Imagine knowing your risk for disease long before symptoms appear. With early detection and targeted interventions, this knowledge could transform how complex healthcare challenges are addressed. Researchers are now leveraging genetic data to enhance disease risk prediction through an innovative tool known as a polygenic risk score. Learn more on a new episode of Tomorrow's Cure.

The podcast's latest episode features Victor Ortega, M.D., Ph.D., associate director of the Mayo Clinic Center for Individualized Medicine, and Louise Wain, Ph.D., professor of respiratory research, University of Leicester in the U.K.

Scientists have developed polygenic risk scores to analyze multiple genetic variants across a person's genome. These scores assess the likelihood of developing conditions such as heart and lung diseases, diabetes, asthma, and certain cancers.

"There's really no one singular variant in the genome that causes common diseases. It's really a lot of different variants across the genome, across our genomes that have weaker or milder effects on disease risk, but all together give us this increased risk," explains Dr. Ortega.

"With those discoveries, we've developed genetic risk scores, polygenic risk scores, where we bring together the effects or associations across variants, across entire genomes into a singular score," he continues.

Clinicians can then utilize these risk scores to potentially customize prevention and treatment strategies.

"These are quite early in development, but are potentially really, really important," says Dr. Wain. "In the future, we could use these to improve diagnosis where somebody is already presenting with the disease, but they need a specific diagnosis in order to access the medicines that are going to work for them." Dr. Ortega says the potential of polygenic risk scores is both exciting and promising. Find out more on the latest episode of Tomorrow's Cure. To view the complete list of episodes and featured experts, visit tomorrowscure.com.

Related content:

• What's your health forecast? Expert explains science behind personal guides to well-being
• Mayo pioneers population science to advance personalized medicine

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Dr. Kathy MacLaughlin, a Mayo Clinic family physician specializing in cervical cancer prevention, says screening for HPV is important, but there are barriers for some patients to screening tests that require a speculum exam — and that leads to lower screening rates in those populations. 

A new option will be offered soon to help with these healthcare disparities. Mayo Clinic is one of a few medical organizations in the U.S. that will provide eligible patients with the option of an FDA-approved self-collection HPV test. The alternative screening is expected to become available at Mayo Clinic practices in the Midwest beginning February 5 and then later expand to Mayo Clinic in Arizona and Mayo Clinic in Florida. 

Watch: Improving cervical cancer screening with HPV self-collection tests

Journalists: Broadcast-quality video pkg (1:42) is in the downloads at the end of the post. Please courtesy: "Mayo Clinic News Network." Read the script.

Traditional cancer screening involves a clinician-collected cervical sample for a Pap and/or HPV test. A new option will hopefully get more people screened.

"We're calling it the HPV self-collection test. The difference is that instead of your clinician putting in a speculum and doing a swab of the cervix, the patient would use a self-collection device to get a vaginal sample to test for HPV," says Dr. MacLaughlin.

The HPV self-collection test is done in a healthcare setting

She says the test is quick and painless. It's aimed at people facing barriers to having a speculum exam. For example, those with disabilities, mobility issues, cultural or religious reasons, or a history of trauma. The test is done privately in a healthcare setting, such as an exam room.

How the self-collection test works

"The device is inserted, just like a tampon into the vagina, and the little plastic wings on the side of the device control the insertion depth, so people don't have to worry about pushing it in too far. And then they would take the plunger and push that in, and that extends the sampling brush. This is a very soft, dry bristle brush. And then the handle needs to be rotated five times, and it clicks. You can hear the click. You can feel the clicks, so you know you've done enough turns. Once that has been done, the patient would remove the entire device and just retract the brush and cap it, and this will get sent to the lab for the testing," Dr. MacLaughlin explains.

Talk with your healthcare team to determine which test is best for you. The most important thing is to get screened.

"The beauty of screening is that we're catching things before it is cancer, when it's still treatable as a precancer," she says.

Dr. MacLaughlin says that, for now, the self-collection screening must be done in a healthcare setting and is not for at-home use. However, this is anticipated to change in upcoming years, and eventually, home-based self-collection should be approved. 

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Hollywood's cutting-edge technology is revolutionizing medical education, bridging the gap between classroom learning and clinical practice. Through immersive digital scenarios, medical students are refining their skills and gaining hands-on experience for real-world challenges. Discover how this innovative technology is transforming medical education in a new episode of Tomorrow's Cure.

Featured experts on the podcast episode include Matthew Hoerth, M.D., medical director of the Multidisciplinary Simulation Center at Mayo Clinic in Arizona, and Dan Munnerley, executive director of the Next Lab at Arizona State University. Together, they discuss how advancements in simulation technology and the use of virtual reality are equipping students for the future.

Immersive virtual environments are advancing medical education by accurately replicating healthcare experiences, offering students a higher level of learning.

"This is not a replacement of traditional medical education. We still have requirements. Students still have to see physical people. They have to lay their hands on them. They have to actually talk to real people," says Dr. Hoerth.

"One of my rules in simulation, so to speak, is that it's a safe place, right? We make mistakes when we are simulating, when we're training — whether it's a virtual reality, mannequins, simulated patients — we can make mistakes there. It's OK. We don't want to make mistakes on patients. So, it's not a replacement; this is completely an add-on," he says.

