Studying stem cells to better understand Dystonia
Meet the Researcher - Laura Abram (Medicine 2023-)
Laura Abram (Medicine 2023-) is in the second year of her PhD at Cardiff’s Neuroscience and Mental Health Innovation Institute.
Her work is looking into Dystonia, a neurological condition which causes uncontrollable muscle spasms and is estimated to affect 100,000 people in the UK.
Laura tells us about her work to better understand the disorder with the ultimate aim of developing a cure.
"Dystonia is a neurological disorder which causes involuntary muscle contractions, resulting in abnormal posture or repetitive movements. These symptoms can be very painful and can start at any age. Some people with dystonia also experience mental health symptoms, sleep disturbance, and cognitive impairments.
"There is currently no cure, and treatments aim to manage symptoms for each individual or involve invasive implant surgeries. To better direct treatment, it is important that we understand precisely what is causing the disorder.
"I studied Medical Engineering at Swansea University and Stem Cell Technologies and Regenerative Medicine at the University of Nottingham and am now using stem cells to investigate how the brain functions in Myoclonus Dystonia.
"Caused by a genetic mutation, this form of dystonia results in abnormal production of a specific protein.
"Although we know which protein is affected by Myoclonus Dystonia, its function in the brain or how this leads to patients’ symptoms remains unclear.
"To answer these questions, we are looking at how this protein affects different cell types within the brain. We collect blood samples from patients to create ‘induced pluripotent stem cells’ which we then use to generate neurons.
"Neurons are a type of brain cell that fire electrical signals across a network. We can measure their electrical activity within a network or in individual cells.
"This allows us to look for specific aspects of their activity that may be affected by Myoclonus Dystonia.
"We are also investigating the role of this protein in astrocytes, which are the supporting cells of the brain.
"Donors are at the heart of this research, as we rely on their vital funding to continue using our equipment.
"Thanks to them, we hope to gain further insight into Myoclonus Dystonia.
"Through learning about the affected protein, we can better understand the cause of the disorder and will be a step closer to a cure."
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