A new era of medicine is emerging at Mayo Clinic — one that finds disease before symptoms appear 

ROCHESTER, Minn. — When Mayo Clinic researchers sequenced the genomes of 484 seemingly healthy adults, they found that about 13% carried a serious, previously unrecognized genomic risk — conditions those patients did not know about and that standard care would likely miss.

Nearly all participants, 98.6%, had at least one genetic finding, and for most, the results called for monitoring. The study, published in Genetics in Medicine, also takes a closer look at what it takes to turn those findings into the proper follow-up care.

Among the 13%, the actionable findings pointed to serious risks, including hereditary breast and ovarian cancer; Lynch syndrome, linked to colorectal cancer; cardiomyopathy; long QT syndrome; and amyloidosis.

"These are people traditional testing based on symptoms or family history would not identify," says Dr. Konstantinos Lazaridis, the Carlson and Nelson Endowed Executive Director of the Center for Individualized Medicine and senior author of the study. "This study helps define the blueprint for integrating genomic insight into care at scale — turning information into decisions that can change the trajectory of disease."

From discovery to care

Identifying the risk, it turns out, is the easiest part. Acting on it is far more complex. Nearly every case required clinical interpretation, documentation and communication. This work fell largely to genetic counselors, who reviewed results, prepared individualized summaries and helped guide next steps for patients and care teams.

"Genetic counselors are often the first people to share this kind of information with patients," says Jessa Bidwell, a certified research genetic counselor and first author of the study. "There can be surprise, anxiety, devastation, and at times relief at finally having an explanation. Our role is to meet people in that moment and help them understand what their health risks might be, based on the genetic finding, and their personal and family history."

Most participants with actionable findings followed through, completing referrals and connecting with primary care specialists. Yet fewer than half had a documented conversation with a primary care professional after receiving results — underscoring how difficult it remains to integrate genomic findings into routine care.

The study positions predictive genomic screening as both a clinical opportunity and a systems challenge. The science exists. Researchers and clinicians are still building the infrastructure to act on it consistently.

At Mayo Clinic, that infrastructure is beginning to take shape through an initiative called Precure. Genomic screening is one part of that initiative, which aims to detect disease earlier by combining genetic data with other biological signals.

"Precure is one example of a moonshot for human health at Mayo Clinic," says Dr. Lazaridis, who leads the initiative. "It reflects Mayo Clinic's commitment to move medicine beyond treatment and toward lasting wellness." - Dr. Lazaridis

Predicting disease before it begins 

Most diseases don't arrive without warning. They begin with small shifts in genes, molecules, proteins and immune signals that develop over time, often years before symptoms appear.

Precure is Mayo Clinic's enterprise-wide effort to detect those early signals and intervene sooner. Powered by advanced computing and artificial intelligence (AI), the initiative currently focuses on five organ systems — the brain, heart, kidneys, liver and lungs — studying conditions such as Alzheimer's disease, heart failure and chronic liver disease to better understand how they emerge and progress.

The work draws on expertise from across Mayo Clinic and is supported by Mayo Clinic Platform, which brings together large-scale patient data and advanced computing to enable scientists to study disease across populations.

"Precure is one example of a moonshot for human health at Mayo Clinic," says Dr. Lazaridis, who leads the initiative. "It reflects Mayo Clinic's commitment to move medicine beyond treatment and toward lasting wellness."

Precure is part of Mayo Clinic's Bold. Forward. strategy to Cure, Connect and Transform healthcare. The genomic screening study is an early demonstration of what that looks like in practice: science that doesn't wait for disease to announce itself, and a system already being built to act on what it finds.

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.

Media contact:

• Julie Ferris-Tillman, Ph.D., Mayo Clinic Communications, newsbureau@mayo.edu

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ROCHESTER, Minn. — A Mayo Clinic-developed artificial intelligence (AI) model can help specialists detect pancreatic cancer on routine abdominal CT scans up to three years before clinical diagnosis. It identifies subtle signs of disease before tumors are visible, when curative treatment may still be possible. The findings, published in Gut, mark a milestone in Mayo Clinic's multiyear research effort to enable earlier detection of one of the deadliest cancers.

The study validates this next-generation AI model using data and workflows that mirror clinical practice, including CT scans from multiple institutions, imaging systems and protocols.

Researchers used the AI model to analyze nearly 2,000 CT scans, including scans from patients later diagnosed with pancreatic cancer — all originally interpreted as normal. The system, called the Radiomics-based Early Detection Model (REDMOD), identified 73% of those prediagnostic cancers at a median of about 16 months before diagnosis — nearly double the detection rate of specialists reviewing the same scans without AI assistance.

The advantage was even greater at earlier time points. In scans obtained more than two years before diagnosis, the AI identified nearly three times as many early cancers that would otherwise go undetected.

Pancreatic cancer remains one of the deadliest cancers because it rarely causes detectable signs in its earliest stages. More than 85% of patients receive a diagnosis after the disease has already spread, and five-year survival rates remain below 15%, according to the National Cancer Institute. Projections show it will become the second-leading cause of cancer-related death in the U.S. by 2030.

"The greatest barrier to saving lives from pancreatic cancer has been our inability to see the disease when it is still curable," says Ajit Goenka, M.D., the study's senior author, and a Mayo Clinic radiologist and nuclear medicine specialist. "This AI can now identify the signature of cancer from a normal-appearing pancreas, and it can do so reliably over time and across diverse clinical settings." 

REDMOD measures hundreds of quantitative imaging features that describe tissue texture and structure, capturing faint biological changes as cancer begins to develop. The model is designed to analyze CT scans already obtained for other reasons — particularly in high-risk patients, such as those with new-onset diabetes — and flag elevated risk before any visible mass appears. 

The model runs automatically without time-intensive manual preparation. The team validated the model across CT scans from multiple institutions, imaging systems and protocols, demonstrating consistent performance beyond a single dataset.

The model's predictions also remained stable over time. In patients with multiple scans, the AI produced consistent results months apart, supporting its use for longitudinal monitoring and early detection. 

"This AI can now identify the signature of cancer from a normal-appearing pancreas, and it can do so reliably over time and across diverse clinical settings."  - Dr. Ajit Goenka

Researchers are advancing this work into clinical testing through Artificial Intelligence for Pancreatic Cancer Early Detection, or AI-PACED. This prospective study evaluates how clinicians can integrate AI-guided detection into care for patients at elevated risk. The study combines AI analysis of routine imaging with longitudinal follow-up to assess performance, including early detection, false positives and clinical outcomes. 

This research is part of Mayo Clinic's Precure initiative, which aims to predict and prevent disease by identifying the earliest biological changes in the body before symptoms begin. It also reflects Mayo Clinic's Clinical Impact strategy, accelerating the translation of discovery into patient care. 

The study was supported by the National Institutes of Health, the Hoveida Family Foundation, the Mayo Clinic Comprehensive Cancer Center and the Champions for Hope Pancreas Cancer Research Program of the Funk-Zitiello Foundation. 

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.  

About Mayo Clinic Comprehensive Cancer Center  
Designated as a comprehensive cancer center by the National Cancer Institute, Mayo Clinic Comprehensive Cancer Center is defining the cancer center of the future, focused on delivering the world's most exceptional patient-centered cancer care for everyone. At Mayo Clinic Comprehensive Cancer Center, a culture of innovation and collaboration is driving research breakthroughs in cancer detection, prevention and treatment to change lives. 

Media contact:   

• Julie Ferris-Tillman, Ph.D., Mayo Clinic Communications, newsbureau@mayo.edu  

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Momentum is growing in the fight against amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two devastating neurological diseases now understood to be closely connected. At Mayo Clinic, researchers and clinicians are turning scientific breakthroughs into progress for patients and their families.

Watch: Dr. Bjorn Oskarsson explains work of ALS researchers

Journalists: Broadcast-quality soundbites are available for download at the end of this post. Please courtesy: "Mayo Clinic."

ALS, also known as motor neuron disease and Lou Gehrig's disease, affects nerves, leading to progressive weakness and loss of movement. FTD is a group of brain disorders that affect behavior, personality and language. Although these related conditions usually occur separately, they can occur together and pose significant challenges for patients and families.

While effective treatments remain limited, new approaches are emerging. Patients can receive supportive care to improve quality of life and extend survival, and recent advances include therapies for some genetic forms of ALS. These developments are making diagnostic testing increasingly important to identify potentially treatable causes.

Tools to diagnose ALS

Diagnosis of ALS typically includes a physical exam, medical history and electromyography (EMG), a specialized test of muscles and nerves that detects lower motor neuron degeneration. Mayo Clinic physicians are also using newer tools to improve detection.

"We now have an added blood test, neurofilament light, which is good at detecting ALS," says Bjorn Oskarsson, M.D., a neurologist and director of the ALS Clinic at Mayo Clinic in Florida. "The test measures a nerve protein that leaks into the blood and is significantly elevated in patients with this disease. Another test uses advanced imaging to detect a marker of upper motor neuron degeneration, allowing earlier diagnosis in some patients."

With ultra-high-resolution 7-Tesla MRI imaging, physicians and scientists can identify upper motor neuron degeneration in many people with ALS and help distinguish the disease from similar conditions. These tools, combined with genetic testing, help clinicians make more accurate diagnoses.

Research

Artificial intelligence shows promise in helping patients achieve greater independence. As ALS progresses, patients may lose the ability to speak. Voice-cloning technology recreates a person's voice from a previous recording, helping them continue communicating with loved ones through speaking devices.

