Discovery Science - Mayo Clinic News Network https://newsnetwork.mayoclinic.org/category/research/discovery-science/ News Resources Mon, 25 Aug 2025 14:37:38 +0000 en-US hourly 1 https://wordpress.org/?v=6.8.2 Mayo Clinic researchers discover the immune system’s ‘fountain of youth’ https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-discover-the-immune-systems-fountain-of-youth/ Thu, 14 Aug 2025 15:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=405382 Researchers found a link between "immune youth," a new term coined by Mayo researchers, and autoimmune disease.

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Immunofluorescent image of immune cells in tissues affected by giant cell arteritis.
Immunofluorescent image of immune cells in tissues affected by autoimmune disease, giant cell arteritis.

ROCHESTER, Minn. — The immune system is meant to protect the body from infection and disease. But with age, it can become less capable of doing so. However, Mayo Clinic researchers have found that some older people maintain "immune youth" – a new term coined by Mayo researchers to explain a young immune system in someone over age 60.

Mayo Clinic researcher Dr. Cornelia Weyand
Cornelia Weyand, M.D., Ph.D.

"We are studying why some individuals have a 'fountain of youth' in their immune systems. We want to learn from them," says Cornelia Weyand, M.D., Ph.D., a Mayo Clinic rheumatologist and clinician-scientist. She is a lead author on a perspective paper published in Nature Aging.

Dr. Weyand's research team discovered this cellular fountain of youth in more than 100 older patients who came to Mayo Clinic to receive treatment for an autoimmune disease that affects the arteries, including the aorta, called giant cell arteritis. Dr. Weyand and colleagues found in the diseased tissue of these patients specialized immune cells, called stem-like T cells. These immune cells behave like young stem cells that usually regenerate and aid healing and growth; but in this case, they were spreading the disease. This team of researchers also discovered autoimmune stem cells in humans previously.

"We observed that these patients have very young immune systems despite being in their 60s and 70s. But the price they pay for that is autoimmunity," she says.

Autoimmunity is when the immune system mistakenly attacks healthy tissues and organs.

In addition, the researchers saw that the immune checkpoint inhibitors that regulate the immune system were not working properly.

Benefits of immune system aging

"Contrary to what one may think, there are benefits to having an immune system that ages in tandem with the body," says Jörg Goronzy, M.D., Ph.D., a Mayo Clinic researcher on aging who is a co-lead author of the paper. "We need to consider the price to pay for immune youthfulness. That price can be autoimmune disease."

Immune aging is a sophisticated adaptation mechanism that the immune system can use to prevent autoimmune disease, say the researchers.

They are in the process of developing new diagnostic tests that will help find patients and healthy individuals who carry high numbers of immune stem cells and may be predisposed to autoimmune disease later in life. The research is part of a larger effort at Mayo Clinic called the Precure initiative, focused on developing tools that empower clinicians to predict and intercept biological processes before they evolve into disease or progress into complex, hard-to-treat conditions.

Review the study for a complete list of authors, disclosures and funding. 

Additional resources:
Mayo Clinic advances research on mysterious blood vessel disease

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

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Mayo Clinic researchers find ‘sugar coating’ cells can protect those typically destroyed in type 1 diabetes https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-find-sugar-coating-cells-can-protect-those-typically-destroyed-in-type-1-diabetes/ Fri, 01 Aug 2025 16:01:00 +0000 https://newsnetwork.mayoclinic.org/?p=405167 Mayo Clinic researchers found that a sugar molecule on cancer cells may eventually be useful in the treatment of type 1 diabetes.

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An immunofluorescence microscopy image shows a cluster of insulin-producing beta cells (green) under attack by immune cells (dense cluster of blue dots) in a preclinical model of type 1 diabetes.
An immunofluorescence microscopy image shows a cluster of insulin-producing beta cells (green) under attack by immune cells (dense cluster of blue dots) in a preclinical model of type 1 diabetes.

ROCHESTER, Minn. — Scientific breakthroughs in one disease don't always shed light on treating other diseases. But that's been the surprising journey of one Mayo Clinic research team. After identifying a sugar molecule that cancer cells use on their surfaces to hide from the immune system, the researchers have found the same molecule may eventually help in the treatment of type 1 diabetes, once known as juvenile diabetes.

Type 1 diabetes is a chronic autoimmune condition in which the immune system errantly attacks pancreatic beta cells that produce insulin. The disease is caused by genetic and other factors and affects an estimated 1.3 million people in the U.S.

In their studies, the Mayo Clinic researchers took a cancer mechanism and turned it on its head. Cancer cells use a variety of methods to evade immune response, including coating themselves in a sugar molecule known as sialic acid. The researchers found in a preclinical model of type 1 diabetes that it's possible to dress up beta cells with the same sugar molecule, enabling the immune system to tolerate the cells.

Virginia Shapiro, Ph.D.

