How a Medical First Fixes Genetic Disease in Living Patients

Scientists have achieved a medical first – successfully correcting a disease-causing genetic mutation in living patients. Beam Therapeutics announced early results from its Phase 1/2 trial showed that a single dose of its drug fixed a specific genetic error that causes a hereditary condition affecting both lungs and liver.

This milestone is the first time a technique called base editing has worked to correct a mutation in humans. The treatment acts like a molecular pencil, changing just one letter in the genetic code. Unlike many genetic therapies that add new genes to cells, this approach directly repairs the existing mutation at its source.

Beam tested the therapy in patients with alpha-1 antitrypsin deficiency (AATD), a condition that affects about 100,000 Americans. Currently, no other treatments address the disease’s its genetic cause. Patients eventually need lung transplants, liver transplants or both.

Roche Bets $5 Billion on Obesity Partnership with Zealand

“Best case scenario” — that’s how analysts at Jefferies described Roche’s newly inked deal with Zealand Pharma, signaling that the Swiss pharma giant is making a decisive move to challenge the dominance of Novo Nordisk and Eli Lilly in the multibillion-dollar obesity market.

In a $5.3 billion agreement, Roche has partnered with Denmark’s Zealand Pharma to co-develop and co-commercialize petrelintide, an experimental long-acting amylin analog for weight management. Unlike existing blockbuster GLP-1 receptor agonists like Novo’s Wegovy and Lilly’s Zepbound, amylin-based therapies offer a different mechanism of action — restoring sensitivity to leptin, the satiety hormone, to promote weight loss.

Roche’s entry into the space could shake up an increasingly crowded field. Novo and Lilly are setting record sales, but Roche is betting that alternative weight-loss mechanisms and better tolerability could give petrelintide a competitive edge.

Amylin-based therapies could be positioned as complementary to GLP-1 drugs or even preferred for patients struggling with tolerability issues like nausea and vomiting. Zealand has suggested that petrelintide could achieve GLP-1-like weight loss with fewer side effects. Jefferies projects peak sales of $10 billion globally.

Why FDA is Cracking Down on Dangerous Fat-Dissolving Injections

The FDA is cracking down on unapproved and potentially dangerous injections meant for dissolving fat. The unregulated aesthetic shots, sold under brand names Aqualyx, Lipodissolve, Lipo Lab and Kabelline — are promoted for fat reduction in areas like the chin, stomach, thighs and upper arms. Many contain phosphatidylcholine (PPC) and sodium deoxycholate (DC), ingredients that the agency warns pose serious health risks when used without proper regulatory oversight.

Some people who received these injections have reported permanent scarring, infections, skin deformities, cysts and painful nodules. The FDA issued warning letters to six companies, including Amazon, for selling these injections.

Currently, the only FDA-approved fat-dissolving injectable is Kybella, which is specifically indicated for reducing submental fat under the chin. The agency warns that no injectable fat-reduction product has been approved for use in other areas of the body.

How New Noninvasive Hearing Aid Uses Vibration to Improve Sound

Researchers at Wake Forest University School of Medicine have developed a flexible, Band-Aid-like hearing aid that could provide a less invasive solution for children with hearing loss.

Conductive hearing loss, which blocks sound transmission through the ear, most commonly occurs in childhood due to infections, blockages or structural abnormalities.

Current treatment options often involve invasive surgeries or implantable devices that can be especially challenging for pediatric patients. The new device creates tiny vibrations directly on the skin behind the ear to help sound reach the inner ear.

By using multiple tiny vibration points instead of a single one, the researchers found they could improve sound transmission more effectively. It's similar to how multiple speakers can create a richer sound than a single speaker.

In a study of 10 participants, the device significantly improved sound perception. The researchers tested two different designs of these vibration points, with the stacked design showing particular promise. Participants reported clearer sounds and better ability to detect even soft noises.

Stand Up for Science Day

On Friday, March 7, scientists and supporters will rally in Washington D.C. and dozens of other US cities to draw attention to what they describe as political interference in scientific research.

The "Stand Up for Science" organizers say recent changes in federal science policy have undermined research integrity through censorship and funding cuts. Their policy goals include prohibiting political censorship in scientific research, restoring public access to scientific information on federal websites to pre-January 31 status and protecting scientists' rights to communicate findings without fear of retaliation.

The D.C. event will be held in front of the Lincoln Memorial, and scheduled speakers include a long list of luminaries, including Atul Gawande, MD, PhD; Francis Collins, MD, PhD; Emily Whitehead and many others.

