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Contact information


ruxandra.dafinca@ndcn.ox.ac.uk

Collaborators

Ruxandra Dafinca

MSc DPhil

Brain Science Research Fellow and Group Leader

Exploring dysfunctional signaling pathways in neurons from ALS/FTD patients

Research summary

I am leading a programme of research investigating the intracellular signaling pathways leading to synaptic deficiencies in amyotrophic lateral sclerosis (ALS)/FTD in neurons derived from patient induced pluripotent stem cells (iPSCs).

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. A hexanucleotide intronic GGGGCC expansion in chromosome 9 open reading frame 72 (C9orf72) establishes a firm genetic link between ALS and frontotemporal dementia (FTD), being classified as the most common cause of familial and sporadic ALS/FTD. 

In 2013, I have developed and implemented in our laboratory the differentiation of iPSCs from ALS/FTD patients to motor and cortical neurons in a dish. Using iPSC-neurons, I aim to determine regulatory pathways affected by disease by implementing the use of spatial proteomics combined with transcriptomics and live imaging. The overarching goal of my work is to identify new therapeutic targets that can inform drug development for ALS/FTD. 

If you are interested in joining the group or would like to discuss a collaboration, do not hesitate to get in touch.