Precision medicine is rapidly transforming modern healthcare. It's a personalized approach that tailors prevention and treatment to each individual — moving beyond the traditional one-size-fits-all model.

Colorectal cancer is one area where precision medicine is reshaping the standard of care for patients like Eric Minnesota. 

At 56, Eric was training for an Ironman triathlon when he got a devastating diagnosis — stage 3 colorectal cancer. 

Eric is sharing his inspiring story to raise awareness for National Colorectal Cancer Awareness Month.

Watch: Transforming colon cancer care through precision medicine

Journalists: Broadcast-quality video (3:10) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic" – Read the script.

Man on a mission

Eric has been an athlete his whole life. He's a soft-spoken man with a gentle demeanor and a never-give-up attitude that defines everything he does. "I've competitively raced mountain bikes for the last 20 years," says Eric. "I'm an outdoors person...hiking, fishing, camping, anything outdoors is what I really enjoy."

Eric's dream has long been to compete in an Ironman triathlon, one of the toughest endurance events in the world. Competitors must complete a 2.4-mile swim, a 112-mile bike ride, and a 26.2-mile run. That's 140.6 miles in one day.

"From a health point of view, I thought I was nearly at the top of my game based on my age," says the Arizona man. "I've been healthy my whole life — no surgeries, no broken bones...I've never taken a sick day from work in my 25-year career."

Toughest challenge yet

Eric was in the midst of training for Ironman Arizona. All was going as planned. Then one day, Eric began having stomach pain. He went to his doctor who delivered a diagnosis Eric never expected.

"He discovered a significant mass. He relayed to me that I should see a colorectal surgeon as soon as possible to have it evaluated and find out what the next steps should be," recalls Eric. Soon after, Eric got his official diagnosis — stage 3 colorectal cancer.

"The plan was to remove my colon and replace it with an ostomy," says Eric. An ostomy is a surgically created opening in the abdomen that allows waste to exit the body into a bag. It may be needed after colon surgery so the body can eliminate waste.

In preparation for surgery, Eric and his wife, Paula, turned to Mayo Clinic in Arizona. "The doctor at Mayo said a team of specialists would convene as a group to review my case. Mayo was quicker than I ever imagined. The following week they called me to discuss my treatment plan," says Eric.

Hope through innovation

Mayo Clinic's treatment plan included more than surgery as an option. The team explained that by using precision medicine, they were able to determine Eric was a candidate for a nonsurgical approach to treatment called immunotherapy.

"By performing genomic sequencing on the patient's blood and the tumor, we were able to identify a precision treatment approach, including immune therapies, that can sometimes allow a patient to avoid the need for complex and life-altering surgeries," says Dr. Jewel Samadder, a gastroenterologist and cancer geneticist with Mayo Clinic's Early Onset and Hereditary Gastrointestinal Cancers Program.

Immunotherapy works by using the body's own immune system to fight the cancer. The nonsurgical treatment is delivered in a series of treatments by IV infusion. "The treatment is surprisingly easy. To be truthful I feel guilty based on the type of treatment that I had for my cancer versus what other individuals go through. It's just a simple infusion that takes less than an hour start to finish," explains Eric.

Crossing the finish line

Eric crossed the finish line of his immunotherapy treatment in six months. The results were a success. A colonoscopy following treatment showed the cancer was gone. "I won the lottery," says Eric. "The stars aligned with my markers and the care team had the expertise. It was incredible. It was all a perfect fit."

"This is a perfect example of why patients come to Mayo Clinic and see multiple physicians in our multidisciplinary cancer clinics and our early-onset program so that we can understand the cause of their cancer, determine the best treatment approaches, including clinical trials, and sometimes avoid complicated life-altering surgeries when possible, as in this patient's case," says Dr. Samadder.

"As soon as we heard about immunotherapy, we had to try it. This aligned with his goals. I'm just over the moon," says Paula.

Eric was able to keep working and training throughout his treatment. He says his only side effect was mild fatigue. "We spent a lot of time together as a family. Just being able to maintain that quality of life through the treatment was irreplaceable. You just can't put a price on that," says Eric.

"We are so grateful to everyone at Mayo Clinic, especially our oncologist Dr. Christina Wu," says Paula. "I would be lost without her. Thanks to Dr. Wu, I have my husband here with me today."

Celebrating life and love

Eric is back to working on his dream of one day becoming an Ironman triathlete. "Giving up is never an option," says Eric. "You have to turn on the switch, and keep going."

As Eric and Paula celebrate life, they are also celebrating their love. "We just had our 32nd wedding anniversary. These moments, these struggles together, it all has just made us stronger." says Eric. "I'm grateful for Mayo, for everything. I came out a better person."

Related stories

• Eric and Paula Minnesota with a special message to Mayo Clinic
• Mayo Clinic Minute: Inside a colonoscopy
• Housecall: Colon cancer screening — know your options
• Mayo Clinic Minute: Warning signs of colorectal cancer in younger adults

The post (VIDEO) Transforming colon cancer care through precision medicine appeared first on Mayo Clinic News Network.

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.

Evenings in the Staal household often carried a delicate unpredictability. After a full school day — and as Ethan's medication began to wear off — the shift from playful to overwhelmed could happen in seconds. Ethan has attention-deficit/hyperactivity disorder (ADHD), a condition that can make emotional regulation especially challenging.  

Ethan's feelings sometimes escalated faster than he could manage. In those difficult moments, his parents say, he became "not accessible" — often needing close to an hour before they could help guide him back to calm. 

Their search for specialized care led them to Mayo Clinic, where child and adolescent psychiatrist Magdalena Romanowicz, M.D., introduced the family to Parent-Child Interaction Therapy. She also invited them to participate in a first-of-its-kind study powered by a smartwatch and artificial intelligence (AI). 

The smartwatch technology was designed to help anticipate when a child was nearing emotional overload, giving parents a chance to step in and defuse the situation before it escalated. For the Staals, the technology offered a clear sense of what was happening inside Ethan just early enough to help him through it. 

"It was a game-changer," Jared Staal says. "We still have challenges, but now we see them coming and we see them through a whole different lens — we didn't always know how to support him in those moments, and now we do." 

A window into the moments before escalation

During the four-month study, Ethan wore a smartwatch that tracked his heart rate, movement and sleep. When the system detected patterns that suggested his stress was building, it sent an alert to Sarah or Jared's phone. 

"It gave us a warning that something was coming," Sarah says. Instead of reacting at the peak of Ethan's distress, they could intervene earlier with calm reassurance, redirection and other techniques they learned in their 12 Parent-Child Interaction Therapy sessions. 

"We could help him recover in 5 to 10 minutes," she says. "And we could have our evenings again as a family." 

What the study revealed 

The Staals' experience reflects the study's overall findings. In the clinical trial, smartwatch alerts prompted parents to respond within four seconds on average to early signs of escalating stress. Their children's severe tantrums were shortened by about 11 minutes — roughly half the duration seen with standard therapy alone. 

The broader context underscores the need for new approaches. Nearly 1 in 5 U.S. children lives with a mental, behavioral or emotional health disorder, yet the number of pediatric mental health specialists has not kept pace with demand. Smartwatch technology represents one possible way to extend support into the home by helping families recognize early changes in a child's stress levels. 

Across a shared wall 

The technology behind the alerts emerged from an unexpected spark. 

Electrical and computer engineer Arjun Athreya, Ph.D., worked just steps from the Children's Hospital Psychiatry Unit at Mayo Clinic — a single shared wall separating his world of algorithms and data from the clinical rooms where children and their families experienced some of their hardest moments.  

Passing conversations with the psychiatrists next door became more formal collaborations as the team began to ask: What happens inside a child's body in the minutes before an outburst? And could those invisible shifts be measured? 

With support from Julia Shekunov, M.D., Medical Director of the inpatient unit, and help from the nursing staff, the team launched a small pilot to explore those questions. 
 
From that work, Dr. Athreya and his team developed an AI model designed to recognize the earliest physiological changes that precede escalating behavior. That work became the foundation for the smartwatch system now being explored with families. 

A family's early role in the research 

One of the first families to try out the smartwatch system was Sawra and Matthew Maurer and their son, Theo.  

For the Maurers, the challenges with Theo were mounting. Calls from kindergarten had become a near-weekly routine: "Theo is having a hard time. Could you come get him?" Around that same time, Theo was diagnosed with ADHD, which helped explain the emotional dysregulation and sudden behavioral shifts they were seeing.  

