PC Newsletter
Vol 19, No. 5
Nov 2024
November is a month of Thanksgiving here in the US, when we turn our focus to the people and things we are most grateful for. At the top of our list is YOU and in this newsletter, you will read about just some of the programs and activities that cause our hearts to be full of thanks including the following:
- Announcement of nearly $350,000 worth of research grant awards
- Details and registration for the 2025 PC Patient Support Meeting and the IPCC Symposium
- Events that featured our important work
- Fulgent and the ASHG
- PeDRA Conference
- Genomics for Dermatology Course
- British Association of Dermatology Meeting
- Registry growth chart
- Shopping for PC
- In kind donations of appreciated stocks
- Results from communications survey
- Fundraiser: Running for those who cannot
- Links to PC social media channels
- Publication highlights
So many of these projects are possible because of our very involved global community. Thank you. In the weeks to come, we will begin our largest fundraising campaign of the year. At that time, we hope you will consider giving what you can (and everything will be double matched!) so we can continue the remarkable programs and services of PC Project.
PC Project Awards $350,000 for Research Grants
PC Project is pleased to announce the award recipients of the 2024 PC Research Grant cycle. Nearly $350,000 was awarded for PC-specific research projects which are designed to help PC and other painful PPKs (palmoplantar keratodermas).
Each proposal was independently reviewed and scored by members of PC Project’s IPCC Research Committee, then all were discussed at length in a group meeting before final recommendations for funding were given to the PC Project Board of Trustees. Click here for details about these and all the research projects currently funded by PC Project.
Thank you to all the scientists who applied. Because PC is rare, we sincerely appreciate the interest of researchers, whether they are funded by us or not, who dedicate time, labor, and expertise to advancing our knowledge of PC with the goal of finding effective treatments and eventually a cure for PC and other conditions that cause painful PPK.
Finally, to all who donate to PC Project, we express our heartfelt gratitude to you for making these critical research projects possible.
2025 Patient Support Meeting Registration Open
We are excited to announce the next US based Patient Support Meeting will be held May 4-6, 2025 in San Diego, California at the Hilton San Diego Airport/Harbor Island Hotel.
Prepare now to join us as we learn, teach, and inspire one in our PC community.
Physicians and researchers are encouraged to come a few days early to the IPCC Symposium (and the SID), to attend an uplifting meeting with our patients and their families. Industry representatives are invited to sponsor our special meeting.
Details and registration here.
PC Project’s Annual IPCC Symposium to be Held May 7, 2025
Attention Researchers and Physicians! You are invited to attend the Annual International Pachyonychia Congenita Consortium (IPCC) Symposium, to be held Wednesday, May 7, 2025, from 8:00 am – 2:00 pm PT at the Hilton San Diego Bay Front, in conjunction with the Society for investigative Dermatology Meeting.
Plan now to join us for our annual collaborative event with top scientists in the rare skin disease space. As you make your travel arrangements, be sure and include time to enjoy to our traditional (and super fun) IPCC dinner the night before on May 6th.
Registration is free for interested researchers and medical professionals, but you must pre-register. Industry representatives are welcome to join in exchange for a sponsorship of the meeting or a donation to PC Project.
Find more details here.
Fulgent Highlights Collaboration with PC Project at American Society of Human Genetics Conference
By Shabri Rathod, MS, CGC, Laboratory Genetics Counselor, Fulgent Genetics
I was first introduced to the PC Project and pachyonychia congenita as a rare disease after working with Holly Evans and Janice Schwartz in January 2024 to address uncertain genetic testing results. These results were for a family referred for genetic testing through Fulgent Genetics by the IPCRR (the patient registry), and they were impacted by the molecular complexities associated with the KRT6A, KRT6B, and KRT6C genes. Over the next six weeks, a team of dedicated personnel from Fulgent—including bioinformaticians, wet lab staff, curation scientists, lab directors, and genetic counselors—collaborated with insights from the PC Project team to resolve the uncertain findings. Our primary goal was clear: to deliver high clinical utility and standard of care to our mutual patients and ensure positive outcomes. Being closely connected to the patient experience is important to me as a Genetic Counselor, and I value the opportunity to share with the medical community how we can make a meaningful difference for pachyonychia congenita patients by providing thoughtful and well-researched results.
Earlier this month I had the opportunity to present our abstract and poster presentation at the American Society of Human Genetics (ASHG) annual conference. The research is titled “Molecular Diagnostic Findings of 166 Patients with Pachyonychia Congenita” and highlights the clinical utility of Fulgent Genetics’ Custom Next-Generation Sequencing (NGS) Panel developed for the PC Project and IPCRR. Using a specialized NGS workflow with long-range polymerase chain reaction (PCR) confirmation, we observed positive diagnostic variants in 110 patients, unresolved variants of uncertain significance in 34 patients, and negative findings in 22 patients. During the poster session, I had the chance to introduce medical professionals nationwide to pachyonychia congenita. I also shared resources from the PC Project with physicians who believe they might have encountered a patient with this condition but were unaware of the benefits of enrolling in the IPCRR.
