International COL4A1/A2 Conference Brings Global Gould Syndrome Community Together in Boston

The global Gould syndrome community gathered in Boston on May 15–16, 2026, for the Third Annual International COL4A1/A2 Conference, marking the first time the international meeting was hosted in the United States. Organized by the Gould Syndrome Foundation in partnership with Associazione Famiglie COL4A1-A2, the conference brought together patients, caregivers, clinicians, researchers, and advocates from around the world to advance collaboration and accelerate progress in Gould syndrome research and care.

Held in Boston following the first two conferences in Rome, the 2026 gathering welcomed approximately 120 in-person attendees, along with dozens more participating virtually. The two-day event reflected the growing momentum surrounding COL4A1 and COL4A2-related disorders and the increasing strength of the international rare disease community.

The opening day, Family Connect Day, focused on patient and caregiver experiences, clinical education, and community support. Sessions addressed topics including mental health for caregivers, childhood behavioral challenges, clinical care considerations, and navigating life with a rare disease diagnosis.

The second day centered on scientific and clinical research, featuring presentations on disease models, genetic tools, translational research, and adult clinical care. The meeting also included expert roundtable discussions designed to foster collaboration among international clinicians and scientists working to better understand and treat COL4A1/A2 disorders.

Representing the UCSF were Douglas B. Gould, PhD (Department of Ophthalmology) and Rachel Vassar, MD (Department of Neurology), both of whom participated in the conference programming. Dr. Gould delivered an introductory session on Gould syndrome and has played a leading role in advancing research and international collaboration in the field. Dr. Vassar participated in clinical discussions focused on improving patient care and expanding understanding of the disease spectrum.

The conference builds on growing international momentum highlighted earlier this year during Rare Disease Day 2026. In a February update published by the All May See Foundation, Dr. Gould reflected on the rapid progress being made through global partnerships, research expansion, and community engagement. The update also noted a recent generous donation from a family enabled the launch of a new collaboration to begin work on a novel COL4A2 line of investigation. This pledge of $150,000 toward early-stage Gould syndrome research supporting both COL4A1 and COL4A2-related disorders.

One of the major outcomes of these international meetings has been the formation of a growing network of clinicians and researchers sharing best practices and clinical insights across specialties and institutions. These collaborations are helping establish stronger clinical guidance, improve natural history understanding, and advance future therapeutic development for this rare disease community.

Dr. Gould emphasized the importance of international collaboration in remarks shared by the Gould Syndrome Foundation:

“It is impossible to overstate the value and importance of the international gatherings of clinicians, scientists, and patients. These meetings accelerate research collaborations, improve clinical care, and create a sense of community and hope for families living with Gould syndrome.”

As awareness and research continue to grow, conferences like this serve as a critical platform for connecting families with experts, strengthening scientific partnerships, and accelerating the search for future treatments for Gould syndrome.

Pictured above: Doug Gould, PhD, The Woods Family: Courtney, Brian and Landon.

Event photos below: