Latest news with #Crispr-Cas9
Gulf Today
21-05-2025
- Health
- Gulf Today
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 Thursday. The wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy with chubby cheeks and big blue eyes. 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. KJ Muldoon (centre) sits with his siblings. AP 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 personalized medicine," said Rebecca Ahrens-Nicklas, a member of the medical team who specializes in pediatric genetics. KJ Muldoon sits with his parents, Kyle and Nicole Muldoon, and his siblings. AP 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 Thursday in the New 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. Agence France-Presse
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.
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.
Time of India
16-05-2025
- Health
- Time of India
US baby with rare illness treated with tailor-made gene edit
In a medical breakthrough, a US infant, KJ Muldoon, suffering from CPS1 deficiency, received a personalized gene-editing treatment. Doctors at Children's Hospital of Philadelphia used Crispr-Cas9 technology to correct the genetic mutation. The treatment shows promising results, allowing KJ to have a better diet and less medication. This pioneering case offers hope for others with rare genetic illnesses. Tired of too many ads? Remove Ads Tired of too many ads? Remove Ads Tired of too many ads? Remove Ads 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 wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy with chubby cheeks and big blue 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 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 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 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 personalized medicine ," said Rebecca Ahrens-Nicklas, a member of the medical team who specializes in pediatric the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed results were promising for other people with genetic conditions, said the medical team, which published their study Thursday in the New England Journal of can now follow a diet richer in proteins -- his condition prohibited such before -- and does not need as much medicine as he used he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team 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.
RTÉ News
16-05-2025
- Health
- RTÉ News
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 personalised 'gene-editing' technique that raises hopes for other people with obscure illnesses, doctors have said. Shortly after birth, baby KJ Muldoon 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, said 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 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 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 yesterday in the New England Journal of Medicine. KJ, who is now nine-and-a-half months old, 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 follow-up long term care to monitor the safety and efficacy of the treatment, the team said. Dr Ahrens-Nicklas said she hoped the 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.
