Americans are dying younger. 5 science-based tips could reverse the trend.
After more than a century of steady, upward climb, US life expectancy hit 78.9 years in 2015. Since then, it's been mostly downhill. US life expectancy slid to 76.1 years in 2021 at the pandemic's nadir before inching back up to 78.4 years in 2023 — still well below the 2014 peak and lagging most peer nations.
So where's the good news? Science is figuring out ways to pump those numbers up again and pointing the way toward living more years — and more healthy years. And this doesn't require sci-fi, Silicon Valley anti-aging technology like blood swapping, or cellular reprogramming. According to Dr. Eric Topol, a cardiologist and the author of the new book Super Agers, there are evidence-based steps you can take right now to help ensure you live a longer, healthier life.
'We're at a turning point,' Topol told me in an interview this week. 'Thanks to advances in the science of aging, we can actually show everything is going in the right direction. We're making headway.'
It used to be that if you wanted to know how old you are, all you needed was a calendar. But your body's aging isn't as simple as turning the pages on a calendar: Depending on who you are and how you live, different parts of your body can age more quickly or slowly than. And it turns out this other kind of aging, biological aging, matters more for your health than the number of candles on your birthday cake.
In Super Agers, Topol points to a 'metric revolution' in which blood-based proteomic clocks and DNA-methylation scores can pinpoint which organ system is aging the fastest, and by how many years. A 2024 Nature Medicine study used machine learning to examine more than 200 plasma proteins in thousands of people and showed that the resulting biological age forecasted 18 major diseases and all-cause mortality better than any single risk factor, like blood pressure or body mass.
'When you particularize risk to a person, the chance of them taking actions to mitigate it is much, much higher,' Topol said.
It's one thing to know generally that as you get older, you need to be aware of the risks of heart disease or neurodegenerative diseases. It's another thing to be told that your brain age is, say, five years ahead of your calendar age — which means you need to intervene now to protect yourself.
What you can do: Companies are already offering biological age tests that you can order for your own use. Down the line, scientists at the University of Washington are developing a multi-organ biological clock that will be developed into a digital app.
There's no field where the prevailing advice seems more conflicting and confusing than in the science of nutrition. Atkins, South Beach, Paleo, Zone — you'd be forgiven for throwing up your hands and just ordering takeout from DoorDash.
But we do know what you eat is key to how well and how long you'll live, and the current American diet, heavy on ultra-processed foods and red meat, isn't cutting it. 'Our diet is basically inviting disease instead of preventing it., Topol said.
A 30-year study looked at 105,000 adults and found that of the one in 10 study subjects who reached age 70 without cancer, cardiac disease, or serious cognitive decline, virtually all scored high on an eating index that closely tracks Mediterranean-style diets. That means plenty of whole grains, vegetables, olive oil, and omega-rich seafood. You should also try to cut out sugars and ultraprocessed foods as much as possible, and go very easy on red meat, which Topol notes can trigger aging-accelerating inflammation.
What you can do: Start by something as simple as swapping out butter for olive oil and soda for sparkling water.
At this point, I think everyone knows just how important it is to get a good night's sleep. Poor sleep is associated with everything from heart disease to diabetes to dementia to obesity to cancer, not to mention a significantly increased risk of watching way too many Netflix shows.
But as Topol told me, it's not just how much sleep you're getting, but how you're sleeping. 'The key thing is deep sleep,' he said. 'If you don't get it, you're much more subject to brain aging and the three major diseases of aging.'
Research has shown that people who get fewer hours of deep sleep per night have a greater risk of developing neurodegenerative diseases like dementia, while a larger amount of deep sleep can act as a protection against Alzheimer's-related memory loss.
What you can do: During the writing of Super Agers, Topol increased his own deep sleep from around 15 minutes per night to over an hour by adhering to a consistent sleep schedule and tracking his progress with wearables. And steer clear of drugs and supplements, which are unlikely to help you get the deep, restorative slumber you need.
As a cardiologist, Topol was long focused on aerobic exercise, which helps build up the cardiovascular system. But he now realizes that's not enough. 'Aerobic was the thing,' he told me. 'Now we know that strength and core training are equally important.'
One meta-analysis from 2022 found that just an hour of resistance training per week lowered all-cause mortality by as much as 25 percent. And beyond trying to reduce the chance of death, strength training when you're younger helps build up muscle mass, slowing down the inevitable decline of muscle that occurs as you age.