Theo could slide from being engaged in an activity to overwhelmed in an instant — sweeping crayons off tables or having severe tantrums that sometimes required teachers to guide classmates out of the room. "It was a very difficult year," Sawra recalls. 

Enrolling in the early smartwatch feasibility study gave her new insight.  

During the study, Theo wore a watch each day that collected his physiological data — heart rate, movement, sleep patterns — while the family logged episodes in an AI-powered app. 

That data helped researchers understand what Theo's body was doing in the moments before he became dysregulated. By matching those physiological signals with what was happening behaviorally, the team could begin identifying the subtle shifts that happen as a child moves from calm toward distress and then back to calm. 

Theo's data helped teach the system what those early changes look like in real-world settings. 

Sawra didn't receive alerts in that early phase, but she could see the information the watch recorded. "The idea is wonderful," she says. "Being able to detect when a child is heading toward a severe tantrum would be a phenomenal thing for a parent." 

Moving the research forward

Future studies will focus on improving the model, testing the system in larger groups and examining how real-time physiological data can inform care outside the clinic. As that work continues, the experiences of families like the Staals and the Maurers will help guide how the technology evolves and how it can support children in everyday life. 

Related article

Mayo Clinic smartwatch system helps parents shorten, defuse children’s severe tantrums early

Mayo Clinic researchers have developed a smartwatch-based alert system that signals parents at the earliest signs of a tantrum in children with emotional and behavioral disorders — prompting them to intervene before it intensifies. Read more.

The post Families at Mayo Clinic explore how a smartwatch can give early warnings of severe tantrums  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.

ROCHESTER, Minn. — Mayo Clinic researchers have developed a smartwatch-based alert system that signals parents at the earliest signs of a tantrum in children with emotional and behavioral disorders — prompting them to intervene before it intensifies.  

In a new study published in JAMA Network Open, these alerts helped parents intervene within four seconds and shortened severe tantrums by an average of 11 minutes — about half the duration seen with standard therapy.  

In this system, a smartwatch worn by the child detects physiological stress signals, such as rising heart rate, or changes in movement or sleep, and sends them to an artificial intelligence (AI)-enabled app on the parent's smartphone. The app analyzes the data in real time and sends an alert as a cue for the parent to connect with their child. 

The findings demonstrate how smartwatch technology can help bridge a gap in pediatric mental healthcare by giving parents actionable support when professional help isn't immediately available. That need is widespread — nearly 1 in 5 U.S. children has a mental, behavioral or emotional health disorder, according to the Centers for Disease Control and Prevention.  

The approach shows how wearable technology, paired with patient-centric AI design, can support families beyond the clinic. 

Study design and results 

In the randomized clinical trial, 50 children aged 3 to 7 receiving Parent-Child Interaction Therapy at Mayo Clinic participated over 16 weeks. Half were assigned to use the smartwatch system, and half continued standard therapy. The study evaluated whether families would use the technology as intended and whether immediate alerts could measurably change parent response times and children's behavior. 

Notably, children wore the smartwatch for about 75% of the study period, demonstrating feasibility and family engagement. 

"This study shows that even small, well-timed interventions can change the trajectory of a child's emotional dysregulation episode," says Magdalena Romanowicz, M.D., a Mayo Clinic child psychiatrist who co-led the study. "These moments give parents a chance to step in with supportive actions — moving closer, offering reassurance, labeling emotions and redirecting attention before a tantrum intensifies." 

Building on earlier research 

This work builds on the team's earlier study, which used a machine learning algorithm to analyze smartwatch data — including heart rate, sleep and movement — to predict disruptive behaviors in hospitalized children receiving psychiatric care. 

That study, published in the Journal of Child and Adolescent Psychopharmacology, showed the algorithm could predict a child's behavioral state with 81% accuracy and provided a 30- to 60-minute advance warning of an impending outburst. 

"This work shows how basic science and clinical research can come together to transform patient care," says Arjun Athreya, Ph.D., who co-led the study and serves on the engineering faculty in Mayo Clinic's Department of Molecular Pharmacology and Experimental Therapeutics. "We've translated inpatient findings to outpatient care, and the results show how data from everyday smart devices can help families in real time." 

Empowering families with data-driven care 

Paul Croarkin, D.O., a Mayo Clinic child and adolescent psychiatrist and study co-author, says the findings highlight the power of data-driven care. "A smartwatch may seem simple, but when it's backed by evidence-based treatments and advanced analytics, it becomes a lifeline for families trying to manage severe behavioral symptoms at home."  

Julia Shekunov, M.D., medical director of Mayo Clinic's Child and Adolescent Psychiatry Inpatient Unit and also a study co-author, says the work addresses an urgent need. "We're seeing more children in crisis, and the severity is increasing. This system gives parents tools they can use immediately, even outside the clinic, to help their child regain control." 

Next steps 

Future studies will refine the system's predictive accuracy, test it in larger groups and assess its long-term benefits in routine outpatient care. 

This study was funded in part by a Mayo Clinic Clinical Trial Stimulus Fund and Mayo Clinic's Center for Individualized Medicine. 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 Mayo Clinic smartwatch system helps parents shorten and defuse children’s severe tantrums early  appeared first on Mayo Clinic News Network.

As you gather around the table this Thanksgiving to share meals, stories and traditions, consider taking a moment to talk about something that could save lives: your family's health history.  

Mayo Clinic experts are encouraging families to use the holiday to identify these risks and take proactive steps toward prevention. 

"Hereditary conditions range from autoimmune disorders like celiac disease to cancers tied to genetic mutations," says Joseph Murray, M.D., a gastroenterologist at Mayo Clinic with over 30 years of expertise in treating complex digestive diseases. "Thanksgiving provides a unique opportunity to notice these patterns in your family's health and start conversations that could benefit generations to come." 

Hereditary links to digestive conditions

Two conditions Dr. Murray highlights, celiac disease and eosinophilic esophagitis, can have hereditary components but are not always linked to family history.

"Food is central to Thanksgiving, so it's a perfect time to notice who's avoiding certain dishes," Dr. Murray says. "If someone skips bread or mentions swallowing difficulties, it could point to something hereditary." 

Celiac disease, an autoimmune condition triggered by gluten, can cause symptoms like diarrhea, abdominal pain, bloating, weight loss, anemia, fatigue, skin rashes, mouth ulcers and joint pain. It can be diagnosed at any age and presents in over 300 ways, making testing crucial — especially for those with close relatives at higher risk. 

"For siblings, the risk is as high as 20%," Dr. Murray says. "Accurate diagnosis is key, because eliminating gluten without testing can mask other health issues, such as irritable bowel syndrome or lactose intolerance, and delay treatment." 

Dr. Murray says eosinophilic esophagitis is another condition to be aware of. It involves inflammation of the esophagus that leads to difficulty swallowing or food impaction. In children, symptoms can include vomiting, avoiding certain foods or difficulty gaining weight. In adults, it typically presents as difficulty swallowing or the sensation of food getting stuck, which can sometimes require emergency medical attention. Available treatment options include anti-inflammatory medications and immune-targeted therapies. 

Turning genomics into action

Family health history also plays a vital role in cancer and heart disease prevention, says John Presutti, D.O., a family medicine physician and the Cecilia and Dan Carmichael Family Associate Director for the Center for Individualized Medicine at Mayo Clinic in Florida. In his dual role, Dr. Presutti combines his expertise in primary care with advances in genomics to help patients uncover hereditary risks and take proactive steps. 

Dr. Presutti also leads Mayo Clinic's pilot program integrating genomic data into clinical care. This initiative offers genomic screening for actionable genetic markers associated with hereditary breast and ovarian cancer syndrome, Lynch syndrome and familial hypercholesterolemia. These markers can inform preemptive interventions and allow for personalized care. 

"Approximately 10% of cancers are inherited," Dr. Presutti says. "Uncovering hidden genetic mutations through family discussions allows us to screen patients earlier and potentially save lives." 

Hereditary breast and ovarian cancer syndrome is linked to mutations in the BRCA1 and BRCA2 genes. Mutations in BRCA1 can lead to a 60% lifetime risk of developing breast cancer and a 40% risk of having ovarian cancer, among other cancers. BRCA2 mutations increase the risk of developing breast cancer to 50% and ovarian cancer to 20%, with additional risks for prostate and pancreatic cancers in males.  

