Instead of traditional implants manufactured in standard sizes, surgeons are using implants designed from a patient's own imaging. 

"The benefit of these is they're custom fitted for each particular patient," says Dr. Joshua Bakhsheshian, a Mayo Clinic neurosurgeon. "This gives us a little bit more control in terms of alignment restoration and also (vertebral) endplate coverage, which leads to better patient outcomes down the line." 

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Personalized implants, personalized care 

Creating the implant starts with a CT scan. Resulting images are used to build a three-dimensional reconstruction of the patient's spine. From that reconstruction, an implant can be designed to fit the space between the vertebrae where it will be placed. 

This personalized fit is part of an evolution in spine surgery toward better tailored treatments. 

"Modern-day spine surgery requires a lot of planning beforehand," Dr. Bakhsheshian says. "The operation is mostly done before you even get to the operating room." 

For patients undergoing spinal fusion, implants help maintain the space between vertebrae while the bones heal together. Porous titanium also allows bone to grow into and integrate better with the implant. 

Better outcomes through customization 

Dr. Bakhsheshian says customization can also mean less adjustment to the implant  during the operation. 

"They're personalized to each patient, which allows me to finish the operation quicker because there's less 'carpentry' that's needed in the operating room," he says. 

This level of precision can also benefit patients after surgery. 

"Patients tend to recover faster, and they're able to return to their level of activity as desired sooner," Dr. Bakhsheshian says. 

A spinal implant may be small, but its role in supporting alignment, stability and healing is important. 

"I'm very excited about this technology," Dr. Bakhsheshian says. "Ultimately, it can help provide better outcomes."

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Mayo Clinic scientists are pushing medicine beyond diagnosis, developing treatments for ultrarare genetic diseases while building a model that could accelerate the path to treatment for many more. 

Behind the glass walls of her Mayo Clinic neuroscience laboratory, Margot Cousin, Ph.D., watches tiny clusters of living neurons flicker across her computer screen. Magnified hundreds of times, the cells carry the genetic variant responsible for KCNK9 imprinting syndrome, one of the rarest neurological diseases in the world.

Dr. Cousin directs Mayo Clinic's N-of-1 Therapeutics Program, where scientists develop treatment strategies for diseases so rare they may affect only a single person. Each advance can help shorten the path for the next ultrarare disease, and the one after that.

"For decades, the greatest success we could offer many patients was finally putting a name to their disease," says Dr. Cousin, a clinical and translational scientist in Mayo Clinic's Center for Individualized Medicine. "A diagnosis is an extraordinary achievement, but it's no longer the end of the journey. The future of medicine is turning that diagnosis into a path toward treatment."

Watch: One patient at a time, Mayo Clinic takes on the world's rarest diseases

Videography by Kevin Sullivan, Mayo Clinic

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The neurons glowing on Dr. Cousin’s screen came from a small skin sample donated by Summer Nagele, a 21-year-old from Illinois living with KCNK9 imprinting syndrome. Low muscle tone affects her movement, speech and eating. She has reduced lung function, tires easily, sometimes uses a wheelchair for longer distances, and underwent spinal fusion for severe scoliosis at 13.

Yet Summer has built her life around the very things the disease makes difficult. She sings the national anthem before cheering crowds, performs in musical theater, competes in eight Special Olympics sports — gymnastics is her favorite — and advocates for people with disabilities.

Another part of Summer's story is unfolding somewhere far quieter — under Dr. Cousin's microscope.

Fewer than 100 people worldwide are known to have KCNK9 imprinting syndrome. Many are children.

Dr. Cousin knows them by name.

A path beyond diagnosis 

For ultrarare diseases, the path to treatment is especially difficult. There may be only a handful of patients to study, little clinical evidence to guide trials and almost no commercial incentive to develop a therapy.

Dr. Cousin and her collaborators are using advances in genetics, disease modeling, molecular therapeutics and artificial intelligence to find another way.

Every potential treatment begins with a small sample of cells donated by the people Dr. Cousin and her team hope to help.

In the laboratory, researchers coax skin cells backward into stem cells and forward into the types of neurons affected by the disease. As the neurons begin communicating, the effects of the mutation come into view — a gene that is too active or a protein that doesn't function as it should.

Those living cultures also become a testing ground. Along the lab bench, Dr. Cousin and her team use precision pipettes to introduce potential therapies into tiny wells of neurons, then watch how the cells respond. Some are existing FDA-approved drugs being tested for a new purpose. Others are experimental genetic therapies developed specifically for the disease.