What you can do: You don't have to start pumping iron like 1970s Arnold Schwarzenegger to get the anti-aging benefits of strength training. Bodyweight exercises will go a long way, as will resistance training that involves exercise bands. And as much as you may hate them, don't neglect those squats!
It may seem inevitable that as you age, your social circle and connections shrink. But it doesn't have to be that way — and there are enormous longevity benefits to keeping connected to the world and the people around you. 'The strong data for social isolation shows it will compromise healthy aging,' Topol said.
A 2023 meta-analysis linked social isolation to a 32 percent higher risk of all-cause mortality, while self-reported loneliness specifically tacked on another 14 percent. Neuro-imaging studies have even shown a biological effect from being alone, demonstrating spikes in inflammatory cytokines and the shrinkage of hippocampal volume in the brain.
What you can do: Get off your couch and out of your house, for one thing! Schedule regular face time with a friend, and ideally do it outside: Frequent time in nature has been associated with reduced epigenetic aging.
There's plenty more in Super Agers, including Topol's optimism around GLP-1 inhibitors like Ozempic, which have been showing the ability to reduce the risk of diseases of aging like dementia. But you don't need cutting-edge medicines to live a longer, healthier life. You just need to change how you live your life.
A version of this story originally appeared in the Good News newsletter. Sign up here!
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Yahoo
4 hours ago
- Yahoo
Former elite marathoner and triathlete behind book touting brisk walking instead
Recreational athletes who lived through the 1970s will recall that two concurrent 'booms' — the tennis boom and the running boom — dominated the decade and reverberate to this day. An athlete and sports fan from my earliest days, I zealously pursued both pastimes (as well as several team sports) for decades. Tennis tournaments, round robins and instructional group clinics for the former; hour-plus-long daily training sessions and countless road races of varying distances —including one marathon — for the latter. Despite managing a case of chronic adhesive capsulitis, aka "frozen shoulder," I'm still able to play tennis regularly. (Turns out my dearly departed dad, who was also a good recreational player, was right when he told me tennis was 'a sport you can play for a lifetime.') But by the time I reached my mid-to-late 40s, my body rebelled against the cumulative effects of the daily pounding, so I gradually transitioned away from distance running to less joint-rattling cardio exercises like brisk walking, pool workouts, and isometric and functional strength-training, among others. On my own micro level, I've lived through the macro premise of a new book — 'Born to Walk: The Broken Promises of the Running Boom, and How to Slow Down and Get Healthy—One Step at a Time' — by former elite endurance athletes Mark Sisson, 71, with Brad Kearns, 60. Both were former professional triathletes; Sisson was a 2:18 marathoner who appeared on the cover of Runner's World in the 1980s, came in fifth place in the 1980 U.S. Olympics Marathon Trials — just barely missing making the team. (Only the top three finishers make the team — but the U.S. wound up boycotting 1980 Summer Olympics in Moscow in protest of the USSR's invasion of Afghanistan.) Nowadays, though, both Sisson and Kearns extol the myriad health benefits of walking over running. Sisson — a New York Times best-selling author, fitness entrepreneur and podcaster, and founder of the Paleo diet nutrition program Primal Kitchen — says that the primary thesis of his book is that 'walking is the quintessential human movement pattern and that we all should do more of it, regardless of how fit we are. It is hardwired into our genes that we should walk extensively every day. In other words, we are born to walk.' And despite his world-class success as a marathoner and triathlete, he blames 'the flawed and often highly destructive born-to-run notion on an avalanche of hype, deception, misinformation, and fabrication that have fueled half a century of what we have come to call the running boom.' Interestingly, Sisson, who lives in Miami Beach and has been married for 35 years to his wife, Carrie, says that despite not having run a full nonstop mile in more than 30 years, 'I still consider myself a runner.' That's because he incorporates brief sprints into his walks and hikes. The 5-foot, 10-inch, 170-pound Sisson believes the reasons why he has 20 pounds more lean muscle with the same body fat (10%) as he did in his competitive racing days include following an 'an enjoyable, stress-balanced, longevity-promoting regimen of walking extensively every day, sprinting once in a while, lifting weights consistently, and playing in a variety of ways.' His social media feeds are filled with pics of him paddle boarding, and he rarely strays from his Paleo diet. Sisson notes that his goal with "Born to Walk" is to spare readers 'some of the repeated suffering and setbacks that too many endurance enthusiasts accept as part of the game.' What's more, he and Kearns present research-based data to expose 'the worst-kept secrets' of the fitness and running industries, which include, among others: Running is not an effective way to shed excess body fat. Runners get injured at a higher rate than they should. The construction of running shoes is often the driving cause of injury. Hormonal burnout, metabolic changes, mental health struggles, and cardiovascular disease are commonplace among accomplished runners and endurance athletes. Sisson asserts that the type-A personalities who are often drawn to extreme fitness programs can be undone by their own good intentions. 'An extreme devotion to endurance training can increase cardiovascular disease risk, compromise gut health, and suppress immune and hormonal function,' he says. Sisson has found 'that walking can be a great catalyst for fat reduction by improving metabolic flexibility, as well as regulating appetite and satiety hormones, and by prompting an 'under-the-radar' increase in metabolic rate.' Part 1 of "Born to Walk" takes readers through the history of the running boom and explains why so many people came to believe that if they just pounded out the miles like the elite runners did, they'd also attain those lean sinewy physiques. But what many distance runners never realized, says Sisson, is that by physiologically stressing their bodies more than was healthy or advisable, they released too much of stress hormone cortisol into their systems. As he explains, 'healthy cortisol production is what gets us alert and energized in the morning and able to execute all manner of physical and mental peak-performance tasks,' while 'chronic overproduction of cortisol is the problem' — one that causes the body to retain fat, become more susceptible to illness and suffer from internal inflammation. 'Antiaging fitness strategies should be focused on preserving hormone status, bone density, lean muscle mass, explosive power, balance, and mobility,' says Sisson. 'Of course, they should also support cardiovascular fitness, which most runners do fine with — unless they overstress the heart muscle and compromise overall cardiovascular health in the process.' In Part 2 of "Born to Walk," readers are taught how to exercise at their optimum VO2 max (which is the maximum amount of oxygen your body can absorb and use during exercise) to both burn fat and build a healthy aerobic base. They're also introduced to a comprehensive functional fitness program and approach to nutrition that are designed to improve their quality of life and help extend their longevity. Looking back, I now recognize that I, like so many of my generation, gravitated toward recreational distance running and endurance sports because they were promoted as the most effective ways to burn calories and fat, and to stay in peak shape for other sports. After all, professional boxers were venerated for their dedication to their craft when they did untold hours of early morning "road work" to get in fighting trim. And naturally, we would-be distance runners used the training programs of the world's elite runners as the template for what we should be doing. We mistakenly thought that if they were doing 100-plus miles per week and two-a-day workouts, we should be doing them too. The thinking back then was "if some is good ― then more is better." But learning about one's fitness goals, limitations and preferences is an ever-evolving journey ― one that I'm still on. What worked at age 20 didn't work at age 40 and what worked at age 30 didn't work at age 50 or 60. These days, however, I'm far more willing to adapt my regimen as circumstances warrant. I also recognize that all movement counts as "exercise" ― and that if it hurts, or isn't any fun to do, there's no need to "tough it out." And with all forms of fitness training quality is far more important than quantity. Sisson said he hopes that with "Born to Run" he and Kearns have 'helped reshape fitness culture to reject the flawed and dated 'no pain, no gain' approach of the past" while simultaneously putting folks on a path to 'an accessible sustainable program that increases movement and aerobic conditioning, avoids injury and burnout, and promotes a healthy, happy, energetic and long life — one step at a time.' This article originally appeared on Palm Beach Post: Book debunks myths of running boom, promotes brisk walks instead


New York Times
6 hours ago
- New York Times
How a phone call from a college football legend reset Sean McVay's coaching career
Sean McVay still has the voicemail from two years ago. He hasn't listened to it since, but plays it now as he lays his iPhone flat on the desk beside him. 'Sean, this is Chris Petersen calling. I am the former head coach at Boise State and the University of Washington … ' Petersen's voice is warm and earnest. 'I've just been thinkin' about ya. I know you're going through some hard times … ' Advertisement As he listens, McVay is the picture of control, from his hair slicked into its signature shark fin to his matching athleisure set and spotless sneakers. But then his eyes fill with tears, and he doesn't swipe them away. Petersen called McVay in January 2023 after seeing clips of him following the Los Angeles Rams' disastrous 2022 season, when McVay admitted he was contemplating leaving coaching just one year after becoming the NFL's youngest Super Bowl-winning head coach. When Petersen saw McVay's hollow-eyed expression and heard his hoarse voice, he knew there was more at work than a dismal season record and professional fatigue. 