PC News Brief
Vol 19, No. 1
Jan-Feb 2024
We hope your new year has had a brilliant and happy start. Ours certainly has because the progress never stops! Highlighted below are some of the important stories and announcements in our community. And please remember to regularly check the News and Events section of our website to stay current on all that is happening in our PC world.
Town Hall for Patients and Their Loved Ones
Have you ever wanted talk with doctors and scientists who understand PC? Or ask questions of professionals who have reviewed cases and met with hundreds of patients with PC or similar rare diseases with painful palmoplantar keratoderma (PPK)?
On Saturday, March 23, at 10am MT/12pm ET, we will hold a virtual Town Hall, featuring some of the best PC and PPK experts in the world.
The Town Hall will start with a short update from PC Project, followed by a live Question and Answer session. Register in advance to submit your questions and receive the Zoom link to gather online with our community.
2024 European Patient Support Meeting
Patients, especially those in Europe, please save the date and plan to join us in Lisbon for our annual Patient Support Conference, September 1-3, 2024.
We are just finalizing arrangements with the lovely Altis Grand Hotel in the historic part of Lisbon, and we will be opening registration within the next week or two.
Interested scientists and physicians are welcome to come to the ESDR (European Society of Dermatology Research Meeting) a few days early and join with our fabulous patients and their families.
20th Annual IPCC Research Symposium
To all researchers and physicians interested in pachyonychia congenita (PC) and other rare conditions with painful palmoplantar keratoderma, please join us either in person or virtually on May 15, 2024 for the 20th Annual International Pachyonychia Congenita Consortium (IPCC) Symposium, aligned with the Society for Investigative Dermatology Annual Meeting.
In 2004, our newly established PC Project charity invited researchers and physicians from around the world to gather for the first time to discuss how to initiate and advance PC research. At that pivotal meeting, the IPCC was formed, and it has been thriving and leading PC research ever since.
We invite all interested professionals to join us for an exciting lineup of excellent science and collaboration as we celebrate how far we’ve come and what we have to look forward to.
As part of our plans, we are pleased to be joining with Darier and Hailey-Hailey Disease researchers for their inaugural symposium and a special combined dinner on May 14.
Get all the details and register here to attend in person or for the Zoom link
PC Research Agenda: Guide for the Future
One of PC Project’s high-priority strategic goals was to develop and disseminate a PC Research Agenda (RA). We are thrilled to announce that this document is complete and has been published in the prestigious Journal of Investigative Dermatology. This important document will guide PC research and funding going forward.
The RA was a major undertaking that required hours of dedication and input from key thought leaders in our field. Dr. Helaine Resnick spearheaded the project and coordinated the work with Drs. Eli Sprecher and Edel O’Toole serving as the RA co-chairs, and Drs. Pierre Coulombe and David Kelsell assisting.
Thank you to the PC patients in our registry who filled out a survey outlining what aspects of research would be most important to them and what features of PC they want to see treated most.
Finally, we give our great thanks to all the publication authors, who are dedicated experts in our disease space, for their monumental efforts in making this vital project a reality.
Read the Research Agenda and learn about its importance here
Spread the Word about PC and Other PPKs for Rare Disease Day
Once a year, across the world, organizations and people like us honor and raise awareness for those living with rare diseases like PC.
On Thursday, February 29, we invite you to share with your friends, family, and acquaintances what it’s like to live with PC.
You can also let them know that PC Project is the only organization in the world that supports patients and funds research for PC, and invite them to make a donation on that special day when we highlight our rare and painful condition.
And, if you follow PC Project on social media, we will be having an Instagram/Facebook Live at 12pm MT/2pm ET on Rare Disease Day to talk about PC and the great work we are doing to let the world know about patients with painful skin who need meaningful treatments right away.
See all more information about Rare Disease Day on our website
Interactive Genes and Mutations Charts
We invite you to explore our new Power Bi interactive table with the most current listing of PC genes and specific mutations in the Registry.
As more and more patients join the International PC Research Registry, we are steadily increasing our data collection of PC – and other rare skin diseases with features similar to PC.
Our plan is to display more of our de-identified data publicly through Power Bi charts so we can better share what we are learning. We also hope to demonstrate to drug developers that we have a growing group of known genetically confirmed patients in our registry who need treatments.
If you do not have PC but have joined our registry and were given a genetic diagnosis through PC Project, we have a community and a mutations chart for you, too! We care about all patients who come to us for help and answers, including you!
PC Community Spreads Love for Valentine’s
If you follow PC Project on Instagram or Facebook, you have probably already been enjoying our delightful PC Valentine’s campaign during the month of love.
If you aren’t on those social media platforms, no problem. (You can click on the icons at the bottom of this newsletter to follow us if you’d like.)
We’ve shared parts of the #MyPCValentine campaign for you on our website so you can see how members of our community shared photos of their PC Valentine’s and told us why those people are so special.
We think you will agree that we have the most beautiful, adorable people in our global PC community – and that there is plenty of love to go around. It’s no wonder we have a heart in our PC Logo!
A Simple Way to Raise Funds to Help PCers
Looking for ways to support PC Project while doing something you already do?
You can raise money for PC, simply by doing your regular online shopping!
When you shop online, go to your 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
PC Publication Highlights
Because of the data in our International PC Research Registry and registry addendums, more than ever is known about PC. Below are just some of the recent publications that apply to us:
- Mccarthy RL, De Brito M, O’Toole E. Pachyonychia Congenita: Clinical Features and Future Treatments. Keio J Med. Published online September 28, 2023.
- Li P, Rietscher K, Jopp H, Magin TM, Omary MB. Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases. Curr Opin Cell Biol. 2023;85:102264.
- Fuchs C, Stalnaker KJ, Dalgard CL, et al. Plantar Skin Exhibits Altered Physiology, Constitutive Activation of Wound-Associated Phenotypes, and Inherently Delayed Healing. J Invest Dermatol. Published online January 17, 2024. doi:10.1016/j.jid.2023.12.016.
- Chu HT, Dinh Duong TA, Le DH, et al. Phenotype and genotype features of Vietnamese children with pachyonychia congenita. Pediatr Neonatol. 2023;64(4):405-410. doi:10.1016/j.pedneo.2022.09.018.
- Schwartz JN, Evans HA, O’Toole EA, Hansen CD. Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration. Keio J Med. Published online December 8, 2023.
- Athota K, Prabhu SS. Pachyonychia Congenita: Sporadic Onset with Mutation Analysis. Indian Dermatol Online J. 2023;14(5):703-705. Published 2023 Jul 10. doi:10.4103/idoj.idoj_533_22.
