PCD Research

Ending the end of PCD awareness month in the same style we kicked off with our #GettingCiliaMoving Industry Accelerator Day, I’m excited to announce that PCD Research and NATA - Nucleic Acid Therapy Accelerator have agreed to jointly award Prof Stephen Hart at UCL 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 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. #raredisease #rarediseases #fundingcollaboration #medicalresearch #mrna #mrnatreatments #GettingCiliaMoving #primaryciliarydyskinesia #pcdawareness #geneticTherapies #geneticdisease #ciliopathies #raredisease #rarediseases #pcdawarenessmonth #pcdwarriors #pcdwarrior #kartageners #kartagenersSyndrome Medical Research Council

At the start of primary ciliary dyskinesia awareness month we hosted our Rare Disease Industry Accelerator day. The event looked to reframe the narrative of PCD as a mild disorder and to leverage interest and IP from cystic fibrosis to address the lack of much needed treatments. The whole day was #LiveScribed by the talented Jonny Glover from More Than Minutes covering the important themes of the day: #breakingSilos, #communityBuilding, #workingTogether, #RareDiseasesAreNotRare, #CoordinatedEffort #FindingPeopleWithPCD, #NewEcosystem for rare disease, and the #ValuePropostion needs to change. We are grateful for our sponsors who made this event possible: LifeArc, ReCode Therapeutics, Weatherden, Pinsent Masons, AXON, MRC National Mouse Genetics Network, Congenital Anomalies Cluster and the LifeArc Centre for Rare Respiratory Diseases. #prinaryciliarydyskinesia #pcdawareness #geneticTherapies #geneticdisease #ciliopathies #raredisease #rarediseases #pcdawarenessmonth

For PCD awareness month 2024, we asked people with primary ciliary dyskinesia and parents of children with PCD to tell us what mattered most to them. #patientvoice #pcdawareness #primaryciliarydyskinesia #pcdresearch #raredisease #pcdawarenessmonth24 #rarediseases

Celebrating the success of our inaugural event - the Rare Disease Industry Accelerator day on the 1st October. Thank you to our sponsors who made the event possible, together with a diverse audience from all stages of drug development to share in really rich discussions. Particularly grateful to the speakers and session chairs who were praised for their very high standard of presentations, and ability to facilitate meaningful discussion. Sponsors: ReCode Therapeutics, Weatherden, LifeArc, MRC National Mouse Genetics Network, Pinsent Masons, AXON and the LifeArc Centre for Rare Respiratory Diseases. Volunteer in chief, Florence Barkats led our small and mighty team of volunteers and pro bono supporters with special thanks to Monica Dawes, Dan Glatman and Evangelo Panagi, Samantha Robinson (she/her), Nat Turner, Caroline McHugh and Amy Dréan. Steven Brody, Carlos Milla, Pleasantine Mill, Kath Bainbridge (DHSC), Dr Sam Barrell CBE, James Chalmers, Amelia Shoemark, Jane Davies OBE, Thomas Ferkol, sara wells MBE, Emma Rawlins, Matthew Durdy, Kirsty Wydenbach, Daniel O'Connor, David Bick, Matthew Lumley, Rick Thompson, Lucy Allen, Joseph Jacob, John Matthews, Steven Robery and Kev Dhaliwal. #rarediseases #raredisease #advancedtherapies #primaryciliarydyskinesia #pcdresearch #ciliopathies #cilia

