Lou Gehrig's Disease Archives - Mayo Clinic News Network https://newsnetwork.mayoclinic.org/ News Resources Fri, 12 Jul 2024 06:56:17 +0000 en-US hourly 1 https://wordpress.org/?v=6.8.1 Maintaining quality care for patients with ALS — Lessons from the pandemic https://newsnetwork.mayoclinic.org/discussion/maintaining-quality-care-for-patients-with-als-lessons-from-the-pandemic/ Wed, 21 Sep 2022 11:00:00 +0000 https://advancingthescience.mayo.edu/?p=17432 By Susan Barber Lindquist The efficiency and effectiveness of telemedicine exploded during the COVID-19 pandemic. For patients with Lou Gehrig's disease, also known as amyotrophic lateral sclerosis or ALS, telemedicine always has been an important piece of their medical care. A recent study in Neurology by Mayo Clinic researchers offers one more proof point. Tests […]

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By Susan Barber Lindquist

photo of Lou Gehrig $0.25 stamp

The efficiency and effectiveness of telemedicine exploded during the COVID-19 pandemic. For patients with Lou Gehrig's disease, also known as amyotrophic lateral sclerosis or ALS, telemedicine always has been an important piece of their medical care.

A recent study in Neurology by Mayo Clinic researchers offers one more proof point. Tests to monitor the respiratory status of patients with ALS can be performed remotely with superior results and high patient satisfaction.

"For patients with chronic disabling conditions, it is critical that we try to provide care for people with ALS that goes beyond the walls of the clinic. Technology is helping us provide that care to them wherever they are," says Nathan Staff, M.D., Ph.D., a Mayo Clinic neurologist and senior author of the study.

ALS is a progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing a loss of muscle control. At Mayo Clinic, patients with ALS participate in a clinic that offers access to neurologists, physiatrists, speech-language pathologists, dietitians, respiratory therapists, social workers and nurses.

Nathan Staff, M.D., Ph.D., sees patients at Mayo Clinic in Rochester, Minnesota.

"In effect, the ALS Clinic serves as a home base for our patients and their care partners," Dr. Staff explains.

Before the COVID-19 pandemic, patients typically were seen in person in the ALS Clinic for a half-day every three months. Then they could contact the team by telephone or through Patient Online Services, Mayo Clinic's patient portal, at any point between visits.

Unfortunately, as the disease progresses, people with ALS become more paralyzed, which makes transportation to the clinic more difficult. Harsh Midwest winters also can make traveling in Minnesota hazardous. Thus, even before the COVID-19 pandemic, efforts were underway to routinely provide telemedicine as part of the ALS Clinic in Rochester. 

The ALS care team started regular telemedicine patient visits mere months before the onset of the COVID-19 pandemic, allowing the clinic to transition to all-telemedicine care in March 2020. Today, a telemedicine option continues to be a standard way for people with ALS to maintain care when the disease makes it difficult to travel.

Because people with ALS commonly need help breathing, one challenge with telemedicine is the need to continually monitor patients' respiratory status to help a clinician make decisions about noninvasive ventilation support. The Mayo team developed a mailing system for respiratory monitoring. With this system, a home overnight oximetry machine was mailed to the patient and then returned to Mayo for interpretation. 

hand and forearm with device sensor attached to forefinger, and short wire connecting to digital display/wristband monitor
Easy to use overnight oximetry testing device was mailed to patients during the clinical trial, and now is a standard care option at Mayo Clinic.

In a study of 476 subjects, home overnight oximetry performed as well as, and in some cases better than, a spirometry test performed in the clinic. The home test also avoided infection concerns related to potential aerosolization of virus during spirometry, which requires the patient to blow into a tube in the presence of a clinician.

Patients also shared their opinions. In a survey, the home overnight oximetry system was so popular with patients that it has become the standard in the ALS Clinic at Mayo Clinic in Rochester.

"Members of our ALS Clinic team are always striving to provide new ways to care for our patients, and their quick adoption of telemedicine and mail-out home overnight oximetry approaches has clearly been a huge benefit," Dr. Staff says.

At Mayo Clinic in Florida, respiratory therapy service is provided by a vendor directly in patients' homes. At Mayo Clinic in Arizona, remote respiratory status monitoring is available. To enable continued care as the disease advances and to limit risks associated with travel, telehealth visits continue to be an important part of care for patients with ALS connecting with clinicians at any Mayo Clinic location.

