Latest news with #NewEnglandJournalOfMedicine
Al Jazeera
17-07-2025
- Health
- Al Jazeera
Babies born in UK using DNA from three people to avoid genetic disease
Eight healthy babies have been born in the United Kingdom using a groundbreaking new IVF technique involving DNA from three people, offering hope to families with mitochondrial diseases, according to a world-first trial. Experts at Britain's Newcastle University and Monash University in Australia published the results of the much-awaited trial on Wednesday in several papers in the New England Journal of Medicine. These genetic diseases, which affect one in 5,000 births and have no cure, can cause severe symptoms like vision loss and muscle wasting. The new procedure, approved in the UK in 2015, uses DNA from the mother's egg, the father's sperm and a small amount of healthy mitochondrial DNA from a donor's egg. This has led to the controversial but widely used term 'three-parent babies', though only about 0.1% of the baby's DNA comes from the donor. Out of 22 women who underwent the treatment at the Newcastle Fertility Centre in northeast England, eight babies were born. The four boys and four girls now range from less than six months to more than two years old. For six of the babies, the amount of mutated mitochondrial DNA was reduced by 95-100%, and for the other two, it was reduced by 77-88%, which is below the disease-causing threshold. The children are currently healthy, although their long-term health will continue to be monitored. Despite this success, the procedure remains controversial and is not approved in many countries, including the United States and France. Opponents cite ethical concerns, including the destruction of human embryos and fears of creating 'designer babies'. However, experts argue that for families facing devastating mitochondrial diseases, the benefits of this procedure are clear and life-changing.
Yahoo
12-07-2025
- Health
- Yahoo
Diabetic Woman No Longer Needs Insulin After Single Dose of Experimental Stem Cells
A Canadian woman with type 1 diabetes spent nearly a decade dependent on her glucose monitor and insulin shots — but after a single dose of manufactured stem cells implanted into her liver, she's now free. In an interview with CTV, 36-year-old Amanda Smith of London, Ontario described how it felt to be part of such a groundbreaking experiment that has allowed her body to once again produce its own insulin. "I remember, like, being scared and excited," Smith said of the study, "and it's history now." Although things are improving for type 1 diabetics, whose pancreases cannot produce their own insulin, the condition still requires ample maintenance and most often results in at least 10 to 12 years being taken off one's life. Diagnosed at 25 with late-onset juvenile diabetes, the woman said that the prognosis for the disease always felt like a "death sentence." "The end is always some sort of complication with diabetes," Smith said. After enrolling in the stem cell study, which is the subject of a new paper in the New England Journal of Medicine, all that changed for the Ontario woman. Smith and 11 other participants on both sides of the border were implanted with special embryonic stem cells, which were altered to grow in the liver and transform into a hormone-producing array of cells that secrete insulin the way a non-diabetic's pancreas does. Of that study cohort, 10 of the 12 stopped needing insulin shots for at least a year — and according to Trevor Reichman, the surgical director of the University Health Network in Toronto's diabetic transplant program and lead author of the paper, the study's "biological replacements" took hold in seconds. "In the liver, they're sensing a patient's blood glucose level, and they're secreting the appropriate hormone," Reichman said of the stem cell implants. "Essentially, it's the same as your native... cells would function." Incredible as these results are, there is a catch: to keep the stem cells working, patients must take immune-suppressing medications so their bodies don't reject the implanted cells — which means they've become more susceptible than most to illness. (Charlbi Dean Kriek, the star of 2022's "Triangle of Sadness," had been on immunosuppressants for a decade following a spleen removal when she died of an infection soon after the film came out.) For Smith, who on August 1 will celebrate her two-year implant-iversary, swapping quality of life for her old insulin shots and the threat of diabetic comas was a no-brainer — even if it means she's more vulnerable to sickness. "Taking a couple of pills three times a day is nothing," she said of her medication regimen. "I take it with breakfast, lunch, and dinner. It's easy." Still, such immunosuppression is no joke. As Reichman told CTV, one of the study cohort patients died, and the culprit may well have been an illness they caught while on said immunosuppressants — which is why the next phase of research will be into stem cell implants that the body won't reject. More on diabetes: RFK Jr. Surprised to Learn He'd Cut a Grant For Youth Diabetes Research
Medscape
11-07-2025
- Health
- Medscape
Witness to a Revolution: A Blood Cancer Expert's Long View
Hematologist Robin Foà, MD, has done more than simply watch his specialty transform over the past 50 years. He's helped to lead the revolution in blood cancer care, especially for the treatment of Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL). Foà is now a professor emeritus of hematology at Sapienza University of Rome, Rome, Italy, and he says he's 'officially retired' and should be taking it easy. But he's still working. This year alone, Foà has co-authored at least nine published studies, plus a guide for treating adult Ph+ ALL for the journal Blood , a commentary in the Cell Press journal Med , and a review article for The New England Journal of Medicine about 25 years of progress in treating the disease. In an interview, Foà spoke about his professional journey, the past and future of hematology, and his love of chronicling the world through photography. Can you tell us about your early life and how you came to hematology? It's a complicated family story. I was born in England because my father had to leave Italy in late 1938 or 1939 due to the racial laws because he was Jewish. From Torino, Italy, he went first to Paris, France, then to England. When World War II started in 1940, being Italian, he was considered an enemy and interned. In the Lake District he met my mother, who was a teacher from Wallsend in Northumberland. They married in September 1945, after the war finished. Following the war, my family had a choice between reuniting in New York, where my grandparents and my aunt had spent the years of the war, or returning to Italy. They chose Italy. I was borne in Wallsend and grew up in Torino, where I graduated from medical school and initially worked in the pediatric clinic. How did you end up at Hammersmith Hospital in London? That's a strange twist of fate. When I was a medical student in Torino, the professor of pediatrics organized a meeting and invited someone from London — Professor Gordon Hamilton-Fairley, who became Sir Gordon. I was asked to help with translation at the airport. When I took him back, he said if I ever needed help in the future, to get in touch. Years later, when I wanted to work in London, I had two options. Tragically, Professor Hamilton-Fairley was killed by an IRA bomb in London in 1974 — he was taking his dog for a walk when it touched something under a car. The other contact person in London was Daniel Catovsky, MD, at the MRC Leukemia Unit, Hammersmith Hospital, London. What was Hammersmith like in those days? Hammersmith in the mid-1970s was one of the centers of hematology in the world. I spent 3 years there, and it completely changed my life. I went from pediatrics to working on chronic lymphocytic leukemia [CLL], which doesn't exist in children. It's a disease of the elderly. You've witnessed dramatic changes in leukemia treatment. How do today's outcomes compare to what you saw early in your career? It's been a revolution. Take CLL — the most frequent leukemia in the Western world. In the old days, the only option was chemotherapy. Nowadays, chemotherapy is almost not used anymore, at least in developed countries. We have targeted drugs that provide better survival, better disease control, and fewer long-term side effects. Even more striking is acute promyelocytic leukemia. Through research, we understood that it's a matter of blocked differentiation of leukemic cells. Now, acute promyelocytic leukemia is cured in the large majority of cases without chemotherapy, using all-trans retinoic acid and arsenic trioxide. What has your work with Ph+ ALL produced? This has been one of my major focuses. Based on the results obtained in chronic myeloid leukemia [CML], at the end of the last century we designed the first protocol to treat older patients with Ph+ ALL using only the TKI imatinib plus steroids in induction — and no chemotherapy. It was revolutionary because this was considered the most lethal hematological malignancy. We found that all patients went into remission. Since then, in all national protocols conducted by the Gruppo Italiano Malattie Ematologiche dell'Adulto[Italian Group for Hematological Diseases of Adults], adult patients — with no upper age limit — received a second- or third-generation TKI, dasatinib or ponatinib, plus steroids. More recently, we added immunotherapy with blinatumomab, a bispecific monoclonal antibody in consolidation. We published the results of the dasatinib-blinatumomab trial in The New England Journal of Medicine in October 2020. It showed virtually all patients achieved remission with 88% disease-free survival at a median follow-up of 18 months. The follow-up, published in the Journal of Clinical Oncology in December 2023, showed that you have survival rates between 75% and 80% at four and a half years, the best data ever reported. Half of the patients never received chemotherapy or transplant. What's the significance of avoiding chemotherapy and transplants? I can give you a real example. Many years ago, a young woman from Eastern Europe came to see me. She must have been in her 20s. She was diagnosed with CML and told she needed imatinib for life. When she asked about the cost — possibly over 50 years of treatment — her family said it was literally impossible to afford. The alternative offered was transplant. The pill would obviously be the best option. So I told her to come back as an undocumented immigrant, present to our emergency room, and we would treat her because in Italy, we're obligated to treat all patients regardless of status. She did that. She came, and we could give her the drugs. This shows the tragedy — offering a transplant with high mortality risk instead of a simple oral medication because of cost. You were the president of the European Hematology Association (EHA). What did you focus on during your tenure? I stayed for 6 years in leadership roles — 2 years as president-elect, 2 years as president, and 2 years as past president. In other years, I was the chairman of the Education Committee and the Outreach Unit. It's been a great part for my life, no doubt about it. EHA has grown to become a very important society. I promoted outreach activities to more or less everywhere in the world. Big societies like EHA and American Society of Hematology have a duty to do this. They can help, and have indeed helped, other people. For all the work done, I was awarded the EHA Education and Mentoring Award in 2018 and the EHA José Carreras Award in 2023. What challenges do you see on the horizon for hematology? The main challenge today is accessibility and sustainability. We have precision medicine that changes prognosis, but costs are high. It's unacceptable that only the very wealthy can afford these treatments. We need to make them feasible for as many people as possible. Also, we need continued funding for research. The world is cutting funds everywhere, and all the advances I've discussed stem from research investment. We have the technologies now — single-cell analysis that's potentially phenomenal but extremely expensive. We need funds to utilize them. What advice would you give young hematologists? Hematology is a beautiful discipline that needs to combine clinical work with laboratory research. You need to work in the lab, understand the technology, and appreciate what can be derived from laboratory techniques. I could tell you stories of patients who write to me 20 years later who should have been dead but are still alive. I'm writing up the story of four older patients with Ph+ ALL who lived many years on a TKI alone, even into their 90s! In the old days, they would have been dead in a couple of months. You're also an accomplished photographer with over 10 published books. How did that passion develop? I always loved traveling, and I started taking shots during my trip to Kenya in 1974 with a colleague who was an excellent photographer. I had a tiny Minox camera — the kind spies were using to take photographs of documents. You can imagine that trying to take a picture of an elephant in the savannah with a Minox was pathetic. When I saw my results compared to his, I got my first proper Nikon camera. I love traveling. Nature has always been a key point for me, but also people. I have so far published 12 photography books. What's next for your career? I'm officially retired, and I should relax. I no longer have any clinical or administrative responsibilities, which is a relief. I do continue to coordinate a large research group in Italy that I've had for 14-15 years, and that'll take me until the end of next year. This certainly keeps me very active. Do you have any final thoughts for our readers? We're living in an extraordinary time in hematology. We've moved from the worst outcomes to treating many leukemias without chemotherapy in a matter of 30 years, which isn't long in medicine. Every year we see advancements and improvements. The relationship with patients is completely different now because you're not telling them they're going to die. You're offering hope and often a cure. The key is combining rigorous science with compassion for patients and never lose sight of the global responsibility we have to make these advances available to all patients, regardless of where they live or their economic circumstances.
Daily Mail
02-07-2025
- Health
- Daily Mail
Men become infested with parasites after receiving infected organs across multiple states
Two New England men have been left riddled with parasitic worms after receiving a common organ transplant. The patients, 61 and 66, had each received one kidney each from the same donor, who was from the Caribbean. The first patient, who was not named, received the transplant from Massachusetts General Hospital in Boston and initially improved. But 10 weeks later, the man was re-admitted due to suffering from severe thirst and abdominal discomfort. A large purple rash, like a constellation of bruises, had also erupted across the skin of his stomach. The second patient, who was also unnamed, received their transplant at Albany Medical Center in New York and also improved at first. Eleven weeks later, however, he was also re-admitted with fatigue, worsening kidney function and a plummeting white blood cell count. Doctors were initially stumped as to what could be behind the complications, having ruled out Covid, the flu and bacterial infections — after a course of antibiotics did not improve their symptoms. However, samples from the first patient's abdomen, lungs and skin revealed a small ringworm called Strongyloides stercoralis. The second patient, meanwhile, was also found to have larvae from Strongyloides stercoralis in his stool. The bizarre cases were revealed in The New England Journal of Medicine last month, with doctors treating them as a cautionary tale for better regulation surrounding organ donation. Transplant organs, donors and recipients normally go through a battery of tests to minimize the risk of the organs being rejected by the body. Blood is tested for antibodies that might attack other tissues, while donors and recipients are both evaluated for infectious diseases like HIV and hepatitis. They are also usually tested for parasitic infections, but it's possible the donor was not evaluated for these. About 48,000 organ transplants take place in the US every year, of which kidney transplants are the most common — making up two-thirds of these procedures. The most common complication of the procedure is infection, which is common since recipients have to take medications that suppress their immune system. Doctors treating one of the man called the New England Donor Services and found the kidney donor had antibodies for Strongyloides, meaning the donor had encountered the parasite at some point. The recipients only had Strongyloides antibodies after their procedures and not before, meaning they likely got it from their organ donor. Strongyloides is a roundworm parasite that spreads by directly penetrating human skin that gets into contact with soil. Infections lead to stomach aches, diarrhea and rashes, but most patients don't know they're infected. The CDC doesn't consistently track US cases, though it's estimated Strongyloides hospitalizes thousands each year. The first patient was treated with ivermectin, a deworming drug touted for but largely unproven to treat conditions like Covid and cancer. The second patient received ivermectin and the similar drug albendazole. Both men have fully recovered.
Entrepreneur
01-07-2025
- Health
- Entrepreneur
Microsoft Says Its AI Diagnoses Patients Better Than Doctors
Microsoft AI CEO Mustafa Suleyman says that the AI tool is one step closer to providing high-quality medical advice for Copilot and Bing users. Microsoft says its new AI tool performs four times better than experienced human doctors at diagnosing complex health conditions — but the company's AI CEO says human physicians are still needed to help treat the illnesses. In a paper released on Monday titled "The Path to Medical Superintelligence," Microsoft introduced an AI tool that correctly diagnosed complex cases up to 85% of the time and arrived at the diagnoses more cost-effectively than human physicians. Related: 'No Longer Optional': Microsoft Staff Mandated to Use AI at Work, According to a New Report The team used more than 300 complex case studies from the New England Journal of Medicine (NEJM) and had the AI tool imitate a panel of physicians to find the right diagnosis. The AI tool asked questions of the data, recommended what tests the hypothetical patient should get, and arrived at a diagnosis as it learned more information. As researchers added more data to the AI tool, it updated its best estimate of the diagnosis in real-time and explained the reasoning behind its conclusion. Microsoft researchers said that the AI tool correctly "solved" more than eight out of 10 NEJM case studies — much better than the average success rate of two out of 10 for human physicians. The AI also ordered fewer hypothetical tests to arrive at the right diagnosis, making it more cost-effective than a human doctor. Human doctors are usually characterized by breadth, like a general family physician, or depth, like a specialist. The team noted that the AI tool demonstrated "clinical reasoning abilities" that "exceed those of any individual physician" due to its ability to combine both breadth and depth of expertise. The AI tool isn't ready for clinical use yet and will only be approved after safety testing and clinical validation. However, Microsoft AI CEO Mustafa Suleyman says it could help Microsoft provide "high-quality" health advice in response to the 50 million health-related queries it receives every day through its Copilot AI assistant and Bing search engine. "Although this is just early research, we're hoping that as we get this into production, it will give everybody access to very high-quality health information," Suleyman told Yahoo! Finance on Monday. Microsoft AI CEO Mustafa Suleyman at a company event about Microsoft Copilot on April 4, 2025. Photo byThe AI tool examines existing medical information, synthesizes it, and gives it back to humans at the right time — but it still needs human doctors to hold it accountable, Suleyman said. Doctors are also required to plan and oversee treatment after a diagnosis. "You definitely still need your physician," Suleyman told the outlet, adding that the AI tool will likely get rolled out "in partnership with physicians themselves." Related: Microsoft AI CEO Says Almost All Content on the Internet Is Fair Game for AI Training Microsoft is currently testing the AI tool in real clinical environments to see how it performs on the job before any broader rollout. Microsoft is one of the most valuable companies in the world at the time of writing, second only to Nvidia, with a market cap of over $3.6 trillion.
