Latest news with #KJ
ABC News
5 days ago
- Health
- ABC News
World-first CRISPR therapy could 'transform' treatment for rare genetic diseases, but key challenges lie ahead
It's been described as a revolutionary technology — and won its inventors a Nobel Prize. CRISPR gene-editing, often simply dubbed CRISPR, is a tool that allows scientists to precisely target and modify the human genome, making it possible to correct mutations and potentially treat genetic causes of disease. Earlier this month, scientists used CRISPR technology to achieve a significant milestone: re-write the DNA of a baby with a rare genetic disease. The patient, a now-10-month-old boy named KJ, is the first person in the world to successfully receive a personalised gene-editing therapy. The landmark case, led by scientists and doctors at the University of Pennsylvania and the Children's Hospital of Philadelphia, was published in the New England Journal of Medicine. Not long after he was born, KJ was diagnosed with a rare, life-threatening genetic disorder called CPS1 deficiency, which affects just one in 1.3 million babies. The disorder is caused by a mutation in a gene that affects a person's ability to properly metabolise protein, and results in toxic levels of ammonia to build up in the body. Unlike other CRISPR treatments, which were designed to be used in multiple people with the same disorder, KJ's therapy was customised to correct his specific disease-causing mutation. "This is a significant advance in our ability to modify human genes," said haematologist and gene therapy researcher John Rasko, who was not involved in the study. While it's too early to know whether the CRISPR treatment will work long-term, researchers say it could provide a blueprint for developing customised gene-editing therapies for others with rare diseases. "While KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' said lead researcher Rebecca Ahrens-Nicklas from the Children's Hospital of Philadelphia. The high levels of ammonia caused by KJ's CPS1 deficiency can cause severe damage to the brain and liver and even prove to be fatal. The best available treatment for the condition is a liver transplant, but only about half of babies with CPS1 deficiency live long enough to receive one. Scientists at the University of Pennsylvania had been investigating gene-editing therapies for similar genetic disorders and when KJ was diagnosed, they quickly mobilised to create a treatment to fix his specific mutation. To do this, they used a "genetic engineering trick" called CRISPR base editing, a second-generation CRISPR tool, said Marco Herold, CEO and head of the Blood Cancer and Immunotherapy Lab at the Olivia Newton-John Cancer Research Institute. "The researchers identified through [genome] sequencing that this mutation was the result of a change in DNA bases," Professor Herold, who was not involved in the study, told The Health Report. DNA sequences are made up of four different "letters" which represent different chemical bases. The order of these letters or bases determines the genetic information carried in the DNA. "[CRISPR technology] scans the DNA and runs over all the letters until it encounters the wrong letter — it can be programmed to find this," Professor Herold said. Unlike traditional CRISPR medicines, which bind to the target DNA, cut it, and silence or repair a problematic gene, base editors convert target DNA from one letter into another. "In this case, the letter was an A and it had to be changed into a C … and that leads to the repair," said Professor Herold, whose own research focuses on CRISPR screening and editing. KJ, who had been on a highly restrictive diet since birth, as well as medication to remove ammonia from his blood, was given a small first dose of the novel gene-editing therapy at seven months of age. Over the next two months, he received two more infusions at higher levels. Since the treatment, he's been able to eat a full protein diet and take just half his usual medication — a sign the therapy has, at least partially, reversed his disease. 'While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising,' Dr Ahrens-Nicklas said. Professor Rasko, chair of the federal government's advisory committee on gene technology, said the speed at which the drug was developed was "extraordinary". But he stressed that longer follow up was needed to assess its safety and efficacy, and determine whether additional doses would be necessary. "These are very early days," Professor Rasko said. "Everything is looking great but let's wait a year and see what's going on." It's estimated there are more than 5,000 genetic diseases, which, while rare individually, affect hundreds of millions of people worldwide. In Australia, around two million people — or 8 per cent of the population — live with a rare disease, 80 per cent of which have a genetic cause. But the lack of economic incentive for pharmaceutical companies to develop drugs for extremely rare conditions has led to a scarcity of effective treatments, Professor Rasko said. "Of the 5,000 plus rare genetic diseases, we have a treatment that's specific for less than 5 per cent," he said. Peter Marks, who until recently was responsible for overseeing gene-therapy regulation at the US Food and Drug Administration, described KJ's therapy as potentially "transformational" for the treatment of rare genetic diseases. "Although not all rare diseases may be eligible for a gene-editing approach … there could be hundreds to thousands of diseases that could be treated through an approach similar to the one described," he wrote in an editorial for the New England Journal of Medicine. While KJ's treatment was targeted to his specific mutation, Dr Marks said the same technology could be adapted and "customised" to correct other rare genetic mutations, reducing the cost and complexity of developing new drugs. Professor Herold agreed the same approach could be taken to treat other illnesses caused by a single mutation, with only the CRISPR instructions needing to be changed. "But if you have multiple mutations … there are a lot of diseases that are made up of four, five, six different mutations, then it becomes difficult," he said. "We are not there yet, but we're working at this." Despite the promising results seen in KJ's case, there are several key challenges that need to be addressed before personalised gene-editing could be scaled up and expanded. For one, developing treatments that can successfully reach parts of the body other than the liver — where KJ's mutation occurred — is more difficult, and will require further research. "Because the liver is like a big sieve that processes poisons, toxins, and manufactures hormones and other proteins … the lipid nanoparticles [which encase the gene-editing products] get taken up there," Professor Rasko said. Even though KJ's treatment was a "breathtakingly impressive" proof of concept, replicating and adapting it for other patients would still be resource intensive, he added. "Every time we do this, we have to alter the guide DNA and the technology has to change. It has to be quality-controlled, it has to pass some form of regulatory approval … it's not just a one size fits all." A more established therapeutic approach called gene addition therapy, which involves introducing a working copy of a gene (rather than correcting one), had been a "scientific and medical success" but "an economic failure" to date, Professor Rasko said. "Companies that have been valued at billions of dollars have had to walk away because they can't recoup their costs without charging millions of dollars a pop for these genetic therapies," he said. But, he said, the rate of development and innovation in the field of gene editing — which may help to solve some of the challenges — was "awesome". "You just can't keep up." Listen to the full story on Radio National and subscribe to the Health Report podcast for more.
Yahoo
20-05-2025
- Health
- Yahoo
Scientists Edited Genes Inside a Living Person for the First Time—and Saved His Life
"Hearst Magazines and Yahoo may earn commission or revenue on some items through these links." Here's what you'll learn in this story. The world's first bespoke gene therapy saved the life of a newborn with a rare genetic disorder that cause the build-up of life-threatening ammonia in the body. In a race against time, scientists and doctors across the U.S. developed the first in vivo gene therapy, thanks to decades of medical research. After three doses, the newborn patient showed drastic improvement, and this new era of in vivo gene therapies could save the lives of millions more in the future. Life's ability to successfully copy three billion distinct letters in the human genome is an absolute biological wonder—but sometimes, mistakes are made. Whether inherited or formed in utero, genetic disorders and other birth defects are common, and occur in one in every 33 babies in the U.S., according to the Centers of Disease Control and Prevention (CDC). For all of human history, a person born with such a disorder likely had to live with the condition, and depending on the defect, those lives could be brutally short. But in 2025, human history changed forever. In a groundbreaking announcement, detailed in a study published in the New England Journal of Medicine, scientists, doctors, and specialists from institutions around the U.S.—including the Children's Hospital of Philadelphia, University of California-Berkeley, and Penn Medicine—successfully saved the life of a newborn patient named KJ, who had been born with a rare genetic disorder. To pull off this incredible medical feat, doctors employed the world's first custom in vivo (i.e. inside a living organism, rather than in a petri dish) CRISPR gene therapy. This technique, developed over decades thanks to U.S.-funded medical research, could help alleviate painful lives for millions of people born every year with now-fixable genetic disorders. 'Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible, and while KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' Children's Hospital of Philadelphia's Rebecca Ahrens-Nicklas, a co-author of the study, said in a press statement. The details of this incredible medical intervention play out like a made-for-tv medical drama, but the stakes were incredibly real and deadly serious. A week after his birth, doctors noticed something wasn't quite right with KJ. After ruling out a few possibilities, they stumbled across the unfortunate answer—a rare genetic disorder called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency that affects only one in every 1.3 million babies. This disorder inhibits the body's ability to get rid of ammonia, a product of protein metabolism. This can have deadly consequences, impact brain development, and wreak havoc on the liver. Usually, the treatment for a disorder like this is a liver transplant, but that was not an option for the infant boy, who was still too young to be considered for the surgery. So, once arriving at a diagnosis, Ahrens-Nicklas contacted a gene-editing specialist at the University of Pennsylvania named Kiran Musunuru and 'the clock start[ed]in my mind,' he later told The New York Times. Working with a team of specialists across the country for six months, Ahrens-Nicklas and Musunuru developed a targeted gene therapy to fix KJ's specific variant of CPS1. Meanwhile, KJ was kept under medical surveillance at the hospital and subsisted on a diet completely devoid of protein to avoid making his condition worse. By the time the CRISPR treatment was ready, KJ was in the 7th percentile for his weight. On February 25, the team began administering the treatment, with Ahrens-Nicklas and Musunuru describing the process as both exciting and terrifying. 'One of the most terrifying moments was when I walked into the room and said, 'I don't know if it will work but I promise I will do everything I can to make sure it is safe,'' Ahrens-Nicklas told The New York Times. The first infusion took two hours, and within two weeks, KJ began eating protein like a healthy baby. A second dose arrived 22 days later, and about two weeks ago, KJ received a third. Although it's unknown if he will eventually still need a liver transplant, doctors can now safely say that a human life has been saved thanks to the world's first bespoke in vivo gene therapy—a huge testament to decades of a research and experimentation. KJ is now at home with his family. 'We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life,' Musunuru said in a press statement. 'The promise of gene therapy that we've heard about for decades is coming to fruition, and it's going to utterly transform the way we approach medicine.' You Might Also Like The Do's and Don'ts of Using Painter's Tape The Best Portable BBQ Grills for Cooking Anywhere Can a Smart Watch Prolong Your Life?
The Hindu
20-05-2025
- Health
- The Hindu
Health Matters newsletter: Baby steps in personalised gene editing
On little Muldoon and potential cures for rare illnesses, climate change and India's escalating heat crisis, hypertension and how better nutrition may help, and more The biggest health story this past week, globally, was about little KJ Muldoon and what doctors could do for him. Muldoon, as the world knows him, is a U.S. infant with a rare condition who has become history's first patient to be treated with a personalised gene-editing technique. Besides raising hopes of cure or treatment for other people with obscure illnesses, the exact process of rehabilitating the nine-and-a-half-month-old KJ itself was simply fascinating. Being witness to medical history can be an upper in itself for some. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency, caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste. With the prognosis grim, either death or a liver transplant, doctors suggested something that had never been done before: a personalised treatment to fix the baby's genome using what amounts to a pair of molecular scissors -- the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The parents were in a dilemma, naturally, wondering if they should go conventional, or try this never before technique, but in the end, they agreed to have their baby go through this. Muldoon received an infusion created just for him to fix his genetic mutation -- incorrect DNA letters in the several billion that make up the human genome. 'The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalised medicine,' said Rebecca Ahrens-Nicklas, a member of the medical team who specialises in paediatric genetics. The team also wrote up the procedure in the mid May edition of The New England Journal of Medicine. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The authors argued that the results were promising for other people with genetic conditions. KJ can now follow a diet richer in proteins -- his condition prohibited such before -- and does not need as much medicine as he used to. But he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team said. Dr. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication some day. 'We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' she said. The story of KJ will be interesting to follow, for sure. As we are already at achievements, let's proceed in the same celebratory vein. US approved the first blood test for Alzheimer's this past week. The test, developed by Fujirebio Diagnostics, measures the ratio of two proteins in the blood. The ratio is correlated with amyloid plaques in the brain -- a hallmark of Alzheimer's that, until now, has been detected only through brain scans or spinal fluid analysis. Neurologists say they can offer patients a few additional months of independence -- and are likely to be more effective if started earlier in the disease's course. There are currently two FDA approved treatments for Alzheimer's: lecanemab and donanemab, which target amyloid plaque and have been shown to modestly slow cognitive decline, though they do not cure the disease. Also recording here, our story on the FDA's approval for Novavax COVID vaccine with new conditions. The license restricts the use of the vaccine called Nuvaxovid to individuals aged 65 and older, and those between 12 and 64 who have at least one underlying condition that increases their risk of developing severe illness from COVID. The letter did not specify what qualified as an underlying condition. B. Madhu Gopal wrote on an indigenous Low-cost test on anvil to detect life-threatening pregnancy complication of preeclampsia. More details in the link. In other news we cannot ignore, we look at several aspects of climate change, heat and the impact on the human body. Dr. Poornima Prabhakaran makes a very impassioned plea for preparing our cities and vulnerable to deal with India's escalating heat crisis. Places once known for their temperate climates, like Bengaluru and Shimla, are now registering record-breaking temperatures. This shift is more than just a summer inconvenience; it's a public health emergency in slow motion. While most of us experience heat as discomfort, for those living with non-communicable diseases (NCDs) — such as diabetes, cardiovascular diseases, or respiratory illnesses — the consequences can be fatal. Hit the link for some tips, and some examples that your States can all be inspired by. Zhebin Yu and Erik Melen in The Conversation talk about how new research reveals that Urban environments significantly increase risk of developing asthma. In context, scientists are increasingly exploring mechanisms that can help the body adapt to rising temperatures affecting our sleep and leading to health complications. In another piece in The Conversation, Arun Durvasula explains How your genes interacting with your environment impacts on disease risk. Studying gene-environment interactions can tell researchers not only about which genetic and environmental factors increase your risk of disease, but also what goes wrong in the body, and where. This story talks about how Climate change increases risk of pregnancy problems. A recent study looked at 247 countries and territories and in 222 of them 'climate change at least doubled the average annual number of pregnancy heat-risk days experienced during the past five years'. In yet another article that linked climate changed to women's health, Geetha Srimathi looks at How extreme heat and poor sanitation endanger the health of women in outdoor jobs. Liffy Thomas's interesting piece: Heat and medication: A bitter pill looks at how we need to be careful with our regular medication too, during summer. Afshan Yasmeen relies on a study to talk about how a Diet rich in fruits and vegetable actually lowers the risk of acute respiratory infection & anaemia linked to air pollution in children. It's always good to know there are some factors we can control about our own health, even if so many factors are beyond our reach or even comprehension, sometimes. On the subject of nutrition, we had a bunch of stories this week, explaining various aspects of how good nutrition actually determines quality of life and keeps various non communicable diseases at arm's length. Dr. Anuja Agarwala, in this riveting piece, talks about reimagining school nutrition to tackle childhood hypertension. While offering the school noon meal programmes as a means of arresting some of the NCD issues, she also says that as these programmes scale up, they have an opportunity to evolve above basic nutrition. Divya Bharti in The ingredient to turn around nutrition outcomes, argues that in India's long battle against malnutrition, women and girls remain the most overlooked section. Despite steady economic progress and numerous welfare schemes, nutritional inequality continues to be deeply gendered. Last week's the CBSE directive to schools to set up 'sugar boards' to monitor students' sugar intake got several thumbs up from nutritionists, paediatricians and non communicable disease specialists. Subba Rao M. Gavaravarapu and Bharati Kulkarni write specifically of Combating obesity among adolescents. Staying on the subject, R. Sujatha, writes about finding solutions through partnerships between engineering and biology for diabetes Do read on: Endocrinologists and engineers join hands to develop tech solutions for diabetes care . Dr. Y. Vijayachandra Reddy wrote on Understanding resistant hypertension and what can help on the occasion of World Hypertension Day (May 17), giving us insights into what is known as 'stubborn hypertension' and what specialised care is required to handle it. May is observed as Women's Health Month and to record that we had the following articles: Dr. D.C. Mathangi wrote about the struggle for work-life harmony among working women and how that impacts on her health. Meanwhile, Dr. Sapna Raina's piece on the occasion looks at the irrefutable link between Sleepless and pregnancy, and the impact