Developmental Disorders: From Diagnosis to Mechanism via Cis-Regulation

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The FitzPatrick group use DNA sequencing technologies and advanced analytics to understand the causes of severe diseases affecting babies and children. They are particularly focussed on two groups of diseases. Firstly severe birth defects affecting both eyes (missing eyes, very small eyes, structurally abnormal eyes). The other group is children with severe intellectual disability and poor growth. They wish to understand how and why these disorders occur “out of the blue” and what are the underlying problems that occur to cells during development that results in the problems that are apparent at birth.