Rare Disease UK's Working Groups

The purpose of the Working Groups is to aid the development of a strategy in the UK by looking at the issues involved in delivering an integrated service for people with rare diseases. Our aim is to develop a set of measures to evaluate the structures put in place for rare diseases. These measures should be applicable to all four home nations and future-proof allowing for changes in government and structures. The resulting Working Group report will hopefully aid the government's strategy for rare diseases.

There are 5 Working Groups that are broadly looking into the following areas:

Coordination of Research – Chaired by Dr Hilary Burton, Programme Director – PHG Foundation
• Overall UK research strategy
• Epidemiology
• Genetic and molecular characterisation of rare disease
• Development of diagnostic tests
• Therapeutic research
• Psychosocial

 

Prevention & Diagnosis – Chaired by Dr Jim Bonham, Laboratory Director of Newborn Screening, Sheffield Children's NHS Foundation Trust

• Definition of disease
• Definition of rare disease
• Quality testing
• Population screening
• Disease awareness and education

 

Commissioning – Chaired by Adrian Pollitt OBE, Former Director of National Specialised Commissioning
• Access to specialist care
• Access to medicines
• Co-ordinated compassionate use programme
• HTA processes
• Commissioning
• Documenting outcomes
• Educating Health care professionals

 

Patient Care & Information – Co-chaired by Andrew Wilson Webb, CEO - Rare Cancers Forum and Lesley Greene - Vice President of Climb and Eurordis Patient Rep

Patient Care
• Multidisciplinary teams
• Access to services of other specialties
• Referral pathways
• Palliative care
• Access in different locations
• Long-term and follow-up care
• Medical curricula

Patient/Carer Information
• Accessibility
• Clinical trials
• Help and support
• Carer support

 

Delivering Co-ordinated Care – Dr Atul Mehta, Consultant Haematologist – Royal Free Hospital
• Centres of excellence
• Co-ordination UK/Europe and international
• Common policies, guidelines, standards, sharing best practice
• Patient information/Biobanks/Registries/Data protection
• Funding mechanisms
• Role of different disciplines
• Implementing National and Regional Plans

 

More information will be made available as the Working Groups progress.