Amyotrophic lateral sclerosis (ALS)

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Displaying 1-1 out of 1 doctors available

Last Name Initial: J

  1. Stephen A. Johnson, M.D.

    Stephen A. Johnson, M.D.

    1. Neuromuscular Disease Specialist
    1. Phoenix, AZ
    Areas of focus:

    Electromyography, Myopathy, Guillain Barre syndrome, Amyotrophic lateral sclerosis, Motor neuron disease, Chronic infla...mmatory demyelinating polyradiculoneuropathy, Myasthenia gravis

Research

Mayo Clinic is on the forefront of researching a cure for ALS. Researchers at Mayo Clinic study the possible causes of ALS. This includes identifying biomarkers in blood and cerebrospinal fluid that might someday help to identify and monitor loss of motor neurons in ALS. The biomarkers also may help monitor response to treatment.

Mayo Clinic research also includes finding genes that might cause or contribute to the development of ALS. Together with teams at other institutions, Mayo Clinic researchers discovered the C9orf72 hexanucleotide repeat expansion (C9), a gene variation that can cause ALS and frontotemporal dementia. This gene variation is the most common cause of ALS. The discovery allowed Mayo Clinic researchers to find a way to predict ALS and other brain aging disorders.

Research at Mayo Clinic into the genetic aspects of the disease is ongoing. It's hoped that future discoveries lead researchers to find new, effective treatments for people with ALS. Find out more about ALS research at Mayo Clinic in the Department of Neurology Research.

ALS Gene

Vivien Williams: In this lab, Dr. Rosa Rademakers and her team have been on a quest to find a cause of two deadly diseases - Lou Gehrig's disease or ALS and frontotemporal dementia or FTD, which is a type of dementia unlike Alzheimer's disease in that it causes personality changes not memory loss.

Rosa Rademakers, Ph.D., Neuroscience Research, Mayo Clinic: It was really kind of a race to try and find this.

Vivien Williams: For four years, they studied the genetic information of families who had ALS and FTD.

Dr. Rademakers: One day, we were looking at the computer screen and all of sudden there was this special pattern that was only present in the patients and not present in the healthy individuals. And at that moment, we knew that this was very likely to be it.

Vivien Williams: A never before seen genetic mutation.

Dr. Rademakers: And you can see that this pattern here, where the peaks are big and then they are small. This strange pattern is not present in the two healthy individuals.

Vivien Williams: Dr. Rademakers says before her discovery there were some genes found that were thought to cause about 20% of all ALS and FTD cases, but her discovery explains even more - up to half of all ALS cases and about 1/3 of all FTD cases.

Dr. Rademakers: Every time we identify a new gene, we understand a little bit more about what it is that's causing the disease in these patients. What it is that makes these brain cells die.

Vivien Williams: Dr. Rademakers says this discovery will open avenues of research that may one day lead to effective therapies to help improve and prolong the lives of victims of these diseases.

Dr. Rademakers: Our hope is that we find methods to identify who will develop the disease, so that we can interfere with it before it's too late, before the important brain cells have died.

Vivien Williams: For Mayo Clinic News Network, I'm Vivien Williams.

In addition, Mayo Clinic researchers study potential new treatments for people with ALS and ALS-related diseases. They also participate in clinical trials of potential new medicines.

To develop effective treatments, researchers need to better understand ALS. There are many projects available to people with ALS to volunteer and donate blood and spinal fluid to help find a cure.

Find out more about ALS clinical trials at Mayo Clinic.

Publications

See a list of publications about ALS by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine.

Research Profiles

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By Mayo Clinic Staff

Amyotrophic lateral sclerosis (ALS) care at Mayo Clinic

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Diagnosis & treatmentCare at Mayo Clinic
April 10, 2024
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Amyotrophic lateral sclerosis (ALS)

Research: It's all about patients

[MUSIC PLAYING]

Joseph Sirven, M.D., Professor of Neurology, Mayo Clinic: Mayo's mission is about the patient. The patient comes first. So the mission and research here is to advance how we can best help the patient, how to make sure the patient comes first in care. So in many ways, it's a cycle. It can start with as simple as an idea worked on in a laboratory, brought to the patient bedside, and if everything goes right — and let's say it's helpful or beneficial — then brought on as a standard approach. And I think that is one of the unique characteristics of Mayo's approach to research — that patient-centeredness — that really helps to put it in its own spotlight.