Research Funded by PCD Research
PCD Research and NATA – Nucleic Acid Therapy Accelerator have agreed to jointly award Prof Stephen Hart and colleagues at UCL, a £250k two-year research grant to develop mRNA therapy for primary ciliary dyskinesia (PCD).
This grant targets the 3rd most common disease causing gene CCDC39, known for causing some of the most severe clinical outcomes. This project aims to restore the movement of cilia (tiny hair-like structures in the lungs) by delivering mRNA to replace the faulty CCDC39 protein.
If successful, this method could be a significant advance in creating more effective, targeted treatments for PCD across many disease causing genes.
This is a first not just for PCD Research, but also the first research towards developing a treatment to restore ciliary function that has been funded by a charity. Instrumental in this achievement were Gina Bicknell, Kiah York and their colleagues from the IP Transactions team at Pinsent Masons, who worked tirelessly to negotiate and finalise the contract with UCL, and without their help, this achievement would not have been possible.
Advocating for rare disease
At the Houses of Parliament again for Rare Disease Day hosted by Genetic Alliance UK and the new chair of the APPG, Peter Dowd MP. A highlight of the day was speaking with Parliamentary Under-Secretary of State Ashley Dalton MP.
This year, as the sun shone over the Thames, there was a palpable sense of change – with a new government eager for reform and growth, the opportunity for a bolder, more ambitious vision for rare disease innovation and investment feels within reach.
The case for urgent, radical reform is strong. Despite major advances in genomics, science, and technology, rare disease patients too often remain overlooked because innovation in this space is not deemed commercially viable by the pharmaceutical industry.
Co-funding Research
PCD Research and NATA have agreed to jointly award a £250k two-year research grant to develop mRNA therapy for PCD.
This grant targets the third most common disease causing gene CCDC39, known for causing severe clinical outcomes.
The project aims to restore the movement of cilia (tiny hair-like structures in the lungs) by delivering mRNA to replace the faulty CCDC39 protein. If successful, this method could be a significant advance in creating more effective, targeted treatments for PCD.
Find out more about NATA.
LifeArc Centre for Rare Respiratory Diseases
Every 5 minutes, someone in the UK dies from a lung disease, making it the third leading cause of death. Despite this, lung research receives just 2% of total medical research funding. For those with rare lung diseases, the challenges are even greater—most have no approved treatment, and awareness remains critically low.
Lung diseases are often undiagnosed until significant damage has occurred, delaying treatment, worsening outcomes, and reinforcing chronic underfunding and research gaps.
As part of LifeArc’s £40M investment in rare disease research, the £9.4M LifeArc Centre for Rare Respiratory Diseases (RRD) aims to accelerate treatment development for conditions like Primary Ciliary Dyskinesia (PCD).
The LifeArc Centre is committed to:
✔ Understanding rare lung disease biology to drive future treatments.
✔ Developing new therapies for conditions like PCD.
✔ Creating patient-led disease models to accelerate drug development.
✔ Improving early diagnosis to prevent irreversible damage.
✔ Increasing awareness and advocating for better research funding.
Industry Accelerator
To mark the start of PCD awareness month, on the 1st October 24 we hosted our first Rare Diseases Industry Accelerator Day. Find out more here.
Raising awareness
We launched our first event to raise awareness about PCD in May 2024.
The audience enjoyed an evening of entertainment with a drinks reception followed by conversation with Dr Alex Mahon. We had exclusive prizes for auction.
Newborn Genomes Programme
Genomics England will be delivering the Generation Study and part of this will include sequencing the genomes of 100,000 newborns in England. This is to look for a specific set of rare genetic conditions that affect babies and can be acted on.
The list of the genes that will be included in this study have been recently decided. We are delighted to report that 36 genes that are associated with PCD have been included. The list of genes may change but we believe this is an important milestone for the PCD community.
PCD Research believes that diagnosing babies before permanent lung damage has occurred is important and we provided input to help develop information for affected families.
Transplant publication
The largest series of people with PCD who have undergone lung transplantation, across USA, Europe and Turkey has recently been published.
This is a landmark study due to the size and involvement of a number of countries. The median age at transplant was 33.5 years (range 25–49.5 years). The average amount of time people survived after lung transplant was 5-6 years.
