Latest news with #EuropeanSocietyofHumanGenetics
Malaysian Reserve
3 days ago
- Health
- Malaysian Reserve
Rapid AI Karyotype Total Solution From China Makes a Big Splash
MILAN, Italy, May 30, 2025 /PRNewswire/ — From May 24 to 27, 2025, the annual conference of the European Society of Human Genetics (ESHG) 2025 held successfully in Milan, Italy. Hangzhou Diagens Biotechnology Co., Ltd. ( from China, made a stunning appearance with its rapid AI karyotype total solution, which received high recognition from the attending scholars. Diagens has developed the Rapid AI karyotype total solution based on iMedImage®, a globally leading general medical imaging model. This solution integrates an automatic cell harvester, a slide preparation and staining machine, an automatic cell microscopy scanning system, and an intelligent chromosome karyotyping analysis system. By leveraging four core advantages—full automation, in-depth informatization, pioneering intelligence, and unmanned processes—it has created a new type of unmanned smart laboratory. This laboratory achieves seamless 'sample input to report output' operations, significantly enhancing the speed and efficiency of sample processing and analysis while reducing laboratory costs. This advancement sets a new benchmark for the industry. During the conference, Professor Liang Desheng from the Center for Medical Genetics at Central South University in China presented a poster titled 'iMedImage®: an end-to-end foundational model for medical image recognition and its application in chromosome analysis.' Karyotyping, the gold standard for detecting chromosomal abnormalities, remains critical for diagnosing genetic and hereditary diseases. While AI effectively identifies numerical abnormalities, detecting structural abnormalities remains challenging. This abstract introduces iMedImage®, an innovative end-to-end foundation model for medical image recognition. When applied to chromosomal abnormality detection, iMedImage® demonstrated promising performance and significantly enhanced detection capabilities, achieving a diagnostic accuracy rate of 99.59%, sensitivity of 95.83%, and specificity of 100%. Additionally, the model demonstrates outstanding performance across multiple medical imaging fields, including cellular, pathological, ultrasound, X-ray, CT, and MRI, highlighting its broad application potential. The launch of Diagens rapid AI karyotype total solution represents a significant breakthrough in the intelligentization of cell experiments. It has received high acclaim from clients in Europe, Africa, South America, Asia, and other regions, with many expressing their intention to collaborate. This showcases Diagens' leading technology and innovation capabilities in the field of AI-driven healthcare. Looking ahead, Diagens will continue to adhere to the philosophy of innovation-driven development, constantly exploring cutting-edge technologies to contribute more Chinese power to the global healthcare cause. Learn more about Diagens and its solutions, please visit its website at or contact at sales@ Photo – View original content:
Yahoo
4 days ago
- Health
- Yahoo
Sperm Donor With Rare Mutation Linked to Cancer Sparks Debate
Originally appeared on E! Online A sperm donor with a rare genetic mutation linked to cancer is sparking debate about regulation of the practice. In the years between 2008 and 2015, sperm from the same donor was used to conceive at least 67 children from 46 families, Edwige Kasper—a biologist at Rouen University Hospital in France—revealed, per CNN, during a May 24 presentation at the annual conference of the European Society of Human Genetics in Milan. And of the children conceived using the unnamed donor's sperm, ten have already been diagnosed with cancer. 'At the heart of the problem seems to lie the regulation,' Kasper explained during the presentation, 'or maybe the lack of regulation of the number of births by a single donor.' While analysis proved that the donor was healthy himself, it also showed that he possessed a rare mutation in a gene named TP53, which is likely to cause a rare disorder that increases a person's risk of developing cancer called Li-Fraumeni Syndrome. More from E! Online Justin Bieber Reacts to Wife Hailey Bieber's $1 Billion Beauty Deal Savannah Chrisley Reunites With Todd Chrisley in Florida After Prison Release Eddie Murphy's Son Eric and Martin Lawrence's Daughter Jasmin Are Married The mutation was not known when the donation was made, Kasper clarified, but children born from this donor have since been identified in eight different European countries. And ten of them have been diagnosed with cancers such as brain tumors and Hodgkin Lymphoma. Another 13 children, per CNN, are carrying the gene but have not yet developed a cancer. Because of the children's increased risk of developing cancer, Kasper added that they will require regular medical examinations throughout their lifetimes. After all, they have been predisposed to have a 50% chance of transmitting the mutation onto their kids. At the time of donation, the man had only donated to a single private sperm bank, per CNN, The European Sperm Bank in Denmark. 'The donor has been thoroughly tested even above the required standards,' Julie Paulli Budtz, the organization's Vice President of Corporate Communications, told CNN in a statement. 'But preventative genetic screening is reaching its limits here.' 'Every human being has about 20,000 genes,' she added, '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.' And while there is currently no limit on the number of children that are allowed to be born using a single donor, per CNN, Budtz expressed her desire to change that. 'In addition to following national pregnancy limits,' she stated, 'we have proactively implemented our own international limit of 75 families per donor.' For the latest breaking news updates, click here to download the E! News App
