Pleasantine Mill is to co-lead the newly announced £9.4M LifeArc Centre for Rare Respiratory Diseases →

To coincide with the Undiagnosed Childrens Day Genetic Alliance UK reception tonight at the Scottish Parliament this evening, we are thrilled to announce that Pleasantine Mill is to co-lead the Lifearc Translational Centre for Rare Respiratory Diseases (RRDs) with Amelia Shoemark (Dundee), Jane Lucas (Southampton), and Hannah Mitchison (UCL) to tackle rare respiratory diseases like primary ciliary dyskinesia (PCD)!

As Julia (16 and living with PCD) will share tonight it often takes years of tests, hospital appointments and misdiagnoses for a patient with rare respiratory diseases to receive a diagnosis and access specialist care. There are often no therapies for rare diseases like PCD. #UndiagnosedChildrensDay

By coming together in this new LifeArc Centre, we have the real potential for transformative change for patients living with are rare respiratory diseases like Julia across the UK. We have partners within the NHS & NIHR, UKRI MRC investments like the Nucleic Acid Therapeutic Accelerator (NATA) and the National Mouse Genetics Network (NMGN) along with industry.

This is only possible with patient advocacy groups who shaped this Centre PCD Support UK, PCD Research, the US PCD Foundation, LAM Action, the BHD Foundation, chILD UK, Action Pulmonary Fibrosis, as well as Genetic Alliance. The Centre will act as a ‘beacon’, helping RRD patients influence policy & research.

The Centre can tackle poor awareness of disease burden in patients with RRDs. The LifeArc Centre will improve diagnostic journeys & community engagement in clinical trials, by raising public profile & awareness of RRDs.

It represents a £9.4M investment by LifeArc in rare respiratory diseases, matched with institutional support from the University of Edinburgh, University of Dundee, Cambridge University, University of Southampton, University College London and University of Nottingham. This represents a huge commitment to invest in clinical training for rare respiratory diseases to improve diagnosis earlier & to recruit ECR cohorts into rare accelerating respiratory diseases research.

Lack of accessible rare respiratory diseases preclinical models & screening workflows holds back translation. Understanding tractable pathways is the route to treatment & cure. This LifeArc Centre will share expertise, resources & samples with our stakeholders, lowering ‘walls’ to translation.

 There is an absence of infrastructure & support for a rare respiratory diseases therapeutic pipeline. Patients with rare respiratory diseases do not have luxury of prolonged efficacy trials with large numbers. The LifeArc Centre aims to create a de-risked space working with regulators to remove roadblocks to clinic for are respiratory diseases.

Rare respiratory diseasesresearch is under-resourced in funding priorities. Even within the rare disease space, childhood & adult rare respiratory diseases are overlooked- most are poorly characterised & there are few approved therapies. This LifeArc Centre looks to change this.

We look forward to working rising to the rare respiratory diseases challenge together! With Steve Cunningham (Edinburgh), Kev Dhaliwal (Edinburgh), Nik Hirani, Simon Johnson (Nottigham), and Stefan Marciniak (Cambridge) and our extensive partners across the four nations! Read more here: https://www.ed.ac.uk/news/2024/national-centre-to-tackle-rare-lung-diseases