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Discovery Science Clears Up How Brain ‘Cleaners’ Fail in ALS https://newsnetwork.mayoclinic.org/discussion/discovery-science-clears-up-how-brain-cleaners-fail-in-als/ Thu, 16 Dec 2021 16:05:00 +0000 https://discoverysedge.mayo.edu/?p=6396 In preclinical studies, Mayo Clinic scientists and collaborators have identified the molecular mechanism used by the brain's "cleaners" as they remove a problematic protein in the brain. This work, published in Nature Neuroscience, demonstrates that the cleaners ― resident immune cells in the brain called microglia ― play a protective role in a mouse model […]

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In preclinical studies, Mayo Clinic scientists and collaborators have identified the molecular mechanism used by the brain's "cleaners" as they remove a problematic protein in the brain. This work, published in Nature Neuroscience, demonstrates that the cleaners ― resident immune cells in the brain called microglia ― play a protective role in a mouse model of Lou Gehrig's disease, also known as amyotrophic lateral sclerosis (ALS). The study may provide a potential therapeutic target for that disease.

The loss of neurons characterizes the neurodegenerative diseases of Alzheimer's and ALS. In Alzheimer's, the lost neurons handle memory retrieval, and in ALS, it is the neurons that manage movement that are damaged. In the brain of people diagnosed with either of these diseases, pathologists can see a buildup of specific proteins: beta-amyloid and tau in those with Alzheimer's, and a protein called TAR-DNA binding protein 43 kDa (TDP-43) in people with ALS.

Microglia are the cells tasked with cleaning up debris in the brain, and they have a unique receptor called TREM2. When this receptor is mutated, evidence suggests risks increase for developing Alzheimer's disease, the theory being that microglia cannot clean up the brain efficiently. But the evidence for TREM2 and ALS was more tenuous until now.

"The aggregation of TDP-43 in the brain is a hallmark for most ALS patients," explains Long-Jun Wu, Ph.D., a Mayo Clinic neuroimmunologist and senior author of the paper. "Our study shows for the first time that TDP-43 is a potential ligand for microglial TREM2. Further, we found that this interaction mediates microglial TREM2 sensing and clearance of pathological TDP-43 protein.

Using samples donated to Mayo Clinic's Brain Bank for Neurodegenerative Disorders, as well as mouse models, biochemistry, confocal microscopy, and computational simulations, researchers showed that a receptor on microglial cells, called TREM2, can clear a protein that builds up in the brains of patients with ALS. Image created with BioRender.

As a ligand, TDP-43 binds to the TREM2 receptor, which is important for microglia cells to clear up the protein. Using biochemistry, computational simulations, confocal microscopy, mouse models, and samples from the Mayo Clinic Brain Bank for Neurodegenerative Disorders, the researchers were able to decipher the interaction between TREM2 and TDP-43, thereby potentially revealing a target for therapy for ALS.

"The mechanisms underlying ALS initiation and progression are poorly understood," says Dr. Wu. "Microglia comprise a unique subset of glial cells and are the principal immune cells in the central nervous system. Our current findings point out microglial TREM2 as a potential therapeutic target for ameliorating TDP-43-related neurodegeneration, including ALS."

The Neuroimmune Interaction in Heath and Disease Laboratory led by Dr. Wu plans to delve into the exact binding sites of human TDP-43 and the TREM2 receptor. They also want to investigate a specific population of microglia that seem to be supercharged to remove TDP-43. And the eventual goal is to explore if TREM2 activators might be a candidate for treatment in mouse models of ALS, which is a first step toward potentially treating human disease.

Funding for this work was provided by the National Institutes of Health. In addition to Dr. Wu, co-lead authors are Manling Xie, a Ph.D. student in Mayo Clinic Graduate School of Biomedical Sciences, and Dr. Yong U. Liu, formerly in Dr. Wu's lab and now at South China University of Technology. The research is made possible through a team effort, including Guojun Bu, Ph.D.; and Dennis Dickson, M.D., from the department of neuroscience at Mayo, Yuan-Ping Pang, Ph.D.; and Liewei Wang, M.D., Ph.D., from the department of molecular pharmacology and experimental therapeutics at Mayo Clinic; in addition to Mark Mattson, Ph.D., from Johns Hopkins University. See the paper for a complete list of authors.

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The dawning of regenerative neurosurgery https://newsnetwork.mayoclinic.org/discussion/the-dawning-of-regenerative-neurosurgery/ Thu, 29 Jul 2021 13:30:00 +0000 https://regenerativemedicineblog.mayoclinic.org/?p=3067 Regenerative neurosurgery is poised to transform care of neurological disorders that previously had little hope for improvement, according to a Mayo Clinic review published in The BMJ. Healing diseases of the central nervous system remains a highly coveted but formidable challenge, Terry Burns, M.D., Ph.D., a neurosurgeon scientist at Mayo Clinic, writes in a synopsis […]

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Regenerative neurosurgery is poised to transform care of neurological disorders that previously had little hope for improvement, according to a Mayo Clinic review published in The BMJ. Healing diseases of the central nervous system remains a highly coveted but formidable challenge, Terry Burns, M.D., Ph.D., a neurosurgeon scientist at Mayo Clinic, writes in a synopsis of regenerative medicine research. His synopsis spans neurosurgical efforts to treat neurodegenerative diseases, stroke and spinal cord injury.

After decades of developing and refining new regenerative tools and methodologies, Dr. Burns theorizes that neurosurgery is positioned to advance new therapies that unleash the body's ability to repair diseased tissues and cells.

Terrence Burns, M.D., Ph.D.

"Regenerative neurosurgery provides access to the central nervous system or its surrounding structures to preserve or restore neurological function," says Dr. Burns. "Strategic multidisciplinary efforts will be critical to harness complementary technologies and maximize mechanistic feedback, accelerating iterative progress toward cures for neurological diseases."

Expanding the regenerative medicine toolkit

The human neurological system is a complex web of more than 100 billion neurons connected by over a quadrillion nerve junctions known as synapses. For centuries, medical science considered nerve patterns fixed and incapable of adapting, changing or healing. As a result, the prognosis has been poor for restoring diseased neurons found in conditions such as Parkinson's disease; Lou Gehrig's disease, or amyotrophic lateral sclerosis (ALS); and multiple sclerosis.

The emerging field of regenerative medicine, with its focus on repairing, replacing or restoring damaged cells and tissues, is galvanizing clinical innovation. The discovery of embryonic stem cells that can transform into different types of cells, neural stem cells found in the nervous system, and induced pluripotent stem cells that can be reprogrammed to become different types of replacement cells help expand the regenerative toolkit for repairing central nervous system disorders.

"The rise of stem cell technologies over the past 25 years has energized clinical hopes of regenerative cell therapies," writes Dr. Burns. "Neurosurgery offers an avenue for directed cell implantation into the sites of disease within the brain and spinal cord."

Early clinical trials at Mayo Clinic are probing whether mesenchymal stem cells derived from adipose, or fat, tissue could provide growth factors and anti-inflammatory properties to protect nerve cells from dying, thereby halting disease progression. Mesenchymal stem cells are adult stem cells that have been well-studied. Results of a phase 1 clinical trial at Mayo Clinic discovered that 30% of ALS patients stabilized after mesenchymal stem cell intervention. Mayo Clinic also is studying the effects of stem cell therapy on spinal cord injury. A case study of the first person enrolled in a phase 1 clinical trial found the patient regained some function after mesenchymal stem cell lumbar injections and physical and occupational therapy.

"These are some promising examples of patients who have regained function or seen their neurodegenerative disease stabilize after participating in neurosurgical trials of regenerative therapies," says Dr. Burns. "However, this remains a relatively young field and much more work is needed to refine strategies and ensure the most appropriate patients are treated with the most effective therapies at the right time. Because the human brain is so unique, there are no ideal animal models for most neurological diseases, and no substitute for pioneering studies in human patients to push things forward."

Dr. Burns says it's imperative that the most advanced technologies, including artificial intelligence, machine learning and biomarkers, are used to help identify which patients are most likely to benefit from regenerative therapies in clinical trials.

"Carefully designed studies are needed to ensure new therapies are safe. It's important to figure out what is going to create an environment that helps regenerative therapy work best," says Dr. Burns. "A lot of critical work still lies ahead to safely and effectively bring the promise of regenerative therapies into clinical practice for neurological diseases."

