By Brian L Brink
On Thursday, April 6, Akshata Almad, Ph.D., visited Thiel College to speak about her research into Amyotrophic Lateral Sclerosis, also known as ALS.
Almad is a research associate in the department of neurology at Children’s Hospital of Philadelphia. She has been studying ALS for the past seven years and is currently working on getting her research findings published.
She described ALS as a motor neuron disease that affects two to three in every 100 thousand people and usually starts showing symptoms between the ages of 21 and 84 years old. Almad also said the most people die from the disease with two to four years after symptoms first show. However, she said that there are very rare cases where people, such as Steven Hawking, live over ten years after first diagnosed.
Almad also talked about the genes that cause ALS and that ten percent of the people have a family history of the disease. 90 percent of the people who have it have sporadic genes that caused the mutation. She also said that 15 percent of those affected will also have dementia to go with it.
According to Almad researchers have been modeling the disease for years using different animals such as mice. In the mouse model she said that the mice are affected at 90 days old and usually live to about 120 days old before reaching the end stage. She said that scientists have found away to delete the mutation in different places where it shows up and by deleting it the mouse will live longer. However, she said that they can’t “knock-out” all the cells with it because they won’t gain their function back.
Almad said that Riluzole is the only one Food and Drug Administration, or FDA, approved drug on the market to treat ALS and that it will only extend the life of those using it by three months. Another drug that she spoke of is Radicava, which is drug from Russia that will extend life by six months. However, Radicava is not FDA approved in the US.
Almad’s own research was in connexins, which according to her is a protein that helps form gap-junctions between cells. However, this protein can be mutated cause ALS to develop and by introducing a blocker of this protein there have been promising results in in-vitro cells.
Almad said that there are studies going on that focus nutrition, exercise and pulmonary care in hopes of slowing the disease. She also said that there is a new gene therapy happening with monkeys going on currently.
“There was this disease with no therapy to help,” Almad said when explaining why she began her ALS research at John Hopkin’s University.