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

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PHOENIX, Ariz. — Mayo Clinic surgeons recently performed 10 organ transplants within 24 hours, setting a record for both the hospital and the state of Arizona.

On Nov. 19, Mayo Clinic teams worked around the clock to complete seven kidney transplants and three liver transplants. Transplant center colleagues rose to the challenge with one goal in mind: Saving as many lives as possible, says Bashar Aqel, M.D., director of Mayo Clinic Transplant Center in Arizona.

"Ten people received a second chance at life in a single day," Dr. Aqel says. "This milestone would not have been possible without the generous gift of organ donation, advances in technology and the dedication of our highly specialized team."

Heading into the record-setting day, three living-donor kidney transplants were already scheduled. But by evening, the team realized the magnitude of the day ahead of them as precious organs continued to become available. Organ perfusion devices proved critical, enabling the livers and some of the kidneys to be kept viable outside the donor's body for a longer period of time prior to transplant. The team also had to overcome logistical hurdles, ensuring enough operating room space was available to perform all the surgeries.

"Every day, an estimated 17 people die waiting for an organ transplant," Dr. Aqel says. "We are doing what we can to try to reverse that trend with innovation and organ perfusion to save more lives."

John Churan is among the 10 patients celebrating a second chance — one he never thought he would get. He was diagnosed with multiple myeloma 16 years ago, and when his kidney began to fail in 2020, his diagnosis appeared grim. But thanks to a stem cell treatment at Mayo Clinic, he went into full remission from the cancer, and he was eligible for a kidney transplant. His wife of 36 years, Julia Churan, stepped forward to donate her kidney and was a match.

"I would not be here without Mayo Clinic," John Churan says. "I am so grateful for the care I have received and the incredible gift my wife has given me."

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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:

• Heather Carlson Kehren, Mayo Clinic Communications, newsbureau@mayo.edu

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On Dec. 18, 2023, the world went silent for Thomas Campbell. The active and vibrant 70-year-old lost his hearing in his left ear when he was 33 years old. And without much warning, on that December day, his hearing went out in his right ear, leaving him completely unable to hear.

When other medical centers couldn't help, Thomas turned to Mayo Clinic for answers. Dr. Nicholas Deep, a Mayo Clinic otolaryngologist, had a plan. 

Watch: Hope, healing, hearing: How a cochlear implant helps a man hear again

Journalists: Broadcast-quality video (2:40) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

In an instant, Thomas feared he would never hear the laughter of his grandkids again.

"I started getting this weird, you know, weird kind of weird noises, and hearing just subsided. And then, they just went out," says Thomas.

Thomas lost hearing in his left ear nearly 40 years ago, likely from exposure to loud industrial noises. Now, suddenly, the hearing in his right ear was gone.

"All kinds of things are just flashing through your mind — you know, got grandkids, can't hear anything. How am I going to get around? How am I going to communicate? You know, it's just, it's just … it's pretty, uh, pretty emotional," he shares.

After seeing multiple doctors who couldn't help, Thomas turned to Mayo Clinic and Dr. Deep.

"This is a person who was getting by with one ear — very busy running a business — that all of a sudden was sidelined by complete, profound, bilateral hearing loss. We treat hearing loss, sudden hearing loss, as an ENT, as an emergency. And so, of course, we got him right in. We got him a hearing test, confirmed the hearing loss and started working to rehabilitate his right ear," Dr. Deep says.

But rehabilitating that ear would take time. And Dr. Deep had another idea.

"His left ear has been deaf for over 35 years, and so I brought up the conversation of a cochlear implant," says Dr. Deep. "Those nerve synapses and connections between that ear and the brain, although they haven't been stimulated in many years, they can be revived, and so I felt confident that we could certainly get him back online." 

The surgery itself was less than an hour.

"The cochlear implant has two components: an internal component that we place the time of surgery, and the external component, which is the microphone. That's sort of like a hearing aid, but it sticks on by a magnet," Dr. Deep says.