on motherhood. Athira Elssa Johnson discusses Rising obesity among Indian women after a study called for science-based, community and lifecycle-oriented care. Moving on to an update on infectious diseases, the most prominent one, of course, is about COVID-19 resurgence. Bindu Shajan Perappadan quotes the Indian health ministry: COVID-19 cases see a surge in Singapore, Hong Kong; India reports 257 cases — all mild. We promise to follow this graph over the coming weeks. Abdul Latheef Naha's piece on yet another round of Nipah virus in Kerala: The return of the dread provides a great deal of information not only on this round, but on past episodes and the lessons learnt from those episodes. Do read this deep dive for clarity on the issue. There is the sobering news from across the seas about how Dengue, chikungunya may soon be endemic in Europe. There is no overemphasising the public health mantra 'no one is safe unless every one is safe' even as we grapple with the unexpected that climate change brings to us. This is a report on PM Modi's call for targeted interventions in TB elimination efforts. While chairing a high-level review meeting on the National TB Elimination Programme (NTEP), Mr. Modi urged officials to analyse TB patient data based on urban-rural distinctions and occupational categories. This will help identify vulnerable groups requiring early testing and treatment, especially workers in construction, mining, textile and other high-risk sectors, he said. In our e-paper column this week, we looked at the recent cough syrup ban in India, trying to understand the reasons behind it, and where we go from here. Rationalising a cough syrup ban in India, and steps ahead, is a collaborative story that draws from the experiences from many States. Paediatricians across the country have welcomed the move to restrict use of a common cold drug combination for children under the age of four and emphasised the need to not medicate unless warranted; pharmacists however, flagged confusion over whether prescriptions can be honoured and what should be done with existing stock. For more on the subject, do click on the link above. For the tailpiece of the week, you might accuse us of peddling monkey tales, but believe us, this one was serendipitously relevant to the patient, and our column. In our copy Monkey scare leads to unexpected diagnosis, facilitating treatment of a 32-year-old woman, we describe how in a striking turn of events, a routine day for a 32-year-old homemaker from Bengaluru turned into a life-saving diagnosis - thanks to a bizarre encounter with a monkey and the swift action of the neurosurgical team at a private hospital. While engaged in her daily chores, the woman was startled by a monkey that suddenly entered her home. In panic, she screamed and fainted suddenly. What followed was an intense, sudden headache medically known as a thunderclap headache. Initially hoping it was just a reaction to the panic, she tried to carry on. Finally she sought out a neurologist and was diagnosed with a brain aneurysm and subarachnoid haemorrhage, all of which were treated, happily for the patient. We also flag this book review, Untold Tales from a Physician's Bag, the partly humorous, partly dated memoirs of a practicing physician: Read on: An engaging medical memoir that sparks important questions. This week too, we have a big fat explainers section; you might find answers to long pending question, or even recent doubts here: Abhinay Lakshman explains Why there is variation in India's fertility rates? It is something we thought you might like to read about after the recently released Sample Registration Survey data, showed that Tamil Nadu, Delhi, Kerala have birth rates declining at twice the rate of national average. After Joe Biden was diagnosed with aggressive prostate cancer, Zubeda Hamid took some time to tell you All you need to know about prostate cancer. In the same series, she also wrote about urinary tract infections. Separately, she examines, in the In Focus podcast, Whether the 21 lakh 'excess deaths' in 2021 caused by the Covid19 pandemic? Last week we had told you about how records from the Civil Register showed that there were 21 lakh excess deaths during the year during COVID-19. Priyadarshini Paitandy spoke to experts to understand war anxiety and how to deal with it. Dr. C. Aravinda explains about the different parameters used to count health performance in India, in Estimates of existence: How does India count the lives of its citizens. In a series we started this May, we talk about the work that won people their Nobel Prize in Physiology or Medicine. This inaugural week, we have the first such Prize, and a note on Emil von Behring's contributions to serum therapy and tetanus vaccines. If you have an extra few minutes, do also read: Meena Putturaj The yearly 'thank you' to nurses is not enough My Science Quiz: On human physiology and mathematics India requires a social model of epilepsy care within school health programmes: experts WHO looks ahead to life after the US Why there needs to be more awareness about chronic fatigue syndrome in India — For many more health stories, head to our health page and subscribe to the health newsletter here.