“Our policy goals include a restoration of federal scientific funding, the reinstatement of wrongfully terminated employees at federal agencies, an end to governmental interference and censorship in science, and a renewed commitment to diversity, equity, inclusion, and accessibility in science,” the organization said in a news re“We are also committed to empowering scientists–and anyone who has benefited from scientific advancements–to engage in sustained advocacy in the years to come.”

The rally calls for reinstating federal funding for scientific research to fiscal year 2024 levels and committing to a 20 percent increase over the next three years. Organizers also demand the rehiring of what they term "unlawfully terminated scientists and administrators" at federal agencies including the NSF, NIH, CDC and NASA.

The rally echoes protests by the scientific community that started in 2017, when scientists organized the first March for Science during Trump’s first term in office.

FDA Approves First New Hormone-Free IUD in More Than 40 Years

The FDA has approved Miudella, the first new hormone-free copper intrauterine device to enter the US market in more than four decades. Developed by Sebela Women's Health Inc., the device provides pregnancy prevention for up to three years.

The device features the smallest hormone-free flexible IUD frame available in the United States, measuring 32 mm horizontally and 30 mm vertically. It comes fully preloaded for easier insertion by healthcare providers.

Clinical trials involving 1,904 women showed 99 percent effectiveness over three years. Researchers also noted lower rates of discontinuation due to pain and bleeding compared to traditional IUDs, with these adverse events decreasing from 8.5 percent in year one to 3.2 percent by year three.

The American College of Obstetrics and Gynecology identifies long-acting reversible contraceptives like IUDs as among the most effective birth control methods, yet over 41 percent of pregnancies in the United States remain unintended.

New Brain Stimulation System for Parkinson’s

The FDA has approved the world's first adaptive deep brain stimulation system that automatically adjusts therapy based on real-time brain activity in people with Parkinson's disease.

Developed by Medtronic, the BrainSense Adaptive deep brain stimulation technology functions similarly to a cardiac pacemaker but for the brain, transmitting electrical signals to specific brain areas affected by Parkinson's. This adaptive approach minimizes the need for patients to manually adjust stimulation and represents the largest commercial launch of brain-computer interface technology to date.

"For patients who struggle with motor symptom fluctuations, dyskinesias, and other side effects with continuous DBS, adaptive DBS may offer improved symptom control," said Todd Herrington, MD, PhD, Director of the Deep Brain Stimulation Program at Massachusetts General Hospital, in a news release.

The approval also includes the BrainSense Electrode Identifier, which helps reduce clinic time by allowing for 85 percent faster initial programming compared to traditional methods.

Rare diseases, a group of more than 7,000 conditions, impact roughly 4 to 6 percent of the global population — about 300 million people worldwide. Often shrouded in diagnostic uncertainty, many patients face years of misdiagnosis even with advanced testing. As today, February 28, is Rare Disease Awareness Day, we have focused our news items on that topic.

Mayo Uses AI to Speed Up Rare Disease Diagnosis

The Mayo Clinic is expanding its efforts to help patients with undiagnosed and rare diseases by integrating AI-powered diagnostics and genetic counseling into its Program for Rare and Undiagnosed Diseases.

Since 2019, the program has analyzed genetic data from more than 3,200 patients, using AI to detect hard-to-spot genetic mutations and match individuals to existing treatments that could be repurposed for their conditions. Beyond diagnosis, Mayo is working to use its rare disease findings to improve clinical trial recruitment and accelerate the development of targeted therapies for patients.

"Every breakthrough we make brings us closer to the day when rare diseases once thought untreatable can be managed or even cured," said Timothy Curry, associate director of Practice Implementation at Mayo's Center for Individualized Medicine, in a news release.

At a separate Rare Disease Day event hosted by Mayo, Durhane Wong-Rieger, PhD, President of the Canadian Organization for Rare Disorders, noted that even with advances in AI that help with patient identification, many individuals remain undiagnosed.

“I hear over and over again from our children’s hospitals — 90 percent of the kids in my emergency room are kids with undiagnosed rare conditions,” she said during the event. “The challenge is trying to identify some of these patients, especially when we do have treatments, but they aren’t getting diagnosed early enough or sometimes at all.”

Researchers Discover Dozens of New Rare Disease Gene Links

A landmark study published in Nature reports the identification of dozens of previously unknown genetic links to rare diseases, potentially solving cases that have evaded diagnosis for years.

Researchers from Newcastle University, UCL, and Queen Mary University of London analyzed genetic data from the 100,000 Genomes Project, examining nearly 35,000 individuals and their family members. Their analysis identified variants in 69 genes not previously linked to rare diseases. The discoveries focus on rare forms of diabetes, schizophrenia, epilepsy, Charcot-Marie-Tooth disease and eye abnormalities.