'Oh my stars, I know this guy,' Petersen said to himself. 'I know this story.' So he picked up his phone. That voicemail was an outstretched hand to a broken man. Petersen, who in 2019 suddenly stepped away from his career as one of the most successful coaches in college football history, has become a mentor, confidant, friend and adviser to McVay as the young coach worked his way out of what he calls the hardest year of his life. 'You're in the middle of a storm. It's real gray; things are cloudy,' McVay said. 'He saw that press conference. I was crying out for help, I just didn't realize I was.' More than two years after their first conversation, McVay, 39, credits Petersen's support as a significant part of his long-term recommitment to coaching. 'He has helped me see this game and this profession in (such) a totally different lens that the idea of not coaching feels so laughable,' said McVay. 'I get so much more joy out of things that I just didn't give a s— about before.' The head coach of Boise State from 2006-13 and Washington from 2014-19, the 60-year-old Petersen is a college football legend. His teams were energetic, creative and daring — the stuff of sports fairy tales. Petersen helped Boise State take down touchdown-plus favorite Oklahoma in the 2007 Fiesta Bowl as a first-year head coach, earning national fascination for his audacious use of trick plays in key situations that he called into the headset with an icy stare. The Broncos went undefeated that year, and from 2008-11 became the first FBS team to reach 50 wins over four years. The first two-time winner of the Paul 'Bear' Bryant Coach of the Year award, Petersen became well-known in coaching circles for the quality of the culture built for his staff and players. Advertisement When Jimmy Lake arrived to coach defensive backs in 2012, he said he 'wanted to know what the whole 'Boise State mystique' was all about.' It took him about a month. Petersen's staff meetings often wouldn't cover football at all. Instead, 'it was all about life and life lessons,' Lake said. 'It would really pour into our staff and it helped me become a better father, a better husband, a better friend. The way that it was presented, it was really all-encompassing of life. Of course, you could also then use those examples to help you in coaching your players.' To Lake, the energy at Petersen's program felt very different than his previous five years as an NFL assistant. The staff spent time together instead of shut away in their respective offices. People said 'good morning' to each other. During summer practices, Petersen held drills and games where groups of players from different positions teamed up to compete. Lake noticed deep into the season that players outside of their respective position groups hung out with each other. He realized that everything Petersen built into their daily routine included some method of bringing them all closer. 'Anywhere else I'd been, we're locked in our meeting rooms, and we're trying to get the X's and O's right, we're trying to get the technique and fundamentals of football right,' Lake said. 'First and foremost for Chris Petersen, it was making sure the culture and the connections were right. That said a lot. Then all the X's and O's fell into place. 'That's where you could feel it — the vibe and the energy in being around people (was) what the difference was.' To those inside the program, it felt like Petersen's methods would last, like maybe they had found a new model for building a team and a culture. But looking back, all the warnings of an incoming crash are now clear to Petersen. They just hid under his success. Petersen went 92-12 in eight seasons in Boise but said he started to feel himself 'sliding backwards.' 'I wasn't as good of a coach, wasn't as good of a leader, probably wasn't as good of a person as I could be,' he said. 'I felt myself becoming cynical, frustrated, short.' Advertisement Peterson's wife, Barbara, suggested counseling, maybe even a new occupation. He was skeptical that any person outside of his world could make sense of the stresses that came with it. He tried to ignore how he felt. Then, in 2014, Washington offered Petersen its vacant head coaching job. Petersen had turned down chances at bigger-name programs for years — he twice interviewed at USC but withdrew his candidacy each time. Now he was ready to make a move. 'I laugh when I say this to you now, but I'm thinking, Well, maybe I just need a new set of problems,' he said. 