Professor Alan Lehmann
Professor Lehmann runs a laboratory which aims to understand the responses of human cells to ultraviolet light, and the molecular basis for the defects in xeroderma pigmentosum, Cockayne Syndrome and trichothiodystrophy.
This study day which will provide insights and knowledge for multi-disciplinary teams as DNA repair disorders represent a diagnostic challenge and are an important illustration of the challenges of caring for patients with these diseases who need long term specialist support.
Attendees will be given a unique insight into the cell biology and clinical management of such disorders, with an additional emphasis on supporting patients with challenging diseases in the changing landscape of clinical services.
Understanding the molecular basis of these disorders has furthered our understanding of several basis biological processes and speakers include those who have established clinical services in rare disease areas, experts in Cockayne syndrome (one of whom you can join for breakfast before the event starts) and both a description of the UK's national XP Service and the patients' experience of living with a hereditary disorder.
Topics include:
Professor Lehmann runs a laboratory which aims to understand the responses of human cells to ultraviolet light, and the molecular basis for the defects in xeroderma pigmentosum, Cockayne Syndrome and trichothiodystrophy.
Dr Mohammed is a clinical expert in DNA repair disorders. She has been heavily involved in establishing the rare disease centre at the St Thomas' Hospital.
Professor Laugel is an expert in Cockayne syndrome. He has a large patient cohort which has yielded unique insights into this rare condition.
Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg
Dr Shwetha Ramachandrappa, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
Professor Alan Lehmann, Molecular Geneticist, University of Sussex
Dr Shehla Mohmmed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
Dr Hiva Fassihi, Consultant Dermatologist, Guy’s and St Thomas’ NHS Foundation Trust
Dr Susie Morely, Consultant Ophthalmologist Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
Dr Shehla Mohammed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg
Dr Shehla Mohammed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
Mrs Sandra Webb, Founder & Trustee, XP Support Group
Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom