RNA sequencing for greater understanding of rare genetic diseases

A Rare Disease (RD) is a condition that affects fewer than 1 in 2,000 people in the UK. There are about 7,000 different RD conditions that have been identified to date and across multiple disease areas, including in neuroscience, haematology and cardiovascular disease. 

Gary Bond

The patient journey to get a RD diagnosis often takes several years, with multiple hospital visits and tests. To date, about half of the RD conditions can be linked to a genetic basis, but the cause of many Rare Diseases remain unknown. 

Team members in the Rare Diseases BioResource have recently started an RNA (Ribonucleic acid) sequencing project, with the aim to give a greater understanding of many rare diseases, how and why they might occur as well as potentially lead to new avenues for research. To date, the Rare Diseases BioResource works across more than 70 disease projects. 

Why RNA sequencing? 

RNA, or ribonucleic acid, is a molecule similar to DNA, but unlike DNA, RNA is single-stranded and is short-lived within the cells in our body. RNA plays an active role in cells, regulating when and how much genes are expressed into proteins, and as such could play an important role in disease mechanisms. 

How will this research be undertaken? 

Patients with specific rare diseases who have joined the NIHR BioResource have been asked if they could donate 50mls of blood (equating to around 3 tablespoons). The BioResource team then isolates specific blood cell types so that we can look at the RNA levels and compare this with controls. This research follows on from the recent Whole Genome Sequencing (WGS) project, where the BioResource worked in partnership with Genomics England, to demonstrate that Whole Genome Sequencing can uncover new diagnoses for patients with rare diseases.  

Currently, we are aiming for 1,000 rare disease patients, across 9 RD BioResource projects to participate in this RNA sequencing project that will run initially until November 2022. Clinicians have to apply for their RD patients to be a part of this project, but there could be an opportunity to add new rare disease projects in early 2022. Unfortunately, RD patients can not refer themselves to take part in this project. 

Gary, the first participant to be recruited to the RNA sequencing project said: “I am very pleased to be part of the study and I hope my donation will help others.” 

Speaking about the new study, Natasha Morgan, Rare Disease RNA Phenotyping Project Manager for the NIHR BioResource said: “The NIHR Rare Disease BioResource is aiming to build upon the Whole Genome Sequencing Project by undertaking the RNA Phenotyping Project.  With the first patients participating we are one step closer to providing further insight into these Rare Diseases. We are excited to be a part of this ground breaking research and look forward to seeing what impact this research may have.” 

More RD patients have already positively responded to our invite to participate in this exciting new project. Every single sample that will undergo RNA sequencing could help better our understanding of rare disease conditions. 

Find out more about the Rare Diseases BioResource and how you too can help us with our vital work. If you are not affected by a Rare Disease, you can still contribute to health research