"Our findings show that it's possible to engineer beta cells that do not prompt an immune response," says immunology researcher Virginia Shapiro, Ph.D., principal investigator of the study, published in the Journal of Clinical Investigation.

A few years ago, Dr. Shapiro's team demonstrated that an enzyme, known as ST8Sia6, that increases sialic acid on the surface of tumor cells helps tumor cells appear as though they are not foreign entities to be targeted by the immune system.  

"The expression of this enzyme basically ‘sugar coats' cancer cells and can help protect an abnormal cell from a normal immune response. We wondered if the same enzyme might also protect a normal cell from an abnormal immune response," Dr. Shapiro says. The team first established proof of concept in an artificially-induced model of diabetes.

In the current study, the team looked at preclinical models that are known for the spontaneous development of autoimmune (type 1) diabetes, most closely approximating the process that occurs in patients. Researchers engineered beta cells in the models to produce the ST8Sia6 enzyme.

In the preclinical models, the team found that the engineered cells were 90% effective in preventing the development of type 1 diabetes. The beta cells that are typically destroyed by the immune system in type 1 diabetes were preserved.

Justin Choe

Importantly, the researchers also found the immune response to the engineered cells appears to be highly specific, says M.D.-Ph.D. student Justin Choe, first author of the publication. Choe conducted the study in the Ph.D. component of his dual degree at Mayo Clinic Graduate School of Biomedical Sciences and Mayo Clinic Alix School of Medicine.

"Though the beta cells were spared, the immune system remained intact," Choe says. The researchers were able to see active B- and T-cells and evidence of an autoimmune response against another disease process. "We found that the enzyme specifically generated tolerance against autoimmune rejection of the beta cell, providing local and quite specific protection against type 1 diabetes."

No cure currently exists for type 1 diabetes, and treatment involves using synthetic insulin to regulate blood sugar, or, for some people, undergoing a transplant of pancreatic islet cells, which include the much-needed beta cells. Because transplantation involves immunosuppression of the entire immune system, Dr. Shapiro aims to explore using the engineered beta cells in transplantable islet cells with the goal of ultimately improving therapy for patients.

"A goal would be to provide transplantable cells without the need for immunosuppression," says Dr. Shapiro. "Though we're still in the early stages, this study may be one step toward improving care."

The research was funded by grants from the National Institutes of Health.

Please see the study for the full list of authors.

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

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Progress in gene therapy offers hope for long-term knee pain relief https://newsnetwork.mayoclinic.org/discussion/progress-in-gene-therapy-offers-hope-for-long-term-knee-pain-relief/ Mon, 28 Jul 2025 14:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=404948 Mayo Clinic researchers aim to engineer knees that are more resistant to arthritis.

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Christopher Evans, Ph.D, Professor of Physical Medicine and Rehabilitation (PMR), and Consultant-Research in PMR.
Christopher Evans, Ph.D.

For nearly three decades, Mayo Clinic researcher Christopher Evans, Ph.D., has pushed to expand gene therapy beyond its original scope of fixing rare, single-gene defects. That has meant systematically advancing the field through laboratory experiments, pre-clinical studies and clinical trials.

Several gene therapies have already received approval from the U.S. Food and Drug Administration (FDA), and experts predict that 40 to 60 more could be approved over the next decade for a range of conditions. Dr. Evans hopes a gene therapy for osteoarthritis — a form of arthritis affecting more than 32.5 million U.S. adults — will be one of them.

Recently, Dr. Evans and a team of 18 researchers and clinicians reported the results of a first-in-human, phase 1 clinical trial of a novel gene therapy for osteoarthritis. The findings, published in Science Translational Advances, demonstrated that the therapy is safe, achieved sustained expression of a therapeutic gene inside the joint and offered early evidence of clinical benefit.

"This could revolutionize the treatment of osteoarthritis," says Dr. Evans, who directs the Musculoskeletal Gene Therapy Research lab at Mayo Clinic.

In osteoarthritis, the cartilage that cushions the ends of bones — and sometimes the underlying bone itself — degenerates over time. It is a leading cause of disability, and notoriously difficult to treat. "Any medications you inject into the affected joint will seep right back out in a few hours," says Dr. Evans. "As far as I know, gene therapy is the only reasonable way to overcome this pharmacologic barrier, and it's a huge barrier." By genetically modifying cells in the joint to produce their own pharmacy of anti-inflammatory molecules, Evans aims to engineer knees that are more resistant to arthritis.

The Evans laboratory found that a molecule called interleukin-1 (IL-1) plays an important role in fueling inflammation, pain and cartilage loss in osteoarthritis. As luck would have it, the molecule had a natural inhibitor, aptly named the IL-1 receptor antagonist (IL-1Ra), that could form the basis of the first gene therapy for the disease. In 2000, Dr. Evans and his team packaged the IL-1Ra gene into a harmless virus called AAV, which they tested in cells and then pre-clinical models. The results were encouraging.

