Could You Help Advance Gorlin Syndrome Research?

Do you have signs of Gorlin syndrome, but genetic testing has not identified a clear genetic cause?

You may be eligible to participate in a GSA-supported research study with collaborators in Spain, Brazil, and Canada.

The study, “Gorlin Syndrome Beyond PTCH1 and SUFU: Leave No Patients Undiagnosed,” is led by Bárbara Rivera Polo, PhD, at the Bellvitge Biomedical Research Institute (IDIBELL) in Barcelona, Spain, with collaborators at the Catalan Institute of Oncology (Spain), McGill University (Canada), and A.C. Camargo Cancer Center (Brazil).

The researchers are investigating why some people with clinical features of Gorlin syndrome do not have an identifiable genetic cause through standard testing. They will use advanced genomic technologies to look for genetic changes that routine testing may miss—including low-level mosaicism, changes affecting gene splicing, structural variants, and potentially new genes associated with Gorlin syndrome.

Who may be eligible?

The research team is particularly interested in people who:

• Have clinical features consistent with Gorlin syndrome; and
• Have previously had genetic testing that did not provide a conclusive molecular diagnosis.

Additional eligibility criteria apply, and the research team will determine whether an individual qualifies for the study.

Interested in participating?

If you live in Spain, Brazil, or Canada and think you may qualify, we encourage you to contact the research team to learn more.

Bárbara Rivera Polo, PhD
Rare TumorS Lab, Hereditary Cancer Group
IDIBELL–ICO, Barcelona, Spain
Email: brivera@idibell.cat

The goal of this research is simple but important: to better understand the genetic causes underlying Gorlin syndrome so that fewer patients are left without a molecular diagnosis.