New Research Brings Help, Hope to People With ALS

ALS is a devastating disease with no cure.

But researchers are working to change that. The increased awareness and donations provided by events like the ALS Ice Bucket Challenge—and by people like you—are making a real difference in the pace of discoveries, bringing us ever closer to the end of ALS.

Here are just a few examples of recent advancements in ALS research and technology:

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Advances in Brain-Computer Interface
ALS is a disease that attacks the body’s motor neurons. To put it in the simplest possible terms, that means the person’s brain slowly loses the ability to communicate with muscles throughout the body. Without that ability, the person is no longer able to consciously control their muscle movements. Eventually, that even includes the muscles that control speech, making it difficult for the person to communicate.

Researchers are working on a way to bypass this problem using a brain-computer interface (BCI). BCI uses sensors to detect activity in the brain. Though it can’t exactly see your thoughts, it can be programmed to detect different thought patterns.

That’s exactly what researchers in the Netherlands were able to do. Working with people with ALS, they were able to spell out words, giving them a voice. This BCI technology won the ALS Assistive Technology Challenge last December due to its great functionality – plug and play, comfortable to wear and more efficient than ever seen before.

Researchers in the U.S. are using BCI that also allows people with ALS to spell out the words they want to say. This unique program is training people to use BCI at their own home via telemedicine. This program will ultimately reduce the number of clinic visits, which is increasingly difficult as the disease progresses.

BCI technology is still in its early stages, but it holds great potential: perhaps in the future, BCI will enable people with ALS to not only communicate again, but actually control a wheel chair and other electronics in the home.

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Developing Biomarkers to Improve ALS Diagnosis
Diagnosing ALS can be difficult. There are no clear-cut tests to determine if someone has the disease, and the progression of the symptoms can look very different from one person to the next. Right now diagnosis takes about one year. We can do better!

Multiple efforts are ongoing to identify biomarkers, which are a substance in your body that can be tracked over time, like changes in blood, urine or cerebral spinal fluid (the fluid that surrounds and protects the brain and spinal cord). Biomarkers will not only help improve diagnosis times, but also help track disease progression and whether a drug hits its intended target in the body, all leading to more efficient clinical trials.

Exciting ongoing biomarker studies are underway, all racing to be the first ALS biomarker on the market. For example, changes in proteins found elevated in patient blood and cerebral spinal fluid, called neurofilament heavy chain, are close to release in the U.S. as a diagnostic ALS biomarker. A new biomarker that specifically detects a protein made by the C9orf72 expansion, the most common inherited ALS mutation, is under critical testing to complement an upcoming clinical trial targeting the C9orf72 mutation. Imaging biomarkers design to detect neuro-inflammation in the brain of people with ALS using combined brain imaging scans are being developed and optimized. All of these biomarker efforts and more are rapidly moving forward.

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Ice Bucket Challenge Leads to Gene Discoveries
Perhaps the biggest news of the past year in the field of ALS research was the discovery of a new ALS gene, called NEK1. It was identified by a massive international effort, Project MinE, headed by Drs. John Landers from Massachusetts Medical School and Jonathan Glass from Emory University in the U.S.

The study’s goal is to map the DNA profiles of over 15,000 people with ALS and 7,500 people who do not have the disease for comparison. Researchers found that people with ALS are more likely to have a mutation in the NEK1 gene, which ended up known as one of the largest most common genetic contributors of ALS. Funding from The Association is now supporting studies to take research to the next step – to understand how NEK1 causes disease.

Since the ALS Ice Bucket Challenge, four new ALS genes have been identified by large ongoing global “big data” projects such as Project MinE, Genomic Translation for ALS Care (GTAC), the New York Genome Center, Answer ALS and others – all working together and supported in some way by The ALS Association. Collaboration between these large initiatives are paramount!

Each new gene identified represents a promising new target for drug development. All the collaborative work from gene discovery to understanding disease pathways is bringing us ever closer toward finding treatments and a cure to end ALS. And it’s a direct result of donations from people like you through the Ice Bucket Challenge and other fundraising events.

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