A Roadmap for the Future: Introducing the GSA 2026 Research Roadmap

For the first time in our organization's history, the Gorlin Syndrome Alliance has published a comprehensive Research Roadmap that defines where we believe the greatest opportunities exist to reduce the burden of Gorlin syndrome and move meaningfully toward a cure.

This roadmap is more than a strategic plan. It is a framework for how GSA will prioritize its investments, build partnerships, guide scientific collaborations, and evaluate new opportunities in the years ahead. It reflects our belief that lasting progress happens when patients, clinicians, researchers, industry, and advocacy organizations work toward shared goals.

How We Developed the Roadmap

The roadmap was not written in isolation.

It was developed through a patient-centered, evidence-informed process that incorporated input from patients, caregivers, clinicians, researchers, industry representatives, and rare disease experts. Community interviews, patient surveys, scientific discussions, and a review of the current research landscape all helped shape the final document. Throughout the process, one question remained at the center of our work:

What actions can most effectively reduce the burden of Gorlin syndrome today while advancing prevention, interception, and future curative strategies?

One important outcome of this process was recognizing that progress toward a cure should not be viewed as a single future event. Instead, every step that delays disease onset, prevents new tumors or cysts, reduces surgeries, improves quality of life, or lessens the lifelong burden of disease represents meaningful progress.

Three Strategic Focus Areas

The roadmap organizes GSA's work around three interconnected priorities.

1. Building the Research & Care Ecosystem

Great science requires strong infrastructure.

This focus area prioritizes expanding the GSA Natural History Study, supporting multidisciplinary Centers of Excellence, advancing clinical practice guidelines, strengthening global collaboration, and creating the research infrastructure needed to support future therapeutic development.

2. Accelerating Therapeutic Development

Patients have told us repeatedly that reducing the lifelong burden of repeated surgeries remains one of their highest priorities.

This focus area supports research aimed at preventing disease manifestations before they occur, improving treatment options, strengthening clinical trial readiness, funding innovative research, and helping move promising therapies closer to patients.

3. Advancing Precision Medicine

Not everyone experiences Gorlin syndrome the same way.

Understanding why disease severity varies among individuals may help identify better prevention strategies, improve clinical trial design, and support more personalized approaches to care. This focus area emphasizes integrating genetic information with longitudinal clinical data collected through the GSA Natural History Study to better understand disease variability and accelerate therapeutic development.

Looking Ahead

The publication of this roadmap is not the end of a planning process. It marks the beginning of a new chapter for the Gorlin Syndrome Alliance.

As new discoveries emerge and the needs of our community evolve, the roadmap will continue to guide how we invest our resources, build collaborations, and pursue opportunities that have the greatest potential to improve the lives of people living with Gorlin syndrome.

Together, we believe that meaningful progress is possible.