'There were some really appealing things about Washington, don't get me wrong. But what I was going through, I'm thinking, OK, maybe if I throw away my problems and take on a new set of problems, that will solve my problem.' Petersen threw himself into overhauling the Huskies program with so much energy that he now calls the process 'numbing.' Then came the winning. After his first season at Washington, he became the fastest FBS coach to reach 100 wins, which he did in just 117 games. In his third season, Washington won 12 games before losing to Alabama in the College Football Playoff and finishing the year ranked No. 4. But winning couldn't stave off the old feelings. Despite consecutive 10-win seasons in 2017 and 2018, Petersen started sliding again and believed he was dragging his team down. He loved his job, loved his staff and his players, but he didn't understand himself. On Dec. 2 2019, he resigned. Lake, then Petersen's defensive coordinator and soon to be his successor as Washington's head coach, said the decision came as a total shock. He was that good at hiding his struggle. Petersen wanted to visit other programs to see if they had some secret to handling pressure and managing the job he hadn't yet found. But a few months into his break, the COVID-19 pandemic shut down travel and in-person contact, and Petersen was forced to spend a lot of time alone with himself and his thoughts. 'Had (I been) able to travel, I would have been going and chasing all of the wrong answers,' he said. He knew he would have gravitated toward schematic or structural developments, 'and not really thinking about, how do I get better?' Advertisement Petersen began to study his own psychology and the uniquely competitive and public space that football coaches occupy, which he calls 'the arena.' 'The arena can squeeze you and narrow you so quickly to certainly a lesser version — or the worst version — of yourself extremely easily,' he said. 'You have to have a plan. You have to be almost counter-culture. Like, you have to work against everything society is telling you and rewarding you for.' Two years into Petersen's learnings, he saw McVay on television and reached for his phone. Each offseason during his first six years as the head coach of the Rams, McVay became briefly aware he wasn't feeling right. 'I couldn't pinpoint what it was,' he said. 'Imbalances or just … I knew I was running a race that wasn't sustainable.' He usually pushed the feeling away. He didn't have time for much else in his pursuit of a championship. Was he tired? He'd disappear for just a few days and rest before returning to work at his typical obsessive pace. Mentally blocked? There were leadership books to read or new ideas to glean from the constant churn of young assistants working under him. When the Rams appointed him the youngest head coach in NFL history in 2017, McVay's leadership and communication abilities — not to mention his understanding of the game's strategic evolution — led the organization to build its entire football operation around the then-30-year-old. It paid off. The Rams won a lot, and quickly. Empowered by the organization and motivated to win a championship, McVay could discard anyone who couldn't match his pace. Those moves were for the greater good, he reasoned; everything he did was to win a Super Bowl. At times, McVay's rush to contend conflicted with his humanity. Throughout the 2020 season, rising tension between McVay and quarterback Jared Goff led to a total break in communication. McVay then urged the Rams front office to trade away Goff in the deal for veteran Matthew Stafford in early 2021. McVay has since expressed his regret over how he handled the personal elements of that trade. Back then, losing relationships wasn't a real consequence to him – losing football games was. Advertisement 'When I look back on especially the first five years of my tenure here, there was a lot of selfishness, where I knew how to say the right things but I didn't feel it,' he said. Conversely, McVay said he badly wanted to win for his team captains and his coordinators during the Rams' Super Bowl run following the 2021 season, which led to a kind of 'purity.' But after he hoisted the Lombardi Trophy, that feeling quickly left him. 'After you win, it becomes more about you than you'd ever like to admit,' he said. 'That's when you're like, 'man, this is it, huh?'' The team imploded during the 2022 season. Burnout following the championship run made it all worse. McVay was outwardly frustrated and privately angry when assistants relied on him for answers, even though he was the one who created an order of operations that flowed wholly through him. He saw his struggling, tired team as a reflection of himself, so he withdrew. He said all the right things in team meetings but closed his office door afterward. He even gave up play calling for a short time. He considered giving up coaching altogether, which he acknowledged in a news conference with local reporters on a rainy, gray afternoon as the Rams' 2022 season ended. Petersen saw footage of McVay's comments and got his number from Kellen Moore, Petersen's former quarterback at Boise State and the current head coach of the New Orleans Saints. Petersen assumed he wouldn't hear back from McVay and said as much in his voicemail, adding that if he could help, he would. 'I was in my office at home,' McVay said. 'I've been a fan of his, and he was like, 'You probably don't know who I am,' which shows you his humility. I'm like, 'Yeah right.' I've been watching him for a long time, I knew exactly who he was.' Their first conversation lasted two hours. Advertisement After McVay's initial crash, he had worried about oversharing with family or friends. His problems were unique and privileged. At times, he felt guilty for even categorizing them as problems. But he was surprised at how easily he could unload to Petersen. The two men had common ground. They were from the same world. They both were deeply unhappy at the top of their respective careers and in relentless pursuit of what they believed was greatness. 