Lynch syndrome is associated with an 80% lifetime risk of developing colorectal cancer and 50% risk of uterine/endometrial cancer. Familial hypercholesterolemia, a genetic disorder that causes dangerously high cholesterol levels, significantly increases the risk of early heart disease and stroke if left untreated. 

 Dr. Presutti encourages families to ask questions such as: 

• Have any family members had cancer or heart disease? 
• At what age were they diagnosed? 
• Are there patterns of chronic illnesses or early deaths in the family? 
  

Detecting early-onset GI cancers

For younger people, family health history can be especially important as rates of gastrointestinal (GI) cancers are on the rise among people under age 55. Mayo Clinic's Early Onset and Hereditary Gastrointestinal Cancers Program aims to address this growing concern, says Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and cancer geneticist. 

"The rise in young-onset gastrointestinal cancers is a pressing health issue," Dr. Samadder says. "Our goal is to put patients at the center of a collaborative framework of experts working seamlessly together." 

Launched in 2024, the program integrates gastroenterology, oncology, surgery, pathology and genetics to provide comprehensive, patient-centered care. Translational discoveries, such as immunology studies and a multi-omics approach, are also part of the program, helping to tailor treatments to a patient's unique biological profile. 

"This multidisciplinary approach doesn't just address cancer — it uncovers hereditary risks that can guide care for families," Dr. Samadder explains. "It's about creating a roadmap for prevention and better outcomes." 

A tradition that saves lives 

If you discover something significant about your family health history this Thanksgiving, take action: 

• Talk to your primary care provider about screening or preventive measures. 
• Encourage family members to discuss shared health risks with their doctors. 
• Learn about lifestyle changes or early interventions that could lower your risk.
• Stay proactive by keeping your health records updated and sharing them with relatives. 

"Don't just talk about your family health history," Dr. Presutti says. "Act on it. It could save your life." 

The post Why Thanksgiving is the perfect time to share family health history  appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — Mayo Clinic researchers have developed a new, personalized approach to deep brain stimulation (DBS) for people with drug-resistant epilepsy. By mapping each patient's unique brain wave patterns, the method allows physicians to target the precise area in the brain where stimulation is most effective, moving beyond the traditional one-size-fits-all approach.

DBS involves implanting electrodes in the brain to deliver electrical pulses that help prevent and control seizures. While effective, DBS is typically administered with electrodes placed in the same brain region across most patients. Mayo Clinic physician-scientists are now tailoring the treatment to an individual's seizure network before DBS placement.

"Our unique approach aims to tailor neuromodulation for each patient," says Nick Gregg, M.D., a Mayo Clinic neurologist and lead author of a paper published in the Annals of Neurology. "We're moving away from one-size-fits-all to an individualized approach that maximizes seizure network engagement to better modulate abnormal brain wave activity."

Once researchers identify the specific area in the thalamus — a small relay hub deep within the brain — that connects to a patient's seizure network, they can fine-tune stimulation settings for that individual. Because seizures occur infrequently, clinicians analyze erratic brain wave patterns that signal abnormal activity.

"We're trying to disrupt the pathological hypersynchrony and reduce network excitability to lower seizure risk," says Dr. Gregg.

Ten patients received this personalized approach while being evaluated for epilepsy surgery. The next phase of research will follow those who have since received permanent DBS implants using this personalized approach.

"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."

This research is part of Mayo Clinic's Bioelectronics Neuromodulation Innovation to Cure (BIONIC) initiative, which unites clinical insight with cutting-edge engineering to deliver novel diagnostics and therapies. Through intellectual property development, strategic partnerships and patient-centered trials, BIONIC transforms innovation into impact — advancing care for complex neurological conditions.

Dr. Gregg's research was supported by the Tianqiao & Chrissy Chen Institute. Review the study for a complete list of authors, disclosures and funding.

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

Media contact:

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

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PHOENIX — Current genetic screening guidelines fail to identify most people with an inherited condition known as familial hypercholesterolemia that can cause dangerously high cholesterol and early heart disease, a Mayo Clinic study found. 

The condition often passes silently through families for generations. It is highly treatable, yet people who remain undiagnosed are at greater risk for heart attacks and strokes. 

Cardiovascular disease remains the leading cause of death in the United States, affecting millions of adults each year. It includes conditions such as coronary artery disease, heart failure and stroke. One of its key risk factors is high cholesterol. 