Immersive simulations provide students with opportunities to perfect their skills, which can later be applied to patient care. This technology also makes it possible to introduce complex scenarios in a controlled environment.

"Being able to create a simulation that could be done anywhere — in a headset at home, on the bus through a mobile phone — gives students an extra chance to keep learning in between those more in-person experiences and introduce some of the more complex scenarios they might face when they need to," explains Munnerley.

Dr. Hoerth emphasizes the value of immersive learning. "Putting yourself in virtual reality, you retain so much more of that information if you've kind of lived that experience and interacted with it rather than coming at it passively," he says.

To learn more about the progressive work being done in medical education, listen to the latest episode of Tomorrow's Cure. The podcast is available on all audio platforms, including Apple Podcasts, Spotify and Amazon Music. Episodes also feature a video component, which can be viewed on Mayo Clinic's YouTube channel.

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Excitement filled the auditorium at the Walleye Tank: Ice Fishing Edition, held recently at Mayo Clinic in Rochester, Minnesota.

Thirteen teams took the stage to present their healthcare innovations to a panel of judges and an audience attending in person and online. Projects ranged from addressing the needs of patients with rare or chronic diseases to improving lives through assistive technology.

Each team had two minutes to pitch its innovation, followed by three minutes of Q&A with the judges. Presenters addressed five key questions: Why is it a problem? What is your solution? Why you? Why now? And how is it a business?

Modeled after the TV series "Shark Tank," the Walleye Tank is Minnesota's premier life sciences pitching competition. It provides medical and life science startups with an opportunity to raise capital and network with potential partners. Contestants pitch their projects to a panel of judges, or "Walleyes," vying for cash prizes while receiving valuable feedback and exposure that may advance their innovations.

"Walleye Tank is where innovation meets opportunity here in Minnesota," said Waleed Brinjikji, M.D., medical director of Mayo Clinic Research Innovation, in his opening remarks. "Walleye Tank is a testament to the power of innovation and the potential of entrepreneurs to shape a dynamic and resilient future, both here in Minnesota as well as throughout the globe."

The event was co-sponsored by Mayo Clinic, the University of Minnesota, Launch Minnesota and the Medical Alley Association. Judges representing Mayo Clinic were Alan Gonzalez Suarez; Christine Lee, M.D., Ph.D., Radiology-Diagnostic; Emanuel Trabuco, M.D., Obstetrics and Gynecology; Jason Tri, Cardiovascular Research; and Marina Walther-Antonio, Ph.D., Obstetrics and Gynecology.

Meet the winning teams

Participants competed in three divisions, sharing a total of $20,000 in funding. The winning teams were:

Junior Division: Entrepreneurs in the early stages of business development

• Winner: GroLimb ($2,500)
  Below-knee, adjustable pediatric prosthesis.
• Runner-up: Minneapolis Veterans Medical Center RECOVER ($1,500)
  Upright mobility scooter for older Americans.

Mid-Level Reeler Division: Incorporated companies in the early stages of fundraising

• Winner: One Health Biosensing Inc. ($3,500)
  Health sensing platform for continuous glucose monitoring.
• Runner-up: NorthStar Cryo ($1,500)
  Device enabling long-term cryopreservation of islets from donor or stem cell-derived sources.

Professional Division: Established life science businesses with active sales

• Winner: Zepto Life Technology Inc. ($8,000)
  Invasive fungal infection diagnostic solution.
• Runner-up: SENSE-ational Spaces LLC($3,000)
  Custom sensory-friendly spaces for families.

Bridging the gap between invention and commercialization

Support from pitch competitions like the Walleye Tank helps innovators bring their ideas to market and improve the lives of people with health challenges.

Stefan Madansingh, Ph.D., of Mayo Clinic Ventures, outlined the journey of turning a novel healthcare device, therapy or technology from concept to market ― a process that he said can take years to even decades.

"Healthcare startups fundamentally start with the unmet patient needs," Dr. Madansingh explained. However, he emphasized that most innovations fail to bridge the gap between invention and commercialization.

"The technology is almost always only 25% of the solution when you want to actually get it to patients," he said. "Everything we've talked about here ― the IP (intellectual property), the business model, the sales strategy, the fundraising, the leadership ― matter as much or more."

Ron Thacker, Ed.D., entrepreneurial education program coordinator for Mayo Clinic Research Innovation, and Maria Ploessl, chief of staff for University of Minnesota Technology Commercialization, served as co-masters of ceremonies. Alisha Peters, project assistant for Mayo Clinic Research Innovation, and Katie Breslin, office manager and event associate for University of Minnesota Technology Commercialization, co-organized the event.

Walleye Tank is one of several pitch competitions sponsored by Mayo Clinic Research Innovation, which provides education, consultation, project management and funding to accelerate Mayo Clinic innovations in patient care.

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ROCHESTER, Minn. — Mayo Clinic today unveiled separate groundbreaking collaborations with Microsoft Research and with Cerebras Systems in the field of generative artificial intelligence (AI), designed to personalize patient care, significantly accelerate diagnostic time and improve accuracy.

