As originally reported in Mayo Clinic, Dr. Veronique Belzil realized she wanted to leave her job as a psychologist to find a cure for amyotrophic lateral sclerosis when she saw the disease claim the life of her husband’s uncle. The profound effects of the disease left her dumbfounded. She said to the Mayo Clinic that she just didn’t understand how this could happen. There were no options.
Amyotrophic Lateral Sclerosis (ALS)
ALS is a rare neurological disease known for its rapid and intensive onset. The disease causes damage to nerve cells, which are responsible for communication within the body between the spinal cord, brain stem, and brain. This causes the patient to lose control of vital organs and muscles and eventually lose the ability to breathe. On average patients live for three years after diagnosis. There is no cure.
The success of the Ice Bucket Challenge on social media not only brought ALS into popular culture; it also brought in $220 million dollars which launched research further till they discovered a critical gene mutation responsible for many of the inherited cases of the disorder. Since then, ALS has been featured in the #CuresForAll campaign, with billboards in Times Square describing the disease.
Belzil dove into the complexities of the rare disease because she knew there was a real chance she could cure it. However, the complexity of the disease must be understood. Already 30 gene mutations have been linked to the disease, but in 80% of cases, the disorder is not related to genetics. Further, two patients with the same mutation could have drastically different manifestations of the disease. The majority of cases are thought to be linked to environmental causes which trigger different parts of genes, known as the epigenome. Belzil decided to make the epigenome her focus. Epigenomics was not the angle most researchers were taking for ALS, in part because it is a very dynamic and complex field.
“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.”
Her work taps into the unstudied, thus quickly unraveling new possibilities. Some new research leads include the occurrence of an epigenetic mechanism called DNA methylation, something they speculate could be of importance for understanding sporadic ALS cases. Belzil said,
“We’ve made tremendous progress in terms of understanding the biology behind the disease. There is great hope for these patients.”
Belzil puts her time into the lab, but also makes sure to stay connected to patient groups. The rare disease world is small, and staying close is important to progress. The full story of ALS has many years left to be unraveled; scientists know they are prodding the surface of a very complex disease. However, finally, there is promising hope.
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