Developmental Disorders: From Diagnosis to Mechanism via Cis-Regulation

Every year, hundreds of babies are born with missing or severely malformed eyes, or with profound intellectual disability and stunted growth, often with no family history of these conditions. The FitzPatrick group uses DNA sequencing to find the genetic "switches"—stretches of DNA that control when and where genes turn on—that go wrong in these children. This matters because most research focuses on the genes themselves, not the regulatory regions that orchestrate them. Without understanding these switches, doctors can diagnose a disorder but cannot explain why it struck a particular child “out of the blue,” nor what cellular process actually failed during development. If this research succeeds, it will transform diagnosis from a label into a mechanistic explanation. Clinicians could pinpoint the exact regulatory disruption, offering families a concrete answer rather than uncertainty. In the longer term, understanding how these switches control eye and brain development could reveal fundamental principles of human embryology—knowledge that might one day inform strategies for tissue repair or regeneration. For now, the work is fundamental science: it asks how a single fertilised cell builds a working human body, and why that process sometimes goes catastrophically wrong.