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"Working together we can secure the best use of scarce expertise and resources, maximising the health gain for all those with rare conditions" Alastair Kent OBE, Chair of RDUK


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Scottish Parliament Reception

2nd March 2010

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To mark Rare Disease Day in Scotland, 120 delegates from a diverse range of backgrounds squeezed into Committee Room 1 in the Scottish Parliament to raise awareness of rare diseases and the issues involved in working in this area or living with a rare disease in Scotland.  The event was attended by several MSPs including Alex Fergusson, Brian Adam, Jackie Baillie, Iain Gray, Alex Johnstone, David Whitton, Stuart McMillan and Joe Fitzpatrick. Representatives from Dr Richard Simpson’s office and Elaine Smith’s office also attended.

Christine Grahame MSP

We are grateful to Christine Grahame MSP, convener of the Health and Sports Committee, for hosting the event and delivering an engaging opening speech.  Ms Grahame commented on the large turnout to support Rare Disease Day and her surprise on discovering how common rare diseases actually are. Ms Grahame highlighted the considerable wealth of academic, clinical and industry research ongoing in Scotland and our strength as an international centre for excellence in life science research.

 Christine Grahame MSP


Our second speaker, Alastair Kent, chair of Rare Disease UK, outlined why Rare Disease Day is important and gave an overview of the issues facing people with rare conditions.  He argued that we need to see rare diseases as a public health issue because collectively they affect around 300,000 people in Scotland – equivalent to the combined population of Inverness and Aberdeen. It is unthinkable that an issue affecting so many people has not been considered a priority. Rare disease patients have the same right to high quality, integrated service delivery from the NHS as other service users.  However delivery of such a service to a population of people with rare complex needs across Scotland’s vast geography is logistically difficult. Mr Kent asked the Scottish government to act strategically by creating links within the UK, as well as within Europe and internationally to share best practice and information. Rare disease patients are “frequent fliers” of the NHS so their needs must be addressed in a strategic way to deliver an efficient service that maximises health gain.  One of the developments Rare Disease UK is calling for is the NHS to set up patient registries for rare diseases.  This would provide a platform for the systematic collection of data which, in turn, would inform health service planning and could attract researchers and industry wishing to study and invest in specific rare conditions. 

The third speaker, Professor Sir Ian Wilmut, is best known as the leader of the research group that in 1996 first cloned a mammal from an adult somatic cell (Dolly the Sheep). Professor Wilmut currently holds the Chair of Reproductive Biology at the MRC’s Centre for Regenerative Medicine in Edinburgh and in 2008 was knighted in the New Year Honours for "services to science.”  

 Professor Sir Ian Wilmut
   Professor Sir Ian Wilmut

Professor Wilmut started his speech by giving a realistic idea of the time lines involved in taking a scientific discovery from its initial elucidation to a practical application in the form of therapeutic intervention.  Professor Wilmut was keen to emphasise what we can learn from history: “Over the past two centuries research has developed the first effective treatments for diseases that are the result of infections. Through the combined efforts of focusing attention on hygiene and sanitation, developing large scale immunization programmes and the discovery of antibiotics it is now possible to avoid or treat diseases such as polio, TB, measles and mumps. In the coming decades, the new research will provide new treatments for diseases that reflect the loss of normal function from cells.”

Research teams at the Centre for Regenerative Medicine are currently working on the use of induced pluripotent stem cells (iPSCs) to investigate the biological basis of disease. There is much interest in iPSCs because they can be manipulated in the laboratory setting, allow (non invasive) study of individual people with rare conditions, and have the advantage of avoiding embryo use.

In the near future, cells taken from patients with a specific genetic mutation can be induced into behaving like stem cells and grown in the laboratory for long periods of time. This will enable the biology of diseased cells (from individuals with rare diseases and unique mutations) to be studied in depth which might help us to understand what is going wrong and how we might be able to correct it. In scientific terms, this is a huge step forward. Professor Wilmut explained: “It is becoming possible to have, in the laboratory, cells of the tissue that is affected in an inherited disease that are very similar to those in a person who developed the disease. By comparing them with similar cells from a healthy person it may be possible to identify the difference that causes the development of the symptoms. In time this knowledge may make it possible to identify the first drugs that are able to prevent the development of symptoms.”

Although actually implanting replacement cells into people to regenerate damaged tissue is a long way off for most conditions, these other uses promise more rapidly attainable benefits.

Susan Green   

Our final speaker was Susan Green from the Niemann-Pick Disease Group UK.  Susan gave a moving yet fascinating talk reflecting on her life as a parent of two children with Niemann-Pick Disease (NPD), an extremely rare life-limiting metabolic condition. She described how families who receive a diagnosis of a rare condition often have their hopes and dreams for the future destroyed in a single moment and struggle to come to terms with the fear, anxiety and isolation this provokes.

 Susan Greene


When Susan’s family were diagnosed with Niemann-Pick disease type C, they were the only family in Scotland and, discovering a real lack of information available to her, she was driven to set up the UK patient support group for NPD. One of the aims of this group was to contact other families and try to speed up the process of looking for a treatment for this group of conditions. Susan said: “In listening to families it was obvious that they were all seeing different doctors and no-one seemed to know much about Niemann-Pick disease! What we needed was one doctor who could see more than one family and learn more about this disease.”  Susan then described how the first NPD clinic was set up in Manchester and how the charity worked with scientists at the National Institutes of Health in Bethesda, USA to provide samples to help identify the gene that causes NPD.  The group’s dedication to furthering (and funding) research ultimately led to many fruitful collaborations and the first treatment for NPD type C, Zavesca.

Dr Peter Pentchev described his view of the patient-researcher partnership following the discovery of the NPC1 gene (as quoted by Susan Green):  “When we first began studying the causes of this disease, the lack of knowledge led to an ‘incurably hopeless wasteland’. Even worse, the disease was one of the ‘orphan diseases’ that strike only a small number of people, leaving drug companies and most laboratories little incentive to understand them. The parents did not accept this hopelessness; they took it on their own shoulders to enquire about what causes this disease. We had nothing but their courage. These pioneering families, their faith and perseverance, that’s what led to the cloning of the gene”.

The RDUK and the Genetic Interest Group team wish to say a big thank you to all of the delegates who really made the reception a great success, and to our speakers: Christine Grahame MSP, Professor Sir Ian Wilmut and Susan Green.

 The Rare Disease UK and Genetic Interest Group team (from left to right): Chris Friend (Chair of the GIG Board of Trustees), Gillian Scott, Claire Cotterill, Melissa Hillier, Alastair Kent and Stephen Nutt

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For more information on Rare Disease UK in Scotland, please contact Claire Cotterill:  or 0131 651 4805