Given a historically poor ability to accurately predict or sensitively measure small changes in patient outcomes for most diseases, most neurosurgical trials to date have been focused on demonstrating safety. As a result, progress has been slow. However, the pace of clinical trials is increasing, and some encouraging advancements are being reported in areas such as gene therapies for rare genetic conditions.

"It is exciting that we now have a robust and growing inventory of regenerative neurosurgical tools from cell and gene therapies to devices and infusions. As biomarker feedback and machine learning tools come online to better individualize therapies and more quickly recognize patterns of benefit, progress will accelerate further. I think the next decade is going to be very exciting for regenerative therapies, finally demonstrating their value to clinical practice," Dr. Burns says.

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Science Saturday: How regenerative medicine is advancing ALS research https://newsnetwork.mayoclinic.org/discussion/science-saturday-how-regenerative-medicine-is-advancing-als-research/ Sat, 29 May 2021 06:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=307668 May is ALS Awareness Month, a time to reflect on the role of regenerative medicine research in advancing understanding and treatment of  amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease. This neurodegenerative disorder causes nerve cells in the brain and spinal cord to die, blocking signals to the muscles. That results in paralysis that robs […]

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May is ALS Awareness Month, a time to reflect on the role of regenerative medicine research in advancing understanding and treatment of  amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease. This neurodegenerative disorder causes nerve cells in the brain and spinal cord to die, blocking signals to the muscles. That results in paralysis that robs a person of the ability to walk, talk and breathe. Because there is no cure, ALS eventually leads to respiratory weakness and death.

Nathan Staff, M.D., Ph.D.

"There's a huge urgency to find new therapies that help patients with ALS because currently what we have is not sufficient. Patients are eagerly awaiting answers that address their unmet needs. We need to quickly and safely deliver new, validated treatments to those who are afflicted. That motivates our team to get out of bed every morning and work on it as hard as we can," says Nathan Staff, M.D., Ph.D., a neurologist, regenerative medicine expert and principal investigator on ALS stem cell research at Mayo Clinic.

New options are needed, because the drugs approved by the Food and Drug Administration (FDA) to treat ALS are not effective enough at slowing the course of the disease.

Seeking regenerative medicine solutions

A transformation is underway in health care that is shifting the focus of medicine from fighting disease to rebuilding health. At the forefront is Mayo Clinic's Center for Regenerative Medicine, which supports ALS research as part of its mission to develop and deliver innovative, curative therapies for patients.

ALS affects about 15,000 people in the U.S. Approximately 5,000 new cases are diagnosed every year, according to the The ALS Association and the Centers for Disease Control and Prevention. Roughly 1 in 10 cases of ALS are the inherited type that are linked to genetic mutations. However, 90% are a sporadic type that are without an obvious cause and presumed to be due to interactions between a person's genetics and environmental exposures. People over 40, smokers and men appear to be at a higher risk for the disease.

Mayo Clinic research seeks to unravel the complexities of ALS in hopes of revealing possible new treatments. Investigators are probing whether mesenchymal stem cells derived from adipose, or fat, tissue could provide growth factors and anti-inflammatory properties to protect nerve cells from dying, thereby halting disease progression. Mesenchymal stem cells are adult stem cells that have been well-studied. Results of a phase 1 clinical trial at Mayo Clinic found mesenchymal stem cell therapy is safe and warrants further study.

Anthony Windebank, M.D.

"It was clear that about 30% of ALS patients in the trial stabilized after mesenchymal stem cell therapy," says Anthony Windebank, M.D., deputy director of Discovery for Mayo Clinic's Center for Regenerative Medicine and principal investigator of the phase 1 clinical trial. "We also learned that patients who had been treated with mesenchymal stem cells early in their disease had the best outcomes. Our discovery shows potential for therapeutic benefit, but more research is needed to confirm that."

Building on the phase 1 clinical trial, Mayo Clinic researchers are testing stem cell therapy in a larger group of patients for a longer period of time. The study seeks to answer whether stem cells can slow the debilitating effects of ALS, and if so, why stem cell therapy works for some but not others.

"We are trying to understand what is driving the different responses. Is it the patient's genetics? Is it the immune system? Is it possibly the cells themselves and how they're reacting to the therapeutic environment? Our current studies try to understand the different factors that cause people to respond or not respond to mesenchymal stem cell therapy," says Dr. Staff, principal investigator of the phase 2 clinical trial for ALS.

