For DHDDS deficiency, there are: - No reliable biomarkers to confirm disease activity or monitor progression - No functional tests to monitor treatment response - Limited disease models to understand how the condition damages brain cells Diagnosis relies on genetic testing alone, which does not predict severity, progression, or response to therapy. Without measurable biological markers, early diagnosis, clinical trials, and precision treatment are impossible.

This project at UCL will create the first reliable, disease-relevant cellular model of DHDDS deficiency. Researchers will track how affected cells make and process essential proteins and sugars. This approach will: Identify measurable biological changes (biomarkers) Reveal what goes wrong in DHDDS brain cells Create tools to monitor disease progression and treatment response Provide a platform to test and guide new therapies This will enable DHDDS to be monitored, studied and treated.