'As a result of that chase, there were some good times, but there were a lot of times that I became somebody that I don't like,' said McVay, 'I think he would probably say the same thing.' Typical of football coaches, Petersen and McVay quickly fell into a routine of regular correspondence as the 2023 season began. McVay and his wife, Veronika, became parents that October. Petersen, who has two sons, often pressed McVay with questions or challenges that led to thoughtful conversations about how he was managing his time at home. Setting an example of perseverance for his son, Jordan, was a big factor in McVay's decision to stay in coaching, but could he be more present with his family, even in the middle of a season? Injuries and compounding losses made a 1-4 start to the 2024 season feel eerily similar to 2022. McVay admitted he still got just as angry and at times felt just as out of control. But this time, he kept his office door open. He held frequent one-on-one meetings with players and staff to reinforce their good habits and correct their bad ones. He took feedback from assistants, even his younger players. He delegated instead of taking every problem on himself. Daily, McVay repeated three things Petersen once said to him: Stay present. Stay grateful. Keep doing hard things. His team started to show a new kind of resilience that inspired him. Petersen believes it was also a reflection of McVay's internal progress. The Rams won nine of their next 12 games and became NFC West champions. In January, despite mass evacuations and a relocated wild-card game due to wildfires across Los Angeles, McVay's team stuck together, trouncing the Minnesota Vikings 27-9. In the swirling snow of the divisional round in Philadelphia, the Rams came just two plays short of beating the eventual Super Bowl-champion Eagles. As he stood in front of his players in the visitors' locker room moments after the loss, McVay said he was staggered at the hurt that flooded through him — not for himself, he realized, but for them. It was, he said, the first season he felt like an actual head coach. Advertisement 'I did not like being 1-4. But you know what I know about people? They can handle it,' McVay said. 'I know our coaching staff can handle it. … A few years ago, we wouldn't have been able to do the things we were able to do in terms of my role and responsibility as a leader. That's the truth. There's no f—ing way. I would have melted.' Lake joined the Rams as assistant head coach in 2023 following a short tenure at Washington. After spending the 2024 season as the defensive coordinator of the Atlanta Falcons, Lake returned to L.A. to work for McVay. He can see Petersen's influence. 'He's also extremely into pouring into people and getting the best out of them, and genuinely, authentically wants people to succeed around him,' Lake said. 'That is very much like Chris Petersen.' McVay still calls himself a 'basket case,' but usually he says it with a laugh. He is still driven by competition and even perfectionism, still feels the same anger and misery he always has when he loses or comes across a problem he can't immediately solve. 'I still am who I am,' he said, 'But these are skills you develop. … You're building skills and you're building opportunities to be resilient by acknowledging whatever those shortcomings are.' Influenced in part by Petersen, McVay said he will change the messaging and signage around the Rams' practice facilities this offseason. For years, his slogan and the starting point for his team culture has been 'We not me.' Now, it will say 'We then me.' The initial idea was to prioritize team over self. But, as McVay learned firsthand, when subjected to unique stress without constant maintenance, the self can decay — and maybe even destroy the collective. Now a college football analyst for Fox, Petersen quietly helps several coaches throughout all levels of the sport (and even people in other professions) in addition to McVay. In his ongoing conversations with 'Coach Pete', McVay practices reframing his worldview from quantifying every experience as a win or a loss, like he would on a football field, to something much more open-ended. Advertisement He reminds himself that there is no conclusion to the process of getting better, no score to keep. Petersen calls it 'becoming.' For McVay, it is an idea both radical and necessary. '(Petersen) always tells me that if he had one sign in his office if he ever got back into coaching, it would say, 'Who am I becoming as a result of this chase?'' McVay said. 'I think about that all the time.' (Illustration: Will Tullos / The Athletic; photos: Katelyn Mulcahy, Chris Butler / Getty Images)


Forbes
a day ago
- Forbes
Gene Therapy For Inherited Disease In Infants