Turning discovery into a treatment strategy 

What began as an effort to understand KCNK9 imprinting syndrome is now evolving into an international push to develop the disorder's first treatment. 

In 2022, Dr. Cousin and her team identified 15 previously unknown genetic changes that cause the disease. Those discoveries provided definitive diagnoses for 21 families and established a stronger scientific foundation for understanding the condition.  

Earlier this year, the team launched a natural history study to follow people with KCNK9 imprinting syndrome over time and better understand how the disease progresses. That information could help researchers identify measures for future clinical trials and determine whether a potential treatment is making a difference. 

In the laboratory, the team is investigating antisense oligonucleotides as one possible treatment strategy. The molecules can be designed to alter how genetic instructions are carried out inside cells. Researchers are still working to better understand the mechanisms driving KCNK9 imprinting syndrome and developing cell models needed to test potential therapies. 

Families are helping drive that momentum. Among them are Melissa and Sean Kelley, whose 12-year-old son, Preston, has one of the most severe forms of KCNK9 imprinting syndrome. He communicates through an eye-gaze device and relies on a wheelchair. The Kelleys founded the KCNK9 Foundation, helping transform a small group of isolated families into a global research community. 

"We share a special bond that no one else really understands," Melissa says. "For all of us with kids who are affected, our hope is to see a therapy in our lifetime." 

That community recently came together in Dallas, where Dr. Cousin joined families, clinicians and researchers from around the world for the third Global KCNK9 Imprinting Syndrome Symposium. For one of the world's rarest disorders, bringing so many families into one room was a milestone in itself. 

Sean says those face-to-face encounters give researchers "a much more nuanced view" of the disease and the many ways it can affect patients.  

Summer and her parents were part of the group that traveled to Dallas. "We trust Dr. Cousin," says her mother, Autumn Nagele. "When Summer was invited to be a part of the research, we knew her participation would be meaningful." Her father, Michael Nagele, puts their relationship with Dr. Cousin more simply: "She's family now." 

Summer's thoughts are on the younger children with KCNK9 imprinting syndrome. 

"I want the younger kids to be able not to go through the stuff that I do," Summer says. 

Scaling hope for ultrarare diseases

The search for a KCNK9 treatment is one part of a much larger effort. Across other ultrarare diseases, Dr. Cousin and her collaborators are applying the same approach, and in some cases, have already carried it from laboratory research to experimental treatment.

In 2025, they helped deliver the first custom experimental genetic treatments for Autosomal Dominant Leukodystrophy (ADLD) to a Mayo Clinic patient. The rare, fatal neurological disease slowly destroys the brain's white matter, disrupting the pathways that allow different regions of the brain to communicate.

Dr. Cousin and her collaborators have since built a comprehensive ADLD program, bringing together an international disease study and a dedicated ADLD Clinical Care Center to better understand the disorder, expand access to expert care and prepare for future treatment trials.

One by one 

For Dr. Cousin, the significance of the work is measured in much more than data points on a screen.

That became especially clear during Summer's skin biopsy.

With Dr. Cousin beside her, Summer began naming all the other children she had met through the KCNK9 community. One by one, she called them out, as if bringing them into the room with her.

"I thought of all the kids that I'm helping," Summer says.

Some breakthroughs are measured in millions of lives. In Dr. Cousin's laboratory, they begin with one.

The Bigger Picture

The work aligns with Mayo Clinic Research's Clinical Impact initiative, which is accelerating the path from scientific discovery to clinical trials and patient care. For ultrarare diseases, that means creating a more direct route from understanding the biology of a disorder to developing and testing potential therapies.

The Beyond the Breakthrough special series goes inside Mayo Clinic research to meet the people advancing medicine and cures for patients.

For more stories like this, visit Beyond the Breakthrough. 

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DEAR MAYO CLINIC: My doctor told me my cancer has spread to my brain. What treatments are available, and what should I expect next? 

ANSWER: Brain metastases, sometimes called "brain mets," occur when cancer that began elsewhere in the body spreads to the brain. 

Treatment may include surgery, focused radiation, whole-brain radiation, medicines or a combination of these approaches. There's no single treatment plan that's right for everyone. Your healthcare team may recommend an individualized plan based on many different factors. 

