PC Newsletter
Vol 19, No. 4
Jul – Sep 2024
Patients and Experts Gather in Lisbon for an Uplifting and Educational Patient Support Meeting
What a fantastic time we had in Lisbon, Portugal, from September 1-3, as we connected with old friends, made new ones, and were inspired by our amazing PC community. One attendee expressed it best: “There was so much love!”
Thanks to the experts, helpers, family members, and most of all, the patients who came together for presentations, group discussions, physician evaluations, and shared the best ways to navigate life successfully with a painful, rare disease. We all learned firsthand that we are not alone.
We were especially impressed by adults helping young adults, and then teenagers helping children. It was heartwarming to see multilingual attendees translating for others who spoke Spanish, French, and German. We truly have a community full of giving people.
In addition to the regular patient support meeting schedule, some of our patients and physicians participated in a unique project sponsored by Kamari Pharma. The project aims to develop a tool for clinicians to assess PC severity in patients, with the goal of improving future clinical trials for PC therapeutics.
We extend our heartfelt thanks to PCer and event planner Jenny Hart for her assistance with our meeting, as well as to Kamari Pharma and Ten Bio for their support. We are grateful for their efforts to improve the lives of those who experience daily PC pain.
Our 2025 Patient Support Meeting will be in the US at a location and on a date still to be determined. Stay tuned for more information coming soon.
Key PC Leaders Strategize and Guide PC Project
After the Patient Support Meeting, some of PC Project’s top Medical and Scientific Advisory Board members gathered for an afternoon and evening in Lisbon to plan and strategize on how to most effectively advance PC research. Part of the meeting included reports and discussions from each IPCC committee leader.
In the photo above, from left to right: Pierre Coulombe, Holly Evans, Irwin McLean, Robyn Hickerson, Janice Schwartz, Joyce Teng, Alain Hovnanian, Edel O’Toole, David Hansen, Angela Hernandez-Martin, and David Kelsell. A notable absence was our wonderful IPCC chair, Eli Sprecher, who could not attend due to circumstances beyond his control.
We can hardly believe we have such fabulous professionals who generously give their time and expertise to PC patients. Many thanks to all of them for their sacrifices and dedication to our cause!
Learn more and see photos here.
PC Project Invited to Present in a Special Patient Session and Exhibit at EDSR Meeting
We sincerely thank the European Society for Dermatological Research (ESDR) for providing PC Project with a significant platform to showcase our valuable collaboration between patients and researchers during a special patient session at their annual meeting in Lisbon, Portugal, on September 4, 2024. Through a series of presentations, PC Project highlighted how our patient community—and our registry—work hand in hand with the scientific community to accomplish our goals.
Representing PC Project was David Schwartz, who gave opening and closing remarks; Tom and Tim Baker, who bravely wore flip-flops to ease their pain and illustrate the daily challenges of living with PC, and spoke on the benefits of being part of the International PC Research Registry; and Professor Edel O’Toole, a dedicated member of the PC Project Steering Committee and Genetics Team. Prof. O’Toole tirelessly supports our registry patients and presented on current PC research projects.
Additionally, the ESDR graciously provided PC Project with an exhibit table to spread awareness and network with researchers throughout the conference.
These types of opportunities are crucial for rare skin conditions like PC, which often struggle to attract attention in the scientific and drug development communities. We appreciate the leaders of the ESDR for recognizing the importance of patient voices and for their continued support of patient advocacy organizations like PC Project at their annual meetings.
Learn more and see photos here.
PC Project Awards a Three-Year Grant to Deliver Gene Editing Tools to Skin
In collaboration with the EI Cure Project and the Medical University of Innsbruck, PC Project is pleased to announce our support for a 3-year project titled “Delivery of keratinocyte-targeting nanocarriers loaded with gene-editing tools to skin.”
The lead researchers are Professor Matthias Schmuth, a long-time member of the International PC Consortium, and Dr. Daniela Ortner-Torbider. The proposal states, “Our project aims to explore methods to accurately target gene-editing of skin using base-editors packaged in a Lipid Nanoparticle carrier. We will explore the use of lasers, micro-needling, and direct topical application to determine the most effective treatment for keratin disorders, including PC, EI, and EPPK.”
Learn more about this grant and other research proposals PC Project is currently funding.
Research proposals submitted through our regular grant application cycle by August 31 are currently under review by the PC Scientific Committee, and awards will be announced by November 1, 2025.
PC Project is always eager to collaborate with researchers with compelling ideas that can lead to effective treatments for PC. If you have an interesting idea at any time, please reach out to us.
