Rare Disease Day 2026 takes place on 28 February and is shaped this year by the theme "More Than You Can Imagine", reflecting the scale of life with rare conditions that affect over 300 million people globally.
The campaign emphasises solidarity, youth involvement, and the broad impact of rare diseases on families, education, mental health, and social inclusion.
RNA Phenotyping Project Reaches 1,000 Participants
In November 2025, our Rare Disease RNA Phenotyping project achieved a landmark milestone with 1,000 participants recruited. This was seen as a vital step in advancing the UK’s capacity to diagnose and study rare genetic conditions. The project builds on our earlier work sequencing the genomes (mapping out the genetic profile) of 8,000 rare disease patients and helped provide a diagnosis to 20% of them.
The study has 17 rare disease areas, from kidney disorders to immunological and neurological conditions, and includes matched controls (participants without a condition) to help better understand disease-specific patterns.
Early findings from related NIHR work have already shown how this work can reveal disease-specific clues, such as identifying proteins involved in unexplained thrombosis and neurodegenerative conditions.
Long Read Sequencing innovations
Our Long Read Sequencing programme aims to uncover clues by reading much bigger pieces of DNA than older methods did. That’s like seeing larger puzzle pieces instead of tiny fragments, making it easier to put the whole picture together.
The main goal is to help find genetic causes of disease that previous DNA reading methods (like standard whole genome sequencing) couldn’t find. So it may lead to more accurate diagnoses, especially for people with rare diseases whose genetic cause hasn’t been found yet.
We are continuing to scale up the programme and have so far sequenced the genetic profile of around 25% of our target of 22,000 participants, from our rare diseases cohort and other health studies.
Long Read Sequencing has great potential to transform our understanding of how to detect and treat disease. It reads longer stretches of DNA compared to older techniques, and this helps researchers detect structural changes in our DNA that we know contribute to rare disease pathways.
D-CYPHR and Rare Disease Day
Our D-CYPHR programme is joining forces with Rare Disease UK to help raise awareness of rare conditions and champion this year’s theme of equity.
Together, we’re highlighting the urgent need for equitable access to diagnoses, treatments and healthcare, and driving lasting change that improves the lives of everyone affected by a rare condition.
Most rare conditions begin early, with around 7 in 10 rare conditions affecting children, however, children do remain underrepresented in research. This is where D-CYPHR comes in. By working together, we’re helping ensure every child has the chance to benefit from earlier diagnosis and better understanding and future treatments.
We are focusing on sharing how rare conditions can impact families and how Rare Disease UK supports them, highlighting the importance of health research, inviting families to take part in D-CYPHR and support future research breakthrough and finally, giving rare conditions the visibility they deserve.
Through research participation, we can help create lasting change for families across the UK. If you’re a parent or carer of a child aged 0 - 15, you can play a part in shaping the future of children’s health research and helping with rare conditions.
Rare disease and the future
These programmes show how rare disease research is moving forward with better sequencing technologies and more people taking part. We aim to make sure no one is overlooked because their condition is rare, whatever their age or background.
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Get in touch
If you are interested in finding out more about the BioResource or if you have questions, email us at [email protected]