This progress builds on a pivotal scientific discovery: In 2011, Mayo Clinic researchers helped discover that ALS and FTD can share a common underlying genetic cause, the C9orf72 mutation. This finding showed that the two conditions are part of a disease spectrum and transformed both research and clinical care. Neurogeneticist Rosa Rademakers, Ph.D., who was on the Mayo Clinic faculty from 2005 to 2019, received the 2026 Breakthrough Prize in Life Sciences for this discovery during her research at Mayo Clinic. She continues to collaborate with colleagues as a supplemental consultant in the Department of Neurosciences at Mayo Clinic.

Mayo Clinic researchers are developing new therapies that target the genetic and biological drivers of ALS and FTD. Clinical trials are underway that focus on treating the underlying disease mechanisms rather than symptoms alone.

Advances in genetic sequencing are providing new insights. Technologies that can read long stretches of DNA are allowing scientists to study the C9orf72 mutation in greater detail. Research led by Marka van Blitterswijk, M.D., Ph.D., a neuroscientist at Mayo Clinic in Florida, shows that variations in the length of this genetic repeat are linked to when symptoms begin, how quickly the disease progresses and the buildup of harmful proteins in the brain.

"It is a very exciting time to investigate ALS and FTD," says Dr. Van Blitterswijk. "New advances in genetic sequencing now enable us to look at the DNA and RNA at unprecedented resolution, creating tantalizing opportunities that will undoubtedly uncover novel causes, as well as much-needed biomarkers and therapeutic strategies for these debilitating diseases in the foreseeable future."

Researchers are also using advanced RNA analysis to better understand how genes function in diseased brain tissue. These findings could lead to earlier diagnosis and new treatments.

Additional research led by Wilfried Rossoll, Ph.D., a Mayo Clinic neuroscientist, is focused on proteins involved in disease progression. In ALS and FTD, a protein called TDP-43 forms clumps within brain cells. This pathology can disrupt essential functions, such as the cell's internal transport system, which can lead to cell damage or death. Mayo Clinic researchers have found that another protein, KPNB1, may help break apart these clumps and restore normal cell function.

Researchers are also working to identify additional genetic factors that influence ALS risk and progression. This work may improve understanding of neurodegenerative diseases and support the development of more precise clinical trials and targeted therapies.

A deeper understanding of ALS and FTD may lead to earlier intervention, more personalized care and improved outcomes for patients and families.

 Related:

• Mayo-clinic-researcher-awarded-breakthrough-prize-for-ALS-dementia-gene-discovery
• Florida dad receives first-in-world ALS treatment
• Mayo Clinic awarded federal grant to study experimental ALS drug
• Mayo researchers, collaborators affirm useful blood biomarker for group of brain disorders in new study

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JACKSONVILLE, Fla. — Rosa Rademakers, Ph.D., a neurogeneticist whose work at Mayo Clinic led to a landmark finding in neurodegenerative disease, has been awarded the 2026 Breakthrough Prize in Life Sciences for the discovery of the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which charted the path for new mechanistic studies of these diseases.

The Breakthrough Prize recognizes Dr. Rademakers' role in discovering the C9orf72 hexanucleotide repeat expansion, a genetic mutation that fundamentally reshaped understanding of FTD and ALS, also known as Lou Gehrig's disease, and is the most common inherited cause of both conditions.

Watch: Dr. Rosa Rademakers explains ALS-dementia gene research and discovery

Journalists: Broadcast-quality soundbites with Dr. Rosa Rademakers along with b-roll of research are available in the downloads at the end of the post. Please courtesy: "Mayo Clinic News Network.”

The discovery, published in 2011 alongside complementary work by a separate research team, led by Bryan Traynor, M.D., Ph.D., at the National Institute on Aging, National Institutes of Health, revealed for the first time that these two conditions — long studied as separate diseases — shared a common genetic origin.

FTD affects behavior, personality and language, while ALS causes progressive loss of muscle control. By establishing a genetic link between the two, the discovery transformed how scientists now study, diagnose and treat these conditions.

A mutation in the C9orf72 gene causes a segment of DNA to repeat excessively, disrupting normal cellular function and damaging nerve cells in the brain and spinal cord.

The discovery provided long-sought answers for families affected by inherited forms of ALS and FTD — enabling more accurate diagnosis, informing genetic counseling and accelerating global research efforts focused on targeted therapies.

"The Breakthrough Prize is a powerful affirmation that the work happening at Mayo Clinic is changing the trajectory of human health," says Vijay Shah, M.D., Kinney Executive Dean of Research at Mayo Clinic. "This global recognition underscores the importance of relentless curiosity, scientific rigor and a commitment to improving lives."

Today, genetic testing for the C9orf72 mutation is incorporated into the clinical evaluation for some patients and families, helping clinicians identify people at risk. At the same time, therapies now in clinical trials are designed to target the underlying biology uncovered by this discovery.

Dr. Rademakers made this discovery while leading a neurogenetics laboratory at Mayo Clinic in Florida. The work was made possible through access to the Mayo Clinic Brain Bank, which includes patient samples paired with detailed clinical and family histories; the Mayo Clinic Alzheimer's Disease Research Center; and additional patient samples collected across Mayo Clinic, including from individuals with FTD, ALS and other neurodegenerative conditions.

The research highlights Mayo Clinic's integrated model of care and discovery, bringing together clinicians and scientists to accelerate advances in understanding and treating complex neurological diseases. That collaborative approach continues to drive progress in genetic screening and translational research for ALS, FTD and related conditions today.

Dr. Rademakers served on the Mayo Clinic faculty from 2005 to 2019 and continues to collaborate with colleagues as a supplemental consultant in the Department of Neurosciences. She is currently the director of the VIB Center for Molecular Neurology at the University of Antwerp in Belgium.

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Related:

• Mayo Clinic Researcher Honored for ALS Genetic Discovery- Mayo Clinic News Network
• Mayo Clinic Receives $6 Million for ALS, FTD Research
• Neuroscience powerhouses at Mayo Clinic in Florida
• Florida Scientist to Receive International Award for Advances in Dementia Research

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:

• Tia Ford, Mayo Clinic Communications, newsbureau@mayo.edu

The post Mayo Clinic researcher awarded Breakthrough Prize for ALS-dementia gene discovery appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — Mayo Clinic researchers have developed a new method to identify which proteins are most likely to trigger an immune response — a discovery that could help improve transplant care, regenerative biotherapeutics and other areas of medicine where the immune system plays a critical role.

The results, published in Biomaterials, challenge a common assumption in the field that all proteins are equally likely to provoke immune reactions.

"Some proteins can trigger a very strong response even when only tiny amounts remain, while others are much less troublesome," says Leigh Griffiths, Ph.D., MRCVS, senior author of the study and a researcher at Mayo Clinic. "That gives us a much clearer roadmap for designing safer, more durable biomaterials."

The team's approach combines two factors: how much of each protein is present and how strongly it activates the immune system. By integrating these measurements, researchers can rank proteins from the most immunogenic to the least, revealing which ones matter most.

The researchers call this measurement the Ratio of Immunogenicity, or ROI. Applying it across hundreds of proteins revealed patterns that had not been clearly recognized before.

One of the most striking findings involved mitochondria — structures inside cells best known for producing energy. The study found that mitochondrial proteins were far more likely to evoke strong immune responses than proteins from other parts of the cell, accounting for more than a quarter of the most immunogenic proteins identified. Mitochondria likely evolved from ancient bacteria, and that evolutionary history may help explain why the immune system appears especially sensitive to them when they are exposed.

"We think the body has never fully accepted mitochondria as part of itself — they're normally hidden inside the cell, and when they're exposed, the immune system may still recognize them as foreign," says Dr. Griffiths.

The implications extend beyond tissue engineering. The researchers say the same strategy could help identify the most important immune targets in organ transplantation, infectious diseases and cancer biology. In transplantation, for example, ranking the most immunogenic proteins could eventually help scientists develop better biomarkers to detect rejection earlier or guide more targeted therapies.

The work also aligns with Mayo Clinic's Genesis strategic initiative by advancing the science needed to create next-generation regenerative medicine products. Dr. Griffiths' laboratory is already using these insights to refine engineered tissues intended for clinical use, with the goal of removing the proteins most likely to cause harmful immune reactions while preserving the structure needed for healing and integration.

"This study fills a critical gap in knowledge," Dr. Griffiths says. "If we want to build regenerative therapies and implants that are truly safe and effective, we need to understand not just that the immune system is reacting, but what exactly it is reacting to. That understanding is what will help move better products to patients."

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:

• Terri Malloy, Mayo Clinic Communications, newsbureau@mayo.edu

The post New Mayo Clinic technique identifies proteins that trigger immune responses in transplants, implants appeared first on Mayo Clinic News Network.

On a global stage in Berlin, surrounded by leading scientists and engineers in quantum computing, a Mayo Clinic team earned first place at the Berlin Quantum Hackathon 2026.

The five-week hackathon challenged six finalist teams to prove that quantum computing — one of science's newest and most complex frontiers — can solve meaningful problems beyond theory. More than 180 teams applied to compete. The awards were presented on March 5.

The Mayo team built a novel quantum-powered model capable of detecting movement intention directly from brain activity. 

Code, circuits and possibility

Inside the competition hall, conversations unfolded in the language of quantum science — qubits, circuits and optimization algorithms. Teams presented performance metrics to an expert judging panel that challenged assumptions and tested claims on the spot. Technical execution, scalability and real-world impact all factored into the score.

Among them stood a Mayo Clinic team that had begun studying quantum computing only a year earlier.

They approached the challenge the way Mayo Clinic approaches medicine: with the patient at the center and the science pushed to its limits.

Decoding the intent to move

The team's work began with a clinical question: What happens when the brain intends to move, but the body cannot?

In people living with paralysis or other motor impairments, the brain still sends the signal, carrying intention across neural networks even when the body cannot respond.

The team set out to detect that signal by distinguishing the intent to move a left hand from a right — a subtle difference buried within the brain's constant electrical rhythm.