In pre-clinical testing, his collaborators at the University of Florida demonstrated that the gene therapy successfully infiltrated the cells that make up the synovial lining of the joint as well as the neighboring cartilage. The therapy protected the cartilage from breakdown. In 2015, the team got investigational new drug approval to start human testing. But regulatory hurdles and manufacturing challenges kept them from injecting their first patient for another four years. Mayo Clinic has since established a new process for accelerating clinical trial activation that could help researchers launch studies more quickly.

In the recent study, Dr. Evans and his team gave the experimental gene therapy to nine patients with osteoarthritis, delivering it directly into the knee joint. They found that the levels of the anti-inflammatory IL-1Ra increased and remained elevated in the joint for at least a year. Participants also reported reduced pain and improved joint function, with no serious safety issues. Dr. Evans says the findings suggest the treatment is safe and may offer long-lasting relief from osteoarthritis symptoms. "This study provides a highly promising, novel way to attack the disease," he says.

Dr. Evans has co-founded an arthritis gene therapy company called Genascence to drive the project forward. The company just completed a larger phase Ib study and is in discussions with the FDA about launching a pivotal phase IIb/III clinical trial to evaluate the therapy's effectiveness, the next step before FDA approval for the therapy.

Review the study for a complete list of authors, disclosures and funding. 

Additional resources:

 

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Mayo Clinic researchers link CAR-T cell aging to cancer relapse  https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-link-car-t-cell-aging-to-cancer-relapse/ Mon, 14 Jul 2025 10:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=404713 ROCHESTER, Minn. — Mayo Clinic researchers have discovered a key reason some cancer patients relapse after receiving chimeric antigen receptor T-cell therapy, or CAR-T cell therapy. Over time, the engineered immune cells age and lose their ability to fight cancer.   Published in Molecular Cancer, the study identifies this aging process, known as senescence, as […]

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ROCHESTER, Minn. — Mayo Clinic researchers have discovered a key reason some cancer patients relapse after receiving chimeric antigen receptor T-cell therapy, or CAR-T cell therapy. Over time, the engineered immune cells age and lose their ability to fight cancer.  

Published in Molecular Cancer, the study identifies this aging process, known as senescence, as a previously unrecognized mechanism of CAR-T failure.   

The researchers also showed that senescence is influenced by how CAR-T cells are engineered. Certain intracellular features — such as how the cell recognizes cancer and how strongly it activates — can overwork the cells. The researchers found that if the activation signal is too intense or prolonged, it can push CAR-T cells into premature aging.  

The discovery may guide the development of next-generation CAR-T therapies that last longer and are more effective across a broader range of cancers.  

Saad Kenderian, MB, ChB, Hematology consultant, and Chimeric Antigen Receptor (CAR) T Cell Engineering Laboratory lead, poses in the CAR T Cell Engineering Laboratory.

"This is one of the most clinically relevant discoveries we've made because it doesn't just explain the cause of relapse, it gives us a biological target to possibly prevent it," says Saad Kenderian, M.B., Ch.B., a principal investigator and hematologist at Mayo Clinic.  

CAR-T therapy reprograms a patient's own immune cells to recognize and destroy cancer. It has led to long-term remission for patients, including some with aggressive or treatment-resistant diseases. But many patients eventually relapse, and the causes have remained poorly understood. 

Modeling CAR-T cell stress over time 

To investigate why CAR-T therapy can fail, the Mayo team developed a novel lab model that simulates long-term biological stress, offering a clearer view of how the engineered cells behave after infusion. Over time, some CAR-T cells lost their ability to multiply and attack cancer. Specifically, they showed hallmark signs of senescence, including distinct genetic changes.  

The researchers found that senescence occurred more often in CAR-T cells built with a signaling feature, known as 4-1BB, which affects how the cells respond to cancer. In comparison, cells designed with an alternative domain, called CD28, were less affected by aging. These cells activate more quickly and persist for a shorter time, reducing the cumulative stress that drives senescence.

The researchers confirmed the results in multiple laboratory models and validated them in patient samples.

Engineering CAR-T cells for longevity 

That discovery was driven in part by the work of Ismail Can, Ph.D., who helped lead the molecular analysis behind the finding. 

Ismail Can, Ph.D.

"Efforts to make CAR-T cell therapy more durable will likely fail without fully understanding the reasons behind CAR-T cell failure. This study represents a significant step toward understanding why CAR-T cells fail," says Dr. Can, first author of the study and a senior research fellow at Mayo Clinic’s T Cell Engineering Laboratory. "By identifying the early molecular triggers of senescence, we can begin to refine CAR-T design to potentially improve long-term function and reduce relapse." 

The findings highlight a new direction for CAR-T research, with potential implications not only for blood cancers but also for expanding cell therapy into solid tumors.  

The study builds on Dr. Kenderian's broader efforts to identify resistance mechanisms and design more durable and personalized immunotherapies.   

This work was supported in part by Mayo Clinic Comprehensive Cancer Center, the Eagles 5th District Cancer Telethon Funds for Cancer Research, the State of Minnesota, and benefactors Georgia and Michael Michelson. For a complete list of authors, disclosures and funding information, review the study.    

