Amyotrophic Lateral Sclerosis (ALS) is a neurological disorder that affects motor neurons in the spinal cord and brain which causes progressive degeneration of muscle control. The onset of ALS usually starts between the ages of 40 to 70 and affects approximately two to seven individuals per 100,000 people globally, with an average survival time after diagnosis ranging from two to five years. ALS is hard to diagnose at an early stage due to similar symptoms with other diseases and no one single test to specifically diagnose ALS. Several diagnosis methods include electromyogram, nerve conduction study, MRI, blood and urine tests, lumbar puncture, muscle and nerve biopsy. The absence of definitive biomarkers complicates early diagnosis and monitoring of disease progression, while the subtle and variable symptoms often leads to misdiagnosis or delays in care.
This research introduces a novel predictive model for ALS that leverages deep learning techniques alongside patient-derived induced pluripotent stem cells (iPSCs). By employing advanced machine learning algorithms, the study analyzes cellular and genetic data from iPSCs to uncover patterns associated with ALS progression. It also incorporates image analysis of motor neurons derived from iPSCs of both ALS patients and healthy individuals, utilizing a convolutional neural network (CNN) model that achieves classification accuracy.
This innovative approach aims to deepen the understanding of ALS mechanisms and facilitate early diagnosis and personalized treatment strategies, potentially transforming the management of neurodegenerative diseases. The research institute is seeking for clinical studies partners and pharmaceutical companies for collaboration.
The global neurodegenerative disease therapy market is valued at around $30 billion to $40 billion and is expected to expand significantly over the coming years, with projected annual growth rate (CAGR) of approximately 6% to 8% through the next decade, driven by increasing prevalence of neurodegenerative disorders, advancements in research and technology, and growing demand for effective treatments. Major segments within the market include therapies for Alzheimer’s disease, Parkinson’s disease, Amyotrophic Lateral Sclerosis (ALS), Huntington’s disease, and Multiple Sclerosis (MS).
By using patient-derived iPSCs, the method reflects an individual’s genetic makeup, allowing precise modeling of ALS-affected motor neurons. The integration with a convolutional neural network (CNN) provides high diagnostic accuracy (AUC of 0.97), outperforming human analysis. This approach holds promise for early diagnosis, personalized treatment, and advancing our understanding of neurodegenerative diseases through non-invasive, patient-specific models.