The research team is optimistic that clinical trials at Mayo and around the world will someday bring new answers and new options for patients. In parallel, the discovery of genetic mutations also has spawned gene therapy clinical trials for patients with the inherited form of the disease.

"The types of trials and the types of possible solutions that are being put forth really kind of go after the ALS process in a number of different ways. Some drugs being tested are looking at the immune system. Others are looking at cellular pathways," says Dr. Staff. "There's been a lot of different approaches with the common aim of trying to help slow down the disease."

Mayo is collaborating with industry and other academic institutions to try to speed research that would lead to new therapies in the practice. But stem cell therapy research is still in the early stages. It is uncertain how long it will take to complete advanced clinical development, a critical step toward receiving FDA approval for new therapies to be used in daily clinical care.

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Mayo Clinic Q and A: COVID-19 and people with disabilities https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-q-and-a-covid-19-and-people-with-disabilities/ Fri, 15 May 2020 15:55:00 +0000 https://newsnetwork.mayoclinic.org/?p=271093 Dear Mayo Clinic: My father, who suffers from Lou Gehrig's disease, lives with me and my family, including three children. While my husband can work at home, I am still required to go on-site for my job. Although I practice social distancing, I am wondering if I need to do anything differently in caring for […]

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handicapped disabled man in wheelchair

Dear Mayo Clinic: My father, who suffers from Lou Gehrig's disease, lives with me and my family, including three children. While my husband can work at home, I am still required to go on-site for my job. Although I practice social distancing, I am wondering if I need to do anything differently in caring for my father so that I do not put him at higher risk for COVID-19 and more severe problems. He already has trouble catching his breath and coughing at times. Do I need to isolate myself to lower his risk, or do I need to do anything special to help keep him safe?

Answer: It is always challenging being a caregiver, especially for one with physical and neurologic issues. During the COVID-19 pandemic, it can be even more trying to take care of yourself and your loved ones. I applaud you for being mindful of what your father may need to ensure he ― and you ― stay healthy.

You are correct in recognizing that people with certain neurologic conditions and associated physical disabilities, such as Lou Gehrig's disease, spinal cord injury and multiple sclerosis, are not only at a higher risk for contracting COVID-19 but also developing severe respiratory problems related to COVID-19. This is because the muscles that help them breathe already may not be functioning normally.

For people like your father, who have a condition that causes paralysis, or weakens muscles in the chest, abdomen or diaphragm, it becomes difficult for them to remove lung secretions by coughing. As you stated, your father already has difficulty inhaling and filling his lungs with oxygen that is carried to the rest of his body. It also may be difficult to recognize whether he is having typical symptoms related to COVID-19 due to his difficulty generating a cough. For instance, a fever may be the only abnormal symptom that one with baseline respiratory muscle weakness presents with.

Consider these tips that will offer extra protection for your father ― or anyone with a physical disability:

  • Stay hydrated. It is important for patients with physical disabilities to stay hydrated to keep lung secretions thin. Drinking a bit more than normal also may help in warmer weather.
  • Maintain good nutrition. Eat a healthy, well-balanced diet to boost the immune system.
  • Perform deep breathing and "coughing exercises," which are controlled coughing maneuvers that help clear lungs.
  • Change position frequently. For people like your dad, changing position is beneficial since gravity is being used to help clear lungs.

Also, people with physical disabilities are encouraged to take extra safety measures regarding social distancing, especially if they use a wheelchair. When sitting in a wheelchair, their head is lower than people who are standing, so these people may be more vulnerable to respiratory droplets when an infected person coughs, sneezes or talks.

Even if you are being diligent with social distancing and hand-washing, if your father is in a wheelchair, he and you, as his caregiver, should consider these additional precautions:

  • Maintain a distance of at least 6 feet from others, when possible.
  • Wash the face and hands after being in public and after having in-person conversations.
  • Use an antibacterial solution to clean high-touch surfaces, such as wheels, brakes and push rims of a manual wheelchair chair, throughout the day. For a power wheelchair, use an antibacterial solution to clean the joystick, and any other controls, armrests, tray or any parts your hands touch.

If your father uses other assistive devices, like walkers or canes, be sure to regularly wipe those with antibacterial products, too. If your father relies on a ventilator, you will want to be diligent about cleaning and disinfecting the medical equipment, and changing the filters as directed by the manufacturer, too. As a caregiver, you will want to wear a mask when caring for your father. You also will want to wear an eye shield if you are suctioning his oral and respiratory secretions. Lastly, I also would recommend that you develop a backup plan, including identifying an alternative caregiver, in the event that you or your husband become ill and cannot care for your father.

You also may want to have a conversation with your father's health care provider to confirm what symptoms or issues you want to be mindful of that could warrant a call to 911.

In the meantime, continue to practice social distancing and good hand hygiene to protect yourself and your loved ones from COVID-19.  Dr. Kristin Garlanger, Physical Medicine and Rehabilitation, Mayo Clinic, Rochester, Minnesota


For the latest updates on the COVID-19 pandemic, check the Centers for Disease Control and Prevention website. For more information and COVID-19 coverage, go to the Mayo Clinic News Network and mayoclinic.org.

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“I Just Didn’t Understand”: On a Mission to Cure ALS https://newsnetwork.mayoclinic.org/discussion/i-just-didnt-understand-on-a-mission-to-cure-als/ Mon, 06 Jan 2020 12:00:00 +0000 https://individualizedmedicineblog.mayoclinic.org/?p=8379 That's a common experience for people who lose loved ones to ALS, a devastating neurodegenerative disease with no cure. But Dr. Belzil's next step was uncommon: Returning to school to pursue a doctorate in neuroscience, with a focus on ALS. "I decided to take this experience as a mission to find a treatment for this […]

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Veronique Belzil, Ph.D.

For Veronique Belzil, Ph.D., the fight against amyotrophic lateral sclerosis (ALS) is personal. In 2000, while working as a psychologist in Canada, she watched her husband's uncle succumb to the disease. "The progression was so fast and his condition was so sad," she says. "I just didn't understand how this could happen."

That's a common experience for people who lose loved ones to ALS, a devastating neurodegenerative disease with no cure. But Dr. Belzil's next step was uncommon: Returning to school to pursue a doctorate in neuroscience, with a focus on ALS. "I decided to take this experience as a mission to find a treatment for this terrible disease," she says.

Now, as an epigenomics researcher for the Center for Individualized Medicine at Mayo Clinic's campus in Florida, Dr. Belzil is paving the way for improved diagnosis and treatment of ALS. "We've made tremendous progress in terms of understanding the biology behind the disease," she says. "There is great hope for these patients."

Often known as Lou Gehrig's disease, ALS affects nerve cells in the brain and spinal cord, causing loss of muscle control. About 5,000 people in the United States are diagnosed with ALS each year. Diagnosis occurs around age 60, and average survival is three years. Although ALS can be inherited ("familial ALS"), most people with ALS don't have a family history of the disease ("sporadic ALS").

"We've made tremendous progress in terms of understanding the biology behind the disease. There is great hope for these patients."

Veronique Belzil, Ph.D.

Finding treatments for ALS requires first understanding how the disease develops so researchers know what to target. About 30 genetic mutations have been identified as playing a role, including a mutation known as C9orf72, which was discovered at Mayo Clinic's campus in Florida. The most common mutation associated with ALS, the C9orf72 variation explains a large proportion of familial ALS and a small proportion of sporadic cases.

However, in more than 80% of people with ALS, the disease has no known genetic cause. What’s more, people with the same genetic mutation can have very different disease characteristics. "That indicates there must be something else that triggers the disease," Dr. Belzil says.

The answer may well lie in the epigenome — the factors such as environmental triggers and gene regulators that influence how a gene is expressed. Early in her research career, Dr. Belzil decided to investigate epigenetic changes in people with ALS.

"This was a new direction that wasn't being explored a lot at the time," she says. "The epigenome is very dynamic. But if we can understand these dynamics, then therapeutic strategies can be developed to target the regulators of these actions. The goal is to reverse the epigenetic changes that lead to neurodegeneration."

"The epigenome is very dynamic. But if we can understand these dynamics, then therapeutic strategies can be developed to target the regulators of these actions. The goal is to reverse the epigenetic changes that lead to neurodegeneration."

Dr. Belzil

Solving the ALS riddle will take time. But Dr. Belzil and her colleagues have already learned a lot. In one recent study, the researchers identified numerous occurrences of an epigenetic mechanism known as DNA methylation in people with ALS compared to people without the disease. That study was the first to find that methylation changes in familial and sporadic ALS are generally distinct, although people within each group shared thousands of these aberrations.

"Our results are particularly important for sporadic ALS cases, as there is currently no known common cause," Dr. Belzil says. "Aberrant methylation may be key to understanding the disease and developing treatments."

Other epigenetic changes under investigation include histone modifications and small RNA regulation. All of this work can potentially lead to the discovery of an ALS biomarker — a measurable indicator that the disease is present. Right now, ALS is difficult to diagnose early because it can mimic other neurological diseases.

"Clinically relevant biomarkers would facilitate early diagnosis of ALS and predict prognosis," Dr. Belzil says.

Biomarkers are also important for clinical trials of new treatments. "There is a lot of variation in how ALS manifests in patients," Dr. Belzil says. "A biomarker can group patients appropriately to determine if a new therapy is having an effect within that group."

Outside of the laboratory, Dr. Belzil is active in the ALS Association, a patient advocacy group. Her efforts include speaking to patients and caregivers about ALS as well as participating in sponsored walks and other fundraisers.

"Awareness of ALS has grown, and more researchers are working on it now," Dr. Belzil says. "It is a devastating disease not only for patients but also for caregivers and family members. Understanding ALS and developing therapies will have a major impact on all people affected by the disease."

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Sandra’s story of living with Lou Gehrig’s disease https://newsnetwork.mayoclinic.org/discussion/sandras-story-of-living-with-als/ Mon, 30 Dec 2019 22:00:00 +0000 https://newsnetwork.mayoclinic.org/?p=258342 Sandra Murphy-Pak has been an artist and performer her whole life. But then the Gainesville, Florida, mother of three was diagnosed with Lou Gehrig's disease, which is also know as amyotrophic lateral sclerosis (ALS). An ALS diagnosis changed Sandra's life in many significant ways, but it hasn't ended her career as an artist. Instead, it's […]

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Sandra Murphy-Pak has been an artist and performer her whole life. But then the Gainesville, Florida, mother of three was diagnosed with Lou Gehrig's disease, which is also know as amyotrophic lateral sclerosis (ALS).

An ALS diagnosis changed Sandra's life in many significant ways, but it hasn't ended her career as an artist. Instead, it's prompting more creativity and some inspired ways of living with a progressive disease.

Watch: Sandra's story or living with ALS

https://youtu.be/CCTZISHa4oU

Journalists: Broadcast-quality video (3:18) is in the downloads at the end of this post. Please "Courtesy: Mayo Clinic News Network." 

Sandra's artwork has been featured in several galleries and exhibits. She also lectures medical students and health care clinicians about the role of art in healing.

Mayo Clinic in Arizona, Florida and Minnesota are certified Centers of Excellence by the ALS Association. Mayo Clinic is actively involved in ALS research.

Sandra Murphy-Pak, a patient living with ALS, also maintains a high quality of life by painting. Painting, feet, ALS, Lou Gehrig's disease, Amyotrophic lateral sclerosis, MayoClinicFL

Sandra is one of thousands of patients each year who donate tissue, fluid, cells and biological material needed for research. These donations help Mayo scientists like Dr. Tania Gendron understand the molecular origins of disease and identify genetic variations that can aid patient diagnoses. These donations also help discover potential targets for drugs.

Read more about the research and how patients can help spur the future of care for ALS.

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#MayoClinicRadio podcast: 1/12/19 https://newsnetwork.mayoclinic.org/discussion/mayoclinicradio-podcast-1-12-19/ Mon, 14 Jan 2019 15:00:39 +0000 https://newsnetwork.mayoclinic.org/?p=226666 Listen: Mayo Clinic Radio 1/12/19 On the Mayo Clinic Radio podcast, Dr. Jennifer Martinez-Thompson, a Mayo Clinic neurologist, discusses diagnosis and treatment options for amyotrophic lateral sclerosis (ALS). Also on the podcast, Dr. Molly Jeffery and Dr. W. Michael Hooten share new Mayo Clinic research on trends in opioid use. Dr. Jeffery is the scientific director of Emergency Medicine […]

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Dr. Jennifer Martinez-Thompson on Mayo Clinic RadioListen: Mayo Clinic Radio 1/12/19

On the Mayo Clinic Radio podcast, Dr. Jennifer Martinez-Thompson, a Mayo Clinic neurologist, discusses diagnosis and treatment options for amyotrophic lateral sclerosis (ALS). Also on the podcast, Dr. Molly Jeffery and Dr. W. Michael Hooten share new Mayo Clinic research on trends in opioid use. Dr. Jeffery is the scientific director of Emergency Medicine Research at Mayo Clinic, and Dr. Hooten is a Mayo Clinic anesthesiologist and pain medicine specialist. And Dr. Paul Brown, a Mayo Clinic radiation oncologist, explains a new radiotherapy approach aimed at preserving cognitive function for some brain tumor patients.