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About Mayo Clinic 
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news. 

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How a Mayo Clinic neurologist used AI to help restore a patient’s health https://newsnetwork.mayoclinic.org/discussion/how-mayo-clinics-ai-helped-a-neurologist-give-a-patient-his-life-back/ Mon, 30 Jun 2025 10:30:00 +0000 https://newsnetwork.mayoclinic.org/?p=403848 Just one day after undergoing brain shunt surgery at Mayo Clinic, 75-year-old Minoo Press put his wheelchair aside and walked out of the hospital on his own. For the first time in two years, his mind was clear. His balance had returned. He was no longer losing control of his bladder.  The significant turnaround followed […]

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Minoo Press (right) and his wife, Zarin Press. Photo courtesy of Minoo Press

Just one day after undergoing brain shunt surgery at Mayo Clinic, 75-year-old Minoo Press put his wheelchair aside and walked out of the hospital on his own. For the first time in two years, his mind was clear. His balance had returned. He was no longer losing control of his bladder. 

The significant turnaround followed two years of steady cognitive and physical decline. A retired engineer known for his sharp mind and independence, Press gradually withdrew from daily life. Even simple routines became impossible. 

He visited leading medical centers across the country, undergoing spinal taps, surgical procedures and advanced imaging to evaluate for conditions ranging from Alzheimer's disease to Parkinson's. 

Some clinicians at those institutions also considered normal pressure hydrocephalus, a condition in which excess fluid builds up in the brain. But because Mr. Press' symptoms overlapped with signs of neurodegenerative disease, the doctors could not confirm the diagnosis or recommend surgery. They told him there was nothing more they could do. 

From rapid diagnosis to life-changing care

After an exhaustive search for answers, Press' family brought him to Mayo Clinic where he was evaluated by Dr. David Jones, a neurologist and director of Mayo Clinic's Neurology Artificial Intelligence Program.   

Minoo Press (center) is pictured with his sons, Carl and Cyrus, and his wife, Zarin, before undergoing a stent procedure at Mayo Clinic. At the time, he was unable to walk and used a wheelchair. Photo courtesy of Minoo Press

Dr. Jones used an innovative artificial intelligence tool developed by his team, called StateViewer. The tool works with a widely available brain scan known as fluorodeoxyglucose positron emission tomography, or FDG-PET, comparing a patient's brain activity to thousands of confirmed dementia cases. It highlights patterns linked to nine types of the disease — from Alzheimer's and frontotemporal dementia to less common forms with overlapping symptoms. 

In a recent study published in Neurology, the tool identified the correct dementia type in 88% of cases and helped clinicians interpret scans up to three times more accurately and twice as fast as standard methods.  

In Press' case, the tool helped Dr. Jones rule out Alzheimer's and other types of dementia. That was the turning point.  

With neurodegenerative disease ruled out, Dr. Jones diagnosed Press with normal pressure hydrocephalus and confirmed that he was a candidate for a shunt procedure to relieve the pressure on his brain and potentially reverse the symptoms.  

A last-minute surgical cancellation made it possible for Press to have the procedure that same week.

Within three days at Mayo Clinic, he had a clear diagnosis, a treatment plan and underwent brain surgery to place a shunt that would drain excess fluid from his brain. The procedure was performed by Dr. Ben Elder, a neurosurgeon and clinician-scientist.  

Press, who traveled from Chicago, noticed immediate improvements. His thinking was sharper, his steps steadier and he felt like himself again. 

A clear mind, steady steps and hope

Dr. Jones says Press' case highlights the promise of combining AI with clinical care to accelerate diagnosis, scale expert clinical knowledge and help guide treatment planning.  

"When you're looking at overlapping symptoms, it's easy to miss the underlying cause," Dr. Jones says. "StateViewer gave us the clarity we needed to make an informed diagnosis and take action." 

Press continues physical therapy and says he's improving every day. He hopes his story can help others who are navigating the same often misdiagnosed and debilitating condition. 

"I can enjoy time with my family again and I can go out with my friends. I can even do my own taxes. These are the moments I thought I had lost forever," Mr. Press says. "Mayo Clinic gave me my life back." 

Related article:

Mayo Clinic's AI tool identifies 9 dementia types, including Alzheimer's, with one scan

Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis. Read more.

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Mayo Clinic’s AI tool identifies 9 dementia types, including Alzheimer’s, with one scan  https://newsnetwork.mayoclinic.org/discussion/mayo-clinics-ai-tool-identifies-9-dementia-types-including-alzheimers-with-one-scan/ Fri, 27 Jun 2025 20:10:00 +0000 https://newsnetwork.mayoclinic.org/?p=403846 ROCHESTER, Minn. — Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis.  The tool, StateViewer, helped researchers identify the dementia type in 88% […]

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Dr. David Jones reviews brain scans on a computer at Mayo Clinic.

