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.
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Irish Independent
3 hours ago
- Irish Independent
Long term survival for lung cancer patients improved with new treatment combination, new Irish research reveals
The patients with lung cancer who received an immunotherapy drug, nivolumab, along with standard chemotherapy before surgery had improved long term survival compared to those who received chemotherapy alone, at five years after completing treatment. Results from the phase 3 clinical trial were published in the New England Journal of Medicine. Prof Patrick Forde of the Trinity St James's Cancer Institute (TSJCI), Trinity College Dublin School of Medicine, presented the findings at the American Society of Clinical Oncology Annual Meeting in Chicago, USA, at the weekend. Prof Forde led the CheckMate 816 trial which enrolled 358 patients globally who were diagnosed with the most common type of lung cancer, non-small cell lung cancer (NSCLC), at a stage where it could be removed by surgery. However, despite undergoing surgery, 50pc of patients with stage 2 or 3 lung cancer will eventually have relapse of their cancer. Immunotherapy drugs known as immune checkpoint inhibitors, in particular those that block a receptor called PD-1, have led to improved survival for patients with advanced cancers by unmasking the tumour to the patient's immune system. However, up until now, no study had shown long-term benefit to this treatment in helping to cure earlier stage lung cancer. Earlier in his career as an oncologist at Johns Hopkins in the United States Prof Forde led the first clinical trial of immunotherapy prior to surgery (neoadjuvant therapy) for lung cancer which was published in the New England Journal of Medicine in 2018. That study showed that among 20 patients who underwent surgery after two doses of immunotherapy, almost half had little or no remaining cancer at the time of their operation. In an earlier report of the CheckMate 816 trial, patients with lung cancer who received immunotherapy along with chemotherapy prior to surgery were more likely to have had their cancer eliminated completely by the time of surgery and also had lower rates of cancer relapse. Side effects were not increased with the addition of immunotherapy, and in general, surgeries went well. These findings led to the approval of the neoadjuvant nivolumab plus chemotherapy in several countries globally, including as a standard treatment for eligible patients in Ireland. In the latest update from the trial, patients who received immunotherapy plus chemotherapy before surgery were approximately 10pc more likely to be alive at five years than those who just received chemotherapy. Among the 24pc of patients treated with immunotherapy plus chemotherapy who had no cancer remaining at the time of surgery - known as a pathologic complete response - no patient had died from lung cancer by five years. Prof Forde is also co-leading an international clinical trial open in Ireland at TSJCI, Beaumont, Galway and Mater Hospitals that is aimed at further improving outcomes for patients undergoing surgery. Results from part of this study were also published this week in the prestigious Nature Medicine journal. In the NeoCOAST-2 trial, patients who received standard chemo-immunotherapy plus a new treatment called an antibody drug conjugate (ADC) before surgery were more likely to have no viable cancer remaining at the time of surgery, suggesting that this additional treatment could improve outcomes further. Prof Forde said: 'Immunotherapy has helped many patients with stage 4 lung cancer live longer with good quality of life. "Until recently we have not had new treatments available that can increase the chances of cure after lung cancer surgery. The use of immunotherapy with chemotherapy before lung cancer surgery has now been shown to reduce the risk of cancer coming back and improve long term survival. "Cancer clinical trials are key to improving outcomes for patients with cancer and offer the potential for early access to the latest cutting edge cancer treatments. I am delighted to be able to help expand clinical trial options for patients in Ireland.' In 2024, Prof Forde joined the Trinity St James's Cancer Institute (TSJCI) as the Patrick Prendergast Professor of Clinical Immuno-Oncology. This position was established by a philanthropic gift from Dr Stanley Quek, Trinity alumnus and former Pro-Chancellor of the University. In collaboration with colleagues across Ireland, Prof Forde's goal is to improve access for patients to cutting edge cancer clinical trials.