The partnership between Fulgent Genetics, a clinical diagnostic genetic testing laboratory, and the PC Project has enabled us to offer valuable molecular diagnostics to patients, helping them find the answers they seek as well as allowing them access to medical resources and clinical trials. At Fulgent we are excited to continue our diligent and collaborative work with the PC Project, serving our patients with care and dedication.
NOTE: Shabri’s submission at the genetics conference was selected as a “Reviewers’ Choice Abstract” because it was scored in the top 10% of all poster abstracts.
Learn more about PC Project’s collaboration with Fulgent Genomics.
PC Project Exhibits and Educates Pediatric Dermatologists and Researchers at PeDRA 2024
PC Project joined the Pediatric Dermatology Research Alliance Annual Conference in Arizona last month to exhibit, learn and make new and important connections.
Our goal was for every professional in attendance to know about PC (including the early signs of PC and how it affects children) and the work PC Project does to support pediatric dermatologists and researchers. And we think/hope we did it! Getting PC recognized in the clinic in the earlier years of life is important so patients do not have to wait for decades to get a diagnosis.
Thanks to PeDRA for providing travel scholarships for us to attend.
Learn more about the event, including our new infographic, for pediatric dermatologists.
Meeting With Local Patients
We can’t help ourselves! When we travel for PC Project, if possible, we try and connect with local registry patients. After the PeDRA conference, we met with some of our local PC family members for lunch and as usual, the bonds formed quickly. At these gatherings, no one feels like they have to hide the fact that they have PC. We were especially touched at the interactions and shared advice between those who have lived longer with PC and those who are earlier on their journey. There’s a reason our logo includes a heart. Love and kindness flow freely in our community, even among people meeting for the first time.
PC and PC Project’s Impact Highlighted at Genomics for Dermatology Course
Our executive director, Janice Schwartz, was invited to speak as part of a three day course, Genomics for Dermatology, at the Wellcome Genome Campus, UK. Her talk, “Pain, isolation, and the life-changing work of PC Project” highlighted the plight of our patients and the real hope and answers we provide for patients all over the world. After the talk, Janice answered questions from the audience.
Thanks to the organizers of the course for including patient voices in the program, and for giving rare diseases like PC a platform where we can educate younger scientists and medical professionals that there are real and suffering people for whom their work is making a vital difference.
PC and the Foot Function Index
Over the course of several months, PC patients filled out a foot function survey.
Jaimie Oldham, a researcher under the direction of Professor Edel O’Toole wrote, “I presented work this summer looking at the Foot Function Index (FFI) in PC at the British Association of Dermatology Conference. The Foot Function Index is a patient-reported score that measures pain, disability and foot function. Our team’s analysis found that PC has a similar impact on foot function to patients with rheumatoid arthritis. Some genotypes such as KRT16 may well have a bigger impact than others.
The hope is that the FFI can be used in PC trials in the future to see how it performs as a patient-reported outcome and thereby show benefit of new medications.
I would like to thank the team at the PC project for helping establish the study and all the participants of the PC registry who kindly took the time to take part in the surveys when they were emailed out earlier in the year.”
Holiday Shopping for PC
You can raise money for PC, simply by doing your regular online holiday shopping!
When you shop online, go to yaour favorite stores through the platforms below. They are set up to donate a percentage of your purchase to PC Project – at no extra cost to you.
Start shopping for PC going forward by using the following links when you need to make a purchase:
UK Online Shopping:
giveasyoulive.com/join/pcproject-eu
USA Online Shopping:
iGive.com/PCProject or
goodshop.com/nonprofit/pachyonychia-congenita-fund-pc-project
The Ever-Growing Patient Registry
The International Pachyonychia Congenita Research Registry (IPCRR) continues to grow and give patients all around the world a life-changing and accurate diagnosis. Because of the registry, we know who our patients are, where they are located, and their specific genetic variation, which is critical for clinical trials.
This powerful registry has accurately defined the PC syndrome and continually provides valuable insights into PC and other rare, painful skin conditions.
Join the registry or refer a patient here: https://www.pachyonychia.org/patient-registry/
See other registry data including specific genetic variations
In-kind Donations of Appreciated Stock
For those who wish to make an end- of-year in-kind donation of appreciated stock to PC Project, please contact our executive director, Janice Schwartz directly at 801-987-8759 or at jan.schwartz@pachyonychia.org. She will connect you with our investment account advisor to make this tax-saving process simple and seamless.
Also, remember that at this time of year, many companies with a philanthropic mission are considering the charities they want to support.
If your employer or company makes year-end contributions, we invite you to introduce them to the vital work being done by the PC Project, especially if we have made a difference for you and or someone you care about. You can download our brochure to share if desired.
Results From the Newsletter and Communications Survey
We extend a big thank you to everyone who participated in our recent survey about our newsletter and community engagement activities.