Announced during the 43^rd Annual J.P. Morgan Healthcare Conference, the projects focus on developing and testing foundation models customized for various applications, leveraging the power of multimodal radiology images and data (including CT scans and MRIs) with Microsoft Research and genomic sequencing data with Cerebras. The innovations have the potential to transform how clinicians approach diagnosis and treatment, ultimately leading to better patient outcomes. 

Foundation AI models are large, pre-trained models capable of adapting to and carrying out many tasks with minimal extra training. They learn from massive datasets, acquiring general knowledge that can be used across diverse applications. This adaptability makes them efficient and versatile building blocks for numerous AI systems.

Mayo Clinic and Microsoft Research advance AI for chest X-rays

Mayo Clinic and Microsoft Research are collaboratively developing foundation models that integrate text and images. For this use case, Mayo and Microsoft Research are working together to explore the use of generative AI in radiology using Microsoft Research’s AI technology and Mayo Clinic’s X-ray data.

"Multimodal foundation models hold immense promise in tackling significant roadblocks across the radiology ecosystem. The innovations we’re creating with Microsoft Research will help unlock valuable insights for the future of medical imaging to improve how radiologists work and how patients are cared for," says Matthew Callstrom, M.D. Ph.D., chair of Mayo Clinic Radiology in the Midwest and medical director for Generative AI and Strategy. "Focusing on chest X-ray reports, Mayo's clinical teams and Microsoft researchers will collaborate to advance the state-of-the-art in multimodal AI radiology, helping bring innovation to real-world application faster and at scale, which is key to making exemplary healthcare more accessible." 

Empowering clinicians with instant access to the information they need is at the heart of this research project. Mayo Clinic aims to develop a model that can automatically generate reports, evaluate tube and line placement in chest X-rays, and detect changes from prior images. This proof-of-concept model seeks to improve clinician workflow and patient care by providing a more efficient and comprehensive analysis of radiographic images.

"This collaboration is a crucial step towards our mutual goal of developing generative AI that improves patient outcomes and the clinician experience," says Jonathan Carlson, Ph.D., managing director, Health Futures at Microsoft Research. "The fusion of Microsoft's recognized research innovations in biomedical AI and Mayo Clinic's radiology excellence will empower clinicians with the tools they need to deliver more precise and accessible care and furthers Microsoft’s commitment to bringing the power of emerging AI to clinical researchers worldwide."

Mayo Clinic and Cerebras create a world-leading genomic foundation model

Mayo Clinic and Cerebras have created a genomic foundation model that combines publicly available human reference genome data that represents an ideal version of the human genome, with Mayo's comprehensive patient exome data and the power of its Mayo Clinic Platform. Exome data focuses on the protein-coding region of the genome where several disease-causing mutations take place. Cerebras's high-powered computing and generative AI capabilities make it possible to train and develop the model at scale, positioning it to be further refined for more specific uses.

"The genomic foundation model represents a significant advancement in personalized medicine," says Dr. Callstrom. "Its ability to analyze genomic data and compare them in almost real-time with patients with similar traits allows for more precise prediction of disease and treatment response, leading to faster diagnoses and the selection of targeted therapies for patients."

For example, rheumatoid arthritis (RA) is a debilitating autoimmune disease, and the standard treatment approach often requires trials of different therapies to achieve disease remission. It can take several months to know if a therapy is working. A new genomic model developed by Mayo Clinic and Cerebras offers a potential solution to shorten the time to identify effective treatment and avoid long-term morbidity associated with the untreated disease. Early findings demonstrate high performance against benchmarks and show early promise in identifying patient response to therapy. As more patient data is added, the model's predictive power is expected to increase, leading to faster, more effective personalized treatment for RA patients.   

"Mayo’s genomic foundation model sets a new bar for genomic models, excelling not only in standard tasks like predicting functional and regulatory properties of DNA but also enabling discoveries of complex correlations between genetic variants and medical conditions," says Natalia Vassilieva, Field CTO at Cerebras Systems. "Unlike current approaches focused on single-variant associations, this model enables the discovery of connections where collections of variants contribute to a particular condition."

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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

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ROCHESTER, Minn. — Against the backdrop of the 43^rd Annual J.P. Morgan Healthcare Conference, Mayo Clinic announced the formation of Mayo Clinic Digital Pathology, designed on a platform architecture to boldly unlock the power of its extensive archive of digital slides to revolutionize pathology and accelerate medical breakthroughs.

Mayo Clinic's expertise, de-identified clinical data, and its Platform architecture, combined with technical expertise and resources of NVIDIA, a world leader in accelerated computing, is powering the ability to accelerate this transformation. In addition, to improve performance and scalability of generative AI in pathology, Mayo Clinic is collaborating with Aignostics, an industry leader in building artificial intelligence (AI) models for digital solutions in precision medicine in a way that mirrors its established approach to patient care. This collaborative, multidisciplinary effort leverages both medical and technological strengths, and the early achievements are promising.

"Mayo Clinic is reimagining what is possible in disease detection and prediction, both within its own system and globally. We are doing this by using large, diverse datasets to build powerful artificial intelligence models in pathology. This will make diagnoses faster, more accurate, and more efficient, improving treatment approaches and speeding new cures to patients," says Jim Rogers, CEO, Mayo Clinic Digital Pathology.

"AI-driven insights can accelerate diagnostics, enhance precision medicine and revolutionize patient care," said Kimberly Powell, VP of Healthcare and Life Sciences, NVIDIA. "By digitizing and harnessing the power of vast datasets through its Digital Pathology platform, powered by NVIDIA's accelerated computing, Mayo Clinic is helping pave the way for a future with faster medical breakthroughs, better treatments and improved outcomes for patients across the globe."

"Merging Mayo Clinic's data and expertise with our advanced machine learning capabilities will produce breakthrough foundation models and AI products that advance the field of precision medicine and meaningfully improve patient care," says Viktor Matyas, CEO of Aignostics.

The vast majority of pathology practices remain tethered to analog processes, hindering access to critical diagnostic data that could be used to expand diagnostics and treatments and speed the development of new therapies to benefit patients. To address this challenge, Mayo Clinic has moved quickly, investing in digitizing its pathology practice and by scanning its extensive archive of pathology slides, as well as prospectively scanning pathology slides from current patients. To date, Mayo Clinic Digital Pathology has leveraged 20 million digital slide images linked to 10 million patient records that incorporate treatments, medications, imaging, clinical notes, genomic data and more.

In less than two months, Mayo Clinic and Aignostics developed a leading foundation model built on 1.2 million deidentified slides from Mayo Clinic and Charité – Universitätsmedizin Berlin, findings of which were published in a paper on Jan. 9. Current efforts include developing and deploying new solutions enabled by this model. Future plans are focused on building new models, including one being trained on 5 million slides.   

The NVIDIA collaboration will create a first-in-class infrastructure for building and deploying foundation models to accelerate generative AI advances in pathology and beyond. With NVIDIA's healthcare-specific full stack computing architecture for artificial intelligence, NVIDIA Clara, Mayo Clinic is building models that will open new frontiers in medicine and lay the foundation for more personalized patient experiences.      

The development of Mayo Clinic Digital Pathology has been a planned process over many years. The pathology platform takes advantage of the portfolios of Mayo Clinic Platform, a global network that drives digital innovation around diagnosis, treatment and operational improvements worldwide, and Mayo Clinic Laboratories, which provides advanced testing and pathology services for healthcare organizations worldwide. Continuing its efforts to transform healthcare, Mayo Clinic is working with investors and data providers to continue building a pathology platform that spurs innovation and transforms the medical practice for the benefit of healthcare systems and patients worldwide.

"These new capabilities using digital pathology data will unlock this critically important clinical information for building AI solutions for advanced diagnosis and care of patients and that will improve the lives of patients globally," says Matthew Callstrom, M.D. Ph.D., chair of Mayo Clinic Radiology in the Midwest and medical director for Generative AI and Strategy.

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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

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Mayo Clinic researchers have pioneered an artificial intelligence (AI) tool, called OmicsFootPrint, that helps convert vast amounts of complex biological data into two-dimensional circular images.  

Omics is the study of genes, proteins and other molecular data to help uncover how the body functions and how diseases develop. By mapping this data, the OmicsFootPrint may provide clinicians and researchers with a new way to visualize patterns in diseases, such as cancer and neurological disorders, that can help guide personalized therapies. It may also provide an intuitive way to explore disease mechanisms and interactions. 

The details of the tool are published in a new study in Nucleic Acids Research.  

"Data becomes most powerful when you can see the story it's telling," says Krishna Rani Kalari, Ph.D., lead author of the study and associate professor of biomedical informatics at Mayo Clinic's Center for Individualized Medicine. "The OmicsFootPrint could open doors to discoveries we haven't been able to achieve before." 

Simplifying complex data 

Genes act as the body’s instruction manual, while proteins carry out those instructions to keep cells functioning. Sometimes, changes in these instructions — called mutations — can disrupt this process and lead to disease. The OmicsFootPrint helps make sense of these complexities by turning data — such as gene activity, mutations and protein levels — into colorful, circular maps that offer a clearer picture of what’s happening in the body. 

In their study, the researchers used the OmicsFootPrint to analyze drug response and cancer multi-omics data. The tool distinguished between two types of breast cancer — lobular and ductal carcinomas — with an average accuracy of 87%. When applied to lung cancer, it demonstrated over 95% accuracy in identifying two types: adenocarcinoma and squamous cell carcinoma. 

Small data sets bring big impacts 

The study showed that combining several types of molecular data produces more accurate results than using just one type of data. 

The OmicsFootPrint also shows potential in providing meaningful results even with limited datasets. It uses advanced AI methods that learn from existing data and apply that knowledge to new scenarios — a process known as transfer learning. In one example, it helped researchers achieve over 95% accuracy in identifying lung cancer subtypes using less than 20% of the typical data volume.  

"This approach could be beneficial for research even with small sample size or clinical studies," Dr. Kalari says. 

To enhance its accuracy and insights, the OmicsFootPrint framework also uses an advanced method called SHAP (SHapley Additive exPlanations). SHAP highlights the most important markers, genes or proteins that influence the results to help researchers understand the factors driving disease patterns. 

