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Ruxandra Dafinca

MSc DPhil

Senior Postdoctoral Research Fellow

Exploring dysfunctional pathways in neurons from ALS patients

My research focuses on modelling amyotrophic lateral sclerosis in neurons obtained by differentiating induced pluripotent stem cells (iPSCs) derived from patient fibroblasts.

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal adult-onset motor neuron disorder characterized by the degeneration of motor neurons in the brain and spinal cord, leading to death within 3-5 years. The recently discovered hexanucleotide intronic GGGGCC expansion in chromosome 9 open reading frame 72 (C9orf72) establishes a firm genetic link between ALS and FTLD, being classified as the most common cause of familial and sporadic ALS and FTLD,

In our lab, we use induced pluripotent stem cells (iPSCs) from the fibroblasts of ALS patients and differentiate them to motor neurons for functional investigations. The neurons obtained by iPSCs derivation have the advantage of carrying disease-specific genetic profiles and display characteristic neurodegenerative traits.

Previously, I investigated the phenotypes of motor neurons derived from ALS patients by looking at differences in nucleocytoplasmic transport and mitochondrial deficits. I have also used CRISPR/Cas9 genome engineering to correct the mutations in these patient lines.

With a Brain Science Fellowship, I am establishing a programme of research investigating the pathways that induce dysfunctional synaptic transmission in ALS/FTD neurons from patients.