New neuroscience methods and Timothy syndrome

Professor Jeremy Hall, Director of Division of Psychiatry and Clinical Neuroscience, Director of Neuroscience and Mental Health Research Institute, Hon. Consultant Psychiatrist, Cardiff University

Professor Adrian Harwood, PhD, FRSB, Co-Director of Research, Co-Director of the Neuroscience and Mental Health Research Institute, Cardiff University

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One of the great challenges in studying conditions which affect the brain is the difficulty in getting access to the tissue of interest. 

In order to study Timothy syndrome and related conditions, we at Cardiff University have adopted a range of new neuroscience approaches. One of these is to generate brain cells from patients with genetic changes in CACNA1C “in a dish”. Using advanced techniques we can take a simple blood or skin sample and turn these cells into the patient’s own brain cells in a petri dish.

With techniques like this we are beginning to understand how changes in CACNA1C affect brain cells. We are able to look at the alterations in brain cell growth and firing in Timothy syndrome in a dish. We have then been able to use these approaches, combined with studies in animals, to identify new possible routes to modify these changes.

This exciting, state-of-the art neuroscience research is built on our collaborations with families affected by Timothy syndrome. We very much hope these methods will eventually hold up the promise of new treatments for those affected by the condition.