A recent study has shown promising results in the diagnosis of Amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease, through the use of a blood test. ALS is a progressive condition that affects motor functions such as walking, speaking, swallowing, and breathing, leading to eventual fatality. Currently, diagnosis of ALS involves symptom assessments, nerve activity tests, and brain scans, which can be time-consuming and delay treatment.
Researchers have identified eight genetic markers that are associated with ALS and have found that these markers differ in levels between individuals with ALS and those without the condition. By analyzing blood samples from 119 people with ALS and 150 people without ALS, the researchers were able to develop a machine learning model that accurately identified 96% of ALS cases and 97% of individuals without the condition based on these genetic markers.
The potential of a blood test for ALS diagnosis is seen as a significant advancement in the field, with experts like Ahmad Al Khleifat of Kings College London praising the test's ability to differentiate between those with and without ALS. The estimated cost of the test is less than $150, and researchers hope to make it available within the next two years pending further validation.
While the study results are promising, further research and validation on a larger group of individuals are needed before the test can be widely implemented. Researchers are optimistic about the potential impact of this blood test in improving early diagnosis and treatment of ALS, but emphasize the importance of continued research and collaboration with diagnostic labs to bring this test to the market in a timely manner.