Overview

We see people and families with rare diseases, including:

• Bardet-Biedl syndrome
• Bloom syndrome (BSyn)
• epidermolysis bullosa
• xeroderma pigmentosum 
• Cockayne syndrome
• trichothiodystrophy
• cystinosis
• Klinefelter syndrome
• rare bone disorders

We bring together specialists from different departments to provide a full service.

Our centre has been specially designed with your needs in mind, including:

• UV-free areas if you have xeroderma pigmentosum
• large consulting rooms so that we can see whole families affected by the same genetic condition at once
• video conference equipment so that our specialists can work closely with your local health services and international experts
• a large, welcoming reception area, kitchen facilities and a relaxing garden for you and your family

Health information

Rare Disease UK is the national campaign for people with rare diseases and all who support them.

Our consultants

Moira Cheung

Nigel Davies

Hiva Fassihi

David Game

Danielle Greenblatt

Melita Irving

John McGrath

Jemima Mellerio

Moin Mohamed

Shehla Mohammed

Tet Yap

Research and clinical trials

Research is vital to improving the care that you receive when you're unwell. You can help improve healthcare by taking part in research studies at our Trust. During your appointment, ask your healthcare professional about research. They'll be happy to tell you about research studies you could be eligible to join.