born from this donor should "receive genetic counseling." The research-turned-investigation tracked down 67 children from 46 families in eight European countries. The children were tested, with the variant detected in 23 of them. The 10 who had been diagnosed with cancer reportedly included cases of leukemia and non-Hodgkin lymphoma. In a statement sent to Fox News Digital, the European Sperm Bank stated that donor-assisted reproduction "generally remains a significantly safer alternative" than reproduction without genetic screening. The bank added that sperm donors undergo a "comprehensive health screening," which includes an in-depth medical examination, a review of the donor's family medical history and "extensive" testing for genetic and infectious diseases. "However, it's not possible to rule out all risks — and, in this particular case, the identified mutation is one that could not have been detected by the screening methods we use in accordance with regulations and would require specialized genetic testing," the group noted. Julie Paulli Budtz, VP. of corporate communications at the European Sperm Bank, expressed to Fox News Digital that they are "deeply affected by this case." Click Here To Sign Up For Our Health Newsletter "The donor has been thoroughly tested even beyond the required standards, but preventative genetic screening is reaching its limits here," she said. "Every human being has about 20,000 genes, and 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." Budtz noted that the European Sperm Bank welcomes "continued dialogue" regarding setting an "internationally binding family limit," which they have advocated for "on several occasions, also at EU level." "This is also why, in addition to complying with national pregnancy limits, we have proactively implemented our own international limit of 75 families per donor," she added. In the U.S., there is no official legal limit on how many sperm donations one man can make. However, the American Society for Reproductive Medicine (ASRM) recommends that donors are limited to 25 live births within each population area of 800,000 people. "Institutions, clinics and sperm banks should maintain sufficient records to allow a limit to be set for the number of pregnancies for which a given donor is responsible," the ASRM states on its website. California Cryobank, which has claimed to have the largest selection of sperm and egg donations in the country, states on its website that it closely monitors donors to limit the total number of family units to 20 to 30 worldwide. "Limiting donor vials is an important part of the process," the bank noted. The U.S. Federal Drug Administration (FDA) requires that all sperm donors undergo a physical exam, complete a questionnaire, provide their medical history, and undergo screenings for infectious diseases at an FDA-approved lab. In addition, the ASRM suggests that donors undergo psychological and genetic screening, and also recommends infectious-disease testing of the recipient and the recipient's sexually intimate partners, per its website. For more Health articles, visit "Legal consultation and laws may vary by state," the organization notes. At California Cryobank, donors must be tested for infectious diseases, undergo genetic screening, get a psychological assessment and criminal background check, and receive screening for the Zika virus, according to the bank's article source: Sperm donor's genetic mutation linked to cancer in 10 conceived children
Daily Mail
29-05-2025
- Health
- Daily Mail
Must-know signs you have the deadly gene that almost guarantees cancer - as Kara Tointon announces double mastectomy
Former EastEnders star Kara Tointon has revealed that she has undergone a double mastectomy, following a genetic test which confirmed she carries the deadly BRCA mutation. While cancer is not usually inherited, some types—including breast, ovarian, pancreatic and prostate cancer—can be strongly influenced by genes. The majority of hereditary breast cancers are due to mutations in two genes, BRCA1 and BRCA2, which give you between 45-85 per cent chance of developing cancer in your lifetime. Those with a faulty BRCA gene also have a 50 per cent chance of passing it on to their children, meaning that cancer can sometimes run in families. So how do you know if you're at risk? The first sign you may be a BRCA carrier is having a close family member who developed one of three cancers under the age of 50, according to the National Cancer Institute. This includes breast, ovarian, male breast and pancreatic cancer. The relative affected must be a first or second degree relation—such as parent, sibling, grandparent, aunt, uncle, niece or nephew. Similarly, if you have one of these relatives with prostate cancer before the age of 80, it may be a red flag. About 62 per cent of those with harmful changes in BRCA genes will get prostate cancer by age 80, studies show. Another risk factor is having jewish ancestry. According to the NHS, one in 40 Ashkenazi jews have a faulty BRCA gene, compared to around 1 in 250 individuals in the UK general population. Sephardi jews are also at increased risk, with 1 in 140 having a mutated gene. Ms Tointon, 41, is now urging other women to look out for the signs that they could carry the gene—putting them at a very high risk of cancer. In a video posted to Instagram that has so far been viewed over 521,000 times, the mother-of-two said: 'You may have heard of the BRCA genes 1 and 2 and as a carrier it means I am at a greater risk of both breast and ovarian cancer.' 'There is a history of both cancers in my family on my mother's side but for various reasons, including generational trauma, we hadn't looked into [genetic testing] until that point.' In 2018, the soap star was given the option to take a genetic test when her mother Carol, was undergoing treatment for ovarian cancer, which affects up to 58 per cent of women who inherit a faulty BRCA1 gene. 