The study, published in Circulation: Genomic and Precision Medicine, suggests that routine screening could identify the majority of people with the inherited condition and, ultimately, save lives. 

Study reveals missed diagnoses 

Researchers found that nearly 90% of those with familial hypercholesterolemia would not have been flagged for standard genetic testing and were unaware they had the condition until DNA testing in a Mayo Clinic population-based research study identified them. About 1 in 5 had already developed coronary artery disease. 

"Our findings expose a blind spot in current national guidelines, which rely on cholesterol levels and family history to determine who should receive genetic testing," says Niloy Jewel Samadder, M.D., lead author and a Mayo Clinic gastroenterologist and cancer geneticist at the Mayo Clinic Comprehensive Cancer Center. "If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives." 

Familial hypercholesterolemia is one of the most common genetic conditions, affecting an estimated 1 in 200 to 250 people worldwide. It causes very high levels of low-density lipoprotein (LDL) cholesterol — the "bad" cholesterol — from birth.  

"Our findings expose a blind spot in current national guidelines, which rely on cholesterol levels and family history to determine who should receive genetic testing. If we can find those at risk of cardiovascular disease early, we can treat it early and change its course and likely save lives." 

The study analyzed data from exome sequencing, a form of genetic testing that reads the protein-coding regions of the genome — where most disease-causing variants are found. The research included more than 84,000 participants across Mayo Clinic sites in Arizona, Florida and Minnesota through the Tapestry DNA research study, part of the institution's effort to integrate genomics into everyday patient care.  

The research team identified 419 people with genetic variants known to cause familial hypercholesterolemia. They found that nearly 75% of those individuals would not have met current clinical criteria for genetic testing based on their cholesterol levels or family history. This represents a missed opportunity for disease prevention.  

Integrating genetics into preventive care 

Dr. Samadder says the next step is to bring genetic screening into routine care to identify high-risk patients earlier and start treatment sooner. 

The work is part of Mayo Clinic's Precure strategic priority, which aims to predict and prevent serious diseases before they advance. Through innovative technologies and population-based studies, Precure is designed to bring prevention-focused care directly to patients sooner.  

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 Most people with a genetic condition that causes significantly high cholesterol go undiagnosed, Mayo Clinic study finds   appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — At Mayo Clinic, cardiologists Peter Noseworthy, M.D., and John Giudicessi, M.D., Ph.D., are uncovering the earliest signs of a genetic heart condition that often strikes without warning. Their work shows that early detection, and even prevention, may be possible long before symptoms appear. 

The condition, arrhythmogenic right ventricular cardiomyopathy, weakens the molecules that hold heart cells together. As those bonds deteriorate, healthy muscle is replaced with scar tissue and fat, leaving the heart weaker.  

The disease often advances silently. Sometimes the first sign is when a person suddenly collapses during exercise. For many, a diagnosis comes only after the heart is already damaged. Detecting it earlier could spare patients from heart failure, the need for a transplant or sudden death. 

"We spend so much time managing the consequences of this disease — ablations, transplants, repeated hospitalizations. It's a much better paradigm to ask: What can we do to prevent this in the first place?" 

"We spend so much time managing the consequences of this disease — ablations, transplants, repeated hospitalizations," Dr. Noseworthy says. "It's a much better paradigm to ask: What can we do to prevent this in the first place?" 

Leading a new era of heart care 

Dr. Noseworthy leads Mayo Clinic's Division of Heart Rhythm Services, where he cares for patients with heart rhythm disorders and helps guide innovation strategies across the institution. Much of his research centers on using digital tools and artificial intelligence (AI) to detect problems earlier and improve patient care. 

Dr. Giudicessi, a genetic cardiologist, focuses on inherited heart rhythm conditions and how genetic changes influence who develops disease. His work bridges patient care and laboratory research, including first-in-human clinical trials that explore the potential of gene therapy. 

Together, they turned to two powerful data sources: the genetic code that shapes the heart and the electrical signals that guide its rhythm. 

"So much of medicine is reactionary — we wait for something bad to happen. This work is ushering in the tools to push against disease and to identify it early." 

Pinpointing risk in genes and rhythm  

Their search for answers started in Mayo Clinic's new Research Data Atlas, which unites decades of genetic, clinical and biospecimen data. Within it, they identified people carrying disease-causing mutations in PKP2, the gene most often linked to this disease.  