Your input is invaluable to us, and we’re grateful for your time, insights, and thoughtful feedback. With your help, we’ve gained a deeper understanding of what matters most to you. We share topline results on our website along with our plans moving forward to serve our community even better.
With such a small staff, we are always looking for ways to improve and we appreciate your help.
Family Member of PCers Runs in Their Honor
Well done to Samantha Hassen, for running the Windsor Half Marathon in honor of her family members who deal with the daily pain of PC and who cannot run themselves. Sam created a fundraiser through JustGiving to raise money for PC while she trained.
After the race, Sam wrote, “A brilliant first half marathon experience, made all the better knowing it was for such a good cause. Thanks to everyone’s help, we managed to raise £1,065 for PC Project! I hope this goes in some small way to supporting the charity in bringing sufferers and their families together.”
Get all the details here and enjoy photos of Sam on race day, including her holding a fabulous sign made by her aunt to show why she ran!
Note: If you organize a fundraiser for PC, please let us know so we can share it with our community.
Do You Know PC Project is on Social Media?
PC Project has a presence on Facebook, Instagram, X (Twitter), YouTube and LinkedIn. If you have accounts on those pages and wish to follow us, click on the icons below and enjoy our regular postings about activities, facts about PC, fun campaigns, and features of the wonderful people in our global community.
https://www.facebook.com/pachyonychia
https://www.instagram.com/pachyonychia
https://twitter.com/Pachyonychia
https://www.youtube.com/@Pachyonychia
https://www.linkedin.com/company/pachyonychia
Publications Highlights
In large part to our International PC Consortium and our International PC Research Registry data, we’ve seen excellent articles published in the past months that are relevant to PC and other painful PPKs. Below are some that you may want to look up and read. Most are accessible online. If you do not understand everything in these articles, the most important thing to know is that the work goes forward!
- Coulombe, P. A., Hansen, D., Hickerson, R., Hovnanian, A., O’Toole, E. A., Kelsell, D. P., Evans, H., Schwartz, J., & Sprecher, E. Celebrating 20 Years of the International Pachyonychia Congenita Consortium. J Invest Dermatol. Published online October 25, 2024. doi:10.1016/j.jid.2024.07.033
- Wittmer AN, Nguyen CM, O’Toole E, Schwartz J, Evans H, Hansen D. Non-pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry. Int J Dermatol. Published online November 14, 2024. doi:10.1111/ijd.17573
- Curtis KL, Schwartz J, Evans H, Lipner SR. Pachyonychia congenita: Spectrum of cutaneous disease. J Am Acad Dermatol. Published online July 14, 2024. doi:10.1016/j.jaad.2024.07.1443
- McCarthy RL, de Brito M, O’Toole EA. Pachyonychia congenita – pathogenesis of pain and approaches to treatment. Clin Exp Dermatol. Published online May 28, 2024. doi:10.1093/ced/llae199
- Weinberg RL, Kim S, Pang Z, et al. Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma. J Neurosci. 2024;44(28):e0260232024. Published 2024 Jul 10. doi:10.1523/JNEUROSCI.0260-23.2024
- Ge WW, Chen ZM, Chou MW, et al. Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma. Clin Cosmet Investig Dermatol. 2024;17:1111-1116. Published 2024 May 16. doi:10.2147/CCID.S462273
- Kork H, Yıldırım G, Altan Ferhatoğlu Z. A Rare Case of Pachyonychia Congenita and the Need for Awareness. Balkan Med J. 2024;41(4):317-318. doi:10.4274/balkanmedj.galenos.2024.2024-2-23
- McCarthy RL, Schwartz J, Oldham J, et al. A cross-sectional study of erythromelalgia in patients with pachyonychia congenita. Br J Dermatol. 2024;191(2):300-302. doi:10.1093/bjd/ljae143
- Liang J, Li R, Liu C, et al. A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature. Heliyon. 2024;10(5):e27195. Published 2024 Mar 1. doi:10.1016/j.heliyon.2024.e27195
- Del Caño LR, South AP, O’Toole EA, Kelsell DP, Blaydon DC. A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma. J Invest Dermatol. 2024;144(9):2092-2096. doi:10.1016/j.jid.2024.02.028
- Nanes BA, Bhatt K, Azarova E, et al. Shifts in keratin isoform expression activate motility signals during wound healing. Dev Cell. Published online July 9, 2024. doi:10.1016/j.devcel.2024.06.011
- Paller AS, Rangel SM, Chamlin SL, et al. Stigmatization and Mental Health Impact of Chronic Pediatric Skin Disorders. JAMA Dermatol. 2024;160(6):621-630. doi:10.1001/jamadermatol.2024.0594
- Tran TNA, Vu TTP, Pham NN, Bui CB, Nguyen HT. Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene. Pediatr Dermatol. Published online July 8, 2024. doi:10.1111/pde.15701
- Noda T, Takeichi T, Tanahashi K, Muro Y, Akiyama M. A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology. J Dermatol. 2024;51(8):1134-1136. doi:10.1111/1346-8138.17367
