Why is rare disease research important now?
It is estimated that in around 80% of rare diseases, changes to an individual’s DNA are a likely cause of the condition. Recent advances in technology and understanding to find and analyse these differences, mean that more rare diseases than ever are being researched. As a result, patients, families and health professionals have a better understanding of what may be causing a condition and uncovering new information that may, in time, lead to new and novel treatments.
Rare disease research is a unique partnership between affected patients willing to join in and contribute samples and information to researchers who then analyse samples and patient information from many individuals in the hope of finding patterns in the data, which may uncover new causes of a rare disease.
What advances have there been in rare disease research recently?
The UK and Welsh governments have provided funding to support 100,000 individuals, many of whom were affected by a rare disease, to take part in a research study to try and find a diagnosis. The project was called the 100,000 Genomes Project. Recruitment to this project has now closed but results are now being delivered back to patients and families who took part.
In Wales, a lot of work is happening to ensure that advances in our knowledge about genetics and genomics benefits other areas of medicine. The aim of using these new techniques and technologies is so that people will be able to receive quicker, more accurate diagnoses and more targeted treatment for their condition.
Wales Gene Park is working as a partner of Genomics Partnership Wales, an organisation set up to help deliver the Welsh Government’s vision for delivering services for genomics in the NHS. We are working with them to try and find out about all the research that is happening across Wales in the field of rare diseases, and also to ensure that patients and families are engaged and involved in what rare disease research is taking place.