"For patients living with rare diseases, where there is no known genetic basis, this work shows how the scale of national genome sequencing projects can provide answers," said Neil Rajan, MD, PhD, Professor of Dermatogenetics at Newcastle University, in a news release. “The ‘diagnostic odyssey’ is a challenge that is faced by the rare disease community, and the discovery of new genes is a key step towards improving this for patients.”

Simple Blood Test Improves Mitochondrial Disorder Diagnosis

A simple blood marker now helps doctors identify rare mitochondrial disorders with much greater reliability, offering clearer answers for patients who often face years of inconclusive testing.

Researchers found that measuring the protein GDF15 increases the accuracy of identifying mitochondrial DNA-related disorders by 14-fold. Patients with elevated levels had about 41 percent odds of having the condition compared to less than 3 percent for those with normal levels.

The discovery, noted in the Rare Diseases Clinical Research Network’s January report, also highlights how cells beneath the esophagus lining contribute to symptom severity in eosinophilic esophagitis, explaining why some patients struggle more with swallowing difficulties.

Additionally, women with Charcot-Marie-Tooth disease report more life impact than men despite similar clinical measurements, an insight that will shape how researchers design upcoming treatment trials for this nerve condition.

NIH-FDA Postpone Annual Rare Disease Day Event

The annual FDA-NIH Rare Disease Day event, typically held each February, has been postponed indefinitely.

After "much consideration," organizers announced the decision to reschedule the two-day event originally planned for February 27-28. The brief statement offers no specific reason for the delay, noting only that the agencies want to "make sure we can fully focus on the event to make it the best that it can be."

The postponement impacts a major gathering that brings together researchers, clinicians, patients, caregivers and advocacy groups to share advances in diagnostics and therapeutic development. The event typically highlights federal initiatives designed to accelerate rare disease research and reduce regulatory barriers while maintaining safety standards.

The NIH's National Center for Advancing Translational Sciences indicated the event will be rescheduled "in the coming months," though no specific timeline was provided.

Healthcare Leaders Eye 2025 for Growth Despite Affordability Concerns

Healthcare executives are entering 2025 with renewed optimism, according to Deloitte's latest US healthcare industry outlook. Nearly 60 percent of leaders express a favorable outlook, with 69 percent anticipating revenue increases and 71 percent expecting improved profitability.

The dual challenge? Balancing growth strategies while ensuring healthcare remains affordable for consumers. Executives cite developing growth strategies (65 percent) and addressing consumer affordability (46 percent) as their top priorities for the year ahead.

Health plans and systems are taking different approaches. Plans are focusing on transformative technologies like generative AI, while systems prioritize strengthening legacy technologies and addressing persistent workforce challenges. Both sectors recognize that no single strategy will suffice in today's complex market.

The Trump administration adds another layer of uncertainty, with 44 percent of executives indicating regulatory changes could influence their strategies in 2025.

No Pain, All Gain from New Drug Class

Developing new non-addictive pain medications has been a fraught enterprise for years, but a new drug class could create new therapeutic options for patients.

Numerous failures, denials by the US Food and Drug Administration (FDA) and the ever-present placebo effect, which inexplicably does a decent job in providing pain relief in clinical trials and impacts statistical significance for active drug arms, all have hindered development of new drugs. But Vertex surmounted all of these hurdles, scoring a big win on Jan. 30 when the FDA approved its first-in-class non-opioid analgesic called Journavx, to treat moderate to severe acute pain in adults.

Now, other companies working on developing pain medications are starting to see investor interest. Endpoints News reported Feb. 18 that Latigo Biotherapeutics, a company working on non-opioid pain therapies, is targeting up to $150 million in a new funding round. Both Vertex’s medicine and Latigo’s block the same sodium channel that send pain signals to the brain.

The potential growth of this new drug class for different types of pain has been the talk of researchers and scientists who have worked in this area, Yale School of Medicine wrote last year.

Rural Health Gets AI-Powered Mobile Update

What happens when you combine cutting-edge AI with mobile healthcare? The Advanced Research Projects Agency for Health. an independent agency within the National Institutes of Health (NIH), is betting millions that the combination could transform rural medicine.

The government agency recently selected 12 teams to develop various aspects of these mobile clinics — from rugged CT scanners to modular vehicle designs that can be reconfigured like "cargo containers on a train."

One team, led by the University of Michigan, received $25 million to build an AI assistant that can guide healthcare workers through specialized procedures they wouldn't normally perform.

"We want to bring the hospital to the house, or to the church parking lot," said Jason Corso, director of the AI project and University of Michigan professor of robotics, electrical engineering and computer science.