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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 and frontotemporal dementia (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 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, we aim to determine regulatory pathways affected by disease by implementing the use of spatial proteomics combined with transcriptomics and live imaging. The overarching goals of our work are to mechanistically understand the disease at the cellular level and to identify new therapeutic targets that can inform drug development for ALS and FTD.
My team's research is funded by My Name'5 Doddie Foundation, Motor Neuron Disease Association, Oxford University's John Fell Fund, Medical Sciences Division Pump-Priming Award.
If you are interested in collaborating or joining our group, do not hesitate to get in touch.
Current open positions
Research Assistant : check back here for a position opening soon!