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Funding treatments for patients with rare diseases

05 November 2007

Critical issues surrounding the funding of treatments for patients with rare diseases will be discussed at an event organised by Cardiff University’s Wales Gene Park.

Medical, ethical and economic questions will be addressed at a policy engagement event hosted at the National Assembly by Lorraine Barrett AM (8 November).

Patients, policy makers, health professionals and academics will discuss ‘orphan drugs’ (medications used to treat diseases that occur rarely and can be highly expensive).

It is estimated that between 5,000 and 8,000 distinct rare diseases exist today with five new diseases described every week in the medical literature.

Director of Cardiff University’s Centre for Economic and Social Aspects of Genomics (CESAGEN), Professor Ruth Chadwick said: "Being diagnosed with a rare disease can bring added anxiety for patients where research may be limited, especially if they are concerned that economics plays a role in their treatment options. This event will consider issues ranging from the patient’s perspective to the challenges facing healthcare decision makers."

One such rare disease is Pompe disease, a metabolic muscle disorder. It is a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from each of their parents.

Allan Muir, Chairman, International Pompe Association said: "A common feature of many Orphan Diseases is their progressive nature; so they require early diagnosis and immediate treatment. Patients cannot afford to wait years for these funding decisions."



Notes to Editors:

1.Interviews can be arranged with Mrs Susan Davies from Swansea a mother of two teenagers, both suffering from Pompe Disease but only one on treatment and also with speakers presenting at the event (full details at: Please contact the Public Relations Office to arrange tel: 02920 874499.

2.‘Orphan Drugs and Rare Diseases’ will be held at the National Assembly Thursday 8 November from 9:30am - 4pm. The event is organised by the Wales Gene Park and supported by The ESRC Centre for Economic and Social Aspects of Genomics (CESAGEN) and by an educational grant from Genzyme Therapeutics Ltd.

3.The Wales Gene Park is based within Cardiff University and brings together researchers and clinicians to extend knowledge, advance developments and raise awareness on issues related to human genetics.

4.The ESRC Centre for Economic and Social Aspects of Genomics (CESAGEN) is a Lancaster- Cardiff collaboration. The award constitutes recognition of the track record of work in Genomics and Social Science at the two Universities. Funded as part of the ESRC Genomics network, CESAGEN’s objective is to work with the relevant genomics science whilst attempting to clarify the human (social and economic) factors which shape these natural knowledges.

5. Cardiff University is recognised in independent government assessments as one of Britain’s leading teaching and research universities. Founded by Royal Charter in 1883, the University today combines impressive modern facilities and a dynamic approach to teaching and research. The University’s breadth of expertise in research and research-led teaching encompasses: the humanities; the natural, physical, health, life and social sciences; engineering and technology; preparation for a wide range of professions; and a longstanding commitment to lifelong learning. Cardiff is a member of the Russell Group of Britain’s leading research universities.

Visit the University website at:

Further Information:

For more information, please contact:

Flo Ticehurst
Genetics and Society Research Officer
Wales Gene Park
Tel: 029 2068 2140

Emma Darling
Public Relations
Cardiff University
Tel: 029 20874499