National Public Radio, April 2026

An experimental gene therapy appears safe and highly effective for restoring hearing to people born with a rare form of deafness, researchers reported Wednesday. The study, the largest and longest to date to evaluate a gene therapy for hearing loss, provides powerful new evidence that the approach may provide the first way to restore hearing to people who are deaf.

"The results are really remarkable," Zheng-Yi Chen, an associate scientist at Mass Eye and Ear in Boston who led the study, published in the journal Nature. "This is really for the first time in the whole field a brand-new treatment option for genetic hearing loss. So that's very exciting."

The results, which confirm and extend a smaller study published two years ago, are consistent with those produced by several other research groups testing similar gene therapies for several forms of genetic deafness. In fact, a treatment developed by Regeneron Pharmaceuticals could soon become the first gene therapy for deafness to win approval from the Food and Drug Administration.

The flurry of advances is spurring increased interest in screening more babies for genetic deafness so they can be treated as young as possible. Early intervention appears to produce the best results. "Being able to restore natural hearing, I think, is a game changer for our field," said Dr. Lawrence Lustig, who chairs the Department of Otolaryngology-Head & Neck Surgery at Columbia University's medical school.

While the form of deafness treated in the new study is very rare, affecting about 50 babies born each year in the U.S., the success is prompting researchers to explore similar approaches for other rare forms of genetic deafness, which taken together are a significant cause of pediatric deafness.

Researchers also hope gene therapy may some day produce treatments for more common hearing loss caused by aging and loud noise. "It's sparking a lot of interest," Lustig says. "I know of a lot of groups that are thinking about clinical trials for these more common forms of deafness."

The study from Mass Eye/Ear involved 42 children and adults with autosomal recessive deafness 9 (DFNB9), which is caused by mutations in the OTOF gene. The gene provides instructions to make a protein called otoferlin, necessary for hair cells in the inner ear to transmit sound signals to the brain. 

"The children with this mutation will be born without any hearing. They're completely deaf. They couldn't hear anything," Chen says. "You could have an explosion next to their ear, and they wouldn't have any sensation."

Chen and colleagues at Fudan University in China infused used a virus called an adeno-associated virus into the ears of the deaf patients. The virus was carrying a healthy version of the gene that had been split in half to fit into the virus. The gene carries instructions to produce a working version of the otoferlin protein.

"The idea is to put what's missing in your ear so that your cells have this protein, will be able to function and can convert the sound into the signal so we can hear," Chen says.

The approach appears to have worked for about 90% of the patients, who ranged in age from babies less than a year old to adults as old as 32, according to the new report.

The patients began to start to hear for the first time within weeks, researchers found. Their hearing usually continued to improve for about six months, according to the report. The quality of the hearing varied, but reached near normal for many of the patients and has now lasted more than two years for some. And significantly, the patients who benefited could start to learn to speak, enabling them to communicate much more easily with those around them.

The results indicate this could be a one-and-done treatment that lasts a lifetime, profoundly transforming patients' lives, Chen says. "I couldn't be more excited about the results." The treatment appears very safe, but patients will have to be followed longer to make sure that the treatment continues to be safe and the benefits will be long-lasting.

From the Roswell Institute website, April 2026

An innovative treatment that has shown remarkable success against cancer is being adapted by physician scientists to target some of the most common autoimmune diseases. 

Alicia Lieberman, MD, MS, a rheumatologist and researcher specializing in cellular therapies for autoimmune disease at Roswell Park Cancer Center is leading work to determine whether CAR T-cell therapy, which transforms a patient’s own healthy cells to target and kill the cancerous cells, could do the same to these diseases. 

“It’s time for a new revolution,” Dr. Lieberman says. “We’re rethinking our approach to be able to offer an effective and safe immune reset.”

Autoimmune diseases including lupus, multiple sclerosis (MS) and rheumatoid arthritis are chronic, lifelong conditions where the body mistakenly attacks itself, causing inflammation, problems with mobility and memory. Symptoms can vary from burning and itchy skin to swollen joints to dizziness, and require medications to manage. 

Along with collaborator Shernan Holtan, MD, Chief of Blood and Marrow Transplant at Roswell Park, the goal is to develop cellular therapies as a one-and-done approach to treatment where one infusion could train patients’ bodies to be stronger to fight back against autoimmune disease within weeks. The team is looking at both standard-of-care options already in use — such as stem cell transplant — and investigational options available only through clinical trials.

“The long-term hope is that people don’t need medications for the rest of their lives and could potentially be cured,” Dr. Holtan says. 

According to the National Institutes of Health, nearly 1 in 10 Americans has an autoimmune disease. Denise Herkey-Jarosch, a 54-year-old Buffalo native, was diagnosed with MS when she was 24 and has struggled to control the disease.  “I still have permanent damage to different body parts that I have to still live with and manage,” says Herkey-Jarosch. “Having a medical campus here in Western New York so you can have that synergy of all those clinicians and patients and researchers so they can collaborate and share information is just brilliant. I’m thrilled this research is happening.”

Dr. Lieberman’s current focuses are addressing the needs of patients living with systemic lupus, lupus nephritis, systemic sclerosis and MS. She is looking at bone marrow transplants (also known as stem cell transplants) as a way to treat forms of MS and systemic sclerosis, and also hopes to study the effect of CAR T-cell therapy for rheumatoid arthritis, myositis, Sjogren’s disease and some pediatric autoimmune diseases.

“The nervous system can be particularly difficult as far as repair after damage, but we are actually getting some early signals that there can be some reversal of damage and restoration of function,” says Dr. Lieberman.

CAR T-cell therapy involves extracting T cells, a type of immune cell, from a patient’s blood and scientists engineer the cells in a specialized lab to recognize and kill cancer cells, B cells. The cells are then duplicated by the millions and replaced in the patient's body through an IV infusion. Dr. Lieberman says B cells in autoimmune diseases express the same markers seen in some cancers, leading her to believe the transformed T cells would also be able to target and eliminate the over-activated B cells that cause the development and progression of many of these conditions. 

The cells are processed in Roswell Park’s expanded Good Manufacturing Practice Engineering & Cell Manufacturing Facility (GEM), one of the largest facilities of its kind in the United States. Its 20 sterile “clean rooms” house unique resources available at the only National Cancer Institute-designated comprehensive cancer center in Upstate New York.

From Larry Luxner, first published on the Rare Disease Advisor website - edited for clarity 

In 2002, Don Brockman was diagnosed with amyloidosis. The following year, he and his wife launched the nonprofit Amyloidosis Foundation, and in 2007, fellow patient Dennis Krysmalski merged his Amyloidosis Support Network with the foundation.

For the past 20 years, Brockman’s widow, Mary O’Donnell, has led the small charity from Clarkston, Michigan. Today, as executive director and CEO, she supervises 3 employees and an annual budget of around $500,000. Among other things, the group exhibits at 5 medical conferences throughout the year, including those held by the American Society of Hematology, the American Association of Nurse Practitioners, the American College of Cardiology, and the Heart Failure Society of America.

According to Mary O’Donnell, executive director and CEO of the Amyloidosis Foundation "At the beginning, our primary mission was to support medical and scientific research for amyloidosis,” O’Donnell said. “Over the years, we started putting more emphasis on advocacy and patient support. We still have a primary role in providing research grants, but we also provide help for patients and their caregivers.”

One of the group’s grantees is Heather Landau, MD, a board-certified oncologist and hematologist at Memorial Sloan Kettering (MSK) Cancer Center on the Upper East Side of New York City. In 2015, the foundation awarded Dr. Landau a $50,000 research grant to study gene expression changes in light chain, or AL, amyloidosis. In early 2025, MSK won a $125,000 fellowship to support the training of a hematologist in the field of amyloidosis diagnosis and treatment.

An expert on amyloidosis, Dr. Landau recently spoke to Rare Disease Advisor from her 22nd-floor office on the eve of National Amyloidosis Awareness Month. Every March, patient advocates mark the month with a “Light the Night” campaign by illuminating hundreds of porches, bridges, and buildings in red to raise awareness about this complex, often misunderstood disease.

Dr. Landau said the future appears bright for amyloidosis treatment, which is diagnosed in at least 4000 Americans per year. Two rare forms of this disease are transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) and transthyretin amyloid polyneuropathy (ATTR-PN).