How do doctors decide which treatment is right for you?

Brain MRI scans will help your care team assess the size, location and extent of brain metastases. Treatment planning also depends on several other considerations, including: 

• The number of tumors. Your team will determine whether there is one brain metastasis, a few or many. 

• Their size and location. A tumor's position may affect whether it can be removed safely and whether it's pressing on an area that controls an essential function. 

• Your symptoms. Brain metastases may cause headaches, seizures, weakness, confusion or other symptoms. 

• Cancer elsewhere in the body. Your team will consider whether cancer outside the brain is controlled or progressing. 

• The tumor's molecular features. These are the specific genetic characteristics of cancer. Understanding them may help your team predict how the cancer could behave and identify treatments that may work. 

• Your priorities. Your goals and quality of life are important parts of treatment planning. 

When is surgery recommended for brain metastases?

Surgery may be considered when a brain metastasis can be safely reached and removing it fits into your overall cancer treatment plan. It may be recommended when a tumor is large, is causing pressure in the brain, is producing symptoms that require relief, or when tissue is needed to confirm the diagnosis or perform molecular testing. 

The surgical approach depends on the tumor's size and location. Some tumors may be treated using minimally invasive techniques. If a tumor is near an area that controls speech, movement or another essential function, awake brain surgery may allow the surgical team to monitor those functions during the procedure. 

How is radiation therapy used to treat brain metastases?

Radiation therapy uses powerful beams of energy to destroy cancer cells. The type of radiation recommended depends on factors such as the number and location of the tumors, whether surgery is part of the plan, whether medicines may help control the cancer, and how treatment could affect your quality of life. 

• Stereotactic radiosurgery is commonly used to treat brain metastases. Despite its name, it doesn't involve an incision. It delivers highly focused radiation to specific areas of the brain while limiting exposure to nearby healthy tissue. Treatment often is completed in one or a few sessions. 

• Whole-brain radiation treats the entire brain and may be considered when cancer is more widespread within the brain.  

Can medicines treat cancer that has spread to the brain?

Systemic therapies are medicines that travel through the bloodstream to treat cancer throughout the body. They include chemotherapy, immunotherapy, targeted therapies and other cancer medicines. 

In the past, brain metastases often were treated first with surgery or radiation because many cancer medicines had difficulty reaching tumors in the brain. Advances in treatment are changing that approach. Some targeted therapies and immunotherapies can treat certain brain metastases, depending on the type of cancer and its molecular characteristics. 

For example, a tumor with a particular genetic mutation may respond to a medicine designed to target that mutation. Not everyone has a mutation for which a targeted treatment is available. When one is identified, however, systemic therapy may help treat cancer in the brain and elsewhere in the body. 

Often, the question isn't which single treatment to use but which combination to use and in what order. For example, surgery may be recommended first to relieve symptoms or obtain tissue for testing, followed by focused radiation. Chemotherapy, immunotherapy or other medicines also may play a role in treating cancer throughout the body. 

Because these decisions are complex, treatment planning often involves specialists from neurosurgery, medical oncology, radiation oncology and other areas. Ask your healthcare team what each treatment is intended to accomplish, why the treatments are being recommended in a particular order and how the plan reflects your priorities. 

Although there is no one-size-fits-all approach, a coordinated evaluation can turn a complicated set of choices into a clearer path forward. 

Ian Parney, M.D., Ph.D., Neurosurgery, Mayo Clinic, Rochester, Minnesota

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ROCHESTER, Minn. — When back or spine problems persist, figuring out where to go for care can be confusing. Should you see a neurosurgeon or an orthopedic surgeon? A neurologist or rehabilitation specialist? And if you see a spine surgeon, does that mean you'll need surgery?

Spine conditions often cross medical specialties, which is why getting the right diagnosis is an important first step, say Mayo Clinic spine experts Benjamin Elder, M.D., Ph.D., a neurosurgeon, and Mel Helgeson, M.D., an orthopedic surgeon.

"The optimum benefit is that patients get thorough evaluations from multiple clinicians with different perspectives to figure out the best route forward," Dr. Elder says.

Coordinated, multidisciplinary evaluation provides clarity, removes guesswork

At Mayo Clinic Spine Centers in Arizona, Florida, Rochester and Northwest Wisconsin, patients with a range of spinal conditions can be evaluated by specialists across neurosurgery, orthopedic surgery, neurology, physical medicine and rehabilitation, pain medicine, and other areas. The goal is to understand what is driving a patient's symptoms and determine the most appropriate path forward.

"Our model of care removes any bias that might drive spinal treatment," Dr. Helgeson says. "We can communicate with other professionals on the team and focus on doing what is right for each individual patient."

That broader perspective can be particularly important because symptoms that seem to stem from the spine may occur alongside neurological or other medical problems. Specialists can review records and imaging, and they can coordinate additional testing or consultations when needed.

For patients, that means the starting point doesn't necessarily have to be choosing the right specialty themselves. Instead, a coordinated evaluation can bring together the expertise needed to reach a diagnosis and develop an individualized treatment plan — and surgery isn't always the answer.

"We generally first determine the least invasive option that will provide a solution to patients and then develop treatment plans in coordination with their wishes," Dr. Elder says.

Treatment approach is tailored to each patient's needs

Depending on the diagnosis, treatment may include rehabilitation, pain management and other nonsurgical approaches. When surgery is appropriate, Mayo Clinic's neurosurgeons and orthopedic surgeons collaborate with other specialists to determine the approach that best fits the patient's condition and needs.

If a patient does need a surgical procedure, some may also require additional medical treatment before surgery, such as improving their bone health, and Mayo has one of the most advanced programs in preoperative optimization and bone health.

For people seeking care for a back or spine problem, Drs. Elder and Helgeson say an important consideration is whether the care team can look beyond a single procedure or specialty and offer a range of options.

"All that expertise is brought together for comprehensive diagnosis and treatment," Dr. Helgeson says.

Ultimately, the objective is not simply to treat an image or a diagnosis but to help people regain function and quality of life.

"Spinal conditions are complex, and we always put the needs of the patient first," Dr. Helgeson says. "The goal is to take people from a place of significant pain and dysfunction and return them to as normal a quality of life as we can."

Drs. Elder and Helgeson are available for interviews.

###

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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This aggressive brain cancer can extend beyond what's visible on a standard MRI, making it difficult to precisely target treatment. Just 5% to 7% of patients survive five years after diagnosis. 

Mayo Clinic researchers are studying advanced imaging techniques designed to bring more of the tumor into view and potentially give care teams a better-defined target. 

"We're trying to develop and improve treatments that will help extend the length of time patients live, as well as their quality of life and function while they're alive," says Dr. William Breen, a radiation oncologist at Mayo Clinic. "From a radiation perspective, we need to be able to accurately see the tumor to accurately target it and treat it as well as possible." 

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Seeing tumors more clearly 

A standard MRI with contrast shows doctors where glioblastoma appears to be, but tumor cells can extend into the surrounding brain beyond what is clearly visible. 

"In over half of patients, we find a tumor more than a centimeter beyond the standard MRI-defined tumor, and in 20% of patients, we find a tumor more than 2 centimeters beyond the standard MRI-identified tumor," Dr. Breen says. 

To see more, Mayo Clinic investigators are combining advanced MRI techniques with research PET scans. The scans provide different clues, such as areas where cells are especially dense, where blood flow is increased or where there may be more aggressive tumor activity. 

Together, they can give doctors a more detailed picture of the tumor and where it may extend. 

Treating tumors more precisely and effectively 

Because glioblastoma can extend beyond what doctors see on a traditional MRI, radiation treatment generally includes an extra margin around the visible tumor to help cover cancer cells that may be hidden. 

Advanced imaging could help doctors more accurately identify those areas and tailor radiation accordingly. For some patients, that could mean treating a smaller area of the brain and reducing radiation exposure to healthy tissue. 

"By using advanced imaging, we're able to treat a smaller area in many patients and reduce the amount of normal brain receiving radiation, which may make for a safer and better treatment," Dr. Breen says. 

Researchers also are studying whether they can direct more intensive treatment toward areas that advanced imaging identifies as particularly concerning. 

Greater precision may make it possible to give a higher dose of radiation at each treatment and finish therapy sooner. Dr. Breen says treatment has been shortened from three to six weeks to one to two weeks for some patients, meaning fewer trips to the hospital and more time at home. 

Bringing specialties together 

The research brings together experts across Mayo Clinic, including neurosurgeons, radiation oncologists, neuro-oncologists, neuroradiologists and nuclear medicine specialists. 

"I think our strength at Mayo Clinic for treating glioblastoma is the multidisciplinary team," Dr. Breen says. 

While glioblastoma remains challenging to treat, advances in imaging, surgery, radiation, chemotherapy and other therapies are helping researchers continue to improve care. 

"We know there's still much progress to be made," Dr. Breen says, "but we have seen progress over the years to improve both quality of life and quantity of life for our patients with glioblastomas."

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A brain aneurysm, also called a cerebral aneurysm, is a bulge or ballooning in a blood vessel in the brain. Aneurysms generally fall into two categories: ruptured aneurysms, which are neurosurgical emergencies requiring immediate care, and unruptured aneurysms, which allow time to evaluate treatment and monitoring options. 

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"For unruptured aneurysms, we have the ability to plan and make a decision on the best treatment upfront in a nonemergent situation," says Dr. Chris Fox, a Mayo Clinic neurosurgeon.

But when a brain aneurysm ruptures, prompt medical attention is required. 

"Typically, when we see a patient with a ruptured aneurysm, we treat it as quickly as possible. That's usually within a matter of hours because there's a risk that the aneurysm can rerupture," he says.

Symptoms of a ruptured aneurysm can include severe head pain, nausea, vomiting, confusion and loss of consciousness.

"The classic presentation for a ruptured aneurysm is a patient has the worst headache of their life," Dr. Fox says.

Brain aneurysms are more common in women, and there may be a genetic component because aneurysms can run in families.

"But smoking and hypertension are two of the biggest risk factors for causing an aneurysm or having an aneurysm form," says Dr. Fox.

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After unexplained pain, stiffness and abnormal movements led to dystonia diagnoses, Mayo Clinic specialists tailored deep brain stimulation and ongoing care to Emma and Lauren Fink's individual symptoms and goals. 

In September 2024, 14-year-old Emma Fink reached for a volleyball during gym class when something suddenly went wrong. 

"I went to bump the ball, and my shoulder blade popped out of place," Emma says.  

Her right shoulder blade shifted sharply upward and remained fixed in place. She describes the pain as feeling like "someone was punching me over and over." 

At the emergency department, imaging showed that Emma's shoulder was not dislocated. The cause of her shoulder blade's fixed position remained unclear, and muscle relaxants provided no relief. 

Watch: Deep brain stimulation helps sisters with dystonia return to the activities they love

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When Emma's symptoms pointed to a movement disorder 

For months, Emma could not raise her arm, sleep comfortably, write with her dominant hand or wash her hair. Emma, a normally laid-back teenager who loved drawing, archery and spending time with friends, had to relearn everyday tasks with her left hand while living with constant pain. 

Emma was initially treated for a suspected sports injury. When her shoulder did not improve with treatment, Mayo Clinic sports medicine specialists in Rochester, Minnesota, contacted Dr. Amy Rabatin, a physical medicine and rehabilitation specialist at Mayo Clinic. 

Before seeing Emma in person, Dr. Rabatin was brainstorming with the sports medicine team, reviewing photographs, considering ways to control Emma's pain and asking another question: Who else needed to be involved? 

Suspecting a neurologic cause, Dr. Rabatin helped connect Emma with Dr. Keith A. Coffman, a Mayo Clinic neurologist who specializes in pediatric-onset movement disorders. 

Dystonia diagnosis brings answers 

When Dr. Coffman evaluated Emma, he recognized signs of dystonia, a movement disorder that can cause involuntary muscle contractions and painful, sustained tightening. He compares the sensation to a charley horse that does not release. 

Dystonia can affect any voluntary muscle and can look very different from one person to the next. Emma's presentation was especially unusual, Dr. Coffman says, because her arm had remained locked in position for months. 

The diagnosis brought clarity but not a quick fix. Drs. Rabatin and Coffman continued coordinating Emma's medication management, rehabilitation and evaluation of additional treatment options to address her pain, movement and function. 

Considering deep brain stimulation for dystonia 

When medications did not adequately control Emma’s worsening symptoms, Dr. Coffman recommended deep brain stimulation (DBS). 

DBS uses implanted electrodes to deliver adjustable electrical stimulation to areas of the brain involved in movement. It can lessen symptoms of dystonia, but it is not a cure.

For Emma and her family, the next step did not require starting over with a new care team. Dr. Coffman could evaluate her for DBS alongside Dr. Kai Miller, a Mayo Clinic neurosurgeon, through Mayo Clinic's Pediatric Deep Brain Stimulation Program in Rochester. 

At first, Emma was hesitant about brain surgery. 

Dr. Coffman and Dr. Miller talked with Emma and her parents, Angie and Andy Fink, about the potential benefits, limitations and risks. They also addressed Emma's questions, including how much of her hair would need to be shaved. As the physicians answered her questions, Emma became more comfortable considering the procedure. 

"I just wanted to be better," Emma says. "Anything to make me better." 

Emma notices a change after DBS activation 

Dr. Miller performed Emma's DBS surgery in April 2025. When Dr. Coffman activated the device several weeks later, Emma felt the muscles around her shoulder release. 

"I could feel my shoulder shift down, and then all my muscles finally relaxed," she says. "It felt like it was floating." 

Within minutes, Emma could move an arm she had been unable to use for nearly eight months. 

After watching Emma live with persistent pain, Angie struggled to believe the change could last. 

"I remember thinking, 'We're going to wake up tomorrow, and it's going to be back to the way it was. This can't be real,'" Angie says. "I had some disbelief that it worked so well, so quickly, and then gratitude that we had the expert team to make it happen for her." 

The moment affected Emma's care team too. 

"When we turned Emma's device on and she got relief, we all cried," Dr. Coffman says. 

A second dystonia diagnosis in the family 

As Emma recovered and rebuilt her strength through occupational therapy with Katie Cossette, OT, and physical therapy, her younger sister, Lauren, began experiencing rapid blinking and unusual movements of her head and neck. 

She also had a long history of tightness and pain in her legs that worsened with activity. 

During one of Emma's DBS programming appointments, Angie described Lauren's symptoms. Dr. Coffman asked to see Lauren and later confirmed that she, too, had dystonia. 

Their specific condition is classified as presumed monogenic dystonia, meaning it is likely tied to a change in a single gene that has not yet been identified. Dr. Coffman says this is the second most common form of dystonia in children. 

Individualizing care for each sister 

Sharing the same condition did not mean Lauren's treatment would mirror Emma's. Still, like her sister, Lauren wanted to try medication before considering DBS. 

The team gave her time to make the decision on her own terms. But as Lauren's symptoms worsened, the effects became harder to ignore. Softball, a sport she loves, grew more difficult as her bat speed slowed and fatigue set in more quickly. 

After watching her sister benefit from DBS and talking through her own concerns with her care team, Lauren underwent DBS surgery in February 2026. 

When her device was activated, Lauren noticed almost immediately that walking felt easier. 

"I didn't realize I wasn't supposed to feel that uncomfortable tightness in my legs when I moved," she says. 

Fine-tuning deep brain stimulation over time 

As Emma and Lauren grow and their symptoms change, they return to Dr. Coffman to fine-tune their DBS settings around the activities that matter most to them. For Lauren, that means softball. 

During a recent appointment, she stood in the clinic swinging a bat while Dr. Coffman adjusted her DBS settings on a tablet. With each change, she described what she felt. 

When the stiffness eased and her swing felt natural again, they knew they had found the right setting. 

Returning to school, sports and everyday life 

Across specialties, Emma and Lauren's care team continues to share updates about their symptoms, rehabilitation and personal goals, so their treatment can adjust as their needs evolve.  

Although the family may meet with each specialist separately, Angie says their care has never felt divided. 

"It feels like when we talk to one of them, we're talking to all of them," she says.  

Today, Emma is returning to archery, drawing and time with friends. Lauren continues to practice softball, work on her strength training and has plenty of energy for her family and friends. 

Looking back on how far both girls have come, Angie and Andy say they are grateful for the Mayo Clinic care teams that helped Emma and Lauren return to the rhythms of teenage life. 

"Through this all, we felt like we were in good hands," Andy says. "If there’s any place in the world we would have wanted this done, it would have been right here."

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ROCHESTER, Minn. — Mayo Clinic researchers have identified a potential new approach to treating glioblastoma that could help the immune system fight the aggressive brain cancer while improving the effectiveness of existing chemotherapy.

The preclinical research, published in Nature Communications, found that inhibiting the enzymatic activity of a protein called MALT1 can reprogram immune cells surrounding glioblastomas, shifting them from a state that helps protect the cancer to one that promotes an antitumor immune response.

