A groundbreaking development in the detection of amyotrophic lateral sclerosis (ALS) could soon allow for diagnosis through a simple blood test. Researchers have identified eight genetic markers associated with the condition, potentially revolutionizing ALS diagnostics.
ALS, the most prevalent form of motor neuron disease, severely impacts individuals’ ability to walk, speak, swallow, and breathe — symptoms that progressively worsen and ultimately lead to fatality. While there is currently no cure, therapies such as physiotherapy can alleviate these challenging symptoms.
Traditionally, ALS diagnosis relies on symptom evaluations, nerve electrical activity tests, and brain imaging, which often delays timely treatment due to the need for thorough monitoring of symptom progression, according to recent findings from experts at a prominent research organization.
To expedite the diagnosis process, researchers have been analyzing blood samples from both ALS patients and healthy individuals. This investigation led to the identification of eight distinct genetic markers present at varying levels in each group. Further analysis involving 119 ALS patients and 150 healthy individuals confirmed that these markers consistently differ between the two populations, linking them to neuron survival, brain inflammation, memory, and learning.
The research team employed machine learning techniques to differentiate between ALS patients and healthy controls based on these markers in a study involving 214 participants. When tested on an additional group of 55 participants, the model achieved an impressive accuracy, identifying 96% of ALS cases and 97% of individuals without the disease.
The researchers project that this promising test could be made available for under $150 within two years, pending further validation. If successful collaboration with the right diagnostic laboratory occurs, the test might be operational in as soon as one year.
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