Implanting the cochlear device was one step. Next was programming the device.

"An audiologist's job is to make the implant work. So we are actually determining what sound is sent through the implant to get the patient hearing optimally," shares Dr. Courtney Kolberg, a Mayo Clinic audiologist who worked with Thomas to program the implant.

She says success for patients is about collaboration.

"The patient journey is really a journey that we take together," Dr. Kolberg says.

And for Thomas, it's been quite the journey.

"I can't say enough about it — about the implant, the doctor — about Mayo Clinic. That's just been unbelievable. Hearing grandkids again … pretty incredible," says Thomas.

Thomas continues to work with Dr. Deep and team to help restore his full hearing. He will have surgery soon to have a second cochlear device implanted.

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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.

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• 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.

PHOENIX — Mayo Clinic announces the results of an innovative treatment approach that may offer improvement in overall survival in older patients with newly diagnosed glioblastoma while maintaining quality of life. Glioblastoma is the most lethal type of primary brain cancer due to its aggressive nature and its treatment-resistant characteristics. It is the most common form of primary brain cancer. Each year an estimated 14,500 people in the U.S. are diagnosed with the disease. Results of Mayo Clinic's phase 2, single-arm study are published in The Lancet Oncology.  

Sujay Vora, M.D., radiation oncologist at Mayo Clinic, led a team of researchers investigating the use of short-course hypofractionated proton beam therapy incorporating advanced imaging techniques in patients over the age of 65 with newly diagnosed World Health Organization (WHO) grade 4, malignant glioblastoma.

Results showed that 56% of participants were alive after 12 months and the median overall survival was 13.1 months." As compared to prior phase 3 studies in an older population having a median survival of only six to nine months, these results are promising," says Dr. Vora. "In some cases, patients with tumors that have favorable genetics lived even longer, with a median survival of 22 months. We are very excited about these results."

Glioblastoma is among the most challenging cancers to treat. The disease invades healthy brain tissue with hairlike tentacles, making surgical removal intricate. Surgeons must carefully balance removing as much of the tumor as possible while avoiding harm to critical areas of the brain responsible for essential functions such as movement and speech. Additionally, the tumor's cellular composition and its ability to evade therapies further challenge treatment efforts.

Standard radiation therapy is commonly used to treat glioblastoma and can be effective. However, a limitation is that it also exposes healthy brain tissue to radiation, potentially causing collateral, unintended damage. For the Mayo Clinic study, investigators used one of the most innovative and advanced forms of radiation treatment, called proton beam therapy. The cutting-edge, nonsurgical form of radiation therapy destroys cancer cells with targeted precision while minimizing side effects to surrounding healthy tissue.

Mayo investigators mapped the target area in the patient's brain by combining the advanced imaging technologies, including ¹⁸F-DOPA PET and contrast-enhanced MRI. "Combining advanced imaging allowed us to determine the most metabolically active, or aggressive, regions of the glioblastoma," says Dr. Vora.

Treatment was completed in one to two weeks instead of the traditional three to six weeks. "The advanced imaging along with the proton beam therapy allowed us to be more focused with radiation and protect surrounding healthy brain tissue from the effects of radiation. We were able to see that patients tolerated the treatments well and lived longer than we expected."

According to Dr. Vora, the study at Mayo Clinic is the first clinical trial of its kind investigating the use of short-course hypofractionated proton beam therapy incorporating advanced imaging technology, including ¹⁸F-DOPA PET and contrast-enhanced MRI targeting, for patients 65 and older with newly diagnosed glioblastoma.

The study included patients from Arizona and Minnesota. One of the study participants, Richard Casper, lived nearly two years longer than his prognosis. "I feel great. If someone didn't tell me I had the glioblastoma, I wouldn't even know it," reported Casper after undergoing treatment. He succumbed to the disease in 2023. "We miss our dad dearly," says his daughter, Susan Casper. "We will forever be grateful for the extra time we had with our father. The time gave us a chance to make memories that will last us a lifetime. It was also important to my father to participate in this study in hopes of helping others fight glioblastoma."

