Supporting Rare Disease Day

Today, on Rare Disease Day, we recognise that with more than 300 million people worldwide living with a rare disease—only 5% have approved treatments. This reality highlights the urgent need for continued research and innovation. 

At NATA, we are dedicated to advancing nucleic acid-based therapies to offer new hope for patients and families affected by rare conditions. Through collaborative partnerships, we are funding translational research projects that bring us closer to meaningful treatments. 

Our Collaborative Research Projects

By working alongside leading organisations, we are supporting groundbreaking research in nucleic acid therapeutics: 

Restoring Lung Function in Primary Ciliary Dyskinesia (PCD)

In collaboration with PCD Research, we are working with Prof. Stephen Hart from UCL to develop mRNA therapy for CCDC39 deficiency. This research aims to restore cilia function in affected patients by delivering mRNA-based treatments directly to the lungs. 

Developing Novel Treatments for Ataxia-Telangiectasia (A-T)

With Action for A-T, we are collaborating with Prof Rita Horvath at the University of Cambridge and Prof Grant Stewart at the University of Birmingham to explore suppressor tRNA technology as a potential therapy. Additionally, we are supporting biomarker research and patient studies to improve understanding and diagnosis of A-T. 

Exploring Nucleic Acid Therapeutics for Epilepsy

In partnership with the Epilepsy Research Institute, we are co-funding a fellowship for Dr. José Prius Mengual (University of Oxford) to investigate gene-targeting therapies for epilepsy. This research focuses on the connection between sleep disturbances and epilepsy, using nucleic acid therapeutics to modulate ER stress pathways in the brain and prevent seizures. 

A Call to Action

At NATA, we believe that collaboration, innovation, and dedication are key to transforming the landscape of rare disease treatments. While progress is being made, there is still so much work to be done. 

To every patient, family, and researcher working towards a future with better treatments—you are not alone. Let’s continue to raise awareness, drive research, and support breakthroughs in rare disease therapy. 

Learn more about our work and partnerships: 

PCD Research: PCD Research – getting cilia moving

Action for A-T: Action for A-T – Funding Research Finding Hope

Epilepsy Research Institute: Epilepsy Research Institute - Radically advancing research into epilepsy

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