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Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders, including Timothy Syndrome and LongQT8, and to support the families and carers of those diagnosed.

CACNA1C is a gene that provides the code for a protein found in cells throughout the body. This protein manages the movement of calcium in and out of the cell, which is critical for many cells’ function. Changes to the gene can cause changes to the protein and its ability to manage calcium movement, making it work more, less, or not at all