Ruxandra Dafinca

My project aims to understand the role of specific genetic mutations in the function of spinal motor neurons in Amyotrophic Lateral Sclerosis patients and to ultimately correct the dysfunctions induced by the mutations. To achieve this, I use stem cell technology to generate stem cells from patients' skin samples and drive their fate to become motor neurons in the dish. Once the stem cells become mature motor neurons, I study the essential functions that are disturbed by genetic mutations, such as intracellular transport and signalling. I also use genomic engineering (CRISPR/Cas) to correct these disease-causing mutations, allowing me to identify the exact pathways affected by the mutations, with the scope of testing drugs that correct these functions to improve neuronal health and delay degeneration in ALS.

Neurodegeneration, Stem cell research