As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat ... More inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth. For the first time, we are witnessing therapies that can fundamentally alter the course of inherited disease lifelong. The most recent breakthrough describes treating inherited disease in infants. In a case in Nature Medicine, a premature baby with a devastating genetic epilepsy syndrome achieved a 60% reduction in life-threatening seizures following treatment with an experimental therapy. This is the first installment in a two-part series describing the opportunities for correcting inherited defects before and immediately after birth. These therapies have provided a chance for those inherited diseases to be treated. Part 1 focuses on the treatment of a newborn. In contrast, Part 2 examines novel applications in the uterus as fetuses before they are born. Today, doctors can spot many genetic changes long before they cause problems. Sometimes, this is done through a noninvasive blood test from the mother during pregnancy or from a tiny drop of blood taken from a newborn's heel. These samples are analyzed using powerful genetic sequencing tools to search for signs of hundreds of inherited diseases quickly and accurately. With the help of artificial intelligence, doctors can screen for hundreds of conditions rapidly and accurately, making early detection more accessible than ever before. My new book explores how these breakthroughs are changing the lives of children and adults alike. For some families, this early detection is life-changing. In a recent case, a newborn began having seizures just days after birth. Using rapid genome sequencing to look for changes in the baby's DNA, they searched for anything that might explain the symptoms. They found a mutation in a gene known to cause a rare form of severe epilepsy. The ongoing electrical chaos caused by the mutation impairs brain development. The seizures can also cause delays or regressions in motor skills, language, and social interaction. Additionally, many suffer from sensory issues, losing the ability to track objects visually or respond to sounds. The discovery of the mutated gene allowed them to move quickly to the next step: targeted treatment. More tools than ever before are available to address the root cause when a concerning genetic change is detected. In this case, they used an innovative therapy designed to "quiet" the faulty gene, aiming to reduce the baby's seizures. In the reported case, the preterm infant receiving the therapy saw seizure frequency plummet from 20–25 hourly events to just 5–7. Current data showed that the therapy's effects waned after 4–6 weeks due to declining concentrations of the medicine, requiring repeat injections. The therapy proved safe over 20 months, and 19 treatments were performed, with no severe side effects observed. There is also strong clinical evidence of this treatment being effective in multiple animal models, though there are still challenges. Finding optimal dosing intervals for preterm infants is particularly challenging, as their rapid growth can significantly affect drug metabolism. Furthermore, frequent dosing risks overwhelming infant systems, while longer intervals may allow seizures to reappear and jeopardize developmental progress. Early trials indicate that monthly infusions might help maintain therapeutic levels. Safety is also a top priority as these therapies advance. While early trials have not reported organ toxicity or immune reactions, the long-term effects of chronic treatment with this therapy in developing brains remain uncertain. Prolonged exposure could disrupt key cognitive development processes. Still, the implications are profound. This case is more than a single success—it signals a paradigm shift. As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth. These kinds of breakthroughs are no longer a distant dream. Science and medical research are still pushing the cutting edge. Already, fetal surgeries have corrected structural defects in utero or the womb. The next leap is here: treating inherited disorders at the molecular level before a child is even born. The following story in this series will highlight the first successful use of gene therapy to treat spinal muscular atrophy before birth. The impact is profound for these children and their families. Early intervention can prevent irreversible damage, offering the potential for a normal childhood and a dramatically improved quality of life. As costs fall and technology improves, all newborns could soon have their DNA sequenced, enabling targeted treatments at the earliest and most effective stage. Over time, this approach will expand access, reduce the burden of inherited disease, and reshape the future of human health care. One profound question remains: If we correct a genetic error in a child, will that change be passed on to future generations? For now, most therapies target the body's somatic cells, not the germline—but as our tools improve, the possibility of heritable cures edges closer, raising hope and new ethical questions. As we stand at the frontier of precision neurology, cases like this illuminate a path forward. For families facing rare genetic epilepsies, this medicine offers more than seizure control. They provide a lifeline to cognitive and developmental gains previously deemed unattainable. While larger trials are needed, the era of disease-modifying therapies for pediatric brain disorders has unequivocally begun. Part 2 will delve into how correcting genetic errors before birth could rewrite the trajectory of inherited diseases.