“Finally, pharmaceutical companies are partnering with us to try to develop drugs in this space,” she said. “For many years, because of the risk of sudden cardiac death in patients who presented with advanced cardiomyopathy, nobody wanted to study their drugs in a patient population who had that risk. That’s why we’ve lagged behind the drug development paradigm, compared to multiple myeloma.”

According to a 2019 article in the Journal of Cardiac Failure, 1 of 25 Black Americans carries the genetic mutation that can lead to ATTR-CM. But that doesn’t mean all such carriers will develop the condition. A separate type of the disease, known as wild-type ATTR, occurs for no apparent reason and is more likely in men and those over 65, according to the Cleveland Clinic.

Until relatively recently, Dr. Landau said, AL amyloidosis was the most common amyloid disease in the developed world, because the transthyretin (TTR) amyloid cases weren’t being diagnosed due to little awareness. But that’s changing. “Awareness is driving the incidence of diagnoses substantially,” she said. “Now that we have drug development in this space, this may be even more common than light chain amyloidosis because as we age—in mostly older men—their liver takes a wild-type or a normal transthyretin protein that begins to misfold, similar to a man developing prostate cancer. If you live long enough, you may develop wild-type TTR.”

One of the problems with amyloidosis, Dr. Landau said, is that its symptoms often mimic those of more common conditions. “When patients show up to their primary care physician or even a cardiologist with nonspecific symptoms, they don’t necessarily think of amyloidosis,” she said, adding that both ATTR-CM and ATTR-PN are caused by a misfolded transthyretin, a protein produced in the liver.

In January 2021, the US Food & Drug Administration (FDA) approved its first therapy for newly diagnosed AL amyloidosis. Daratumumab (marketed as Darzalex®), in combination with bortezomib, cyclophosphamide, and dexamethasone—the Dara-VCD regimen—was shown in a randomized trial to triple hematologic response rates and double organ response rates.

“It’s sad but true. In 2025, we still have only 1 FDA-approved treatment for this condition. But it happens to be very effective,” she said. “After that first-line therapy, nearly 60% of patients achieve a complete hematologic response. This leaves about 30-40% who need additional therapy, and we don’t have anything in that space,” Dr. Landau explained.

To that end. Dr. Landau is currently conducting the first CAR T-cell trial specifically for AL amyloidosis at MSK. “We have just passed our safety metric, and now we’re opening it to other centers,” she said. 

Originally published on the New York Stem Cell Foundation website 2/26.

INAD is a rare neurological disease affecting children, often referred to as a “pediatric Parkinson’s,” which is typically diagnosed between six months to three years of age. It is caused by mutations in a single gene (PLA2G6), but presents differently in each child, and there are currently no treatments available. 

In the study, NYSCF scientists made stem cell models from INAD patients, which in a recent international collaborative were used to identify new features of the disease, and four drugs that might reverse these features. The team also tested a potential gene therapy in mice that delayed neurodegeneration and prolonged lifespan. The study, published in eLife, included NYSCF Research Institute scientists led by Baylor College of Medicine’s Hugo Bellen, DVM, PhD. 

This study pinpoints novel hallmarks of cells affected by INAD and offers potential therapeutic options for the disease in the form of drugs or gene therapy. These findings could also be used to further our understanding of related, more common diseases such as Parkinson’s. 

“This research is focused on advancing our understanding of the underlying mechanisms of INAD so we can develop therapeutics to target the relevant pathways,” said INADcure, the patient advocacy charity that funded the work and a NYSCF partner. “Screening compounds on INAD disease models (including flies and patient cells) and pre-clinical gene therapy studies in mice provides valuable information that will help the research community and the INADcure Foundation in our mission to accelerate the development of therapeutics for INAD.”

NYSCF’s role in the study was to make stem cells from INAD-affected patients using NYSCF’s automated robotic platform, The NYSCF Global Stem Cell Array®. NYSCF has had a longstanding partnership with INADcure to collect cells from INAD patients and create human models of the disease to accelerate much-needed discovery. Our scientists then used gene editing technology to correct the disease-causing mutation in PLA2G6, and then converted both sets of stem cell lines into neurons, which are primarily affected in the disease.

“It seemed that the knowledge we can gain from looking at stem cells was important for understanding the disease mechanisms and ultimately coming up with a more effective treatment option,” noted INADcure founder Leena Panwala, whose daughter Ariya is affected with the disease. 

The scientists then turned their attention to how these hallmarks could be reversed with potential drugs. They began by choosing 20 drugs (several of which are currently being explored as options for treating Parkinson’s disease). Testing these drugs on INAD-affected neurons created from stem cells, as well as fruit fly models of the disease yielded four candidates – Ambroxol, Desipramine, Azoramide, and Genistein – that could ameliorate INAD features.

The researchers then wondered whether targeting PLA2G6 directly could improve INAD prognosis. The team tested a gene therapy approach in mouse models, introducing a healthy version of the PLA2G6 gene to compensate for the malfunction of the mutated copy. Excitingly, mice who received the gene therapy showed delays in neurodegeneration as well as a prolonged lifespan. This exciting pre-clinical work suggests that such a therapy could be effective in humans.

Not only will all of this be important for INAD patients, but could also be informative for studies of more common diseases like Parkinson’s, which shares many characteristics with INAD.

“This study is an excellent demonstration of the power of stem cell models to help us understand and treat rare diseases,” said Rick Monsma, PhD, NYSCF’s SVP of Scientific Operations, who oversees the NYSCF laboratories. “NYSCF is proud to bring our technology to bear on this important, unmet need, and we are hopeful that the therapeutic leads from this study will pay off in our continued work with INADCure and Dr. Bellen’s lab.”

Originally published by Spectrum News Staff on Jan. 26, 2026

Construction has begun on the $1.7 billion Wadsworth Center Laboratory on the W. Averell Harriman Campus in Albany, Gov. Kathy Hochul announced Monday, saying the public health facility will allow New York to detect, prevent and respond to emerging health threats. 

The project brings the five unconnected Wadsworth labs and about 800 employees together on one 27-acre site. 

Gilbane Building Company, Turner Construction Company and HOK architects designed the new five-story, 663,000-square-foot laboratory, Hochul said. Years in planning, she said it will be completed in 2030. 

“The lab will allow the State to better predict and prepare for emerging threats to public health and will be one of the most authoritative public health laboratories in the country, impacting public health policy and practice at the state, national and international level,” the governor said in a statement.

The Wadsworth Center is 125 years old this year. The new center's location will allow for closer collaboration with nearby SUNY Albany and the neighboring New York State Department of Agriculture and Markets Food Laboratory.

State Sen. Pat Fahy called the project the largest public investment in the Capital Region in decades. 

State Health Department Commissioner Dr. James McDonald said, the facility "will help us ensure our nation-leading public health research laboratory remains on the cutting edge of biomedical and environmental research critical to protecting public health.” 

Additional renderings of the new construction can be seen here.

Originally published 2/26 on the NYS Department of Health website

In October 2023, the New York State Newborn Screening Program launched a landmark one-year pilot study to screen every infant born in the state for congenital cytomegalovirus (cCMV). The results of this study, funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, were recently published in JAMA Network Open, confirming the feasibility of using dried blood spots for large-scale cCMV screening. While cytomegalovirus is common and often harmless in most people, infection in utero can lead to severe complications. It is the leading cause of nonhereditary childhood hearing loss and can result in microcephaly, visual impairment, and seizures.

The program utilized quantitative polymerase chain reaction (qPCR) to analyze dried blood spots from approximately 208,000 newborns. The screening identified several key data points regarding the prevalence of CMV infection and treatment for cCMV:

• Screening Results: 529 newborns (1 in 393) screened positive, referred for specialty care.

• Confirmed Diagnoses: 276 infants were confirmed to have cCMV (1 in 755).

• Clinical Presentation: Among the confirmed cCMV cases, 24.6% were symptomatic, 71.4% were asymptomatic, and 4.0% presented with isolated hearing loss.

• Treatment: Notably, 70.6% of symptomatic infants received antiviral medication. Many were treated as a direct result of early detection by newborn screening.

The study successfully demonstrated that universal screening allows families to access subspecialists early, which could lead to improved developmental and hearing outcomes. However, the pilot also identified challenges to implementation of universal cCMV screening, including the high frequency of detecting postnatally-acquired CMV (which is less severe than congenital infection), false-positive and false-negative results, and the complexities of managing long-term follow-up for infants who are asymptomatic at birth but may be at risk for later-onset developmental issues or hearing loss. 

For more on the NYS Dept. of Health Newborn Screening Program CLICK HERE