'It was put to us, we took the test and it was confirmed that my mum and I both carried the gene', Ms Tointon explained. Her mother died just a year later in 2019. Now, after having her second son in 2021, Ms Tointon has revealed that she underwent two preventative surgeries, including a double a mastectomy and the removal of her fallopian tubes. 'They believe that ovarian cancer begins in the fallopian tubes, so by removing them first, checking them out, you then remove the ovaries later, and closer to menopause', the EastEnders star explained. Hollywood star Angelina Jolie underwent the same procedure after she discovered she carried the BRCA1 gene, in 2013, raising greater awareness of the defect. She was told at the time that her risk of developing breast cancer was 87 per cent. Around one in 1,000 women in the UK are thought to have the BRCA1 variant, but most breast and ovarian cancers occur due to genetic damage that accumulates over time. This can be caused by too much ultraviolet radiation from the sun, which can damage DNA in your skin cells causing skin cancer. In some cases, patients with the faulty genes may be offered risk-reducing surgery, which removes tissue such as breasts or ovaries, that could become cancerous. This is because while having one 'normal' copy of either gene is usually enough to protect cells from becoming cancerous, , this normal gene can change during a person's lifetime—in a process known as somatic alteration—increasing the risk of cancer. The NHS warns that while genetic testing can help people take steps to manage their risk of developing cancer—including lifestyle changes, regular screening and preventative treatments—a positive result can cause permanent anxiety. This comes as new research has highlighted a drug that could help women with the so-called Angelina Jolie cancer gene to avoid surgery. Currently, women who carry a BRCA gene mutation are a much higher risk of breast and ovarian cancer, with many opting for preventative treatments such as a mastectomy. But new research by the University of Cambridge indicates that giving drugs usually administered in the late stages of breast cancer to healthy people carrying the mutated BRCA genes could prevent them from developing the disease.
CNN
27-05-2025
- Health
- CNN
Sperm donor with rare genetic mutation fathered 67 children. Ten now have cancer, prompting calls for reform
The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births allowed from a single donor. Sperm from the donor was used to conceive at least 67 children from 46 families born between 2008 and 2015, said Edwige Kasper, a biologist at Rouen University Hospital in France, during a presentation at the annual conference of the European Society of Human Genetics in Milan on Saturday. Ten of the children have already been diagnosed with cancer. 'At the heart of the problem seems to lie the regulation, or maybe the lack of regulation, of the number of births by a single donor,' she said. Analysis showed that the donor, who is himself healthy, had a rare mutation in a gene named TP53, which is likely to cause Li-Fraumeni syndrome, a rare disorder that increases a person's risk of developing cancer. The mutation was not known when the donation was made, but children born from this donor have since been identified in eight different European countries: Belgium, Denmark, France, Germany, Greece, Spain, Sweden and the United Kingdom, said Kasper in her presentation. Ten of them have been diagnosed with cancers such as brain tumors and Hodgkin lymphoma, and another 13 children are carrying the gene but have not yet developed a cancer. They will require regular medical examinations due to their increased risk of developing cancer, and have a 50% chance of transmitting it on to their own children, said Kasper. 'The follow-up protocol involves whole-body MRI scans, MRI scans of the brain and, for adults, of the breast, ultrasound examination of the abdomen, and a clinical examination by a specialist. This is heavy and stressful for carriers, but we have seen its effectiveness in that it has enabled early detection of tumours and thus improved patients' chances of survival,' said Kasper in a press release. Unlike in some cases of serial sperm donors, such as a Dutch man who was ordered to stop donating sperm after being found to have fathered between 500 and 600 children around the world, this man only donated to a single private sperm bank in Denmark named the European Sperm Bank. Julie Paulli Budtz, vice-president of corporate communications at the European Sperm Bank, told CNN that it was 'deeply affected by this case.' 'The donor has been thoroughly tested even above the required standards, but preventative genetic screening is reaching its limits here,' she said in a statement sent to CNN on Monday. 'Every human being has about 20,000 genes, and 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.' There is currently no limit on the number of children that are allowed to be born using a single donor, something which Budtz said the European Sperm Bank would like to change. 'This is also why, in addition to following national pregnancy limits, we have proactively implemented our own international limit of 75 families per donor,' she said. This limit is self-imposed as regulations vary from country to country. For example, France has a limit of 10 births per donor, while Denmark allows 12 and Germany allows up to 15, according to the press release. 'There is a major issue here concerning a lack of harmonised regulation across Europe,' Kasper said in the release. 'We need proper regulation at European level to try to prevent it happening again, and to implement measures to ensure a worldwide limit on the number of offspring conceived from the same donor.'
