About this event

  • Date and time Wed 28 Nov 2018 from 9:00am to 28 Nov 2018 at 5:00pm
  • Location Royal Society of Medicine
  • Organised by Medical Genetics

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:

  • The cellular biology of DNA repair disorders
  • The clinical presentation of DNA repair disorders
  • Updated expert guidance on the clinical management of DNA repair disorders
  • What DNA repair disorders can teach us about the process of ageing
  • How specialist services for DNA repair disorders are structured and how they were established
  • What it is like to live with a DNA repair disorder

Key speakers

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.  

 

Dr Shehla Mohammed

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 Vincent Laugel

Professor Laugel is an expert in Cockayne syndrome. He has a large patient cohort which has yielded unique insights into this rare condition.

Agenda

View the programme

Breakfast with the Professor - Trainee masterclass

Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg

Registration, tea and coffee
Welcome and introduction

Dr Shwetha Ramachandrappa, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust

Cellular responses to DNA damage

Professor Alan Lehmann, Molecular Geneticist, University of Sussex

Question and answer session
Tea and coffee break
Recognising DNA repair disorders

Dr Shehla Mohmmed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust

The national XP service

Dr Hiva Fassihi, Consultant Dermatologist, Guy’s and St Thomas’ NHS Foundation Trust

Question and answer session
Lunch
Eye features of DNA repair disorders

Dr Susie Morely, Consultant Ophthalmologist Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust

Overview of Trichothiodystrophy

Dr Shehla Mohammed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust

Clinical and molecular aspects of Cockayne syndrome

Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg

Question and answer session
Tea and coffee break
Building services in rare disease areas

Dr Shehla Mohammed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust

A Day in the Life of Alex

Mrs Sandra Webb, Founder & Trustee, XP Support Group

Question and answer session
Panel discussion
Closing remarks and close of meeting

Location

Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom