A major focus of several research groups in the GDSC (Caldecott, El-Khamisy, Jeggo, Lehmann, O’Driscoll) is to understand the relationship between the molecular defects and clinical features of a number of genetic disorders whose underlying causes are defects in the response to DNA damage. We have developed cellular tests for these disorders and we use these tests to confirm or exclude tentative clinical diagnoses.
The Lehmann lab provides a diagnostic service for three disorders, xeroderma pigmentosum (XP), Cockayne syndrome and trichothiodystrophy, associated with sensitivity to ultraviolet light from the sun. Our XP diagnostic service is part of a recently established multi-disciplinary clinic for XP patients.
The Jeggo Lab
The O'Driscoll Lab