A larger, randomized clinical trial is now underway at Mayo Clinic. One of the study participants is Nadya El-Afandi, a wife and mother of four, who lives in St. Paul, Minnesota. She was diagnosed with glioblastoma in 2022. El-Afandi is now 15 months post-treatment with no sign of glioblastoma. "I feel wonderful," says El-Afandi. "I've had my fourth MRI, and we're not seeing any return of the glioblastoma."

El-Afandi is back to her regular activities and just returned from a trip to Hawaii, where she spent time snorkeling and hiking. "We are living on the edge of medical miracles, and we are riding that tide. There's no cure for glioblastoma yet, but I've been able to take advantage of this medical opportunity, and it has given me a quality of life that is just outstanding," adds El-Afandi.

While El-Afandi's results are encouraging, William Breen, M.D., radiation oncologist and principal investigator of the current study says it is too early to draw any conclusions about the safety and efficacy of the treatment until the study is complete. "Our goal is to transform the way we treat glioblastoma using shorter courses of radiation to minimize the burden on patients and their families and help them complete safe and effective treatment in a shorter amount of time."

The clinical trial, known as SAGA, or stereotactic ablative radiation treatment for glioblastoma, includes patients from Arizona, Florida and Minnesota. "We are now adding another component that builds upon Dr. Vora's work to help us best visualize the tumor," says Dr. Breen.

Meanwhile El-Afandi is focusing on living her life to the fullest. "I'm so grateful," says El-Afandi. "Every day is the best day, and I'm going to enjoy every minute of it."

The study was funded by The Kemper and Ethel Marley Fund in Cancer Research and the Lawrence W. and Marilyn W. Matteson Fund in Cancer Research. For a detailed list of the authors and disclosures, see the full paper here.

Press kit, including b-roll, photos and interviews, available here.

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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:

• Marty Hames, Mayo Clinic Communications, newsbureau@mayo.edu

Related content:

• (VIDEO) Breakthrough in the fight against glioblastoma
  

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PHOENIX — You may be familiar with a range of tips for living a healthy life: Watch your weight, exercise, eat nutritious food and don’t smoke, for example. What if you could combine these lifestyle factors with a host of other variables to learn your risk of developing specific diseases, to help catch and treat them early or prevent them altogether? Victor Ortega, M.D., Ph.D., associate director for the Mayo Clinic Center for Individualized Medicine in Arizona, explains how science is drawing ever closer to making such personal health forecasts possible.

Previously inconceivable, such personal guides to well-being are becoming increasingly possible because of new and sophisticated genome-wide technologies that capture data spanning entire genomes, Dr. Ortega says. The complex scores are compiled from a combination of data from thousands to hundreds of thousands of a person's DNA sequence variants. This type of large genome-wide data has the potential to predict disease risks, such as heart disease, diabetes, asthma and specific cancers.

"Imagine knowing your genetic predisposition for having a heart attack in your 50s, or if you're in the top 5% of the population for the risk of cancer or diabetes based on data from your whole genome. With this knowledge, you could make informed lifestyle choices and receive enhanced screenings to mitigate that risk," Dr. Ortega says.  

As a pulmonologist and genomic scientist, Dr. Ortega is leading a charge to breathe new life into precision medicine advancements. His mission is rooted in a deep commitment to health equities and inspired by his grandmother. 

"My grandmother died of asthma, and that should not have happened. She was Puerto Rican like me, and Puerto Ricans have the highest severity and frequency of asthma of any ethnic group in the world," Dr. Ortega says. "They also represent less than 1% of people in genetic studies. So, I've made it a life mission to develop cures and diagnostics for people like my grandma, and for all people." 

Each person has millions of genetic variants, each having a small effect. But together, these variants can increase the risk of getting a condition. A polygenic risk score estimates the overall risk someone has of getting a disease by adding up the small effects of variants throughout an individual’s entire genome. 

