Sophie Muir | Chair of Trustees
Timothy Syndrome Alliance (TSA)

Sophie Muir is the Founder and Chair of Timothy Syndrome Alliance (TSA), leading efforts to improve understanding, diagnosis and care for individuals with CACNA1C-Related Disorders including Timothy Syndrome: a group of ultra-rare, multisystem conditions that can be life-limiting and are often misunderstood. Her 18-year journey, from a decade undiagnosed to a Variant of Uncertain Significance, then “likely pathogenic”, and now a formally recognised CACNA1C-Related Disorder (pre-print due this month), has shaped her commitment to ethical, evidence-driven progress. Drawing on lived experience and strategic collaboration, Sophie works with researchers, funders, biotech leaders and programme officers to build trusted, values-led frameworks that connect families and science. Her focus is on creating the insight, infrastructure and partnerships needed to translate discovery into real-world impact. Under her leadership, TSA has co-developed the first global CACNA1C consensus language and management guidance, co-founded the Voltage-Gated Calcium Channel Collective (VGCCC), and built a trusted international community contributing to ethically grounded, regulatory-aligned research. Sophie’s approach combines family engagement, clinical consensus and real-world evidence to accelerate diagnosis, improve trial readiness and reduce duplication. Her work also highlights how understanding CACNA1C may unlock insights into more common neurodevelopmental and psychiatric conditions, demonstrating how rare disease research can benefit many. Recognised through the Chan Zuckerberg Initiative’s Rare As One Network (cycle 3), Sophie continues to help shape sustainable, equitable pathways across the rare disease ecosystem, ensuring progress remains collaborative, credible and inclusive.