Irish Examiner
14 hours ago
- Irish Examiner
Computer scientist to develop 'honest' AI that will spot rogue systems and flag 'harmful behaviour'
An artificial intelligence pioneer has launched a non-profit dedicated to developing an 'honest' AI that will spot rogue systems attempting to deceive humans. Yoshua Bengio, a renowned computer scientist described as one of the 'godfathers' of AI, will be president of LawZero, an organisation committed to the safe design of the cutting-edge technology that has sparked a $1tn (€877bn) arms race. Starting with funding of about $30m (€26.3m) and more than a dozen researchers, Bengio is developing a system called Scientist AI that will act as a guardrail against AI agents — which carry out tasks without human intervention — showing deceptive or self-preserving behaviour, such as trying to avoid being turned off. Describing the current suite of AI agents as 'actors' seeking to imitate humans and please users, he said the Scientist AI system would be more like a 'psychologist' that can understand and predict bad behaviour. 'We want to build AIs that will be honest and not deceptive,' Bengio said. 'It is theoretically possible to imagine machines that have no self, no goal for themselves, that are just pure knowledge machines — like a scientist who knows a lot of stuff.' However, unlike current generative AI tools, Bengio's system will not give definitive answers and will instead give probabilities for whether an answer is correct. 'It has a sense of humility that it isn't sure about the answer,' he said. Deployed alongside an AI agent, Bengio's model would flag potentially harmful behaviour by an autonomous system — having gauged the probability of its actions causing harm. Scientist AI will 'predict the probability that an agent's actions will lead to harm' and, if that probability is above a certain threshold, that agent's proposed action will then be blocked. LawZero's initial backers include AI safety body the Future of Life Institute, Jaan Tallinn, a founding engineer of Skype, and Schmidt Sciences, a research body founded by former Google chief executive Eric Schmidt. Bengio said the first step for LawZero would be demonstrating the methodology behind the concept works — and then persuading companies or governments to support larger, more powerful versions. Open-source AI models, which are freely available to deploy and adapt, would be the starting point for training LawZero's systems, Bengio added. 'The point is to demonstrate the methodology so that then we can convince either donors or governments or AI labs to put the resources that are needed to train this at the same scale as the current frontier AIs. It is really important that the guardrail AI be at least as smart as the AI agent that it is trying to monitor and control,' he said. Bengio, a professor at the University of Montreal, earned the 'godfather' moniker after sharing the 2018 Turing award — seen as the equivalent of a Nobel prize for computing — with Geoffrey Hinton, himself a subsequent Nobel winner, and Yann LeCun, the chief AI scientist at Mark Zuckerberg's Meta. A leading voice on AI safety, he chaired the recent International AI Safety report, which warned autonomous agents could cause 'severe' disruption if they become 'capable of completing longer sequences of tasks without human supervision'. The Guardian Read More The real cost of slightly funnier AI is the health of a poor black community
RTÉ News
18 hours ago
- RTÉ News
Exercise may reduce risk of cancer returning, study shows
An international cancer study has found that exercise can have huge benefits for cancer patients and can even reduce the risk of the disease returning. The results were presented at the American Society of Clinical Oncology annual conference in Chicago at the weekend, and published in the New England Journal of Medicine. Among those attending the expert gathering was Professor Janice Walshe, medical oncologist at St Vincent's University Hospital in Dublin. She called the study an "incredibly strong finding", saying "it adds to the literatures that suggests that exercise is really important in keeping ourselves well." The study examined nearly 890 patients who had high risk colon cancers (stage 2 or stage 3) and was completed in 55 locations, including in countries such as the US, France and Australia. All patients had completed chemotherapy treatments and were put into one of two groups. One group was given structured, supervised exercise sessions with a personal trainer and the other was just given a booklet outlining the benefits of a healthy lifestyle. The first group did 45 to 60 minute walks three or four times a week and could do more if they chose. Twice a month they worked with a personal trainer and then later once a month for a total of three years. After eight years, the patients in the first group had a 37% lower risk of dying than those in the second group. Prof Walshe said it was important to note that all these patients had already received chemotherapy. "So, this intervention is not a substitute for drugs that we know already reduce the risk of people dying from different various cancers," Prof Walsh said. Speaking to RTÉ's Morning Ireland, Prof Walshe said she felt that some newspaper headlines about the study were "misleading." "I think what they're trying to say is that the magnitude of benefit we have seen with this intervention, of an exercise programme, is the type of reductions we've seen with many of our new drugs. "But this is not a drug substitute," Prof Walshe said. "This is on top of you receiving the best drugs in the market to reduce the risk of disease recurrence." Prof Walshe said there is a "huge amount of Irish research" at this year's American Society of Clinical Oncology conference. "The consultants who travel here are all networking with various research groups to bring these trials home to Ireland and obviously the best approaches in terms of managing our cancer in our Irish patients," she said. "We already have exercise programmes ongoing in various parts of the country that are free of charge, because we believe exercise is really important in terms of, one, reducing risk of disease recurrence and, two, increasing people's confidence," she added.