They drew on electroencephalogram, or EEG, recordings, which capture the brain's electrical activity as continuous waves layered with motion and background noise.

To isolate that distinction, they built a hybrid system that combined advanced AI with emerging quantum tools. That required learning the language of quantum science.

"One of our secrets to success was focusing on the complete solution, not just the computational challenge," says Dr. Rickey Carter, professor of biostatistics at Mayo Clinic and the team leader. "We built around patients' needs and paid close attention to the edge cases where the model struggled. That's where we concentrated our quantum efforts."

If validated in future research, such signals could one day help guide assistive technologies or prosthetics, potentially enabling more precise control of movement.

At the leading edge of discovery 

For Dr. Charles Bruce, chief innovation officer at Mayo Clinic in Florida, the hackathon reflected a broader commitment: building bridges across disciplines and borders in a field that advances through shared expertise.

"Standing alongside leaders in this field strengthened our work and reminded us that advancement happens together," Dr. Bruce says. "We entered this challenge as underdogs. None of us had prior quantum computing experience. But progress is built collectively. You learn from one another, blending biology with data science, and the work becomes stronger because of it."

The multidisciplinary team from Mayo Clinic in Florida — Dr. Carter, Miko Wieczorek, Dr. Michele Dougherty, Dr. Feifei Li and Dr. Bruce — built the model from the ground up. Mayo Clinic's Quantum Sensing and Computing program supported the effort, exploring how emerging quantum technologies may intersect with patient care.

Miko Wieczorek, a data scientist in the Mayo Clinic Digital Innovation Lab, led the team's work running the model on a quantum computer — a first for Mayo.

"When our model executed successfully on a quantum computer, it felt like stepping into the next chapter of science," Wieczorek says. "In that moment, we realized we weren't just observing this field — we were helping shape it."

Dr. Michele Dougherty, a medical physicist in Radiation Oncology, contributed expertise in complex optimization.

"Quantum computing could eventually help us design safer and more precise radiation treatments," she says. "If it accelerates how we find the best possible plan for a patient, that's meaningful."

Dr. Feifei Li, a former theoretical physicist who is now a medical physicist in Radiation Oncology at Mayo Clinic, says the project highlights how quantum computing could expand the boundaries of medical research.

"Some scientific questions remain unsolved not because we lack data, but because of how difficult they are to model," Dr. Li says. "Quantum computing gives us a different way to approach that complexity."

Quantum computing moves toward application

The event was hosted by Berlin-based quantum software company Kipu Quantum and supported by the State of Berlin's Quantum Initiative and the Charité-Berlin University Medicine.

"Quantum computing is proving this year that we can design hybrid quantum-classical solutions for tackling industrial problems," says Enrique Solano, CEO of Kipu Quantum. "Medical imaging and life science will occupy a key role in the list of applications. By winning the hackathon, Mayo Clinic is making an important step toward this visionary goal."

Shaping the frontier 

For the Mayo Clinic team, the Berlin hackathon reaffirmed that real progress begins with curiosity, collaboration and the courage to explore uncharted territory. Together, they showed how multidisciplinary teams can carry some of healthcare's most pressing challenges toward its next frontier.

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ROCHESTER, Minn. — Alzheimer's-related brain changes progressed up to 20 times faster in women who also had abnormal levels of a Parkinson's-related protein, according to a Mayo Clinic study published in JAMA Network Open. The same pattern was not observed in men.

The findings suggest that when alpha-synuclein — a protein linked to Parkinson's disease — accumulates alongside Alzheimer's pathology, it may drive faster disease progression in women. That interaction could help explain a long-standing disparity: women make up nearly two-thirds of people living with Alzheimer's disease in the U.S.

Kejal Kantarci, M.D., a Mayo Clinic neuroradiologist and senior author of the study, uses advanced brain imaging to track Alzheimer's progression.

"Recognizing these sex-specific differences could help us design more targeted clinical trials and ultimately more personalized treatment strategies," Dr. Kantarci says. "When we see disease-related changes unfolding at dramatically different rates, we cannot keep approaching Alzheimer's as though it behaves exactly the same way in everyone. Co-pathologies may impact the disease process."

Alzheimer's disease is marked by the buildup of tau protein in the brain. Many people along the Alzheimer's disease continuum also develop abnormal clumping of α-synuclein, a protein associated with Lewy body diseases such as Parkinson's disease and dementia with Lewy bodies.

Tau and α-synuclein occur naturally in the brain. In neurodegenerative diseases, however, these proteins can misfold and clump together, forming abnormal deposits. This pathological buildup disrupts communication between brain cells and contributes to cognitive decline.

Researchers set out to determine whether having both abnormal protein buildups alters how the disease progresses and whether that effect differs between women and men.

To investigate, the team analyzed data from 415 participants in the Alzheimer's Disease Neuroimaging Initiative, a national research consortium that tracks brain changes over time. Participants underwent cerebrospinal fluid testing to detect abnormal α-synuclein and repeated brain imaging to measure changes in tau accumulation. About 17% of participants showed evidence of abnormal α-synuclein.

