Rare Disease Day 2021

Rare is MANY, Rare is STRONG, Rare is PROUD

This time last year the NIHR BioResource was planning its annual Rare Diseases Patient Day for March 2020. Unfortunately, the event had to be cancelled due to the coronavirus pandemic, but the importance of research into rare diseases (RD) has not been forgotten. The BioResource has worked hard to continue recruitment across rare diseases.

Although recruitment to the NIHR BioResource was stopped last March we were able to restart again in September across hospitals and clinics. Since then, we have recruited just under 100 patients across 17 of our rare disease projects within 14 hospital Trusts across England. This is a great achievement in the context of reduced face-to-face clinics and the ongoing restrictions to travel. The NIHR BioResource is actively investigating ways to enable recruitment into research without the need to travel to hospital.

Research into Rare Diseases remain at the heart of the NIHR BioResource. To date, including a pilot programme, more than 20,000 people have been recruited to the NIHR BioResource – Rare Diseases. We are now actively recruiting into more than 60 RD projects, and additional RD projects are also in setup.

In the midst of the pandemic, the BioResource’s landmark RD paper ‘Whole-genome sequencing of patients with rare diseases in a national health system’ was published and subsequently identified by the American Journal of Human Genetics as one of ten key advances of 2020in applying genomic information to clinical care”.

This flagship paper reported on the sequencing of the entire genomes of almost 10,000 NHS patients with rare diseases and searched for genetic causes. Previously unobserved genetic differences causing known rare diseases were identified, in addition to genetic differences causing completely new genetic diseases. Using such genome analysis will allow quicker and better genetic diagnosis for many more NHS patients.

Several further papers were published in the last year regarding the NIHR BioResource’s rare diseases programme. One of these is a paper on the first recall study that was undertaken with rare disease participants in the BioResource. This study, in which 11 eligible volunteers took part, examined their perceptions and behavioural consequences when these volunteers were provided with new information on conditions they might be predisposed to.

Rare Disease Day 2021 poster

We are currently setting up a new rare diseases recall study involving patients in the Primary Immune Deficiency (PID) project. Patients from across England will be invited to provide samples for Professor Ken Smith’s Genetic variation AND Altered Leucocyte Function in health and disease (GANDALF) Study. This study aims to deepen understanding about how biological mechanisms that control our immune cells can sometimes result in the failure of our immune system to operate normally.

Speaking about his aim for the study, Professor Smith said:

Ultimately, we hope this research will inform diagnosis and enable the appropriate use of treatment to transform the lives of this significant patient population. Our findings may also have impact for other areas of medicine such as autoimmunity and cancer, where immune cells play a part in the disease”.

The BioResource continues to support and facilitate rare diseases research. Professor Maya Buch, Principle Investigator of the Systemic Sclerosis project, summarises:

We haven’t forgotten rare diseases patients in this difficult time; the Rare Disease BioResource is here to improve your lives and outcomes”.

On 28 February we will celebrate Rare Disease Day across the world, ensuring we continue to raise awareness amongst the general public and decision-makers.

The official Rare Disease Day 2021 video

To find out more about what is going on in this country and internationally please visit the Rare Disease website