Everyone with Facebook surely remembers when people were posting videos of themselves having ice cold water dumped on their heads. But, does everyone remember what it was for?
The Ice Bucket Challenge was actually initiated to raise money for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. This social media phenomenon raised $220 million for ALS research. One million of those dollars went to Project MinE. Project MinE has identified a specific gene associated with ALS, which is a major breakthrough in researching a prevention and cure! Project MinE’s goal is to analyze the DNA of at least 15,000 ALS patients and 7,500 control subjects. The DNA profiles of all 22,500 people will be compared.
ALS is a debilitating neurodegenerative disease in which the motor nerve cells in the spinal cord, brainstem and brain progressively deteriorate. These nerve cells are responsible for signaling muscles to work. As fewer signals are sent to the muscles by the dying nerve cells, progressive muscle weakness develops. The first symptoms of ALS are reduced strength in the arms and legs and difficulty speaking, swallowing and breathing. As the nerve cells send fewer signals to muscles, the muscles start to get smaller and weaker. Once the nerve cells die, the ALS patient becomes paralyzed. Respiratory failure is the most common cause of death in ALS patients, since the muscles that control breathing do not receive signals from nerve cells to work.
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Currently, there is no cure for ALS. More than 200,000 people are living with ALS. The life expectancy after an ALS diagnosis is three years, although some patients live much longer. It is unknown what causes ALS, but it has been determined that there is a genetic basis. Project MinE is dedicated to determining the genetic basis of ALS by identifying genes associated with ALS patients. By analyzing and comparing DNA profiles of 15,000 ALS patients and 7,500 control subjects, the hope is that researchers can determine links between differences in the genes of ALS patients. The ALS patients used in Project MinE’s research will come from the United States, Europe, Australia and other countries. In every country participating in the study, one or more ALS center is participating in the project. They contribute DNA from ALS patients and control subjects. These DNA profiles are sequenced and stored for ALS research.
Researching the genetic makeup of ALS patients, may lead to gene therapy as an effective treatment option for ALS patients. Gene therapy is the use of genetic instructions to produce a protein to treat a disorder. Gene therapy may be able to correct the fault in a defective gene in ALS patients and deliver a protein needed to prevent dying nerve cells. If it is determined that an ALS patient has a specific gene mutation, researchers can study what proteins are over or under represented in the nerve cells, which can lead to the opportunity to target an individual’s disease process. This is referred to as precision medicine.