Researchers also found that treatment with a MALT1 inhibitor slowed tumor growth in preclinical models and that combining MALT1 with temozolomide, the chemotherapy most commonly used to treat glioblastoma, enhanced temozolomide effectiveness. In one preclinical model, median survival substantially increased when this chemotherapy was combined with MALT1 inhibition in comparison to treatment with temozolomide alone.

"Glioblastoma is extraordinarily difficult to treat, in part because the tumor is able to manipulate the immune cells around it and create an environment that protects the cancer. Our findings point to a potential approach to disrupting that protection and, importantly, to making an existing treatment more effective," says Juliana (Hofstatter Azambuja) Yerneni, Ph.D., lead author and researcher in the Department of Laboratory Medicine and Pathology at Mayo Clinic.

Glioblastoma is the most common and aggressive primary cancerous brain tumor in adults and accounts for roughly 5% of malignant brain tumors in children. Despite surgery, radiation and chemotherapy, the cancer remains incurable and almost always returns.

The findings raise the possibility of a future approach that could help patients get more benefit from existing treatments.

"Our goals are to discover how glioblastoma communicates with the immune cells surrounding the tumor in order to dampen the antitumor immune response and to use these discoveries to identify new treatments that enhance antitumor immune response and improve outcomes for patients with this devastating disease," says Linda McAllister-Lucas, M.D., Ph.D., pediatric oncologist, enterprise deputy director for pediatric cancer programs of the Mayo Clinic Comprehensive Cancer Center and co-senior author of the study with Peter Lucas, M.D., Ph.D., vice chair for research in the Department of Laboratory Medicine and Pathology at Mayo Clinic.

More research is needed to determine which specific subtypes of glioblastoma may be most likely to respond to MALT1-targeted therapy and to evaluate its potential for use in patients.

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

###

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 find a way to reprogram immune cells and boost chemotherapy response in glioblastoma appeared first on Mayo Clinic News Network.

DEAR MAYO CLINIC: I recently read that Mayo Clinic researchers discovered DNA changes linked to Alzheimer's disease. Does this mean scientists are getting closer to preventing or curing Alzheimer's disease? 

ANSWER: Research advances are helping scientists better understand Alzheimer's disease, but no single study has found a cure or identified a single cause. Instead, studies like the one discovering DNA changes linked to Alzheimer’s provide important clues that may help guide future treatments.  

Alzheimer's disease is the most common cause of dementia. It affects memory, thinking, behavior and the ability to carry out everyday activities. More than 7 million Americans are living with Alzheimer's disease, and that number is expected to grow as the population ages. 

Scientists know that age is the greatest risk factor for Alzheimer's disease, but aging alone doesn't explain why some people develop the condition while others do not. Genetics, lifestyle factors and environmental influences also appear to play a role. Researchers are working to understand how these factors interact in the brain. 

For many years, Alzheimer's research has focused on two proteins found in the brain: amyloid and tau. The buildup of these proteins is one of the best-known features of the disease. While these proteins remain important, researchers now recognize that Alzheimer's is a complex disease involving many biological processes beyond amyloid and tau. 

A recent Mayo Clinic study explored another piece of the puzzle: changes in how the brain turns genes on and off. 

Genes are sections of DNA that provide instructions for how cells work. Cells can control which genes are active and which remain inactive, allowing them to carry out different functions without changing the underlying DNA sequence.  

Scientists call this process epigenetics. These chemical changes can influence how cells behave and respond to aging, disease and environmental factors. 

In the study, researchers examined brain tissue from hundreds of people with Alzheimer's disease and looked for patterns in these gene-regulating changes. They identified several changes strongly linked to the tau protein.  

The research also highlighted the possible importance of oligodendrocytes — brain cells that support nerve cells by producing myelin, a protective layer that helps signals move efficiently. When myelin is damaged, communication in the brain may be disrupted. 

The findings suggest that Alzheimer's disease may involve not only damage to nerve cells but also changes in the systems that support how those cells communicate with one another. This growing understanding is encouraging researchers to look beyond traditional explanations of the disease. 

So, what does this mean for patients today? 

These findings are not expected to change how Alzheimer's disease is diagnosed or treated right now. Scientists must confirm the findings, better understand how these changes affect the brain and determine whether the discoveries can lead to safe and effective treatments. 

One reason researchers are excited about epigenetics is that, unlike inherited DNA changes, some gene-control changes may be reversible. While much more research is needed, the findings so far suggest that future therapies could target these biological processes. 

