PC Newsletter
Vol 20, No. 2
Mar-Apr 2025
In this newsletter, we invite you to explore the following announcements and activities:
- PC Project’s Two Biggest Meetings of the Year
- PC Research Update on Gene Editing
- PC Project at the AAD
- Join the Board of Trustees
- Parenting Strategies for Raising PC Children
- Educating Dermatology Nurses
- Coalition of Skin Diseases Development Day
- Rare Disease Day Stories From Our Community
All our efforts are designed to help the patients and their families who continually turn to us for assistance and to find meaningful and lasting solutions for their rare skin conditions!
PC Project’s Two Big Meetings in San Diego
The past months have been packed with activities, especially as we’ve prepared for our two biggest PC Project-hosted meetings of the year in San Diego this coming week. Even if you aren’t attending, we invite you to check out the agendas on our website and read about the activities planned for the Patient Support Meeting and the speakers, including their bios and talk abstracts, who will be presenting at the IPCC Symposium, aligned with the Society for Investigative Dermatology Meeting.
Many thanks to the companies who are partnering with PC Project to make our two annual events a success: BioMendics, Kamari Pharma, and Ten Bio.
We’ll give you a full report once the events are over, but watch for more immediate updates on our social media channels.
Developing Experimental Treatments to Eliminate the Defective Gene in KRT6A Using the CRISPR/Cas Technique
Research Update from Marta Garcia Diez, PhD, PC Project Grant Award Recipient:
In a previous study in our laboratory, we developed a model of the disease using cells from patients with a specific genetic mutation. This allowed us to recreate the effects of the disease in a humanized mouse skin model. Gene therapy is the most promising strategy for treating this disease, as it aims to deactivate the mutated allele of the gene, which negatively affects the healthy allele. Traditional therapies, which attempt to introduce a functional copy of the gene, are not effective in this case.
Thanks to advancements in genetic editing technology and using a molecular tool known as CRISPR/Cas, we can now explore ways to specifically remove the mutated allele of the gene. These “molecular scissors” only activate and remove the target allele under specific conditions.
We discovered that a particular mutation in the KRT6A gene, which is affected in this disease, creates the right conditions to activate the scissors and remove only the mutated allele.
We have tested this technique on patient cells in the laboratory with successful results: We were able to correct the gene and restore the skin’s structure.
Currently, our goal is to find a way to directly introduce these tools into the patients’ cells, without the need to extract, correct them in the lab, and then transplant them back to the patient. To achieve this, we are working on developing the best delivery vehicle that can carry these tools directly into the patients’ skin, thus solving the problem in the mutated cells.
PC and PC Project Represented at AAD 2025
PC Project and especially you, our patients, were represented at the 2025 American Academy of Dermatology Meeting, which is attended by tens of thousands of dermatologists across the world.
Janice Schwartz, PC Project’s executive director, was invited to speak at a session about rare skin diseases, now classified as Epidermal Differentiation Disorders or EDDs. These EDDs include PC and the other rare skin conditions represented by PC Project.
To be included with this prestigious line up of dermatologists/scientists was an honor. Because our disease is rare, we were incredibly thankful to be given a platform at this prestigious conference to highlight the impact of PC on patients, the research work of PC Project, and potential treatments we are exploring.
An impressive lineup of experts, Drs. Cheryl Bayart, Amy Paller, Keith Choate, Antoni Gostynski, Joyce Teng, Juliette Mazereeuw-Hautier, Angela Hernández Martín, and patient representative for ichthyosis, Denise Gass, presented during the session.
Join the Board of Directors – Help Lead the Future of PC Research and Support
PC Project, a US based 501(c)3 charity, is growing, and we need dedicated, passionate individuals in the United States to join our Board of Directors! We currently have five open, non-paid board positions, and we are inviting members of our community to apply or nominate someone who would be a great fit.
Why Join the Board?
As a board member, you will play a key role in shaping the future of PC Project by providing leadership, expertise, and support for our mission. This is an opportunity to make a meaningful impact on the lives of those affected by Pachyonychia Congenita while working alongside a team of committed professionals and advocates.
Select Open Positions:
- Treasurer (Immediate Need) – Oversee PC Project’s finances, budget, and fiscal policies.
- Basic Science/Medicine/Genetics Expertise – Provide insight and guidance on clinical and research efforts.
- Nonprofit Organization Experience – Help strengthen our operational effectiveness.
Other Expertise Needed:
- Marketing and/or Fundraising Experience – Enhance awareness and outreach for PC Project.
- Pharmaceutical Industry Experience – Assist in navigating partnerships and advancements in treatment.
- Education Experience – Assist with development of targeted materials to help educate the PC community (ie, patients, caregivers, and healthcare professionals).
- General expertise or experience that will allow you to help further the mission of PC Project.
Get more details including the link to apply
If you live in Europe and are interested in serving on PC Project Europe’s Board, please apply through the same link and your application will be reviewed by that board.
Parenting Strategies for Raising PC Children
At the Portugal Patient Support Meeting in September 2024, we invited Claudia Avella, a mother of a spontaneous PCer from Spain, to share her thoughts on parenting a child with PC. We appreciated her ideas so much that we asked her to share them with our entire community, specifically for new parents who have just found out that their child has PC.
Claudia, who is also a child and adolescent psychiatrist, shared her expertise and insights, which are applicable to parenting children with all rare genetic skin diseases, through videos in both English and Spanish. Thank you, Claudia!
Watch the Parenting Strategies Videos in English or Spanish.
Educating Dermatology Nurses at DNA 2025 Conference
David and Janice Schwartz from PC Project spent two days, on March 5-6, at the Dermatology Nurse Association Conference in Orlando, exhibiting, sharing information, and teaching dermatology nurses about the rare skin diseases we represent and the patients we serve.
Our goal is – and always has been – to get our diseases recognized in doctors’ offices. At this event, we not only educated nurses, but also encouraged them (as well as dermatologists) to refer their patients to PC Project for an accurate diagnosis, especially if they have patients with painful palmoplantar keratoderma.
The nurses were extremely interested and engaged, and we don’t think a single attendee left without a brochure and knowing more about PC and PC Project’s programs and services!
Coalition of Skin Diseases Development Day
The Coalition of Skin Diseases is a powerful group of U.S.-based organizations, including PC Project, that represents the 84 million Americans who live with skin diseases, including PC and the other painful conditions with thick skin and painful calluses on the hands and feet.
PC Project gathered with CSD members in Orlando, Florida on March 9 for a strategic development day, to learn from each other, find ways to improve our organizations, and effectively advocate for our patient communities (and in PC Project’s case, our international community), and for skin diseases in general.
Read the Experiences Shared for Rare Disease Day!
Our goal for Rare Disease Day 2025 was to shine a spotlight on PC and the other rare skin diseases in our registry. However, we couldn’t have achieved that without your help. So many of you shared photos and told us what it’s like to live with a rare skin condition. We were – and still are – inspired by your experiences.
Read the details and see the submissions.
Also, in the weeks leading up to Rare Disease Day, on social media we highlighted some of the diseases in our registry that are not PC and started building out our webpages for them. We plan to feature them in our newsletter in the coming months. Many diseases look a lot like PC and without genetic testing, we cannot always tell the difference between them
If you are in our registry and have a condition that is NOT PC, you matter deeply to us, you are considered part of our PC Project community, and we want to know your story!
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