3rd Annual COL4A1-A2

International ConferencE

may 15-16, 2026 |boston, usa!

The 3rd International COL4A1/A2 Conference is almost here. Hosted by The Gould Syndrome Foundation in partnership with Associazione Famiglie COL4A1-A2, this marks the first time the conference has been held in the United States, bringing together families, affected individuals, clinicians, and researchers from around the world.

Medical conferences are critical catalysts for advancing research and treatment in the rare disease community. For COL4A1/A2 disorders specifically, these gatherings consolidate expertise, accelerate scientific progress, and establish partnerships between researchers, clinicians, pharmaceutical companies, and patient advocacy organizations. The community-building aspect of conferences is instrumental in maintaining momentum toward therapeutic breakthroughs.

Access the Conference Portal (In person Attendees only)
Virtual Session Agenda

STREAMING LINKS & AGENDA

Day 1: Friday, May 15 | Family Connect Day https://mgb-org.zoom.us/j/86993190489

Day 2: Saturday, May 16 | Research Presentation Day https://mgb-org.zoom.us/j/87890466355

All times are Eastern Daylight Time (EDT). Please refer to the agenda below for the virtual session schedule.

Clinicians and researchers may contact us for Roundtable and A2 Breakout link

LOCATION & AGENDA

3rd International COL4A1/A2 Conference All times Eastern Daylight Time (EDT)

Friday, May 15, 2026 | Family Connect Day

  • 9:00 - 9:15am Opening Remarks, Lacey Korstvedt & Brittney Davison, The Gould Syndrome Foundation

  • 9:15 - 9:30am An Introduction to Gould Syndrome (COL4A1/A2), Dr. Doug Gould, University of California San Francisco

  • 9:30 - 10:10am Mental Health for Caregivers, Blyth Lord, Courageous Parents Network

  • 10:10 - 10:50am Talking About Your Disease, Lydia Anderson, ACTA2 Alliance

  • 10:50 - 11:35am Childhood Behavioral Challenges, Dr. Joseph Ricciardi, May Institute

  • 11:35am - 12:05pm Living Without a Roadmap: A Disease Concept Model for Providers by Caregivers in the Gould Syndrome Community, Erica Schindewolf, Ambry Genetics and Lyndsey Hayes, Parent Advocate of GS Child

  • 1:15 - 1:45pm Expanded Clinical Care Considerations, Dr. Aaron Rothstein, University of Pennsylvania

  • 1:45 - 2:45pm Understanding Your Disease Panel, Dr. Patricia Musolino, Massachusetts General Hospital, with Dr. Rachel Vassar, UCSF Benioff Children's Hospital, Dr. Stephanie Guey, APHP, and Dr. Ana Cristancho, Children's Hospital of Philadelphia

  • 2:45 - 3:00pm Concluding Remarks

  • 3:15 - 5:00pm COL4A2 Working Session: State of the Research, Unmet Needs, and Future Directions *Open to clinicians/researchers interested in COL4A2

Saturday, May 16, 2026 | Research Presentation Day

  • 8:45 - 10:15am Session One: Disease Models

  • 10:30 - 11:00am Session One: Disease Models continues

  • 11:00am - 12:30pm Session Two: Genetic Tools / Translation

  • 1:30 - 2:30pm Session Three: Clinical

  • 2:45 - 4:15pm Session Four: Clinical (Adult)

  • 4:15pm Concluding Remarks

Sunday, May 17 (Morning) – Expert Roundtable

  • 9:00am - 12:00pm Roundtable Discussion *Invited clinicians and researchers only.

FAQ’s

  • May 15-16, 2026

  • Please visit this page to inquire about a travel stipend for your visit.

  • Yes!

  • Patients (pediatric and adult), caregivers, providers, and researchers. We plan on offering childcare to help make family participation possible.


  • Fill out the conference survey to provide input on presentation topics. You can also volunteer, make a donation, fundraise, attend the conference, share conference news on social media, and invite your treating physicians to learn more about COL4A1/A2, etc.

  • Past Conferences 

    If you would like to learn about the past two conferences that were hosted in Italy, here are some resources:

Support the Conference

Your generosity helps make gatherings like this possible. Every donation to the Gould Syndrome Foundation supports breakthrough research connections, specialist access, and the community that sustains families navigating this rare disease.

Donate now and double your impact: Check if your workplace provides donation matching to maximize your contribution.

Select members of our SMAB speak to the Importance of the conference

  • Doug Gould

    “It is impossible to overstate the value and importance of the international gatherings of clinicians, scientists, and patients that have been initiated by Simona, Francesca and the Associazione Famiglie COL4A1-A2. There are tangible benefits to all stakeholders of this community. Patients and families learn more about the disease, scientists share unpublished data and coordinate their efforts, and clinicians  open lines of communication on how best to manage their patients. These elements are important for any disease and you can see examples of disease-focused meetings everywhere you look. But it is even more critical for a rare disease where the community is small and scattered across the globe and for a newly discovered disease for which so much remains unknown. Continuing and growing these international exchanges will be vital to identifying future treatments. We need everyone pulling on the same rope in whatever capacity they can.”

  • Dr. Rachel Vassar

    "The opportunity to meet with patients, researchers, and clinicians from around the world is the single most important driver of forward progress in COL4A1/2-related disorders."