ROCHESTER, Minn. — Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis. 

The tool, StateViewer, helped researchers identify the dementia type in 88% of cases, according to research published online on June 27, 2025, in Neurology, the medical journal of the American Academy of Neurology. It also enabled clinicians to interpret brain scans nearly twice as fast and with up to three times greater accuracy than standard workflows. Researchers trained and tested the AI on more than 3,600 scans, including images from patients with dementia and people without cognitive impairment. 

This innovation addresses a core challenge in dementia care: identifying the disease early and precisely, even when multiple conditions are present. As new treatments emerge, timely diagnosis helps match patients with the most appropriate care when it can have the greatest impact. The tool could bring advanced diagnostic support to clinics that lack neurology expertise. 

The rising toll of dementia 

Dementia affects more than 55 million people worldwide, with nearly 10 million new cases each year. Alzheimer's disease, the most common form, is now the fifth-leading cause of death globally. Diagnosing dementia typically requires cognitive tests, blood draws, imaging, clinical interviews and specialist referrals. Even with extensive testing, distinguishing conditions such as Alzheimer's, Lewy body dementia and frontotemporal dementia remains challenging, including for highly experienced specialists. 

StateViewer was developed under the direction of David Jones, M.D., a Mayo Clinic neurologist and director of the Mayo Clinic Neurology Artificial Intelligence Program.  

"Every patient who walks into my clinic carries a unique story shaped by the brain's complexity," Dr. Jones says. "That complexity drew me to neurology and continues to drive my commitment to clearer answers. StateViewer reflects that commitment — a step toward earlier understanding, more precise treatment and, one day, changing the course of these diseases." 

To bring that vision to life, Dr. Jones worked alongside Leland Barnard, Ph.D., a data scientist who leads the AI engineering behind StateViewer. 

"As we were designing StateViewer, we never lost sight of the fact that behind every data point and brain scan was a person facing a difficult diagnosis and urgent questions," Dr. Barnard says. "Seeing how this tool could assist physicians with real-time, precise insights and guidance highlights the potential of machine learning for clinical medicine." 

Turning brain patterns into clinical insight 

The tool analyzes a fluorodeoxyglucose positron emission tomography (FDG-PET) scan, which shows how the brain uses glucose for energy. It then compares the scan to a large database of scans from people with confirmed dementia diagnoses and identifies patterns that match specific types, or combinations, of dementia. 

Alzheimer's typically affects memory and processing regions, Lewy body dementia involves areas tied to attention and movement, and frontotemporal dementia alters regions responsible for language and behavior. StateViewer displays these patterns through color-coded brain maps that highlight key areas of brain activity, giving all clinicians, even those without neurology training, a visual explanation of what the AI sees and how it supports the diagnosis. 

Mayo Clinic researchers plan to expand the tool's use and will continue evaluating its performance in a variety of clinical settings. 

For a complete list of authors, disclosures and funding, review the study.

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About Mayo Clinic 
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news. 

Media contact:  

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Mayo Clinic researchers capture first signs of ovarian cancer risk https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-capture-first-signs-of-ovarian-cancer-risk/ Tue, 24 Jun 2025 20:14:33 +0000 https://newsnetwork.mayoclinic.org/?p=403806 A Mayo discovery could lead to future strategies for detecting the disease in its earliest, precancerous stages.

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Illustration of female reproductive system. Credit: Shutterstock
Shutterstock

ROCHESTER, Minn. — Little is known about what causes ovarian cancer, and there is no way to detect it early yet. About 75% of the time when someone is diagnosed with ovarian cancer, it has already progressed to stage 3 or stage 4, which means it has spread to other parts of the body. Mayo Clinic physicians, researchers and patients had been working together to learn more about this devastating disease when a 22-year-old patient, who has two rare genetic conditions that dramatically elevate lifetime cancer risk, came to Mayo Clinic.

The patient carries a hereditary BRCA2 mutation, which is one of the genes that causes hereditary breast and ovarian cancer (HBOC) syndrome, and a hereditary TP53 mutation, which causes Li-Fraumeni syndrome.

At Mayo Clinic, she was diagnosed with breast cancer. Imaging also revealed she had an ovarian cyst. Although the cyst was benign, she chose to have a mastectomy and hysterectomy with removal of her ovaries and fallopian tubes, a procedure called a bilateral salpingo-oophorectomy, because of her elevated cancer risk. Upon further examination, her Mayo Clinic physician and research team detected early, hidden changes in the cells lining her fallopian tubes, revealing signals that may point to the first signs of ovarian cancer before symptoms or visible lesions appear.

"Our team glimpsed a rare and revealing phenomenon in epithelial biology, uncovered through the cells of a young patient living with profoundly high-risk genetic conditions. Using cutting-edge, single-cell technologies, we traced how her epithelial cells were developmentally altered in ways that signaled a high risk for lethal ovarian cancer. These insights could pave the way for future strategies to detect the disease in its earliest, precancerous stages when prevention is still possible," says Nagarajan Kannan, Ph.D., director of the Stem Cell and Cancer Biology Laboratory at Mayo Clinic and co-lead author of this study published in JCO Precision Oncology.

