We as a group within the National Institute for Health and Care Research (NIHR) are interested to study rare disorders. Currently, rare disorders take about 7 years to diagnose. This path can be very challenging for people with a rare disorder. By earlier diagnosis earlier monitoring and treatment can take place. Also, by understanding the pathophysiology we hope to develop new drugs. In our study we look at the genetic landscape of rare inherited disorders.
In the past we have looked at the protein coding regions of the DNA. Thanks to advances in science, we can do that now for the so called ‘noncoding areas”. These areas of our genome have a role in regulation of genes and proteins.
To study these areas, we are collecting material from people with rare (inherited) disorders to look at these genes (by RNA sequencing) and proteins (by proteomics). The samples were received from patients within the Bleeding, thrombotic and Platelet Disorders (BPD) cohort at the Rare Diseases BioResource. This can ultimately result in understanding which genetic mutation in the non-coding space had resulted in disease. This is an exciting project that combines the strengths of participation of people with rare disorders, clinicians, nurses and scientists.
