Diagnostic Service

My lab provides a cellular diagnostic service for three inherited  disorders, xeroderma pigmentosum (XP), Cockayne syndrome and trichothiodystrophy, associated with sensitivity to ultraviolet light from the sun. These disorders are caused by an inability to repair sunlight induced DNA damage in the skin. Since 2010 our diagnostic service has been an integral part of a NHS-funded multi-disciplinary clinic for XP patients. We have over 100 patients visiting the clinic on a regular basis, representing more than 90% of the XP patients in the UK. Apart from the cellular diagnoses that we carry out in my lab my role is as a consultant scientist at the XP clinic to relate the cellular and molecular findings on the patients to their clinical features, leading to improved management and more accurate prognoses.