Among participants with both Alzheimer's-related pathology and α-synuclein abnormalities, women accumulated tau dramatically faster than men with the same coexisting protein changes.

Elijah Mak, Ph.D., first author of the study and a Mayo Clinic neuroimaging researcher, studies how multiple brain pathologies interact and drive disease progression.

"This opens an entirely new direction for understanding why women bear a disproportionate burden of dementia," Dr. Mak says. "If we can unravel the mechanisms behind this vulnerability, we may uncover targets we haven't considered before."

The researchers are now examining whether these sex-specific effects also appear in patients with dementia with Lewy bodies, where α-synuclein is the primary disease driver rather than a coexisting pathology. The work will help determine whether the observed difference is unique to Alzheimer's disease or reflects a broader sex-specific vulnerability across neurodegenerative conditions.

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:

• Tia Ford, Mayo Clinic Communications, newsbureau@mayo.edu

The post Mayo Clinic researchers link Parkinson’s-related protein to faster Alzheimer’s progression in women  appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — Mayo Clinic researchers have identified a hidden "movement map" deep within the brain — a discovery that could help surgeons reduce side effects from epilepsy procedures and guide future treatments for speech and movement disorders.

In a study published Feb. 18 in the Proceedings of the National Academy of Sciences, the team reports that a small, buried brain region called the insula contains its own organized map of the body. Distinct areas within the insula are linked to movement of the hands, feet, and tongue.

The finding has immediate relevance for epilepsy care. Surgeons sometimes operate in or near the insula to treat seizures, and up to 30% of patients can experience temporary problems with speech, swallowing or hand movement afterward. Until now, doctors did not have detailed maps showing exactly where those functions are located in this deep brain region.

"If we can identify where hand and speech functions live in each patient, we can better anticipate — and potentially avoid — those deficits," says Panos Kerezoudis, M.D., a Mayo Clinic neurosurgery resident and lead author of the study. "This gives us a practical roadmap."

The insula sits several centimeters beneath the brain's surface, hidden under other lobes, which has made it difficult to study with traditional techniques.

"For a long time, people thought this region was generally active during many tasks — more of an integrator than a structured map," says Dr. Kerezoudis. "We wanted to know whether it follows the same organized layout we see in the main motor cortex, or if it responds the same way no matter what you move."

To answer that question, researchers in the Cybernetics and Motor Physiology Lab at Mayo studied 18 patients with medically refractory epilepsy who had thin recording electrodes placed deep in their brains as part of their clinical care.

While hospitalized, patients performed simple movements such as opening and closing their hand, moving their tongue, or flexing their foot. The electrodes recorded electrical activity in both the insula and the primary motor cortex, the brain's main movement center, with millisecond precision.

The results showed clear organization: hand movements activated one area of the insula, tongue movements another and foot movements yet another, though less prominently.

"We found distinct body-part representation in this deep structure," says Dr. Kerezoudis. "It is not random. There is order."

The timing of activity was also revealing. The primary motor cortex became active first, followed by the insula, and then movement occurred.

"This shows that the insula is not simply reacting after we move," says Kai Miller, M.D., Ph.D., a Mayo Clinic neurosurgeon and senior author of the study. "This discovery expands our understanding of how movement is supported by a distributed brain network whose parts are more tightly integrated than we previously thought. By mapping it carefully, we can make brain surgery and neuromodulation safer, more precise, and beneficial for more people."

In a subset of patients, researchers delivered brief, safe electrical pulses to test how the regions communicate. Stimulating a hand-related area in the motor cortex triggered a response in the matching area of the insula, and the same pattern held for tongue regions.

"The connections respect the body map — hand connects to hand, tongue to tongue," says Dr. Kerezoudis. "That strengthens the case that this is an organized network."

Clinically, the findings could help neurologists better interpret seizure symptoms, such as hand contractions or facial movements, and refine electrode placement during epilepsy evaluations. Surgeons may also use individualized maps to plan procedures more precisely.

Beyond epilepsy, the work may inform future therapies for stroke survivors with speech or hand movement difficulties. If movement relies on a network that includes both the primary motor cortex and the insula, treatments such as targeted brain stimulation may need to address both areas.

The study supports Mayo Clinic's Bioelectronic Neuromodulation Innovation to Cure (BIONIC) initiative by using advanced brain-recording technology to translate scientific discoveries into practical care strategies. It also aligns with Pre-cure, which focuses on anticipating and preventing complications before they occur — such as identifying critical movement areas before surgery rather than reacting to deficits afterward.

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:

• Tia Ford, Mayo Clinic Communications, newsbureau@mayo.edu

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ROCHESTER, Minn. — The brain may inadvertently "learn" to have seizures by treating them like important memories to be stored, according to new research from Mayo Clinic.