Studies like this also help identify new areas for investigation and may reveal why Alzheimer's disease affects people differently. As researchers learn more, they move closer to developing more personalized approaches to prevention and treatment. 

The Mayo Clinic team that did research on the DNA changes associated with the disease also created a free online tool that allows researchers worldwide to explore the study's data. Called the Multiomic Atlas of AD Brain Endophenotypes, the searchable resource lets scientists look up specific genes and view results in interactive tables and graphs. By making these findings widely available, researchers hope to accelerate discoveries and support the development of improved treatments for Alzheimer's disease and other neurological conditions.  

There's still no cure for Alzheimer's disease, but researchers continue to make progress. Each discovery helps them better understand the disease and brings them closer to finding ways to prevent, slow or treat it. 

Nilüfer Ertekin-Taner, M.D., Ph.D., chair, Department of Neuroscience, Mayo Clinic; Department of Neurology, Mayo Clinic, Jacksonville, Florida 

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DEAR MAYO CLINIC: My mother gets headaches from time to time, but recently she's been reading that some headaches can be signs of serious medical problems. What's the difference between a headache that's just a nuisance and one that needs immediate medical attention? 

ANSWER: Most headaches aren't a symptom of a life-threatening condition. Common headaches, including tension headaches and migraines, can be painful and disruptive, but they usually aren't medical emergencies. However, certain headache symptoms shouldn't be ignored because they can signal a serious underlying condition, such as a stroke, bleeding in the brain, meningitis or, less commonly, a brain tumor. Knowing the warning signs can help you decide when to seek emergency care. 

You should contact your healthcare team if you experience: 

• Headaches that wake you from sleep or are present when you wake up. 

• Headaches that become more frequent or progressively more severe. 

• Headaches that don't improve with over-the-counter medications such as acetaminophen or ibuprofen. 

A severe headache can be described as the "worst headache of your life" — one that develops suddenly and reaches maximum intensity within seconds or minutes. This can be a sign of a medical emergency. 

Go to the emergency department or call 911, especially if your headache is accompanied by: 

• Weakness or numbness. 

• Slurred speech. 

• Confusion. 

• Loss of consciousness. 

• Double or blurred vision. 

• Severe dizziness or difficulty walking. 

• Fever and a stiff neck. 

While serious causes of headaches are uncommon, they do occur. For example, headaches can be associated with brain aneurysms, although these headaches are typically sudden and severe, and they may be accompanied by loss of consciousness. 

Brain tumors are rare, but about half of the people who are diagnosed with one experience headaches. These headaches often become progressively worse over time, and may occur in the morning or wake someone from sleep. They're frequently accompanied by nausea or neurological symptoms, such as weakness, numbness or vision changes. 

Headaches with vision changes can have several causes. Some people with migraines experience visual disturbances. In other cases, vision changes and headaches may be related to inflammatory conditions such as giant cell arteritis, which is an immune disease that causes swelling and narrowing of medium- and large-sized arteries, and it can cause blindness.  

If you're over the age of 50, you should always discuss new headaches with your healthcare professional. Most primary headache disorders, including migraines and tension headaches, begin much earlier in adulthood. 

You also should seek medical evaluation if headaches consistently occur with coughing, sneezing or straining, or if they're triggered by exercise and continue to recur. Although these headaches are often benign, they sometimes can signal an underlying structural condition. 

After a head injury, it's common to develop headaches. Many go away with rest and over-the-counter pain relievers. However, seek medical care after a head injury if you lose consciousness, have memory loss or repeated vomiting, take blood thinners, are age 65 or older, have obvious head trauma, or were injured in a significant fall or by a direct blow to the head. 

If you're being evaluated for headaches, be prepared to describe: 

• How severe the headache is. 

• When it started and how long it lasted. 

• Whether it wakes you from sleep. 

• Whether it's different from your usual headaches. 

• Any associated symptoms, such as fever, weakness, numbness or vision changes. 

• What treatments you've tried and whether they helped. 

Depending on your symptoms, your healthcare team may recommend imaging, such as a CT scan or MRI, to help identify the cause. 

The bottom line is that most headaches aren't dangerous, but some require immediate attention. Remember the key warning signs. And when in doubt, it's always safest to seek medical evaluation. 

Grant Mallory, M.D., Spine Care, Neurosurgery, Mayo Clinic Health System, La Crosse, Wisconsin

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