The Gould Syndrome Foundation

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The Gould Syndrome Foundation

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The Gould Syndrome Foundation provides this information for the benefit of the community. If you identify as younger than 13, your post will be removed.

The Gould Syndrome Foundation is dedicated to empowering and improving the lives of individuals and their families affected by COL4A1/A2 gene mutations through awareness, advocacy, education, and supporting research. The Gould Syndrome Foundation is dedicated to empowering and improving the lives of affected individuals and their families through awareness, advocacy, education, and supporting research. The Gould Syndrome Foundation is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. The Gould Syndrome Foundation is a 501 (c)(3) non-profit recognized by the IRS. The Gould Syndrome Foundation encourages users to participate on this page, however advises users do not share private health information, including but not limited to one's full name(s), address, phone number, email address, or private health information. This is a public Facebook group page and all posts are visible to the general public. Facebook requires that users must be 13 years of age or older to participate on this page. All posts that contain offensive remarks, profanity, spam or illegal content are not allowed and will be removed. We reserve the right to remove any post that is deemed unintelligible or unnecessary. We also reserve the right to remove or block a user's access to post on our page.

10/07/2026

You asked, we listened! Our new worldwide patient-to-patient clinician recommendation map is now live and ready to help families in our community find healthcare providers who have experience caring for patients with COL4A1/A2-related conditions.

Have an excellent clinician you'd like to recommend? Please fill out our Clinician Recommendation Map form and we'll add them to the map.

Please note: These are community recommendations and are not Foundation-approved referrals. Please only recommend clinicians who have directly treated you or your loved one for a COL4A1/A2-related condition.

Together, we can help families connect with providers who have firsthand experience with our community.

Map: https://www.gouldsyndromefoundation.org/provider-map

08/19/2026

🧬 New publication via the COALA Leukodystrophy Center in Pediatric Neurology.

The Expanding Phenotypic Spectrum of COL4A1- and COL4A2-Related Disorders: A Systematic Review. Led by Eleonora Bonaventura, who designed and conducted the study and drove it through to publication.

WHAT THEY DID
Harmonized genetically confirmed cases published to date into one descriptive framework: pediatric vs adult presentations, onset, chronic evolution, triggers of acute events, rare features.

WHAT IT MEANS
Suspect broadly. Image early. Follow over time. Counsel families for a condition that keeps unfolding well beyond the first years of life.
(Key findings → see figure)

'Thanks to the co-authors Daria Marelli, Umberto Carugo, Davide Politano, Luigina Spaccini, Cecilia Parazzini, Simona Orcesi — and above all to the patients, the families, and Associazione Famiglie COL4A1-A2 APS'

View the full article here: https://www.sciencedirect.com/science/authShare/S0887899426002109/20260727T195300Z/1?md5=503b7f197bb31c0004d14622bf658577&dgcid=coauthor&__cf_chl_rt_tk=NHt7uty88OB19Q35t5E91CMjEuBzwcHHc9gRyv9mwR0-1787161014-1.0.1.1-Fo7uxwtVOdlnWXEjzCwBhmb6comAhm_U.PnlVidHDXw

08/04/2026

A common question among our community, and understandably so. Dr. Gould's lab is exploring gene-editing technology as a potential therapeutic avenue for COL4A1/A2 mutations. While no cures or treatments are currently available, UCSF Benioff Children's Hospital has launched a Gould Syndrome Center of Excellence to advance research and provide integrated subspecialty care for families navigating this rare disease.

07/29/2026

Meet this week's community spotlight - Flora!

If you'd like to share your child or yourself to be featured, please visit our "Warriors" page under the Community tab on our website. When we share our stories, we raise awareness, inspire others, and build the understanding our community needs.

07/21/2026

A new COL4A1/A2 diagnosis can feel overwhelming. If you or someone you love was recently diagnosed with Gould Syndrome, we want you to know: you are not alone, and there is a path forward.

Swipe through for steps to help you and your medical team get informed, connect with specialists, and find community.

Our website is the best starting point for you and your care team. Link in bio.

07/16/2026

This is what community looks like. A hand on the shoulder, a shared understanding, a reminder that no one has to face a Gould Syndrome diagnosis alone.

This Disability Pride Month, we're celebrating the connections that make this community what it is. Moments like this happen because families found each other through our foundation.

Help us keep making these connections possible. Donate today, link in bio.

07/14/2026

The research is advancing. The community is growing. And none of it happens without your support. If the Conference stirred something in you, consider making a gift to The Gould Syndrome Foundation. Every dollar funds the resources, researchers, and gatherings that bring this community together. Link in bio.

07/09/2026

Know an excellent clinician who has cared for you or your loved one with COL4A1/A2? We want to hear about them! The Gould Syndrome Foundation is gathering patient-to-patient clinician recommendations to help families in our community find trusted healthcare providers. Share your top doctors and specialists through this link: https://forms.gle/sfoP26UDrSYqXRMT6

Your contributions will be compiled into an easy-to-digest map to help other community members who are either newly navigating this diagnosis or are in a new location!

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

07/07/2026

For every family who packed their bags, booked their flights, and made the journey to Boston, and for every one who joined us from their living room, your presence made this weekend what it was. This community shows up in every way it can and that never stops moving us. This weekend was for you. It always will be.

07/06/2026

Disability Pride Month is about visibility. For the Gould Syndrome community, that starts with naming a condition most people have never heard of. Every family navigating this diagnosis deserves access to research, resources, and community.

Your donation helps make that possible. Give today by texting 'GIVE4GS' to 50155 or visit the link in bio.

Address

Boston, MA

Website

http://www.gouldsyndromefoundation.org/

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