USA Today
20-05-2025
- Sport
- USA Today
Wildcats eye secondary strength with cornerback Kelsey Deriso Jr.
Wildcats eye secondary strength with cornerback Kelsey Deriso Jr. As summer heats up, the Kentucky Wildcats are poised to hone in on key areas of need within their depth chart and set the stage for an exciting 2026 recruiting class. With the official season now in full swing, Coach Mark Stoops and his team are eager to make significant strides with some of their top targets as we gear up for the much-anticipated June Grind. One critical area that has caught the attention of elite programs across the nation is the secondary. The Wildcats aim to strengthen this position not only for immediate success but also for long-term stability. Among their priority targets is Kelsey KJ Deriso Jr., a dynamic 6-foot-1, three-star athlete from Whitewater High School in Georgia. Ranked as the No. 80 cornerback in the country and No. 85 overall prospect from Georgia, Deriso may not yet have widespread recognition, but he possesses immense potential waiting to be unleashed under the right guidance. With 24 scholarship offers already on his plate, schools are keenly vying for his commitment—especially with rising interest from rivals like Jeff Brohm and the Louisville Cardinals. As a versatile player who has made significant contributions on both sides of the ball, Deriso's stats speak volumes: last season alone he racked up 33 tackles, 2 tackles for loss (TFLs), 2 interceptions (INTs), 2 forced fumbles, and an impressive 12 pass breakups (PBUs). The Cats are eager to enhance their slim roster for the Class of 2026; currently standing at just one commitment, Deriso's upcoming visit could serve as a crucial turning point in building momentum. Recently, UKWildcatsWire had an opportunity to catch up with KJ ahead of his official visit to Lexington scheduled for June 13-15. Since offering him back in mid-January, Kentucky has been diligently nurturing their relationship with Deriso. As his recruitment gains traction, we asked him what he's most excited about during this visit: I'm looking forward to seeing how Coach White and Coach Collins envision my role within their defense and how I can grow as a player in their system. As competition intensifies around him, KJ shared what makes Kentucky stand out amidst other suitors: What really stood out was the genuine relationship I've built through constant communication with Coach Collins and other staff members—it truly makes me feel like a priority. Deriso's playmaking prowess is undeniable; however, he also knows exactly what he's seeking in a future program: I want an opportunity to get early playing time along with coaching staff that can develop me into an NFL-caliber player. With offers pouring in from various schools—including Michigan State, USF, and Louisville—KJ remains focused on finding where he fits best. When it comes to raw potential, Deriso is the walking billboard —and for good reason! He is already such a dynamic athlete and believes his unique skill set can elevate programs like Kentucky and others vying for top talent. 'I have the ability to turn routine plays into game-changing moments with my speed and athleticism,' he asserts confidently. 'I can change the whole dynamic of the game in just one play.' But KJ's impact extends beyond just electrifying performances on the field; he has the potential to reshape the future of Mark Stoops' program and significantly influence the trajectory of the 2026 recruiting class. Imagine what his explosive talent could mean for Kentucky's football ambitions!
The Hindu
19-05-2025
- Health
- The Hindu
US baby with rare illness treated with tailor-made gene edit
A US infant with a rare condition has become history's first patient to be treated with a personalized gene-editing technique that raises hopes for other people with obscure illnesses, doctors said May 15 2025. The wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. "You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant," the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. With the prognosis grim, doctors suggested something that had never been done before: a personalized treatment to fix the baby's genome using what amounts to a pair of molecular scissors -- the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The boy's father said he and his wife faced an impossible decision. "Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?" said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation -- incorrect DNA letters in the several billion that make up the human genome. "The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalised medicine," said Rebecca Ahrens-Nicklas, a member of the medical team who specialises in paediatric genetics. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study 15, May 2025 inTheNew England Journal of Medicine. KJ can now follow a diet richer in proteins -- his condition prohibited such before -- and does not need as much medicine as he used to. But he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication some day. "We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs," the doctor said.
