As the last week of 2025 draws to a close, we are reflecting on what we have accomplished together. In a year when there have been big changes to how research and science are funded, it is more important than ever that the GSA represent the Gorlin syndrome community and invest in promising research.
Together, in 2025 we saw some long simmering work finally mature, tackled meaningful new projects and invested in research with an eye towards our future. We hope to build on this momentum in 2026, and ask that you make your best gift today to support our ability to grow impact for our community in 2026.
If everyone in our community were able to give $25 before the year ends, we could fund TWO new research grants in 2026. Every gift has a significant impact for our small community.
Please make your donation by New Year’s Eve to support our work in 2026!
The GSA is one of ten organizations selected to be part of a three-year collaboration with Stanford University and the Shah Lab to harness AI and electronic health records for earlier detection of rare diseases. We envision that this work will accelerate diagnosis and improve care.
This project was made possible through GSA’s longstanding relationship with Dr. Joyce Teng, Co-Principal Investigator of the GSAPR Natural History Study and Dr. Kavita Sarin, who are both supporting this ongoing work.
The 2025 GSA Research Grant was awarded to Barbara Rivera, PhD, Principal Investigator and Miguel Servet Fellow at the Rare Tumors Lab – Hereditary Cancer Programme with the Bellvitge Biomedical Research Institute (IDIBELL). We are proud to have award our first international grant, as part of our effect to expand our global network of researchers and collaborators.
Dr. Rivera's proposal, “Gorlin Syndrome Beyond PTCH1 and SUFU: Leave No Patients Undiagnosed,” received the highest scores from both our Medical and Scientific Advisory Committee (MSAC) and our first-ever Community Grant Review Committee. Her research will pursue discovery of factors contributing to a clinical diagnosis of Gorlin syndrome in cases where the known genetic mutations are not present.
Our first research grant was awarded to Dr. Brian Cahn and Dr. Murad Alam for their work to draft the first clinical care guidelines for management of the Gorlin syndrome community’s most persistent symptom, basal cell carcinoma. Through advocacy and partnership with the authors, we were able to secure open access to this publication for our community.
Dr. Brian Cahn’s presentation on the Guidelines
Open access link to the text
There is increasing interest in developing better treatments for basal cell carcinomas in Gorlin syndrome and sporadic BCCs (those in people who do not have GS). The GSA is fostering new relationships with pharmaceutical companies such as Medicus and Rinascera, planning to continue those with Sol-Gel, Sun Pharma, Inhibitor, and building pathways to partnership with other companies that share our desire to find better treatments for basal cell carcinomas.
This project is the richest source of patient-reported data on Gorlin syndrome, globally. It is the most powerful tool we have for advancing what is known about GS, and provides the data researchers need to better understand the way it affects people over their lifetime. Volunteers who participate give an invaluable gift to our entire community, for which we can never thank them enough. In 2025, we saw:
To participate, learn more here.
More than 100 of you at our 2025 conference in Orlando.
Photos here
The GSA was invited to share our stories with the Pediatric Dermatology Research Alliance podcast. Parents will recognize elements in Taylor’s story, and appreciate the careful consideration that pediatric dermatologist, Dr. Elena Hawryluk, gives our smallest Gorlin syndrome patients.
Together, we are making tomorrow brighter for everyone who lives with Gorlin syndrome.
We look forward to building forward with you in 2026.