Jamie Bakkum-Gamez, M.D.

Jamie Bakkum-Gamez, M.D., the patient's gynecologic oncology surgeon at Mayo Clinic, says she is determined to find a way to detect ovarian cancer earlier to help save more patients' lives.

"We know that the most aggressive and common form of ovarian cancer often actually starts in the fallopian tube. However, why the fallopian tube and how it starts are not yet known. Knowing how ovarian cancer begins and forms could not only lead to the development of earlier screening tools, but also more personalized risk-reduction strategies and improved guidance around the timing of preventive surgeries and fertility planning," says Dr. Bakkum-Gamez, who is a co-lead author of this study.

Watch: Dr. Jamie Bakkum-Gamez on revealing hidden signs of ovarian cancer risk

Journalists: Broadcast-quality sound bites are available in the downloads. Please courtesy: "Mayo Clinic News Network." Name super/CG: Jamie Bakkum-Gamez, M.D./ Gynecologic Oncology/Mayo Clinic

Together, Dr. Kannan and Dr. Bakkum-Gamez have established a living fallopian tube biobank at Mayo Clinic. The cells and tissues donated by patients help scientists study how ovarian cancer begins — cell by cell — directly in human tissue. From the patient specimens, organoids, or small versions of the fallopian tubes, can be grown. The biobank includes organoids from patients with average-to-high ovarian cancer risk and specializes in inherited cancer mutations like the ones associated with HBOC syndrome and Li-Fraumeni syndrome.

"The precise cellular origin of ovarian cancer remains one of the greatest unanswered questions in cancer prevention — limiting our ability to intervene early and save lives. This work lays the foundation for a new era of early detection and precision prevention for ovarian cancer, especially for patients with inherited risk such as BRCA mutations."

Nagarajan Kannan, Ph.D.
Nagarajan Kannan, Ph.D.
Nagarajan Kannan, Ph.D.

Ovarian cancer precursor

A healthy fallopian tube consists of two main types of epithelial cells: multiciliated cells that have hundreds of cilia, or hairlike appendages, that help move the fertilized egg through the fallopian tube and secretory cells that secrete fluids to nourish and protect the developing embryo. But in the fallopian tube cells collected from the patient with HBOC syndrome and Li-Fraumeni syndrome, the scientists saw something they had never seen before. Instead of the two types of epithelial cells, the secretory cells vastly outnumbered the multiciliated cells across the fallopian tube. They also found that secretory cells were driving chronic inflammation — an established contributor to cancer development.

Megan Ritting

"Through single-cell RNA sequencing, we could see the disruptions in the development of cells lining the fallopian tube lumen — findings that could help reshape how we understand and ultimately prevent ovarian cancer," says Megan Ritting, co-lead author and Mayo Clinic Graduate School of Biomedical Sciences doctoral candidate. Ritting spearheaded the use of cutting-edge genomic technology in this study.

Furthermore, oral contraceptives containing progestins, or synthetic analogs of the hormone progesterone that is produced by the ovaries, can be used to reduce ovarian cancer risk by up to 50%. However, Ritting and the research team were surprised to see that this patient's fallopian tube cells did not have any progesterone receptor proteins, which suggests oral contraceptives may not have been effective in reducing the patient's risk for ovarian cancer.

"With the generous partnership of patients who allow their cells to be studied using advanced technologies, including organoid models, we are making critical progress in understanding how these cancers develop. This work represents an important step toward identifying opportunities to develop preventive strategies, treatments and approaches that could reduce the risk of fallopian tube and ovarian cancers," says Dr. Bakkum-Gamez.

The research is part of a larger effort at Mayo Clinic called the Precure initiative, focused on developing tools that empower clinicians to predict and intercept biological processes before they evolve into disease or progress into complex, hard-to-treat conditions. In the next steps of this research, using the living fallopian tube biobank, the scientists are investigating how and where earliest origins of ovarian cancer take root.

Review the study for a complete list of authors, disclosures and funding. 

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

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Mayo Clinic researchers develop first salivary gland regenerative biobank to combat chronic dry mouth https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-develop-first-salivary-gland-regenerative-biobank-to-combat-chronic-dry-mouth/ Wed, 21 May 2025 14:00:58 +0000 https://newsnetwork.mayoclinic.org/?p=402912 ROCHESTER, Minn. — Millions of people are affected by chronic dry mouth, or xerostomia, an agonizing side effect of damaged salivary glands. While chemotherapy and radiation treatment for head and neck cancer are the most common causes of this, aging, certain medications and other factors, including diabetes, stroke, Alzheimer's disease and HIV/AIDS, can also cause chronic dry mouth. Currently, […]

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ROCHESTER, Minn. — Millions of people are affected by chronic dry mouth, or xerostomia, an agonizing side effect of damaged salivary glands. While chemotherapy and radiation treatment for head and neck cancer are the most common causes of this, aging, certain medications and other factors, including diabetes, strokeAlzheimer's disease and HIV/AIDS, can also cause chronic dry mouth. Currently, there is no cure for it.

