There are approximately 7,000 different Rare Diseases. Altogether, they affect over 3.5 million people in the UK. Unfortunately, the causes of many are still unknown. Identifying the cause(s) of a rare disease can help patients get a diagnosis. This can guide them to support, access information and where possible, available treatments. It can also help them to understand the possible consequences to their life and that of their families. It may also lead to improving the chances of developing new treatments.
We do not fully understand what causes many of these rare diseases. We all receive around 20,000 genes from our parents. Changes in one or more of these genes can sometimes lead to disease. To better understand the causes of rare diseases, the NIHR BioResource is close to completing a project to sequence all the genes of around 3,000 people with rare diseases. This will allow research into genetic changes that could explain each person’s disease.
Beyond these 20,000 genes, we and others have found that another part of the human DNA linked with diseases are “telomeres”. Telomeres are DNA sequences located at the ends of our 46 chromosomes. They help protect the DNA as we develop, grow and age. If telomeres are too short or too long, this can lead to certain diseases or make other diseases worse. Telomeres are different from genes, so we need to study them in a different way. In this project, we aim to analyse the telomeres of the same 3,000 people. We will then add this to other genetic and medical data. We aim to discover if some rare diseases are caused or made worse by too short or too long telomeres.
