From the Research Director's Notebook August 2026

From the Research Director’s Notebook

It has been a busy summer for research at the Gorlin Syndrome Alliance, with several projects moving forward that reflect an important goal: turning the experiences and priorities of our community into meaningful research questions.

One area receiving particular attention is odontogenic keratocysts (OKCs). We’ve been analyzing patient survey and Natural History Study data to better understand the burden of OKCs and have begun conversations with oral and maxillofacial specialists about current treatment approaches and where additional research could improve care.

We’re also asking new questions about basal cell carcinomas (BCCs) in Gorlin syndrome. Are BCCs that develop in people with Gorlin syndrome biologically different from BCCs in the general population? Understanding potential differences in their immune environment, genetics, or behavior could ultimately help researchers identify better approaches to prevention and treatment.

At the same time, GSA continues to explore Centers of Excellence and coordinated specialty care, ways to better connect clinical and genetic data, and opportunities to bring more researchers into Gorlin syndrome research.

These projects are at different stages, but they share the same starting point: What are the biggest challenges facing people with Gorlin syndrome, and what research can we do to address them?

I look forward to sharing more as these efforts develop.

Nicole Doudican, PhD

There is exciting news from the cancer immunotherapy field: a personalized mRNA cancer vaccine for melanoma has succeeded in a large Phase 3 clinical trial when combined with immunotherapy.

The treatment, called intismeran autogene (V940), is a personalized mRNA-based cancer vaccine developed by Moderna and Merck. It uses genetic information from an individual patient’s tumor to teach the immune system to recognize and attack that cancer.

For the Gorlin syndrome community, this is worth watching with cautious enthusiasm. This is not a vaccine for basal cell carcinoma (BCC), and there is currently no evidence that it could prevent or treat the many routine BCCs experienced by people with Gorlin syndrome.

What makes this development particularly exciting is the platform itself. Its success in melanoma is another encouraging sign that researchers are making progress on the long-standing challenge of effectively training the immune system to recognize and fight cancer. If this approach proves successful across additional cancers, its potential applications could expand considerably.

Could that eventually include BCC? Potentially. People with Gorlin syndrome can develop a very high burden of BCCs, making new treatment approaches especially important. One possibility worth exploring is whether a similar strategy could someday be useful for advanced BCCs, particularly tumors that have become—or are likely to become—resistant to current treatments.

For the numerous smaller, more typical BCCs associated with Gorlin syndrome, how an individualized cancer vaccine could be practical or useful is much less clear.

So, this isn't a new treatment for Gorlin syndrome today. But it is an important proof of concept for a rapidly advancing technology—and one we'll be watching closely for its potential application to BCC.

Representing GSA at the FASEB Cilia & Centrosomes Conference and Ciliopathy Summit

Nicole Doudican represented the Genetic Support Alliance (GSA) at the FASEB Cilia & Centrosomes Conference and Ciliopathy Summit in Washington, D.C. The meeting brought together researchers, clinicians, genetic counselors, trainees, and patient advocacy organizations to share scientific discoveries and strengthen collaborations across the ciliopathy community.

Nicole gave a five-minute presentation introducing GSA and highlighting the organization's resources for researchers, clinicians, and patient advocacy groups. She also presented a poster showcasing GSA's programs, creating opportunities to connect with attendees and raise awareness of the support GSA provides to the rare disease community.

The Ciliopathy Summit welcomed approximately 50 participants for an afternoon of networking, scientific discussion, and relationship building. A highlight of the meeting was seeing trainees present their work, including an outstanding presentation by genetic counseling graduate student Dhriti Aiylam on phenotypic overlap.

The conference provided a valuable opportunity for GSA to build new partnerships, increase visibility within the research community, and continue supporting collaborations that advance ciliopathy research and improve patient care.