CORDIS Project
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This project investigates the genetic factors contributing to Amyotrophic Lateral Sclerosis (ALS) using advanced machine learning techniques. It aims to identify significant genetic mutations and their interactions to improve understanding and treatment of this complex disease.
My aim is to understand the exact genetic contribution in every patient with Amyotrophic Lateral Sclerosis (ALS), a lethal disease with a life time risk of 0.3% and an urgent unmet therapeutic need.
I have recently shown a disproportionate large contribution from low-frequency genetic variants in ALS.
ALS is not simply a collection of unique rare diseases with a monogenetic cause nor is it a diagnostic continuum with a complex contribution of thousands of small effect factors.
ALS is in-between,…
UNIVERSITAIR MEDISCH CENTRUM UTRECHT
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