Tag: rarediseases
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Erika Stariha shares her journey from undiagnosed parent to European foundation founder. Her son’s eight-year wait for a SATB2 diagnosis shaped everything that followed. Consequently, she built a foundation focused on systems, not just symptoms.
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“From Genes to Powerful Answers” takes us on a guided journey through the world of genetics with Célia Azevedo Soares. We explore why genes matter so deeply in rare diseases and how our understanding of them has evolved to shape the entire path from suspicion to diagnosis.
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In How to Break Data Silos in Rare Diseases, Francisco Aguiar from BI4ALL joins me to explore how data and AI can truly reshape the rare disease ecosystem.