About 1 in 2,000 people carry a mutation in the PKP2 gene, but many never develop the disease. The challenge is knowing who will — and stepping in early enough to change the outcome. That question drives Dr. Giudicessi's work. 

"So much of medicine is reactionary — we wait for something bad to happen," Dr. Giudicessi says. "This work is ushering in the tools to push against disease and to identify it early." 

To spot those early rhythm changes, the team drew on an AI model developed by Mayo Clinic cardiologist Ammar Killu, M.B.B.S., and his team.  

Analyzing electrocardiograms from patients with a PKP2 mutation, the AI helped the researchers identify faint patterns that marked the first signs of disease.  

"This research shows how AI can help us identify really subtle changes that may facilitate earlier diagnosis and then allow us to move beyond individual cases to understand patterns across populations."

"This research shows how AI can help us identify really subtle changes that may facilitate earlier diagnosis and then allow us to move beyond individual cases to understand patterns across populations," Dr. Killu says. "It's a powerful example of how we can scale early detection to reach more patients before disease takes hold." 

Those insights led to a next step. Guided by the AI findings, Dr. Noseworthy and Dr. Giudicessi provided smartwatches to people who were showing early signs of disease. The devices help track daily activity levels — important data, since strenuous exercise can accelerate the disease, while even small adjustments may help slow it. 

The researchers are also exploring gene therapy for PKP2. Still in early testing, the approach may one day restore the missing gene and keep the disease from advancing. 

Building medicine's next chapter 

Their work is part of a larger shift at Mayo Clinic: predicting and preventing disease before it takes hold. That vision drives Precure, an initiative to intercept serious conditions early enough to alter their course. With tools like the Research Data Atlas, investigators can study health patterns across large populations, detect risk sooner and potentially guide people to care before disease advances. 

For Dr. Noseworthy, Dr. Giudicessi and Dr. Killu, the vision is bigger than a single study. They are helping build the infrastructure to move medicine earlier in the course of disease, where illness can be intercepted at scale. 

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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 Mayo Clinic researchers use AI and genetics to identify early signs of a rare, life-threatening heart condition appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — A genomic test co-developed by Mayo Clinic and SkylineDx can identify whether people with melanoma are at low or high risk for cancer in their lymph nodes — a finding that could guide treatment decisions and help some people avoid lymph node biopsy surgery. The study results are published in JAMA Surgery.

In the largest prospective study of its kind, about 93% of people classified as low risk had no cancer in their lymph nodes, while about 25% in the high-risk group did. The multicenter clinical trial enrolled 1,761 people with early- or intermediate-stage melanoma at nine U.S. cancer centers between 2021 and 2024. 

Decoding the tumor’s genomic blueprint

The test measures the activity of eight genes in a melanoma tumor and combines that data with a person's age and tumor thickness to estimate the chance that cancer has reached the lymph nodes. The Merlin CP-GEP Test analyzes tissue from the tumor already collected during an initial biopsy, so no additional procedure or visit is required for the test.

Sentinel lymph node biopsy is performed under anesthesia to remove one or a few lymph nodes and check for microscopic cancer. The procedure usually requires a second incision and can have side effects, yet nearly 80% of people who undergo the surgery have no cancer in their lymph nodes.

"Surgery will always be central to cancer care, but this study shows that sentinel lymph node surgery might be avoided for selected patients with melanoma," says first author Tina Hieken, M.D., a surgical oncologist at the Mayo Clinic Comprehensive Cancer Center and co-principal investigator of the study. "This test lets us use a patient's own tumor biology to guide care with true precision."

Turning molecular insight into clinical impact

Melanoma is the deadliest form of skin cancer. While early-stage disease can often be treated successfully, once melanoma spreads to the lymph nodes, the risk of recurrence increases. Determining whether the cancer has reached the lymph nodes is a key step in guiding treatment.

"Melanoma progression is driven by subtle molecular processes that we're only beginning to understand," says Alexander Meves, M.D., a dermatologist at the Mayo Clinic Comprehensive Cancer Center who led earlier validation studies of the test. "This work translates that biology into tools that can improve care."

Researchers are now studying how incorporating the test into melanoma care might help healthcare professionals understand the risk of recurrence and guide follow-up care.

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

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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.

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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