In the past few years, there have been many new discoveries about ALS. Thanks to the success of the Ice Bucket Challenge in 2014, researchers have been able to fund a wide range of groundbreaking ALS studies. These studies have led to major breakthroughs, including the discovery of a new gene that contributes to ALS. Scientists have also been able to do more research into what causes ALS. Many of these discoveries are still being studied, and it may be a while before the research is ready to be used, but it’s all looking very promising. Here’s how ALS research stands in 2017.
New ALS Gene Identified
In 2016, scientists announced that they had discovered a new gene that contributes to ALS. Researchers discovered this gene, NEK1, during the largest-ever study of inherited ALS. The study involved 80 researchers from 11 countries, and it included both familial and sporadic ALS patients. Familial patients are those who inherited the disease from their parents, while sporadic patients do not have a family history of ALS. About ten percent of ALS cases are familial and ninety percent are sporadic.
During the study, scientists looked for ALS risk genes in 1,000 families with a history of ALS, and they also studied 13,000 sporadic individuals. The study found that the NEK1 gene was present in both familial and sporadic ALS patients. Altogether, the NEK1 gene links to three percent of ALS cases.
Scientists are now studying how the NEK1 gene is inherited and whether the gene mutation alone causes ALS. The ALS Association is funding the research of two doctors who are developing mouse models. These models will help scientists better understand how the NEK1 gene affects ALS. Once these models are developed, they will be made available to the ALS research community. After researchers learn more about the NEK1 gene, they hope to start developing drugs that will target the gene.
Advances in Brain-Computer Interface Technology
Researchers have made huge strides in advancing brain-computer interfaces (BCI). BCIs helps people with ASL communicate. Because ASL attacks the body’s motor neurons, ASL patients’ brains lose the ability to communicate with their muscles. This makes talking extremely difficult.
Brain-computer interfaces currently detect activity and patterns in the brain. Researchers are now working on BCIs that will allow ASL patients to spell out words. The technology may potentially let patients communicate with doctors from their own homes. This will be helpful for patients who are in the later stages of the disease, when it’s difficult for them to leave their home. Researchers are still in the early stages of developing this technology, but once it’s finished, it will be an amazing tool for patients with ASL.
Promising New Biomarkers
It currently takes about a year to diagnosis a patient with ALS. This is because symptoms vary from one person to another, and there are no tests that clearly state if a patient has ALS. Researchers are hard at work finding ways to diagnosis patients sooner to get them the treatment that they need.
Researchers believe that biomarkers will help them get a quicker diagnosis. Biomarkers are substances that change in the body over time. For example, chemical changes in the blood are a type of biomarker. The ALS Association funds many biomarker studies because they believe they are vital to moving the field forward.
In March of 2017, researchers discovered a promising new biomarker for the C9orf72 expansion, which is the most common cause of inherited ALS. The C9orf72 gene typically repeats itself 30 times in our DNA, but in people with ALS, this gene repeats itself hundreds of times.
Since researchers first made this discovery in 2011, they have been working on a biomarker that targets the C9orf72 expansion. Now, researchers believe that they have created a biomarker that will detect a protein made by this expansion. This biomarker is now being tested, and if it works, it will be a critical part of a new clinical trial for the c9orf72 mutation.
Scientists are also developing new imaging biomarkers. These biomarkers measure inflammation in ALS patients’ brains. This biomarker was first used successfully in 2016, and scientists are now hoping to develop MRI and PET imaging tools that will act as readouts for inflammation. These will be important tools for expediting clinical trials. Since the first test was a success, scientists are well on their way to meeting this goal.
New Insights into FUS Mutation’s Role in ALS
A mutant FUS gene can lead to familial ALS, but before now, researchers were not sure the mechanisms behind how this mutation caused ALS. Scientists knew that the mutant FUS gene harmed motor neurons, but they were unsure if it also hurt other cells. Now, thanks to research by two scientists in Strasbourg, France, there have been new insights into how this gene works.
The scientists created mouse models, and in the models, they turned the mutant FUS gene on and off within a motor neuron. While they did that, they had the mutant FUS gene remain active in other cells. From this experiment, they were able to surmise that mutant FUS genes harm both motor neurons and cells in the central nervous system. Thanks to this research, scientists and doctors now know that the therapies they use for ALS must include the central nervous system’s cells. Scientists have already begun applying this new discovery to their research.
ALS Research and ALS Patients
There have been many strides forward in ALS research in recent years, and promising new treatment options are being developed. There have also been many new insights into what causes ALS. As researchers continue developing their treatments, there should be even more positive news in the future.
These new treatments will soon be able to help patients with ALS, but if you or a loved one suffer from ALS and need help now, Harbor Light Hospice is here to help. Give us a call or email us, and we will provide you with the support and information that you need.