From research to clinical practice 

Beyond research, the OmicsFootPrint is designed for clinical use. It compresses large biological datasets into compact images that require just 2% of the original storage space. This could make the images easy to integrate into electronic medical records to guide patient care in the future. 

The research team plans to expand the OmicsFootPrint to study other diseases, including neurological diseases and other complex disorders. They are also working on updates to make the tool even more accurate and flexible, including the ability to find new disease markers and drug targets. 

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

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Growing mini-organs to find new treatments for complex disease

Mayo Clinic investigators are growing three-dimensional human intestines in a dish to track disease and find new cures for complex conditions such as inflammatory bowel disease. These mini-organs function like human intestines, with the ability to process metabolites that convert food into energy on a cellular level and secrete mucus that protects against bacteria. These 3D mini-intestines in a dish, known as "organoids," provide a unique platform for studying the intricacies of the human gut.

"We think this has the potential to revolutionize the way we approach disease research. We hope to save time and resources and avoid the development of therapies that fail upon translation into patients," says Charles Howe, Ph.D., who leads the Translational Neuroimmunology Lab. "Understanding which treatments show potential for success in human organoids could dramatically accelerate the rate of new therapies for patients with unmet needs."

Brain stimulation shows promise in treating drug addiction

Physicians use neurostimulation to treat a variety of human disorders, including Parkinson's disease, tremor, obsessive-compulsive disorder and Tourette syndrome. A Mayo Clinic neurosurgeon and his colleagues believe one form of that treatment, called deep brain stimulation (DBS), is poised to solve one of the most significant public health challenges: drug addiction.

"Drug addiction is a huge, unmet medical need," says Kendall Lee, M.D., Ph.D., who has published nearly 100 journal articles on DBS along with his colleagues. Key to treating it, he says, is cutting off the pleasurable "high" that comes with the addiction — which DBS potentially can do.

A new class of AI aims to improve cancer research and treatments

Mayo Clinic researchers have invented a new class of artificial intelligence (AI) algorithms called hypothesis-driven AI, which is a significant departure from traditional AI models that learn solely from data. The researchers note that this emerging class of AI offers an innovative way to use massive datasets to help discover the complex causes of diseases, such as cancer, and improve treatment strategies.

"This fosters a new era in designing targeted and informed AI algorithms to solve scientific questions, better understand diseases and guide individualized medicine," says co-inventor Hu Li, Ph.D., a Mayo Clinic systems biology and AI researcher. "It has the potential to uncover insights missed by conventional AI."

What's lurking in your body? Mayo probes health risks of tiny plastic particles

Similar to natural elements like iron and copper, people can ingest, absorb, or even inhale microplastics and nanoplastics and their chemical additives. A landmark study published in the New England Journal of Medicine links microplastics and nanoplastics found in plaques of human blood vessels to a potential increased risk of heart attack, stroke or death.

"Plastics have made our lives more convenient and spurred many medical advances, but we must understand their impact on human health for the years to come," says Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for Mayo Clinic's Center for Individualized Medicine.

Mayo Clinic researchers' new tool links Alzheimer's disease types to rate of cognitive decline

Mayo Clinic researchers have discovered a series of brain changes characterized by unique clinical features and immune cell behaviors using a new corticolimbic index tool for Alzheimer's disease, a leading cause of dementia. The tool categorizes Alzheimer's disease cases into three subtypes according to the location of brain changes and continues the team's prior work, demonstrating how these changes affect people differently. Uncovering the microscopic pathology of the disease can help researchers pinpoint biomarkers that may affect future treatments and patient care.

"Our team found striking demographic and clinical differences among sex, age at symptomatic onset and rate of cognitive decline," says Melissa Murray, Ph.D., a translational neuropathologist at Mayo Clinic.

Mayo scientists explore swabs for early endometrial, ovarian cancer detection

Early detection improves treatment outcomes for endometrial and ovarian cancers, yet far too often, women are diagnosed when in advanced stages of these diseases. Unlike many other cancers, there are no standard screenings for early detection of endometrial and ovarian cancers. Mayo Clinic researchers have uncovered specific microbial signatures linked to endometrial and ovarian cancers, and they are working toward developing innovative home swab tests for women to assess their susceptibility.

"This research not only brings us closer to understanding the microbial dynamics in cancer, but also holds the potential to transform early detection and treatment strategies to positively impact women's health globally," says Marina Walther-Antonio, Ph.D., an assistant professor of surgery leading this research.

Reversing racism's toll on heart health

People who experience chronic exposure to racism may be affected by factors such as intergenerational trauma, reduced access to healthcare, differential treatment in healthcare settings and psychological distress. These negatively affect heart health and can have a cumulative effect throughout a person's life. Researchers from Mayo Clinic and the University of Minnesota published a paper which provides a new framework describing how racism affects heart health among people of color in Minnesota. The researchers are focused on reversing these disparities.

"This framework will help scientists explore and measure how chronic exposure to racism, not race, influences health outcomes," says Sean Phelan, Ph.D., a Mayo Clinic health services researcher. "This will help enable researchers to design interventions that address the root causes of these disparities and improve heart health for people of color everywhere."

