Description
DNA repair disorders represent a diagnostic challenge, because they are so rare that many clinicians may not have encountered them in their clinical practice.
Symptoms and signs can affect diverse organs, and the manifestations of these conditions may be very subtle. Understanding the molecular basis of these disorders has furthered our understanding of several basic biological processes.
These disorders serve as an important illustration of the challenges of caring for patients with rare diseases, who need long term specialist multidisciplinary support.
Attending this study day will give a unique insight into the cell biology and clinical management of this rare group of disorders, with an additional emphasis on supporting patients with rare diseases in the changing landscape of clinical services.
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 Evelina children’s 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
8.45 am
Breakfast with the Professor
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
9.35 am
Cellular responses to DNA damage
Professor Alan Lehmann, Molecular Geneticist, University of Sussex
10.25 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
DNA repair in aging
Speaker to be confirmed
12.00 pm
Question and answer session
12.15 pm
Lunch
1.15 pm
The national XP service
Dr Hiva Fassihi, Consultant Dermatologist, Guy’s and St Thomas’ NHS Foundation Trust
1.45 pm
Clinical and molecular aspects of Cockayne syndrome
Professor Vincent Laugel, Consultant Paediatric Neurologist, Strasbourg
2.15 pm
Eye features of DNA repair disorders
Dr Susie Morley, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
2.45 pm
Question and answer session
3.00 pm
Tea and coffee break
3.20 pm
Building clinical services in rare disease areas
Dr Shehla Mohammed, Consultant Clinical Geneticist, Guy’s and St Thomas’ NHS Foundation Trust
3.50 pm
Living with XP syndrome
Patient Representative
4.10 pm
Question and answer session
4.25 pm
Panel discussion
4.55 pm
Closing remarks
5.00 pm
Close of meeting