Polygenic risk scores are not used to diagnose diseases. Some people who don't have a high-risk score for a certain disease still can be at risk of getting the disease or might already have it. Other people with high-risk scores may never get the disease.

People with the same genetic risk can have different outcomes depending on other factors such as lifestyle which determine one’s lifelong environmental exposures, also called the exposome.

Dr. Ortega says that getting to the point where all people know their polygenic risk scores will require a solid foundation of "omics" research and datasets, cutting-edge technologies and further discoveries of gene-disease links — all of which are within his team's expertise and capabilities.

Omics is an emerging multidisciplinary field of biological sciences that encompasses genomics, proteomics, epigenomics, transcriptomics, metabolomics and more.

"It's going to take considerable work and planning, but it really is the way of the future," he says.

In the shorter term, Dr. Ortega plans to transition more omics discoveries from research laboratories to the clinic. Omics data can help identify the molecular culprits driving a person's disease, as well as biomarkers that can lead to the development of targeted treatments and diagnostics.

Recent omics discoveries at Mayo Clinic's Center for Individualized Medicine have enabled scientists to predict antidepressant response in people with depression and discover a potential therapeutic strategy for bone marrow cancer. Scientists have also used omics to pinpoint genetic variations that potentially increase the risk for severe COVID-19, uncover potential clues for preventing and treating gliomas and unravel the genetic mystery of a rare neurodevelopmental disorder.

Drawing from his years of extensive clinical experience in treating patients with severe respiratory illnesses, Dr. Ortega is also working to expand genomic testing to a broader set of diseases. He highlights the center's collaborative Program for Rare and Undiagnosed Diseases as an effective model that he hopes to amplify.

The Program for Rare and Undiagnosed Diseases proactively engages healthcare teams across Mayo's clinical practice to conduct targeted genomic testing for patients with a suspected rare genetic disease. He says expanding this strategy to more diseases will help build collaborations across Mayo and educate more clinicians on genomics. It may also ensure the most effective genomic sequencing tests are given to patients, ultimately improving patient care and outcomes.

Dr. Ortega is leading the development of a polygenic risk score framework for Mayo Clinic, beginning with interstitial lung disease. This condition, marked by progressive scarring of lung tissue, is influenced by both rare gene variants and a collection of more common variants, all of which are captured together in polygenic risk scores.

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

Media contact:

• Sharon Theimer, Mayo Clinic Communications, newsbureau@mayo.edu

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A hysterectomy can treat many gynecologic conditions, including fibroids, painful periods and cancer, such as endometrial, cervical, ovarian and uterine cancers.

Dr. Megan Wasson, a gynecologic surgeon at Mayo Clinic, specializes in minimally invasive surgery. She says the decision to undergo a hysterectomy is highly individualized, based on each patient's specific needs. 

In many cases, a minimally invasive approach is an effective treatment. This type of surgery can help patients heal faster with less pain and a shorter recovery.

Watch: The Mayo Clinic Minute

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Minimally invasive surgery uses small incisions and special tools, causing less damage to the body than traditional surgery. 

"Any minimally invasive approach, whether that's vaginal, laparoscopic, robotic — that's going to be associated with a very fast recovery. The vast majority of the time, patients are able to leave the hospital the same day," explains Dr. Wasson.

The most common gynecologic surgery is hysterectomy — the removal of the uterus.

"The vast majority of the time we are able to complete hysterectomy through a minimally invasive approach. The most minimally invasive is a vaginal hysterectomy, which does not require any incisions on the abdomen," she says.

Laparoscopic hysterectomy is another approach.

"We separate the uterus from all of the surrounding tissue, and then we remove it. And then we do still need to do a hysterectomy through a larger incision called a laparotomy, at times. Most commonly that's going to be in the setting of a cancer or if there are extremely large fibroids," says Dr. Wasson.

Dr. Wasson says treatment is not one-size-fits-all, and she encourages patients to ask their healthcare team questions.

Related posts:

• Mayo Clinic Minute: When to seek care for pelvic pain
• Mayo Clinic Minute: Endometrial cancer associated with polycystic ovary syndrome
• Mayo Clinic Minute: Health disparities in gynecologic cancers

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At 20 years old, Brescia Dover was ready to take on the world.

She was on her way to achieving her dream of being a professional photographer.

Everything was going according to plan when her dream came to a halt. Brescia was diagnosed with cancer. With her plans for her future pushed aside, Brescia's focus was now on her health and hope.

It's an unexpected chapter facing an increasing number of adolescents and young adults diagnosed with cancer.

Watch: Focus on hope: Brescia's Story

Journalists: Broadcast-quality video (2:31) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

Brescia's dream

At 4 years old, it was clear Brescia Dover had a flare for creativity. She readily admits she was never one to miss an opportunity to play dress-up, draw pictures, or tell a story.

"Being creative has always been at the core of what I do," she says. Early on she developed a love for photography and videography. Brescia's dream was to pursue a career that allowed her to put her creative energy to work.

After high school Brescia's passion led her to college to study film and media production. She even traveled to Italy to study abroad. After her Italian adventure, Brescia returned to the U.S. to finish college. First, she went to her doctor for her annual checkup.

"I lived a really healthy, balanced lifestyle," says Brescia. "My doctor found swelling on the side of my neck. I hadn't noticed the swelling and didn't have any symptoms." Brescia was sent for an ultrasound followed by a surgical biopsy.

The diagnosis - cancer

The surgical biopsy revealed Brescia had Hodgkin lymphoma, a rare type of blood cancer. "Being diagnosed with cancer at 20 years old was so scary and I wouldn't wish that on any 20-year-old," says Brescia. "I think about the young version of me who just found out she had cancer, and I just wish I could give her a hug."

Hodgkin lymphoma is a type of cancer that begins in the lymphatic system, which is part of the immune system. Brescia says the news came as a shock because she felt healthy and had no family history of cancer. "It felt like there was something I could have done to prevent it, but I learned that there's nothing I could have done," says Brescia.

Being a young adult with cancer

"When I was going through college and diagnosed with cancer it was not what I was expecting," says Brescia. "Being a young adult with cancer was very hard and challenging. It is scary and can be very frightening."

At 20 years old, Brescia falls into a group of patients referred to as adolescents and young adults with cancer. AYA patients are between the ages of 15 and 39. Experts says AYA patients face a distinct set of challenges.

"One of the reasons this age group is so important is based on their life stage; the things they uniquely face, like body image, disruption in school and work, financial challenges, feeling isolation," says Dr. Allison Rosenthal, with the Mayo Clinic Comprehensive Cancer Center.

Doctor and cancer survivor

Dr. Rosenthal knows firsthand the challenges AYA patients face. She was diagnosed with leukemia during medical school. "I had leukemia in medical school. There were a lot of missed opportunities in my care to recognize the issues that I might face as a 24-year-old woman," explains Dr. Rosenthal.

Putting her experience into action, Dr. Rosenthal championed Mayo Clinic's Adolescent and Young Adults with Cancer program. The program is tailored to meet the unique needs of AYA patients to include medical care, fertility concerns, social and relationship issues, school and work concerns, and the personal and emotional impact of cancer in this age group.

Brescia underwent about four months of chemotherapy treatment under the care of Dr. Rosenthal. "She did a beautiful job of explaining to me what the process was going to look like and what my treatment plan was going to look like. Because I'm so young, she walked me through the whole process," says Brescia.

Cancer-free and focused on the future

After her cancer treatments, Brescia returned to college and got her degree. She the started her own marketing agency providing social media management, videography, photography, and brand development with her personal creative touch. She also celebrated her five-year anniversary of being cancer-free.

"I also have a podcast called the Checkered Jaguar where I get to have incredible conversations with people, share their stories and connect people who may be going through similar challenges that I went through," says Brescia. "We're all in this journey together and just being open and vulnerable with my journey, as challenging as it may be, I feel like it connects me to people all around the world."

If you are someone you know would like to learn more about the Mayo Clinic Adolescent and Young Adults with Cancer Program please click this link or email us at arzayacancerprg@mayo.edu. You can also reach us at 480-574-1341.

Related articles:

• Mayo Clinic Cancer Center launches program for adolescents and young adults
• Meeting the unique needs of adolescents and young adults with cancer
• Adolescent & Young Adult (AYA) Cancer Support Group
• All-Star pitcher Liam Hendriks shares how he closed out cancer at Mayo Clinic in Arizona
• Cancer is tough. Evelyn Owens is tougher
• (VIDEO) Harnessing the power of innovation and a patient’s will to survive
• Jessie’s Journey

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Jessie Milaski was a medic in the U.S. Army's 3^rd Ranger Battalion who served two tours of duty in Afghanistan. After leaving the Army 12 years ago, he worked as a paramedic with local emergency agencies in Florida, a U.S. State Department medic in Somalia and a medic at a field hospital set up in New York City during the early days of the COVID-19 pandemic.

Throughout, Milaski worked to support veterans and active-duty military personnel while steadily pursuing his medical education. In 2019, he signed up for a Mayo Clinic Military Medicine course in Phoenix, and that turned a key for him.

"It was the special operations tactical medics course. I came here for five days, and it was phenomenal," he says. "I realized I want to be involved in this — I had no idea how, but I knew this is what I was going to do."

Milaski completed his undergraduate degree in emergency medicine, and in 2021, he applied to the Military Fellowship program at Mayo Clinic in Arizona. He spent two years in the fellowship then applied to medical school at Mayo Clinic Alix School of Medicine, where he is now in his second year of studies.

"Attending the Military Medicine course in 2019 was the epitome of medical education for me," Milaski says. "I loved everything about it and my goal was to attend medical school. I never thought someone like me would actually get into a place like Mayo Clinic."

Fellowship program offers veterans a pathway to medical education and clinical practice

Milaski credits the Military Medicine fellowship program with the opportunity for veterans such as himself to gain the training and experience needed to prepare for medical careers in the civilian world, while continuing to serve the military community.

"For me, the fellowship was a vital bridge between my military experience and the academic rigor of medical school," he says. "It helped me transition from hands-on, operational medicine to a more evidence-based, academic approach. Teaching during the fellowship solidified my understanding of medical concepts and gave me a greater appreciation for the educational process. Most importantly, it gave me the confidence to apply to Mayo Clinic for medical school."

Since 2019, the fellowship program, which serves the enterprise with a home base in Arizona, has provided recently retired special operations medical personnel the opportunity to expand their clinical and medical education skills. The fellowship prepares an individual to become an independent educator in military medicine and can be a pathway to medical school or other training. Advancing existing competencies and skills while developing new ones is a key education priority at Mayo Clinic.

"The fellows ensure that what we teach is relevant and aligned with the needs of military medical personnel," says Pierre Noel, M.D., Military Medicine medical director and a retired U.S. Air Force lieutenant colonel.

The fellowship program, which is funded by the Leona Helmsley Foundation, is in keeping with Mayo Clinic's historical commitment to supporting U.S. military personnel and their training, says Melissa Barr, Military Medicine administrator. "The journey from military service to medical school at Mayo Clinic embodies the deep-rooted tradition of excellence that not only defines Mayo Clinic, but also our Military Medicine program."

Military Medicine currently has two fellows, who serve from one to 2 ½ years. Information on the program is available online or by contacting Elizabeth Adado, Military Medicine program manager.

"Jessie’s story is a testament to how the values of service, education, and leadership converge at Mayo Clinic," Barr says.

Veterans Day honors those who served and sacrificed for America

Milaski, 36, grew up in a small town in New York state and attended community college after he graduated from high school in 2006. He was the first in his family to attend college. "But I didn't have a focus or goal," he says. "I didn't have a lot of money, and I felt directionless."

He enlisted in the Army in 2008 and was stationed at Fort Benning (now Fort Moore) in Georgia as a medic in the 3^rd Ranger Battalion of the 75^th Ranger Regiment, which has a storied history tracing back to World War II. "I picked the medic job out of the blue. No one in my family had been in the medical field, but I talked with a few people, and I knew I wanted to be a soldier but help people, too. Early on, I said I wanted to keep doing medicine and go to medical school eventually."

After leaving the Army in 2012, he worked at a variety of medical-related jobs and served in the National Guard for three years. It was the experience at Mayo Clinic in 2019 that began to bring all the puzzle pieces together. "When the fellowship opportunity at Mayo came up, I knew I had to take the leap," he says. "It was a whirlwind — moving across the country with only a month's notice during a pandemic — but I've always found that growth comes from putting myself in uncomfortable situations."

At Mayo Clinic Alix School of Medicine in Arizona, he's focused on anesthesia and critical care. "It's the perfect next step to apply the skills I developed as a Special Operations Medic, where quick decision-making and high-stakes interventions were essential," he says. He's hopeful that his medical studies lead one day to a staff position at Mayo Clinic in Arizona.

On Veterans Day, he plans to attend the observance at the Mayo Clinic Scottsdale campus before going to class.

"For me, Veterans Day is about honoring those who dedicated part of their lives to serving our nation. The military community has shaped who I am today, and as a future physician, my goal is to continue giving back to that community."

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The findings, published in the Journal of Clinical Investigation, open a new therapeutic avenue for treating pancreatitis by halting the breakdown of triglycerides.

"This discovery not only provides a deeper understanding of the mechanisms behind triglyceride-induced organ damage in pancreatitis but also offers a promising strategy to improve patient outcomes," says senior author Vijay Singh, M.D., a gastroenterologist at Mayo Clinic's campus in Scottsdale, Arizona.

Acute pancreatitis is a common gastrointestinal disorder that leads to approximately 275,000 hospital admissions annually in the U.S. alone.  An estimated 30% of patients with acute pancreatitis have a form of the disease marked by high levels of triglycerides.

Patients with hypertriglyceridemia-associated acute pancreatitis have a higher risk of persistent organ failure and severe pancreatitis, which often requires life support, prolongs hospitalization and increases mortality rates. Despite these severe outcomes, the mechanisms driving this form of acute pancreatitis have remained unclear until now.

In this study, the researchers analyzed triglyceride and fatty acid levels in blood samples from 269 patients with acute pancreatitis. They found that patients with very high triglycerides had more severe disease and higher levels of fatty acids.

In addition, they did experiments in preclinical models to see how metabolizing triglycerides into fatty acids affected organ health. In animals, this process led to organ failure, which could be prevented by blocking an enzyme called lipase, which plays a crucial role in triglyceride metabolism.

The finding could inform new ways to manage triglyceride elevation during pancreatitis. Current treatments, such as the use of the blood thinner heparin to reduce triglycerides, have shown minimal benefit in reducing organ damage or the severity of pancreatitis. Heparin works by breaking down triglycerides, but this process does not significantly improve patient outcomes.

Mayo Clinic researchers, led by Dr. Singh, are currently developing alternative therapies for acute pancreatitis that block the breakdown of triglycerides.

The recent study also sheds light on the implications of using heparin and other treatments that release the enzyme lipase. It found that the worst outcomes were observed in pancreatitis patients receiving nutrition via IV, as intravenous formulations containing triglycerides can be broken down to potentially harmful fatty acids by circulating lipases.  

The research team is now investigating the relevance of this finding in patients with elevated lipase levels due to other diseases, such as intestinal, heart and lung conditions. These diseases may silently damage the pancreas, causing it to leak lipase and create a vicious cycle of worsening organ damage.

"Preliminary studies suggest that patients with elevated triglycerides and lipase levels require more frequent admissions to the intensive care unit," says Dr. Singh. "If confirmed, these findings could point to new ways to prevent the progression of these diseases."

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

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