Teamwork and research play a key role in Mayo Clinic's first larynx transplant

A team of six surgeons and 20 support staff combined expertise from the Department of Otolaryngology and the Department of Transplantation in an extraordinary 21-hour operation at Mayo Clinic. The team transplanted a donor larynx to a 59-year-old patient with cancer whose damaged larynx hampered his ability to talk, swallow and breathe. This groundbreaking surgery was only the third larynx transplant in the U.S., and the world's first known successful total larynx transplant performed in a patient with an active cancer as part of a clinical trial.

"All transplants are complex, but there are more tissue types and moving parts with laryngeal transplantation than other transplants," says David Lott, M.D., lead surgeon. "Mayo Clinic's team science approach made it possible for us to offer this type of transplant on a scale that was previously unattainable."

Space: A new frontier for exploring stem cell therapy

Two Mayo Clinic researchers say that stem cells grown in microgravity aboard the International Space Station have unique qualities that could one day help accelerate new biotherapies and heal complex disease. The research analysis by Abba Zubair, M.D., Ph.D., a laboratory medicine expert and medical director for the Center for Regenerative Biotherapeutics at Mayo Clinic in Florida, and Fay Abdul Ghani, Mayo Clinic research technologist, finds microgravity can strengthen the regenerative potential of cells. 

"Studying stem cells in space has uncovered cell mechanisms that would otherwise be undetected or unknown within the presence of normal gravity," says Dr. Zubair. "That discovery indicates a broader scientific value to this research, including potential clinical applications."

Mayo Clinic’s largest-ever exome study offers blueprint for biomedical breakthroughs

Mayo Clinic's Center for Individualized Medicine has achieved a significant milestone with its Tapestry study. It generated Mayo's largest-ever collection of exome data, which includes genes that code for proteins—key to understanding health and disease.  

Researchers analyzed DNA from over 100,000 participants of diverse backgrounds, providing important insights into certain genetic predispositions to support personalized and proactive medical guidance.  "The implications of the Tapestry study are monumental," says Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for the Center for Individualized Medicine. "As this study continues to inform and transform the practice of personalized medicine, it also sets a new standard for how large-scale medical research can be conducted in an increasingly digital and decentralized world."   

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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:

• Colette Gallagher, Mayo Clinic Communications, newsbureau@mayo.edu

The post 10 Mayo Clinic research advances in 2024, spanning stem cell therapy in space to growing mini-organs appeared first on Mayo Clinic News Network.

Research suggests machine learning can assist clinicians with diagnoses, treatment   

Imagine a world where neurological diagnoses are made with greater precision, treatment decisions are supported by data-driven insights and early detection is more frequent. This is the vision driving new research from the Mayo Clinic Neurology Artificial Intelligence Program (NAIP), where artificial intelligence (AI) serves as a powerful tool to support and augment the expertise of healthcare professionals. 

The NAIP team is testing StateViewer, a Mayo-created platform that can take an individual patient's PET scan and apply artificial intelligence to find similar cases of brain disease in Mayo's distributed data network. By enhancing diagnostic accuracy, researchers envision StateViewer will support care teams in determining a dementia diagnosis — such as Alzheimer's disease, Lewy body and frontotemporal dementia — and help guide treatment decisions for patients.  

 "By training AI models on vast datasets of patient brain scans, Mayo's Neurology Artificial Intelligence Program is researching a level of fast detection and precise diagnosis of neurodegenerative diseases that support human expertise," says Dr. David T. Jones, a Mayo neurologist and NAIP director. "Making more precise diagnostic support tools widely available will significantly accelerate progress toward finding cures for these devastating brain conditions and ensuring existing therapies are used for everyone who will benefit."  

Using AI to support clinicians' expertise 

 Typically, when a patient is being evaluated for a brain disease, a clinician carefully reviews the person's PET scan, looking for characteristic patterns that correlate with different types of dementia. These brain scans play a critical role in determining the cause and stage of a patient's condition, which directly informs the treatment plan. 

Mayo Clinic clinicians bring a wealth of expertise to interpreting these complex images. However, distinguishing between different brain diseases can be challenging, even for experts, which can occasionally lead to uncertainties in diagnosis and treatment. 

 To address these challenges, the NAIP team at Mayo Clinic began developing an advanced platform in 2019. This platform leverages machine learning and large-scale data processing to analyze brain scans. Working within the Mayo Clinic Cloud, an innovative technology platform developed in collaboration with Google Cloud, NAIP's multidisciplinary team — including software engineers, data scientists and neurologists — harnesses decades of clinical imaging data. This unified cloud environment allows real-time access and analysis, applying state-of-the-art machine learning techniques to support clinicians in making more precise diagnoses. 

 "Data is the bedrock for any tool of this kind, and our cloud data infrastructure was the essential technology for bringing this platform into the clinic," says Dr. Leland Barnard, head of data science and engineering with NAIP. "By integrating AI with clinician expertise, Mayo Clinic continues to push the boundaries of neurological care, improving diagnostic accuracy and patient outcomes." 

The StateViewer platform generates and displays the results of an individual patient's PET scan compared with PET scans of thousands of other Mayo Clinic patients with potentially similar neurodegenerative conditions whose diagnoses had been confirmed through extensive evaluations, including detailed longitudinal research and autopsy studies. Strict privacy and security measures have been implemented throughout the research process to protect patients' data.  

AI helps pick out the needle in the haystack  

 After verification and validation, StateViewer has been successfully piloted by Mayo neurologists as a research tool. These studies have demonstrated a significant enhancement in the accuracy of clinicians' interpretations of brain images, surpassing what is achievable with current tools alone. Under research, this tool can be used for patients in Mayo's Alzheimer's Disease Treatment Clinic with a PET scan available; the outputs of StateViewer may be reviewed at the weekly multidisciplinary case conference informing precision medicine-based recommendations for these patients.

 "By combining AI analysis with innovative tools, this technology revolutionizes the way clinicians interpret brain scans, enhancing their ability to diagnose and manage patients with neurodegenerative diseases," says Dr. John Stricker, NAIP lead software engineer.

 In a recent retrospective test, the NAIP team compared expert neurologists' diagnoses with StateViewer's ability to accurately detect Lewy body dementia compared with posterior cortical atrophy or other often indistinguishable degenerative conditions. It is difficult to distinguish these conditions visually as they affect similar brain regions, making it an ideal situation to demonstrate the advantages of using machine learning to assist with clinical decision-making. 

 As seen in this test, which is being considered for scientific journal publication, StateViewer's underlying machine learning model presents a probability of each diagnosis and clearly indicates how they were assigned. StateViewer's output helped clinicians double their speed while reviewing brain scans and triple their diagnostic accuracy.

 The technology "can pick out the needle in the haystack," Dr. Jones says.  

Expanding use of StateViewer technology 

Neurologic diseases are a common cause of death globally and a leading cause of disability. As the population ages, this burden grows. However, neurology expertise around the world is extremely limited, especially in low-income countries and in medical care deserts in some rural and urban areas where access to healthcare professionals may be unavailable or have long wait times. The NAIP team's goal is to expand the use of StateViewer technology outside of Mayo with the aim that it could be transformative on a global scale in the near future and expand access to these data-driven insights.  

"The goal is that a Mayo Clinic expert opinion would be available, with the help of one simple test, no matter how far the patient is from our campuses," says Dr. Jones.

 The NAIP team continues to develop several applications using the same cloud-computing approach. New data modalities, such as speech and cognition tests, are planned to be incorporated into StateViewer's analyses, providing a more comprehensive picture of patient health.  

 "I think this could be the first of many powerful innovations," Dr. Barnard says. "Our rich data resources tied to deep neurologic expertise still hold even more untapped potential to do good for our patients." 

 "A union of forces focused on the patient has always been the Mayo model of care," Dr. Stricker says. "Now that multidisciplinary team approach is bringing data scientists and software engineers together with clinicians to help transform healthcare."

Related content:

• Mayo Clinic Minute: Using AI and brain waves for early diagnosis of neurodegenerative disease
• AI boosts the power of EEGs, enabling neurologists to quickly, precisely pinpoint signs of dementia
• Mayo Clinic Minute: Testing gait to help in early diagnosis of neurodegenerative disease
• News release: New computational model proposed for Alzheimer's disease

The post Mayo Clinic Neurology AI Program tests platform to detect brain diseases   appeared first on Mayo Clinic News Network.

There is new hope in the fight against glioblastoma, the deadliest and most aggressive form of primary brain cancer.

Currently there is no cure, but results of a new study conducted at Mayo Clinic show patients experienced improved overall survival while maintaining quality of life after undergoing a novel approach to treatment.

Watch: Breakthrough in the fight against glioblastoma

Journalists: Broadcast-quality video (2:45) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

Richard Casper was one of the study participants. The Arizona man enrolled in the clinical trial at Mayo Clinic in Phoenix after his diagnosis of glioblastoma in 2019. Richard was given only months to live, but his family says thanks to his strength, perseverance, and innovative medical care, he survived nearly double the amount of time.

"To be almost two and a half, three years in after being told you only have a few months, it's quite remarkable," says Susan Casper, Richard's daughter.

Richard succumbed to the disease in 2023. During the treatment, his family says he had little to no side effects. In the months before his passing, Richard stated, "I feel great. If someone didn't tell me I have the glioblastoma, I wouldn't even know it."

The clinical trial was led by Dr. Sujay Vora, a radiation oncologist at Mayo Clinic in Arizona. The small, single-arm study incorporated the use of advanced imaging technology combined with cutting-edge radiation therapy in patients over the age of 65 with newly diagnosed World Health Organization (WHO) grade 4 malignant glioblastoma.

"The patients lived longer than we expected. This patient population is expected to live six to nine months. Our average survival was 13.1 months. There were some patients that were out closer to two years. The results exceeded our expectations. We are very pleased," says Dr. Vora.

The study is published in The Lancet Oncology.

Why is glioblastoma so deadly?

Glioblastoma is among the most challenging cancers to treat. The disease is aggressive and invades healthy brain tissue with hairlike tentacles. "That is why doing a complete surgery is very difficult, as compared to say breast cancer, where a lumpectomy can be performed to remove not only the tumor, but a healthy rim of tissue around it," explains Dr. Vora.

