We’re excited to share that the first-ever Clinical Guidelines for COL4A1 and COL4A2-related disorders , reflecting the latest research and expert consensus, have now been published!

To make this information easier to navigate and share, TGSF created Revised Clinical Recommendations for COL4A1 and COL4A2-related disorders —a summary of the full guidelines reviewed by Dr. Diana Tambala, MD (Musolino Lab) and Dr. Rachel Vassar, MD (Pediatric Vascular Neurologist) in October 2025.

This summary presents the recommendations in a clear and digestible way to help families and clinicians understand the suggested evaluations, monitoring, and care strategies. Both resources are meant to support—not replace—personalized decisions made with your healthcare team.

Consider sharing both the summary and the full publication with your medical team so everyone involved in your care has the most up-to-date information.

Help shape the conference—take the survey below!

We are pleased to announce The Gould Syndrome Foundation’s partnership with Associazione Famiglie COL4A1-A2 to host the 3rd Annual COL4A1-A2 International Conference on May 15-16, 2026. This is the first time the conference will be held in the United States

The conference will provide an invaluable opportunity for patients, families, researchers, and clinicians , including members of the Scientific and Medical Advisory Board, to meet, learn, and connect, and advance research.

Missed our August Community Meeting? The recording is available on our Conference page , where we discussed why this conference matters and its life-changing impact.

Be sure to check back for future updates on our website and on social media (or sign up for our newsletter here ).

Conference Survey

 

Conference planning has already begun, and community feedback is imperative. Please fill out our conference survey to learn more about what’s already in the works and provide input on conference topics , clinical visits with COL4A1/A2 experts , and volunteering opportunities . 

Note: If you are potentially interested in clinical visits for yourself and/or your child at Massachusetts General Hospital (MGH) while in town for the conference, please complete the survey as soon as possible to learn more and express your interest .

MGH must receive your records by December 2025 to allow proper coordination.

Fundraising Strategies

Our latest community meeting provided some conference updates and featured incredibly useful fundraising tips and examples. Community member Courtney Woods shared her experience with hosting highly successful annual fundraisers in honor of her son. Fundraising Committee Lead Beth Loell provided helpful fundraising guidelines and practical how-to’s so anyone can start fundraising. Check out our Conference page to watch the fundraising portion of the meeting and access fundraising documents (fundraising ideas, 1:1 fundraising, and a sample fundraiser timeline and budget) on our website.

Host a Fundraiser—Your Way

You don’t need experience to make a big impact! As we work to build multiple fundraising streams to support our mission, community-led events play a powerful role.

Whether it’s a walk, run, golf tournament, bake sale, art night, or something else you’re passionate about or love to do, we’d love to support your efforts.

If you’re interested in hosting a fundraiser—big or small—just reply to this email. We’ll guide you every step of the way and cheer you on. It means so much to us that you want to support our mission!

We’re excited to share a highly requested new initiative: a Community Provider Recommendations Map ! This community-driven resource will highlight clinicians who have provided care for patients in the COL4A1/A2 community worldwide. If you know of an excellent provider who has cared for you or your loved one with COL4A1/A2, please share your recommendations through our form. Your contributions will be compiled into an easy-to-digest map to help other community members looking for new providers.

*Please only recommend clinicians who have directly treated you or your loved one with COL4A1/A2. These are community recommendations, not Foundation-approved referrals. 

ERN Joint Webinar Recording - COL4A1/A2-related disorders: spreading awareness of the associated phenotypic spectrum

Associazione Famiglie COL4A1-A2 and ERN’s latest webinar recording is available here . The webinar discussed phenotypic and epileptic features of COL4A1/A2 along with how ophthalmologists can support the team. The speakers included Dr. Douglas Gould, Dr. Stéphanie Guey, Dr. Simona Balestrini, and Dr. Giacomo Bacci.

The Gould Syndrome Foundation
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www.gouldsyndromefoundation.org