Finally, many thanks to our generous donors. Without you, these exciting research projects would not be possible.
Tips for School Success for Children and Teenagers with PC
In many parts of the world, this is the time of year when children with PC have returned to school. For several years, we have collected ideas from parents who have PC or children with PC about how to navigate school successfully.
Read the tips here if you are looking for helpful ideas on how children and teens can manage school with PC.
If you have additional tips for our PC schoolchildren, please share them with us at info@pachyonychia.org so we can add them to the list.
Quinoa Harvest and Andean Festival Raises Funds and Awareness for PC
On September 21, Dr. Roger Kaspar and his family organized and hosted the 4th annual Quinoa Harvest and Andean Festival in Panguitch, Utah, to raise awareness and funds for PC research.
The day started with a spectacular music concert in Casto Canyon, near Bryce Canyon National Park, followed by a potluck lunch featuring quinoa dishes and insights from quinoa experts. Who knew so many delicious things could be made with quinoa? The day concluded with an evening dinner of authentic Peruvian food and entertainment, including traditional Andean music, singing, and dancing.
At the dinner, PC Project recognized Dr. Kaspar’s tremendous contributions to PC research over the past two decades. Through this fun event, PC Project educated tourists and locals about the meaningful work being done to help people suffering from this little-known condition. What’s more, the festival raised approximately $2,000 for PC research!
If you organize a fundraiser for PC in your part of the world, please let us know so we can share it with our global PC community.
Watch a short video and learn more about the Festival.
A Message From a PC Researcher
I am Amanda Orosco, a fifth-year graduate student in the lab of Dr. Pierre Coulombe, and I am studying keratin 16’s role in keratinocyte differentiation and epidermal homeostasis, with a particular focus on palmoplantar skin. One among many goals of my thesis research is to produce a mouse model with a human PC-causing mutation in the keratin 16 gene. Generating such a mouse strain has been challenging, however, in large part because the keratin 16 gene is difficult to target. Still, we are confident in our ability to produce a mouse that genetically and phenotypically recapitulates PC. More on this at future PC events!
I wish to express my admiration and gratitude for the PC Project, Janice Schwartz, Holly Evans, and all the PCers. Your involvement and tireless efforts with this organization have significantly informed my research, in part because of the genetic and phenotypic data, and also the testimonials provided by individuals with PC. Your stories, courage, and the love shared between all the PCers have been tremendous sources of motivation for me during this journey. Stay tuned!.
Does Your Workplace Support Charitable Giving?
As we enter the final quarter of the year, many companies with a philanthropic mission begin considering the charities they want to support. Is your workplace one of them?
If your employer or company makes year-end contributions, we encourage you to introduce them to the vital work being done by the PC Project. We are dedicated to improving the lives of rare disease patients across the globe, and perhaps our efforts have even impacted you or someone in your family. Please consider asking your employer to support PC Project or PC Project Europe, both trusted and compliant nonprofit organizations in good standing.
There are many ways to contribute beyond a simple donation. Your company could become a monthly donor, or give through stocks, bonds, or mutual funds by donating to our PC investment account. Estate planning is another meaningful option that ensures your legacy continues to support the cause.
Remember, every donation, no matter the size, makes a difference and adds up quickly to create a significant impact. We extend heartfelt thanks to each of you who have already contributed, whether in large or small ways. Your support means the world to us. Without it, our crucial work would not be possible. Together, we make a difference—because if we don’t, no one else will.
Thank You to Our French Patients for Giving Some of Their Skin!
Merci beaucoup to the 10 PC French patients who donated biopsies of their skin for an important research project!
In the words of Professor Alain Hovnanian, we “thank them for their participation in an important study aiming to understand the biological cascades which are activated or inhibited (or dysregulated) in PC skin to guide new treatments.”
We know it is not easy to give a biopsy, especially with PC skin which hurts so much more than regular skin. We so appreciate the French patients who sacrificed for this research.
Merci beaucoup aux 10 patients français PC qui ont fait don de biopsies de leur peau pour un projet de recherche important !
Selon les mots du professeur Alain Hovnanian, nous « les remercions pour leur participation à une étude importante visant à comprendre les cascades biologiques activées ou inhibées (ou dérégulées) dans la peau PC pour orienter de nouveaux traitements ».
Nous savons qu’il n’est pas facile de faire une biopsie, surtout avec une peau PC qui fait bien plus mal qu’une peau ordinaire. Nous apprécions tellement les patients français qui se sont sacrifiés pour cette recherche.
