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GSA Funded Research Projects

2025

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“Gorlin Syndrome Beyond PTCH1 and SUFU: Leave No Patients Undiagnosed”

 

Barbara Rivera, PhD,  Principal Investigator and Miguel Servet Fellow at the Rare Tumors Lab – Hereditary Cancer Programme with the Bellvitge Biomedical Research Institute (IDIBELL). 

Dr. Rivera's proposal, “Gorlin Syndrome Beyond PTCH1 and SUFU: Leave No Patients Undiagnosed,” will pursue discovery of factors contributing to a clinical diagnosis of Gorlin syndrome in cases where the known genetic mutations are not present.

2025: “Gorlin Syndrome Beyond PTCH1 and SUFU: Leave No Patients Undiagnosed”

May 2025
 


 

“Defining the BCC microenvironment change in response to smoothened inhibition: Identification of a role for addition of checkpoint inhibitor to optimize antitumor therapy for overwhelming disease.”

The Gorlin Syndrome Alliance (GSA) is proud to announce that the winner of the 2024 GSA Research Grant is Dr. John Carucci. The title of his proposal is “Defining the BCC microenvironment change in response to smoothened inhibition: Identification of a role for addition of checkpoint inhibitor to optimize antitumor therapy for overwhelming disease”. This year, the GSA received more than double the number of research proposal applications than in its inaugural year, 2023. They were all competitive and worthy of funding. The GSA is grateful to everyone involved for their interest in
making a positive impact on the quality and quantity of individuals living with Gorlin syndrome. We look forward to 2025 when more proposals for research will be sought.

Congratulations, Dr. Carucci.

2023: “Clinical Practice Guidelines for the Management of Basal Cell Carcinoma in Gorlin Syndrome.”

First Ever
Gorlin Syndrome
Research Grant Award!

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The GSA launched its research grant program early this year with the goal of providing financial support for impactful research into Gorlin syndrome and its manifestations. On Friday, June 23,2023, Executive Director, Julie Breneiser presented the award certificate to Dr. Brian Cahn for his and Dr. Murad Alam’s work. With a panel of over 125 disease experts in dermatology and other specialties as well as affected individuals and parents, they are working to develop and publish, “Clinical Practice Guidelines for the Management of Basal Cell Carcinoma in Gorlin Syndrome”.

The GSA is proud to support this important work. Thank you Drs Alam and Cahn!

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