&w=3840&q=100)
Code of life rewritten: In a first, doctors treat baby with gene-edited drug
The baby, KJ, was born with severe CPS1 deficiency, a rare genetic condition that affects only one in 1.3 million people. While doctors asserted that KJ is 'thriving', he would require careful monitoring throughout his life read more
Doctors and scientists in the US have done the impossible by healing a baby using customised gene-editing therapy, which involves rewriting faulty DNA. In a medical feat that has been hailed internationally, doctors from the Children's Hospital of Philadelphia and researchers from the University of Pennsylvania have proved that rare genetic disorders can potentially be treated by editing the faulty genes.
What was the baby's diagnosis?
The baby, KJ, was born with severe CPS1 deficiency, a rare genetic condition that affects only one in 1.3 million people. A lack of Carbamoyl phosphate synthetase 1 (CPS1), a type of protein that produces enzymes, affects the liver due to ammonia buildup, which should ideally be excreted via urine after the enzyme converts it into urea. This can affect the liver and other organs, including the brain.
Although some patients with CPS1 deficiency undergo liver transplants, infants with severe forms of the disease may already have sustained damage by the time they are old enough for surgery.
STORY CONTINUES BELOW THIS AD
'Years and years of progress'
The one-of-a-kind treatment did not come easily. Dr Rebecca Ahrens-Nicklas, a senior physician on the team, said the breakthrough in gene rewriting was preceded by 'years and years of progress' of the technique.
In the New England Journal of Medicine, the doctors detailed the meticulous process of pinpointing the exact mutations causing KJ's disorder, developing a gene-editing therapy to fix them, and testing both the treatment and the fatty nanoparticles used to deliver it to the liver. The therapy employs a cutting-edge technique known as base editing, which allows scientists to alter the DNA code one letter at a time.
How is the baby doing?
While doctors asserted that KJ, who received the first dose of the treatment via an infusion in February and two more doses in March and April, is 'thriving', he would require careful monitoring throughout his life.
KJ spent the early months of his life in the hospital on a strict diet, but following his treatment, doctors have been able to raise the protein content in his meals and reduce the use of medication needed to eliminate nitrogen from his body.
However, the medical team has added that longer follow-ups are needed to gauge the total success of the therapy. Prof Kiran Musunuru at the University of Pennsylvania said, '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.'
Why does it matter?
Over 30 million people in the US live with rare genetic disorders caused by DNA errors, many of which lack treatments due to commercial unviability.
This case demonstrates the potential of precision gene editing to bypass traditional drug development hurdles, especially for ultra-rare diseases.
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
The Hindu
2 days ago
- The Hindu
Europe suffers its largest diphtheria outbreak in 70 years
The largest diphtheria outbreak to strike Western Europe in 70 years has been affecting vulnerable people such as migrants and the homeless since 2022, new research said Wednesday. Diphtheria is a highly contagious bacterial infection that can attack the respiratory tract and spread throughout the body, causing a sore throat, fever and other symptoms. For unvaccinated people, it can be fatal in around 30 percent of cases, and is deadlier for children, according to the World Health Organization. In 2022, there was an unusual surge in the bacteria that causes diphtheria -- Corynebacterium diphtheriae -- in several European countries, particularly among recently arrived migrants, according to a study in the New England Journal of Medicine. That year 362 cases were recorded by the European Centre for Disease Prevention and Control. Contact tracing and screening helped tamp down the outbreak, but rare infections have continued to be recorded, the researchers said. A total of 536 cases, including three deaths, have been recorded across Europe since the start of 2022. Patient samples from 10 countries showed that 98 percent of the cases were in males with an average age of 18. Almost all had recently migrated. "The outbreak, which mainly affected migrants from Afghanistan and Syria, was not the result of people being infected in their countries of origin, but during their migration journeys or in their places of accommodation in European countries," said a joint statement from France's public health agency and the Pasteur Institute. The genetic similarities between the strains seen in people from different countries suggests that there was a "recent point of contact, outside the country of origin" at the source of the outbreak, the statement added. The exact areas affected by the outbreak remains unclear. But a genetic link between the 2022 strain and the one detected in Germany this year indicates that "the bacteria continues to circulate quietly in Western Europe," the statement said. Vaccination is very effective at fending off diphtheria, and the researchers emphasised the importance of immunisation programmes for the general public. They also called for European nations to do more to ensure their most vulnerable people avoid contracting the disease. That included raising awareness of the symptoms among doctors and those in contact with migrants and the homeless, as well as increasing access to vaccines and antibiotic drugs.
Time of India
2 days ago
- Time of India
Europe suffers its largest diphtheria outbreak in 70 years
Paris: The largest diphtheria outbreak to strike Western Europe in 70 years has been affecting vulnerable people such as migrants and the homeless since 2022, new research said Wednesday. Diphtheria is a highly contagious bacterial infection that can attack the respiratory tract and spread throughout the body, causing a sore throat, fever and other symptoms. For unvaccinated people, it can be fatal in around 30 percent of cases, and is deadlier for children, according to the World Health Organization. In 2022, there was an unusual surge in the bacteria that causes diphtheria -- Corynebacterium diphtheriae -- in several European countries, particularly among recently arrived migrants, according to a study in the New England Journal of Medicine. That year 362 cases were recorded by the European Centre for Disease Prevention and Control . Contact tracing and screening helped tamp down the outbreak, but rare infections have continued to be recorded, the researchers said. A total of 536 cases, including three deaths, have been recorded across Europe since the start of 2022. Patient samples from 10 countries showed that 98 percent of the cases were in males with an average age of 18. Almost all had recently migrated. "The outbreak, which mainly affected migrants from Afghanistan and Syria, was not the result of people being infected in their countries of origin, but during their migration journeys or in their places of accommodation in European countries," said a joint statement from France's public health agency and the Pasteur Institute. The genetic similarities between the strains seen in people from different countries suggests that there was a "recent point of contact, outside the country of origin" at the source of the outbreak, the statement added. The exact areas affected by the outbreak remains unclear. But a genetic link between the 2022 strain and the one detected in Germany this year indicates that "the bacteria continues to circulate quietly in Western Europe," the statement said. Vaccination is very effective at fending off diphtheria, and the researchers emphasised the importance of immunisation programmes for the general public. They also called for European nations to do more to ensure their most vulnerable people avoid contracting the disease. That included raising awareness of the symptoms among doctors and those in contact with migrants and the homeless, as well as increasing access to vaccines and antibiotic drugs. ic-dl/giv
Mint
30-05-2025
- Mint
What space, submarines and polar research teach about teamwork
If you are fed up with the other people on your team, remember this: it could be so much worse. Butch Wilmore and Suni Williams, two American astronauts, returned to Earth on March 18th after a planned days-long mission to the International Space Station turned into a nine-month stay. At the SANAE IV research station in Antarctica, reports have emerged of assault, death threats and intimidation among a team of South African scientists who arrived there in February; they are due to leave the base only in December. Submariners on Britain's nuclear-armed subs can be at sea for six months or more. Spacecraft, polar-research stations and submarines are among a set of environments classed as isolated, confined and extreme (ICE). They put that two-day off-site retreat you're dreading into perspective. They also put very specific stresses on teams. Most obviously, there is no real escape from each other. If you storm out of an Antarctic research station, you will storm back in again fairly quickly. Privacy will always be limited: a British nuclear sub has a crew of 130 or so in a vessel whose length a sprinter would cover in under 20 seconds. Its absence is likely to be particularly obvious to women in male-dominated teams. Family members are a very long way away; any future missions to Mars would involve crews spending years away from home. These are plainly not typical team environments. You cannot tell a story that no one else knows about you, do a few trust falls—and then blast off. NASA, America's space agency, simulates the conditions of space at a facility in Houston called the Human Exploration Research Analogue (HERA), a 650-square-foot structure where crews can spend weeks at a time on mock missions. A paper by Mathias Basner of the University of Pennsylvania and his co-authors reports on a 520-day simulation of a mission to Mars that was conducted in Moscow in 2011. Of a multinational crew comprising six male volunteers, one reported symptoms of depression almost all the way through. Only two crew members reported no sleep disturbances or psychological distress, which makes them the weirdest of the lot. Extreme though these situations are, they provide a magnified lens on more quotidian team problems. One example is tedium. Missions to ICE environments can be a curious combination of danger and monotony. Antarctic explorers report that it is preferable to follow someone on the ice than to lead, because at least there is something to look at. But there are ways to inject meaning into the mundane whatever the workplace. A paper by Madeleine Rauch of the University of Cambridge looks at the disconnect experienced by UN peacekeepers between the abstract ideals of their work and the humdrum reality of it. She finds that people cope better with boredom if they are able to reframe tedious tasks as steps towards the larger goal. Another magnified problem is conflict. Small things can lead to great friction among colleagues in every workplace. ('Wow, you want to see crew dynamics," reads one entry in a journal kept by an astronaut on the International Space Station, about an attempt to take a group photo. 'I thought we were going to lose a member of the crew during that one.") But defusing conflict is much more important if there is nowhere for an angry worker to cool off. Personality obviously matters here. Some of the traits that seem to predict successful team members in ICE environments include agreeableness, emotional stability and humour. Empathy also matters. In his book 'Supercommunicators", Charles Duhigg describes research conducted at NASA to test would-be astronauts for their instinctive capacity to match the emotions, energy levels and mood of an interviewer. Tactics can help mitigate conflict, too. Regular team debriefs are a constructive way to bring simmering issues to the surface, especially if crews have very limited contact with mission control. A paper on long-duration space exploration by Lauren Blackwell Landon of NASA and her co-authors suggests that debriefs can be effective hurtling away from Earth as well as on it. ICE environments plainly place very unusual demands on people. But they can teach some lessons about boredom, team composition, conflict resolution and more. And knowing that they exist might just make you feel happier about the daily commute. Subscribers to The Economist can sign up to our Opinion newsletter, which brings together the best of our leaders, columns, guest essays and reader correspondence.
