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New Clinical Care Guidelines for Gould Syndrome
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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.
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Announcement: 3rd Annual COL4A1-A2 International Conference - Together, Advancing Research and Hope
May 15-16, 2026 — Boston, Massachusetts, USA
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Help shape the conference—take the survey below!
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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
).
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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.
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October 22nd Community Meeting Updates
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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.
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Host a Fundraiser—Your Way
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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!
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Patient-to-Patient Clinician Recommendations
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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.
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ERN Joint Webinar Recording - COL4A1/A2-related disorders: spreading awareness of the associated phenotypic spectrum
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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.
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