Surgery for glioblastoma presents a different set of obstacles. "When it comes to glioblastoma, it is challenging to do that level of surgery. You try to surgically remove whatever you can safely without leaving the patient worse off after surgery."

Another factor that makes glioblastoma so lethal is that it can be fast- growing and unresponsive to treatment.

"These cancer cells are quite challenging to overcome," says Dr. Vora. "There are some patients we see after their surgery, and by the time we are ready to start their treatment, they've already had a recurrence of the disease."

An estimated 14,500 people will be diagnosed with glioblastoma in the U.S this year. "In the best of circumstances the average survival rates are in the 14-15 month range. But for patients 65 and older, the group that was the focus of our study, patients do even worse. The prognosis for this population is between six and nine months," says Dr. Vora.

Symptoms of glioblastoma

• Headache
• Nausea and vomiting
• Confusion or decline in brain function
• Memory loss
• Personality changes
• Vision changes
• Speech difficulties
• Trouble with balance
• Muscle weakness
• Seizures

Attacking glioblastoma with a triad

For the clinical trial, Dr. Vora and his team mapped out a plan that would allow them to be more intentional and precise with treating the location of the glioblastoma.

The imaging incorporated the use of ¹⁸F-DOPA PET and contrast-enhanced MRI. "¹⁸F-DOPA PET is an amino acid tracer that can cross the blood brain barrier, and it can accumulate within the glioblastoma cells itself," says Dr. Vora.

Researchers combined these images to determine the location of the most metabolically active "hot spots" of the cancer in the brain.

Taking aim with proton beam therapy

Study investigators used one of the most advanced forms of radiation treatment, called proton beam therapy.

"With standard radiation, the beams go through the brain tissue, so there's an entrance dose and the exit dose. But with proton beam therapy, we dial up how deeply we want the radiation to go," explains Dr. Vora. "It drops off its energy in the tumor, and then there's basically no radiation after that. It allows us to be more preferential into the delivery of radiation and protect more of the healthy surrounding tissue."

During proton beam therapy, a patient lies on a table while the machine rotates around the patient's head targeting the tumor with an invisible beam. The patient is awake for the procedure. It is painless with many patients reporting fewer to no side effects.

Unlike traditional radiation for glioblastoma, which is typically delivered over the course of three to six weeks, treatment with proton beam therapy for the study was conducted in one to two weeks.

"I am hopeful that this is the first step of many where we can continue to move the needle and allow patients to live longer and live well," says Dr. Vora. "The goal is to improve the outcomes for our patients allowing them to spend more time with their families."

Nadya's story

2022 was a tough year for Nadya El-Afandi. She was on the verge of celebrating a long but successful battle with breast cancer.

"Out of the blue, I had a seizure. I went to the hospital, they did an MRI. After additional tests they told me the news: 'You have a glioblastoma,'" recalls Nadya. She asked her doctor if she should continue her breast cancer treatment. "He said, 'No'-meaning the glioblastoma would kill me before the breast cancer."

Nadya was not about to give up.

Nadya is a wife and mother of four children. She lives just outside of Rochester, Minnesota. "My children said to me, 'Mom, you're a unicorn. Of course you'll live.' My mother has had a number of medical conditions and we never expected her to live this long. And she's still alive and with us," says Nadya. "My children have also said, 'You've got grandma's blood in you. You will live.'"

Nadya is receiving care at Mayo Clinic in Rochester. That's where she learned about a new clinical trial called SAGA, or stereotactic ablative radiation treatment for glioblastoma. The phase 2 clinical trial is building upon Dr. Vora's research and studying a larger group of patients. The study is being led by Dr. William Breen, radiation oncologist at Mayo Clinic in Rochester.

It has been 15 months since Nadya began treatment for glioblastoma. So far, there is no sign the glioblastoma has returned. "Nadya has already exceeded the time that's expected time to have a tumor recurrence, and she continues to do well," says Dr. Breen. "Nadya is beyond some measures of what the average, overall survival time would be."

While Nadya's progress in encouraging, Dr. Breen says it is important to note that it is too early to draw any conclusions about safety or efficacy of this approach to treatment until the study is completed.

Meanwhile, Nadya is focused on living her life to the fullest. Fifteen months after undergoing treatment, Nadya embarked on an adventure to Hawaii, where she spent time taking helicopter tours, snorkeling and hiking.

Related articles

• Breakthrough in treatment approach showing promise in the fight against glioblastoma, the deadliest and most aggressive type of brain cancer
• (VIDEO) Focus on hope: Brescia’s Story
• All-Star pitcher Liam Hendriks shares how he closed out cancer at Mayo Clinic in Arizona
• Cancer is tough. Evelyn Owens is tougher
• https://cancerblog.mayoclinic.org/2021/12/21/glioblastoma-in-older-adults-improving-survival-and-quality-of-life/
• https://cancerblog.mayoclinic.org/2024/05/15/technology-clinical-trials-offer-hope-after-glioma-diagnosis/

The post (VIDEO) Breakthrough in the fight against glioblastoma appeared first on Mayo Clinic News Network.