Indian Express
4 days ago
- Health
- Indian Express
Sperm donor with cancer-linked mutation fathered 67 children across Europe; 10 diagnosed with cancer
A sperm donor carrying a rare genetic mutation associated with a high risk of cancer has fathered at least 67 children across Europe, with 10 of them now diagnosed with cancers including brain tumours and Hodgkin lymphoma, according to researchers speaking at a genetics conference in Milan. The donor, who remains healthy, carried a mutation in the TP53 gene, which can cause Li-Fraumeni syndrome—a hereditary condition that significantly raises the risk of developing cancer early in life. The mutation was undetected at the time of donation. 'This is heavy and stressful for carriers,' said Edwige Kasper, a biologist at Rouen University Hospital in France, who presented the findings at the European Society of Human Genetics annual conference. 'But we have seen [surveillance] enable early detection of tumours and thus improved patients' chances of survival.' According to Kasper, children conceived using the donor's sperm were born between 2008 and 2015 to 46 families in eight European countries: France, Belgium, Germany, Denmark, Sweden, Spain, Greece, and the United Kingdom. Thirteen of the donor-conceived children carry the mutation but have not developed cancer so far. They now require lifelong monitoring, including regular MRI scans and clinical evaluations due to their elevated risk and a 50% chance of passing the mutation to their own offspring. The donor had contributed exclusively to European Sperm Bank, a private facility based in Denmark. '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,' Kasper said. The European Sperm Bank responded in a statement to CNN, acknowledging the situation as troubling. 'The donor has been thoroughly tested even above the required standards,' said Julie Paulli Budtz, the bank's vice president of corporate communications. 'But preventative genetic screening is reaching its limits here. It's scientifically not possible to detect disease-causing mutations in every gene unless you know what you're looking for.' Unlike France, where sperm donors are limited to 10 births, Denmark allows up to 12 and Germany permits up to 15. The lack of uniformity across Europe is a key issue, as per experts. To prevent future cases, the European Sperm Bank said it has voluntarily implemented a self-imposed international limit of 75 families per donor, although this is above the legal limit in several individual countries. (With inputs from CNN)
India Today
5 days ago
- Health
- India Today
Sperm donor with cancer gene fathers 67 children, 10 of them have cancer now
A shocking case from Europe has ignited concerns over sperm donation regulations.A donor, who unknowingly carried a rare cancer-linked genetic mutation, has fathered at least 67 children, ten of whom have already been diagnosed with donor's sperm, used between 2008 and 2015, led to children being born in eight European countries, which has raised urgent questions about the limits placed on donor use and genetic screening The issue came to light during a presentation by Edwige Kasper, a biologist at Rouen University Hospital in France, at the annual European Society of Human Genetics conference in researcher explained that the donor carried a mutation in the TP53 gene, which is linked to Li-Fraumeni syndrome, a rare genetic disorder known to increase a person's lifetime risk of developing the time of the donations, the mutation was not known or detectable through standard genetic donor appeared healthy, and his sperm was distributed only through a private sperm bank in Denmark, the European Sperm Bank. However, years later, a pattern emerged as doctors across Europe began to notice a worrying trend among children conceived with his sperm. A donor, who unknowingly carried a rare cancer-linked genetic mutation, has fathered at least 67 children, ten of whom have already been diagnosed with cancer. () advertisementSo far, 10 children have developed serious cancers such as brain tumors, leukemia, Hodgkin lymphoma, and non-Hodgkin lymphoma. An additional 13 children carry the mutation and are at high risk of developing cancer in the future."This mutation acts like a ticking time bomb. Children who inherited it need lifelong monitoring with frequent and intensive screenings," Kasper said in a press have recommended regular whole-body MRIs, brain scans, and abdominal ultrasounds for affected the process is stressful and heavy, early detection has already helped catch some cancers early, giving affected children a better chance at makes this case more alarming is that there is currently no international limit on how many children can be born from a single sperm donor, according to a report by The the European Sperm Bank has since implemented its own limit of 75 families per donor, the damage may have already been done."This case is deeply troubling. We followed and even exceeded genetic screening protocols, but no test can screen for all 20,000 human genes unless you know exactly what to look for," said Julie Paulli Budtz, Vice President of Corporate Communications at the European Sperm Bank told complexity of sperm donations across borders also poses a significant donor sperm is distributed internationally, it becomes increasingly difficult to track outcomes and ensure the donor is reportedly still healthy and unaware of the mutation at the time of donation, the fact remains that his genetic variant has now impacted dozens of children and their families, many of whom now face lifelong medical team has called for genetic counselling for all affected children and for a serious review of sperm donation Watch
Yahoo
6 days ago
- Health
- Yahoo
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.'
