New insights into a rare genetic condition will be uncovered, thanks to new funding.
The Chan Zuckerberg Initiative has awarded $800,000 to Cardiff University researchers working with the Timothy Syndrome Alliance (TSA) to support research into Timothy Syndrome and CACNA1C-related disorders.
Timothy Syndrome is a rare genetic condition that is characterized by heart defects, webbing of fingers and toes, epilepsy, developmental delay and autism spectrum disorders. The condition affects fewer than 200 people worldwide.
These rare conditions are associated with mutations in a gene called CACNA1C, which is involved in calcium signalling in cells throughout the body.
"This grant recognises our award-winning ongoing collaboration with the Timothy Syndrome Alliance. It enables us to grow our knowledge about CACNA1C-related disorders alongside engaging the research community and raising awareness. We will build stronger ties between patients, researchers, and clinicians worldwide," said Dr Jack Underwood, Chair of the TSA Scientific Advisory Board and Clinical Research Fellow at the Cardiff University Neuroscience and Mental Health Innovation Institute.
As one of 30 grantees worldwide, the funds will be used to support the creation of a CACNA1C research platform, fostering understanding of the underlying mechanisms of the condition. It will further support interdisciplinary, collaborative research through the development of a global research network, which will assemble a patient and research community through funded international conferences, stakeholder engagement events, and a global researcher exchange program.
This funding demonstrates how vital this work is. Whilst patients with Timothy Syndrome and CACNA1C-related disorders represent a small population globally, by increasing our understanding of rare diseases, like this one, we can make a genuine impact on patients and their families.
"We want to thank the Chan Zuckerberg Initiative for supporting the TSA, enabling us to expand our reach and knowledge," added Dr Underwood.
