Diagnostic challenges and clinical management of DNA repair disorders

Date

Wednesday 28 November 2018

Day

Venue Royal Society of Medicine
1 Wimpole Street
LONDON
W1G 0AE
Organised by

Medical Genetics Section

Accreditation

4 CPD Points

Event Image

about this event

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 of Molecular Genetics

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, Consultant Clinical Geneticist

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, Clinical expert

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

 

* Following registration you will be contacted appropriately by email with; your booking confirmation, feedback survey and attendance certificate. For full details of the RSM privacy policy, click here

agenda

8.20 am

Breakfast with the Professor - Trainee masterclass

Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg

9.00 am

Registration, tea and coffee

9.30 am

Welcome and introduction

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

9.40 am

Cellular responses to DNA damage

Professor Alan Lehmann, Molecular Geneticist, University of Sussex

10.30 am

Question and answer session

10.40 am

Tea and coffee break

11.00 am

Recognising DNA repair disorders

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

11.30 am

The national XP service

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

12.00 pm

Question and answer session

12.15 pm

Lunch

1.15 pm

Eye features of DNA repair disorders

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

1.45 pm

Overview of Trichothiodystrophy

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

2.15 pm

Clinical and molecular aspects of Cockayne syndrome

Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg

3.00 pm

Question and answer session

3.10 pm

Tea and coffee break

3.30 pm

Building services in rare disease areas

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

4.00 pm

A Day in the Life of Alex

Mrs Sandra Webb, Founder & Trustee, XP Support Group

4.30 pm

Question and answer session

4.40 pm

Panel discussion

5.00 pm

Closing remarks and close of meeting

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  • Registration on the day will be accepted

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organiser's details

For information on this event, contact Customer ServiceTel: 02072903941 Email: events@rsm.ac.uk arrow