The study, published in the Journal of Neuroscience, found that after a seizure, the brain enters a deep sleep state that mimics memory storage — and that this effect can persist into the following night's sleep. In effect, this "saves" the seizure's path like a normal memory, strengthening the disease. The findings suggest new opportunities to prevent epilepsy from worsening by targeting brain activity during the hours immediately following a seizure and during the subsequent night of sleep — a critical period when harmful brain changes may occur.

"Sleep is one of the brain's most powerful tools for learning and memory," says Vaclav Kremen, Ph.D., a neuroscientist and engineer at Mayo Clinic and lead author of the study. "What we're seeing is that after a seizure, the brain may be engaging the same biological processes used to consolidate memories, but instead reinforcing the networks that generate seizures."

Epilepsy affects an estimated 50 million people worldwide, and many patients continue to have seizures despite medication. Understanding the relationship between seizures and sleep could help explain why epilepsy can worsen over time and why memory, mood and sleep problems are common in people with the condition.

The study analyzed long-term brain recordings from implanted devices in 11 people with epilepsy. Using these recordings, researchers compared sleep patterns on nights following seizures to nights when no recent seizures occurred.

They found that after a seizure, the brain consistently entered a prolonged and intensified state of deep sleep, known as non-rapid eye movement (NREM) sleep. During this period, slow brain waves became stronger and steeper — key features of memory consolidation — particularly within the specific brain regions where seizures originate.

At the same time, rapid eye movement (REM) sleep, which is important for emotional processing and cognitive health, was reduced. On average, patients slept longer and spent more time in deep sleep after seizures, but they experienced less REM sleep compared with seizure-free nights.

The researchers call this process seizure-related consolidation, a phenomenon in which seizures appear to hijack the brain's normal learning mechanisms. Rather than helping the brain recover, this post-seizure sleep state may strengthen abnormal neural circuits, creating a vicious cycle in which each seizure increases the likelihood of future seizures.

"Instead of treating seizures as isolated events, this research shows they may actively shape the brain in ways that promote disease progression," says Dr. Kremen.

Importantly, the findings point to a potential new window for treatment — the hours and nights after a seizure — when targeted intervention could disrupt this harmful learning process.

"If we can safely intervene during this post-seizure window, we may be able to weaken seizure networks rather than reinforce them,” says Gregory Worrell, M.D., Ph.D., a neurologist at Mayo Clinic and senior author of the study.

These insights support Mayo Clinic's Bioelectronics Neuromodulation Innovation to Cure (BIONIC) initiative, which aims to devise personalized neuromodulation therapies to prevent, treat, and potentially reverse neurological disease. By combining long-term brain sensing, advanced analytics and an understanding of how the brain adapts after seizures, the study highlights the potential for bioelectronic approaches to promote healthier brain function.

Future research will focus on translating these discoveries into BIONIC-enabled therapies, including adaptive closed-loop brain stimulation systems designed to respond to seizures and sleep states in real time. Mayo Clinic researchers have already begun designing next-generation approaches aimed at breaking this cycle and restoring normal brain activity.

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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:

• Tia Ford, Mayo Clinic Communications, newsbureau@mayo.edu

The post Brain may reinforce seizures during sleep, Mayo Clinic study suggests appeared first on Mayo Clinic News Network.

These discoveries reflect progress across three major innovation efforts at Mayo Clinic. Mayo Clinic clinicians and scientists are working together to develop tools to predict and intercept biological processes before they evolve into disease or progress into complex, hard-to-treat conditions through the Precure initiative. They are advancing new cures for end-organ failure beyond traditional transplantation as part of the Genesis initiative. They are also uniting clinical insight with cutting-edge engineering to deliver novel neurological diagnostics and therapies through the Bioelectronics Neuromodulation Innovation to Cure (BIONIC) initiative. 
 

1. 'Virtual clinical trials' may predict success of heart failure drugs 

Mayo Clinic researchers have created "virtual clinical trials" that advance the discovery of therapies while reducing time, cost and the risk of failed studies by combining advanced computer modeling with real-world patient data as part of the Precure and Genesis initiatives. Through one virtual clinical trial, they have developed a new way to predict whether existing drugs could be repurposed to treat heart failure, one of the world's most pressing health challenges. 

"Clinical trials will always remain essential," says Cui Tao, Ph.D., the Nancy Peretsman and Robert Scully Chair of Artificial Intelligence and Informatics and vice president of Mayo Clinic Platform Informatics. "But this innovation demonstrates how AI can make research more efficient, affordable and broadly accessible. Integrating trial emulation, simulation, synthetic trials and biomedical knowledge modeling opens the door to a new paradigm in translational science." 

2. New discovery may unlock regenerative therapies for lung disease

Mayo Clinic researchers have uncovered the molecular "switch" that directs a small but powerful set of cells that choose whether to repair tissue or fight infection, a discovery that could inform regenerative therapies for chronic lung diseases, which is part of Mayo Clinic's Genesis initiative.
 
"We were surprised to find that these specialized cells cannot do both jobs at once," says Douglas Brownfield, Ph.D., senior author of the study. "Some commit to rebuilding, while others focus on defense. That division of labor is essential — and by uncovering the switch that controls it, we can start thinking about how to restore balance when it breaks down in disease." 

3. Stem cells may offer new hope for end-stage kidney disease treatment

Mayo Clinic researchers found that injecting patients' own stem cells from fat cells into the vein before hemodialysis, a treatment for end-stage kidney disease, often helped prevent inflammation and vein narrowing. This could help millions of people tolerate dialysis longer, extending the time before they require a kidney transplant as part of the Mayo Clinic Genesis initiative. 

"This approach has the potential to improve outcomes for millions of patients with kidney failure, reduce healthcare costs and inform new clinical guidelines for dialysis access management if validated in larger clinical trials," says Sanjay Misra, M.D., a Mayo Clinic interventional radiologist. 

4. Mayo Clinic physicians map patients' brain waves to personalize epilepsy treatment

Using detailed maps of each patient's unique brain wave patterns, Mayo Clinic physicians can now pinpoint where stimulation is most effective, moving beyond the traditional one-size-fits-all approach to epilepsy treatment. This research is part of the BIONIC initiative.

"The long-term goal is to quiet the seizure network, so it is eventually forgotten. Reorganizing the neuronal network could move us beyond controlling seizures to actually curing epilepsy," says Nick Gregg, M.D., a Mayo Clinic neurologist. 

5. New genetic biomarker flags aggressive brain tumors

Mayo Clinic researchers found when meningiomas — the most common type of brain tumor — show activity in a gene called telomerase reverse transcriptase (TERT), it tends to recur more quickly, even if it looks low grade under the microscope. This is part of the Mayo Clinic Precure initiative. 

"High TERT expression is strongly linked to faster disease progression," says Gelareh Zadeh, M.D., Ph.D., a neurosurgeon at Mayo Clinic and senior author of the study. "This makes it a promising new biomarker for identifying patients who may be at greater risk of developing aggressive disease."

6. Mayo Clinic researchers discover the immune system's 'fountain of youth'

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.  
 
"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," says Cornelia Weyand, M.D., Ph.D., a Mayo Clinic rheumatologist and clinician-scientist. This is part of the Mayo Clinic Precure initiative.

7. Mayo Clinic tools predict, identify and diagnose Alzheimer's, dementia quicker

Mayo Clinic researchers have developed new tools to estimate a person's risk of developing Alzheimer's disease years before symptoms appear as part of the Precure initiative and to help clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using one scan. They also confirmed the accuracy of an FDA-approved blood test that can be used at outpatient memory clinics to diagnose the disease in patients with a range of cognitive impairment. 

"Every patient who walks into my clinic carries a unique story shaped by the brain's complexity," says David T. Jones, M.D., a Mayo Clinic neurologist. "That complexity drew me to neurology and continues to drive my commitment to clearer answers."

8. Mayo Clinic research improves dense breast cancer screening and early detection

Nearly half of all women in the U.S. have dense breast tissue, which can make detecting breast cancer difficult with a mammogram. Mayo Clinic researchers found that adding another test, called molecular breast imaging, or MBI, to a 3D mammogram, improved the ability to find cancer in dense tissue by more than double. 
 
"Our research focuses on detecting the most lethal cancers, which can include invasive tumors that grow quickly. If these are detected earlier, we likely can save more lives," says Carrie Hruska, Ph.D., a Mayo Clinic professor of medical physics and lead author of the study. 

9. Mayo Clinic researchers find 'sugar coating' cells can protect those typically destroyed in type 1 diabetes

After identifying a sugar molecule that cancer cells use on their surfaces to hide from the immune system, Mayo Clinic researchers have found the same molecule may eventually help in the treatment of type 1 diabetes, once known as juvenile diabetes. 

"A goal would be to provide transplantable cells without the need for immunosuppression," says Virginia Shapiro, Ph.D., a Mayo Clinic immunology researcher. "Though we're still in the early stages, this study may be one step toward improving care."

10. New study calculates autoimmune disease prevalence

Mayo Clinic researchers and collaborators have described — for the first time — the prevalence of autoimmune diseases in the U.S. Their research reports that about 15 million people are estimated to have one or more of 105 autoimmune diseases. The study also found that autoimmune diseases occur most often in women, and it identified the top autoimmune diseases by prevalence, sex and age. 
 
"Knowing the number of patients with an autoimmune disease in the U.S. is critical to assess whether these diseases are increasing or decreasing over time and with treatment," says DeLisa Fairweather, Ph.D., vice-chair of translational research for the Department of Cardiovascular Medicine at Mayo Clinic in Florida and corresponding author of 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: 

• Julie Ferris-Tillman, Ph.D., Mayo Clinic Communications, newsbureau@mayo.edu

The post A Year of Discovery: 10 Mayo Clinic research breakthroughs moving medicine forward  appeared first on Mayo Clinic News Network.