October is Primary Ciliary Dyskinesia (PCD) awareness month. I’ve shared several stories about my daughter’s journey with this rare, incurable disease but did you know… 🩻Less than 3000 people in North America have been diagnosed with this disease 🩺Due to delayed or misdiagnose of this disease, up to 25,000 people could have PCD and not know it ⚕️Cilia is responsible for placement of internal organs. Since the cilia does not move, organ placement can become a random event. 😷50% of PCD patients have a condition called “situs inversus” in which the internal organs are moved to the opposite side of the body 🦠Currently there are only 44 identified PCD gene mutations 🤒PCD is associated with significant illness and quality of life deficits throughout the lifespan 🥺PCD is progressive 😪There is no cure On a personal level… 🦻🏻PCD has robbed my daughter, Elana, of her hearing and lung function. 😔The psychological and emotional trauma this disease has caused her is beyond heartbreaking. 🤧My girl has been sick from the moment she was born. The first sound she made was not a cry but a cough. 🥴Elana has coughed and wheezed every single day since she was born. 🫁Her lungs have never been clear. They never will be. 👊🏻Elana will battle this disease for the rest of her life. As she ages, the battles get larger. 🩷As for me, being the mother of an amazing daughter with a monstrous disease, I will continue to fight by her side and raise awareness anyway I can. 🧡For more information about PCD, please contact myself or the PCD Foundation at www.foundation.org #primaryciliarydyskinesia #pcd #pcdawareness #raredisease #rare #lung #lungdisease #hearingloss #hearingaids

As we conclude the Oxford-Harrington Rare Disease Symposium 2024, we look back on three days filled with active collaboration and insightful discussions on rare disease research and development, regulatory pathways for rare disease therapies, and patient care and access to treatments. Thank you to Danaher Corporation, Moderna, and PepGen for sponsoring this year's symposium. We also wish to thank our symposium speakers, delegates, industry collaborators, and charity partners for their active contribution to this event. The Little Princess Trust Duchenne UK Dravet Syndrome UK Ataxia UK Kidney Research UK Mila's Miracle Foundation Muscular Dystrophy UK Cure DHDDS PCD Research 📸 Photography by Cyrus Mower

The inaugural PCD Research industry accelerator brought in a huge global consortium of professional stakeholders including biotechs, pharma, investors, regulators, and attendance by the US, Australian, Brazilian, German, and Spanish #PCD patient advocacy charities. Interesting how many elements of the discourse in rare disease: de-risking the environment, creating clarity in the regulatory platforms and engaging with regulators, the need for large long term data sets and registries, and leveraging all those elements to optimise the value proposition for investors and thereafter buyers/payers - are all “live” topics in my “working” world of medical devices too. Really grateful for our scientist and clinician scientist KOLs, the leading physicians representing the US, and our sponsors LifeArc (congratulations to Dr Sam Barrell CBE on the recent appointment as CEO and making time for us on stage), ReCode Therapeutics (pleasure speaking to John Matthews on our mutual sense of urgency and how to push recruitment into trials), MRC National Mouse Genetics Network, Weatherden, AXON (the conference brochure was unquestionably impactful and beside the immaculate execution the Axon team were incredible to work with), Pinsent Masons (who have been fundamental in supporting PCD Research and we are hugely grateful to Gina Bicknell and her team who stepped in again to extended their support for Day 2 and the patient advocacy global summit in their London HQ chaired by PCD Foundation). Finally, really can’t understate the value of volunteering and driven volunteers. It was a 14 hour day for many of us yesterday. That doesn’t count the 1000s of hours required to drive this event, our charity and others in general in the #raredisease space…but unquestionably worthwhile. Grateful to Orthofix, it’s really important to have employers who actively support their people in taking on volunteering work and passion projects impacting communities in the broader sense.

Starting #PCDawarenessmonth with PCD Research’s inaugural rare disease industry accelerator event - getting cilia moving. A huge thank you to the the faculty, sponsors and our tiny but mighty team of volunteers led by Florence Barkats who made this day possible. I look forward to sharing some of the photos and insights from the day soon. #treatments #raredisease #rarediseases #primaryciliarydyskinesia LifeArc ReCode Therapeutics MRC National Mouse Genetics Network

Starting #PCDawarenessmonth with PCD Research’s inaugural rare disease industry accelerator event - getting cilia moving. A huge thank you to the the faculty, sponsors and our tiny but mighty team of volunteers led by Florence Barkats who made this day possible. I look forward to sharing some of the photos and insights from the day soon. #treatments #raredisease #rarediseases #primaryciliarydyskinesia LifeArc ReCode Therapeutics MRC National Mouse Genetics Network