Health
Mutated DNA Restored to Normal in Gene Therapy Advance
Researchers have corrected a disease-causing gene mutation with a single infusion carrying a treatment that precisely targeted the errant gene.
This was the first time a mutated gene has been restored to normal.
The small study of nine patients announced Monday by the company Beam Therapeutics of Cambridge, Mass., involved fixing a spelling error involving the four base sequences — G, A, C and T — in DNA. The effect was to change an incorrect DNA letter to the right one. The result was a normal gene that functioned as it should, potentially halting liver and lung damage of patients with a rare disorder.
“This is the beginning of a new era of medicine,” said Dr. Kiran Musunuru, a gene therapy researcher at the University of Pennsylvania’s Perelman School of Medicine.
He added that the method offers the hope of treating other genetic diseases precisely by fixing mutations — an alternative to current gene therapies, which either add new genes to compensate for mutated ones, or slicing DNA to silence genes.
Dr. Musunuru is a co-founder and equity holder of Verve Therapeutics, a gene therapy company, and receives funding from Beam Therapeutics for research, but not for this study.
Dr. Richard P. Lifton, president of Rockefeller University and head of its Laboratory of Human Genetics and Genomics, said the sort of gene editing Beam did, rewriting genes with an infusion, “is a holy grail” that “has the promise for being a one-and-done kind of therapy.”
Dr. Lifton is a director of Roche Pharmaceuticals and its subsidiary Genentech.
Despite the study’s small size, he said the results are “a very impressive advance and very promising.”
The study involved patients who have alpha-1 antitrypsin deficiency, or AATD, a genetic disease that affects an estimated 100,000 Americans, mostly of European ancestry. That makes it as common as sickle cell in this country. It is progressive and incurable.
The alpha-1 antitrypsin protein is made in the liver and normally goes to the lungs and protects them from inflammation from inhaled irritants like smoke or dust. But in people with the disease, a single change in a DNA letter in the gene results in a misshapen and nonfunctional protein. The result is often emphysema or chronic obstructive pulmonary disease in unprotected lungs.
But many of the aberrant alpha-1 antitrypsin proteins never get to the lungs and instead build up in patients’ livers, often causing cirrhosis.
The gene editing was simple for patients. They sat in a chair for a couple of hours while lipid nanoparticles, like those used in Covid vaccines, were infused into their blood. The nanoparticles did not hold vaccines, though. Instead, they encased a microscopic gene editor. The lipid casing protected the editor on a journey to the liver.
When the nanoparticles reached the liver, the lipid layer peeled off, releasing the editor — a disabled CRISPR molecule that acted like a GPS for the genome and an enzyme to fix the mutation. The CRISPR molecule crawled along the patient’s DNA until it found the one incorrect letter that needed to be repaired among the three billion DNA letters in the genome. Then the editing enzyme replaced that letter with the correct one.
The study divided the patients into three groups and tested three different doses of the gene editor. Those who got the highest dose made enough normal alpha-1 antitrypsin to be in a range where no more damage should occur. There were no serious side effects, said John Evans, Beam’s chief executive officer.
Beam will now be offering the higher dose to the patients who got the lower doses in the company’s study. Beam will also study the treatment in more patients, and test an even higher dose of its gene editor.
“And then we immediately have to think about how we can get this approved,” Mr. Evans said.
Dr. Noel McElvaney, a professor at the Royal College of Surgeons in Ireland and an investigator in the Beam study, said there’s a real need for an effective treatment to halt the damage done by the mutated gene. He said he sees patients in their 30s and 40s with severe emphysema and “really bad liver disease.” And, he said, “by the time we see them there is already a significant amount of damage.”
For those suffering the worst effects of AATD, he said, the new gene therapy is “a major major breakthrough.”
“The big pro” of the new treatment, he said, is that “it theoretically cures the liver and lung disease in one go.”
Dr. McElvaney added, though, that “like all genetic interventions, we have to follow up for a long time to make sure it’s as good as we think it is.”
But patients now have renewed hope, said Dr. Andrew Wilson, scientific director of the Alpha-1 Foundation, an advocacy group.
“We have been dreaming of gene therapy as a treatment for this disease,” he said.
Use left and right arrow keys to navigate between menu items.
Use escape to exit the menu.
Sign Up
Create a free account to access exclusive content, play games, solve puzzles, test your pop-culture knowledge and receive special offers.
Already have an account? Login
NEWYou can now listen to Fox News articles!
Comedian Amy Schumer, 44, has recently come clean about her struggle with Cushing’s syndrome, leading to a dramatic weight loss.
Schumer’s transformation has sparked conversation online, to which she responded in a now-deleted Instagram post that shut down speculation about cosmetic enhancements.
“I didn’t lose 30lbs — I lost 50,” she emphasized on social media, adding that she does not get Botox or filler.
AMY SCHUMER DROPPED 50 POUNDS TO BATTLE DISEASE THAT ‘CAN KILL YOU’ IF UNTREATED
Schumer doubled down that her weight loss was not about her appearance, but about staying alive.
“Not to look hot, which does feel fun and temporary,” she said. “I did it to survive. I had a disease that makes your face extremely puffy that can kill you, but the internet caught it and that disease has cleared.”
Amy Schumer attends Variety’s 2024 Power of Women: New York event on May 2, 2024, in New York City on the left. On the right, Schumer later poses for a photo posted to Instagram after her weight loss. (Marleen Moise/WireImage; Amy Schumer/Instagram)
“Sorry for whatever feeling it’s giving you that I lost that weight,” she added. “I’ve had plastic surgery over the years and I use [Mounjaro]. Sorry to anyone they let down. I’m pain free. I can [play] tag with my son.”
ON A GLP-1? HOW TO SURVIVE HOLIDAY MEALS WITHOUT DERAILING YOUR PROGRESS
The actress also addressed her shifting hormones, saying that she’s “happy to share more if anyone has any questions about how I’m looking or feeling or where I am in my perimenopause process.”
“I didn’t lose 30lbs — I lost 50,” Schumer emphasized on social media, adding that she does not get Botox or filler. (Amy Schumer/Instagram)
What is Cushing’s syndrome?
Schumer previously revealed that she had been diagnosed with Cushing’s syndrome, a hormonal disorder that can cause extreme swelling, fatigue and potentially fatal complications.
Dr. Peter Balazs, a hormone and weight loss specialist in New Jersey, provided more details on the condition in an interview with Fox News Digital.
CLICK HERE TO DOWNLOAD THE FOX NEWS APP
“Cushing’s syndrome is caused by prolonged, high exposure to cortisol, which is your body’s main stress hormone,” he said. “Usually, the excess cortisol is a result of prolonged steroid use. We see this many times with patients who have some autoimmune disorder.”
Balazs said the “key” to Cushing’s syndrome is not just weight gain, but a “specific redistribution” of fat caused by too much cortisol.
Amy Schumer is photographed during a guest interview on The Tonight Show Starring Jimmy Fallon on Feb. 13, 2024 (left), and later seen walking through midtown New York City on Oct. 28, 2025 (right). (Todd Owyoung/NBC via Getty Images; Raymond Hall/GC Images/Getty Images)
Fat may be driven to the abdomen, chest, upper back (referred to as a “buffalo hump”) or face, sometimes considered “moon face,” the doctor said.
Cortisol also breaks down protein, which leads to a thinning in the arms and legs. “Weight gain can be tough, involuntary and hard to manage,” Balazs added.
CLICK HERE FOR MORE HEALTH STORIES
Cortisol stimulates “hunger centers” in the brain, raises blood sugar and promotes fat storage, especially deep belly fat, according to the doctor.
Cushing’s syndrome can also cause high blood pressure, bone loss and sometimes type 2 diabetes, per Mayo Clinic.
In addition to weight gain in certain areas, other symptoms may include pink or purple stretch marks on the stomach, hips, thighs, breasts and underarms, as well as acne, slow wound healing, and thin, frail skin that bruises easily.
With Cushing’s syndrome, fat may accumulate in the abdomen, chest, face or upper back (referred to as a “buffalo hump”). (iStock)
Women with Cushing’s syndrome often experience thick, dark hair on the face and body, as well as irregular periods. Symptoms among men can include a lower sex drive, reduced fertility and erectile dysfunction.
Mayo Clinic listed other potential symptoms, including extreme fatigue, muscle weakness, depression, anxiety, irritability, mood swings, trouble with concentration and memory, headache, sleeplessness, skin darkening and stunted growth in children.
CLICK HERE TO SIGN UP FOR OUR HEALTH NEWSLETTER
Those with symptoms should contact their doctor immediately, especially if they are taking steroids to treat health issues like asthma, arthritis or inflammatory bowel disease, as these medications can exacerbate the condition.