The post #MayoClinicRadio podcast: 1/12/19 appeared first on Mayo Clinic News Network.

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Mayo Clinic Radio: ALS https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-radio-als/ Thu, 10 Jan 2019 15:00:33 +0000 https://newsnetwork.mayoclinic.org/?p=226211 More than 15,000 Americans are living with Lou Gehrig's disease, also called amyotrophic lateral sclerosis (ALS), according to the Centers for Disease Control and Prevention. It's a progressive neurological disease that destroys nerve cells gradually, causing more and more loss of function over time. It often begins with muscle twitching and weakness in a limb, […]

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ALS medical illustrationMore than 15,000 Americans are living with Lou Gehrig's disease, also called amyotrophic lateral sclerosis (ALS), according to the Centers for Disease Control and Prevention. It's a progressive neurological disease that destroys nerve cells gradually, causing more and more loss of function over time. It often begins with muscle twitching and weakness in a limb, or slurred speech. Eventually, it affects control of the muscles needed to move, speak, eat and breathe. While there is no cure, treatments can slow its progression.

On the next Mayo Clinic Radio program, Dr. Jennifer Martinez-Thompson, a Mayo Clinic neurologist, will discuss diagnosis and treatment options for ALS. Also on the program, Dr. Molly Jeffery and Dr. W. Michael Hooten will share new Mayo Clinic research on trends in opioid use. Dr. Jeffery is the scientific director of Emergency Medicine Research at Mayo Clinic, and Dr. Hooten is a Mayo Clinic anesthesiologist and pain medicine specialist. And Dr. Paul Brown, a Mayo Clinic radiation oncologist, will explain a new radiotherapy approach aimed at preserving cognitive function for some brain tumor patients.

To hear the program, find an affiliate in your area.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

The post Mayo Clinic Radio: ALS appeared first on Mayo Clinic News Network.

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Mayo Clinic Radio: ALS / opioid research / new radiotherapy techniques https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-radio-als-opioid-research-new-radiotherapy-techniques/ Mon, 07 Jan 2019 14:56:22 +0000 https://newsnetwork.mayoclinic.org/?p=225651 More than 15,000 Americans are living with Lou Gehrig's disease, also called amyotrophic lateral sclerosis (ALS), according to the Centers for Disease Control and Prevention. It's a progressive neurological disease that destroys nerve cells gradually, causing more and more loss of function over time. It often begins with muscle twitching and weakness in a limb, […]

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More than 15,000 Americans are living with Lou Gehrig's disease, also called amyotrophic lateral sclerosis (ALS), according to the Centers for Disease Control and Prevention. It's a progressive neurological disease that destroys nerve cells gradually, causing more and more loss of function over time. It often begins with muscle twitching and weakness in a limb, or slurred speech. Eventually, it affects control of the muscles needed to move, speak, eat and breathe. While there is no cure, treatments can slow its progression.

On the next Mayo Clinic Radio program, Dr. Jennifer Martinez-Thompson, a Mayo Clinic neurologist, will discuss diagnosis and treatment options for ALS. Also on the program, Dr. Molly Jeffery and Dr. W. Michael Hooten will share new Mayo Clinic research on trends in opioid use. Dr. Jeffery is the scientific director of Emergency Medicine Research at Mayo Clinic, and Dr. Hooten is a Mayo Clinic anesthesiologist and pain medicine specialist. And Dr. Paul Brown, a Mayo Clinic radiation oncologist, will explain a new radiotherapy approach aimed at preserving cognitive function for some brain tumor patients.

To hear the program, find an affiliate in your area.

Miss the show?  Here's your Mayo Clinic Radio podcast.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

The post Mayo Clinic Radio: ALS / opioid research / new radiotherapy techniques appeared first on Mayo Clinic News Network.

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