Mayo Clinic researchers have established the world's first biobank of human salivary gland tissue-organoids that opens the door to research to find a cure.

Nagarajan Kannan, Ph.D.

"This unique biobank resource overcomes a major barrier we've faced in the field, namely: limited access to standardized salivary specimens suited for salivary gland regeneration research. This collection provides a foundation for regenerative therapy development, especially for radiation-induced chronic dry mouth," says Nagarajan Kannan, Ph.D., lead author of the study published in NPJ Regenerative Medicine. Dr. Kannan is also the director of the Mayo Clinic Stem Cell and Cancer Biology Laboratory.

Nearly 70% of patients with head and neck cancer who are undergoing radiation therapy experience permanent damage to their salivary glands. People with this condition experience diminished quality of life from a constant feeling like cotton is lining their mouths. Besides being uncomfortable, chronic dry mouth can lead to difficulties with chewing, tasting, speaking and swallowing. It also can cause tooth decay.

"Chronic dry mouth can extend long after radiation treatments are complete. It's among the top concerns I hear from patients with head and neck cancer. Unfortunately, there aren't many therapeutics available commercially for these patients," says co-author Jeffrey Janus, M.D., an ear, nose and throat specialist at Mayo Clinic in Florida.

One promising avenue of research is the cultivation of rare regenerative cells to greater numbers that can help people someday heal and grow new, healthy salivary gland cells. The biobank consists of specimens collected from 208 donors. From this repository, researchers have already found biomarkers for mature, saliva-producing cells, and with the help of a high-resolution protein map, they have identified the potential tissue origin of rare, self-renewing salivary cells.

The research team also developed a radiation injury model, which paired with the biobank, provides an integrated platform to discover new, personalized regenerative biotherapeutics.

This is a collaboration between Mayo Clinic Center for Regenerative Biotherapeutics, Department of Laboratory Medicine and Pathology and Department of Otolaryngology.

Review the study for a complete list of authors, disclosures and funding. 

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

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Advancing the study of Pick’s disease, rare form of early-onset dementia https://newsnetwork.mayoclinic.org/discussion/global-consortium-to-study-picks-disease-rare-form-of-early-onset-dementia/ Wed, 07 May 2025 14:11:00 +0000 https://newsnetwork.mayoclinic.org/?p=386291 JACKSONVILLE, Fla. — Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes language impairment. In patients with the disease, tau proteins build up and form abnormal clumps called Pick bodies, which […]

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JACKSONVILLE, Fla. — Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes language impairment. In patients with the disease, tau proteins build up and form abnormal clumps called Pick bodies, which restrict nutrients to the brain and cause neurodegeneration. The only way to diagnose the disease is by looking at brain tissue under a microscope after a person dies.

In a new study, Mayo Clinic researchers have identified gene expression changes in the brains of people with Pick's disease. Since Pick's disease is a rare neurodegenerative disorder that cannot be diagnosed during life, their findings offer valuable insights that may help guide the development of biomarkers and therapeutic strategies.

Researchers at Mayo Clinic in Florida, University College London in England and collaborators worldwide have established the Pick's Disease International Consortium to study a specific MAPT gene variation known as MAPT H2 that makes the tau protein and acts as a driver of disease. They investigated a connection between the gene and disease risk, age at onset, and duration of Pick's disease. Their findings are reported in The Lancet Neurology.

Mayo Clinic researchers identified the first MAPT gene mutations for a behavioral form of dementia in 1998, and other genetic changes associated with related dementias in 2001, which paved the way to understanding the mechanisms of tau-related disease. This new study confirms a tau genetic factor linked specifically to Pick's disease and opens up new avenues of therapeutic design.

Portrait of Dr. Owen Ross
Owen Ross, Ph.D.

"Our research could have profound implications for the development of therapies for Pick's disease and other related neurodegenerative diseases, including Alzheimer's disease and progressive supranuclear palsy," says Owen Ross, Ph.D., a Mayo Clinic neuroscientist and senior author of the paper. The consortium hosts a database of clinical, pathological and demographic information about patients with the disease who donated their brain tissue for science.

To conduct the study, researchers investigated brain samples of 338 patients confirmed to have Pick's disease to compare with blood samples from 1,312 neurologically healthy individuals. Patients confirmed to have the disease came from 35 brain banks and hospitals in North America, Europe and Australia between 2020 and 2023. The Mayo Clinic Brain Bank was among the sites in the study that provided the largest collection of samples.

Analyzing DNA from the blood samples and brain tissue, the research team recorded baseline information on study participants, including age at disease onset, age at death for those with Pick's disease, and sex and age at blood collection for the control group. Disease duration was calculated by the difference between age at Pick's disease onset and age at death. In addition, the researchers looked at clinical characteristics such as clinical diagnosis, impairment in behavior and language.

"We found that the MAPT H2 genetic variant is associated with an increased risk of Pick's disease in people of European descent," says Dr. Ross. "We were only able to determine that because of the global consortium, which greatly increased the sample size of pathology cases to study with Pick's disease."

The team's next steps are to expand the consortium to the Middle East, Asia, Africa and Latin America, further resolve the genetic architecture of the disease, and assess this specific genetic variant as a biomarker or test for clinical diagnosis of Pick's disease. There is currently no clinical test or diagnosis available for Pick's disease. For the first time, the creation of the consortium may allow for the development of a clinical test.

Funding for this research at Mayo Clinic was supported in part by the National Institutes of Health, the National Institute of Neurological Disorders and Stroke, the State of Florida Ed and Ethel Moore Alzheimer’s Disease Research Program, and Mayo Clinic Alzheimer's Disease Research Center. For a full list of authors, collaborating institutions and disclosures, see the paper.

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About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to innovation in clinical practice, education and research, and providing compassion, expertise and answers to everyone who needs healing. Visit the Mayo Clinic News Network for additional Mayo Clinic news.

Media contact: 

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New awards aim to make Minnesota a leader in regenerative medicine https://newsnetwork.mayoclinic.org/discussion/new-awards-aim-to-make-minnesota-a-leader-in-regenerative-medicine/ Thu, 01 May 2025 15:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=402462 Regenerative Medicine Minnesota has awarded funding to three projects aimed at strengthening Minnesota's capabilities for developing and delivering therapies that replace, restore, rejuvenate or regenerate damaged cells, tissues or organs. Co-led by the University of Minnesota and the Mayo Clinic, Regenerative Medicine Minnesota brings together the state's leading research institutions to accelerate breakthroughs and bring […]

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Regenerative Medicine Minnesota has awarded funding to three projects aimed at strengthening Minnesota's capabilities for developing and delivering therapies that replace, restore, rejuvenate or regenerate damaged cells, tissues or organs.

Co-led by the University of Minnesota and the Mayo Clinic, Regenerative Medicine Minnesota brings together the state's leading research institutions to accelerate breakthroughs and bring new therapies to patients across the state.

The funded projects were selected for their potential to overcome challenges that slow the development and delivery of new therapies. Each project aims to build sustainable, widely accessible resources to help move regenerative treatments from the lab to patients more quickly.

The projects are:

Derivation of Induced Pluripotent (Adult) Stem Cell Lines in Minnesota with Superior HLA Compatibility for Manufacturing Clinical Cell Therapy Products

James Dutton, Ph.D., University of Minnesota

This initiative tackles a key challenge in regenerative medicine: access to clinical-grade starting materials. The project will generate high-quality, regulatory-compliant induced pluripotent (adult) stem cell (iPSC) lines with less risk of the immune system rejecting the cells. These lines will be made available to researchers across Minnesota, enabling the development of versatile, cost-effective cell therapies that can benefit a broad range of patients. By building a local supply of standardized starting materials, the project provides a long-term advantage to Minnesota's research community.


The Genome Engineering for Regenerative Medicine (GERM) Consortium

David Largaespada, Ph.D., University of Minnesota

Addressing the critical need for quality and safety standards in gene-edited therapies, this new consortium will bring together academic and industry experts to establish best practices for gene delivery, editing and evaluation. The GERM Consortium will provide essential guidance and resources to ensure that genetically engineered therapies are developed with precision and safety. Through this collaborative effort, Minnesota will become a hub for innovation and regulatory compliance in cell and gene therapy.

Minnesota BRIDGE — Boosting Regenerative Medicine Innovation through Development, Growth, and Engagement

Melanie Graham, Ph.D., University of Minnesota

This project focuses on a major translational bottleneck: the lack of robust preclinical models. Minnesota BRIDGE will create a state-of-the-art translational research infrastructure that enables more predictive preclinical testing of regenerative therapies. By establishing this capability, Minnesota will become one of the few places in the nation equipped to accelerate therapy development with cutting-edge preclinical models — streamlining the path to clinical trials and patient care.

Together, these projects advance Regenerative Medicine Minnesota's goal of bringing new therapies to patients in Minnesota and beyond while establishing the state as a leader in regenerative medicine.

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About Regenerative Medicine Minnesota

Regenerative Medicine Minnesota was established in 2014 by the Minnesota State Legislature to improve the health of Minnesotans by advancing regenerative medicine. This state-wide initiative opens new economic opportunities through commercialization of technologies and leverages the strengths of Minnesota institutions to position the state at the forefront of regenerative medicine. The initiative distributes approximately $4 million in funding statewide every year for research, commercialization, and clinical translation initiatives that improve or increase access to scientifically proven regenerative medicine throughout the state. Learn more at www.regenmedmn.org.

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