The Mayo Clinic has reported that the “sooner treatment starts, the better the chances for recovery.”
“I’ve had plastic surgery over the years and I use [Mounjaro],” Schumer stated in a social media post. (George Frey/Bloomberg)
For patients like Schumer, weight loss is typically not the main goal, Balazs noted, but it is a “critical sign” of successful treatment.
“The primary goal is to normalize your high cortisol levels,” he said. “I believe Amy Schumer got treated first for her underlying problem. Once the cortisol is normalized, which is the most important step, there’s a role to use adjunct medications to decrease weight.”
TEST YOURSELF WITH OUR LATEST LIFESTYLE QUIZ
Among GLP-1s, Mounjaro is an “excellent choice to decrease deep belly fat and increase insulin sensitivity of cells,” Balazs added.
Fox News Digital’s Stephanie Giang-Paunon contributed to this report.
Fox News Digital reached out to Schumer’s rep requesting comment.
NEWYou can now listen to Fox News articles!
VIRAL OUTBREAK — Measles surge leads to hundreds quarantined in U.S. county, officials say
SNOOZE AND LOSE — Popular sleep positions could be damaging your nerves, according to experts
The South Carolina Department of Public Health confirmed that 254 people are currently in quarantine in the upstate region. (iStock)
MUSCLE MATTERS — A new Ozempic-alternative diabetes pill burns fat without loss of body mass
50 POUNDS DOWN — “Effortless” weight loss was sparked by 3 simple habits, says “Top Model” winner
SIGN UP FOR OUR HEALTH NEWSLETTER
BEAUTY BEWARE — Cosmetic fillers can cause deadly complication, experts warn
‘AGING BACKWARDS’ — Simon Cowell touts controversial blood-rinsing procedure
Simon Cowell reveals he’s “aging backwards” with a controversial blood filtering treatment that removes and cleanses his blood before returning it to his body. (Ricky Vigil M/GC Images)
MEMORY THREAT — Alzheimer’s risk could rise with common condition affecting millions
LIKE WHAT YOU’RE READING? CLICK HERE FOR MORE HEALTH NEWS
FOOD FOR THOUGHT — Scientists reveal the one practice that could prevent dementia as you age
Pittsburgh braces for heavy snowfall and frigid temperatures | Live First Alert Weather
Richmond County deputies searching for suspect after armed robbery on Wheeler Road
How Maryland is Tackling Traffic Delays and Enhancing Travel to Washington D.C. Through Key Infrastructure Upgrades, Here is All You Need to Know – Travel And Tour World
Abrupt funding freeze leaves Ohio manufacturing programs with uncertain future
Building cleared after non-credible bomb threat made in Downtown Austin
Florida High School Football Rankings: Top 25 teams – Oct. 21
Cleary's 21 help Le Moyne down Central Connecticut State 69-64 in OT
How old is Bo Nix? What to know about Oregon quarterback ahead of 2024 NFL Draft
99th annual Pony Swim held in Virginia
Video: ‘It Didn’t Have to Happen This Way:’ U.Va. Faculty Call for Review of Police Response to Protests
Video: At Least Two Killed in Shooting at Brown University
FBI ousts reinstated whistleblower over unauthorized media talks, ‘poor judgment’
EU dismisses Russia’s lawsuit against Euroclear as ‘speculative’
Multiple people shot near Brown University, police say
Inside Minnesota’s $1B fraud: fake offices, phony firms and a scandal hiding in plain sight
-
Alaska1 week agoHowling Mat-Su winds leave thousands without power
-
Texas1 week agoTexas Tech football vs BYU live updates, start time, TV channel for Big 12 title
-
Ohio1 week agoWho do the Ohio State Buckeyes hire as the next offensive coordinator?
-
Washington5 days agoLIVE UPDATES: Mudslide, road closures across Western Washington
-
Iowa7 days agoMatt Campbell reportedly bringing longtime Iowa State staffer to Penn State as 1st hire
-
Miami, FL7 days agoUrban Meyer, Brady Quinn get in heated exchange during Alabama, Notre Dame, Miami CFP discussion
-
Cleveland, OH7 days agoMan shot, killed at downtown Cleveland nightclub: EMS
-
World6 days ago
Chiefs’ offensive line woes deepen as Wanya Morris exits with knee injury against Texans
