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Update from Douglas B. Gould, PhD
Between Rare Disease Day (February 28) and Gould Syndrome Awareness Day (April 12), our goal is to raise at least $150,000 to expand our research team and accelerate new directions exploring gene therapy for Gould syndrome.
Philanthropy has never been more important.
Federal funding challenges have significantly impacted biomedical research nationwide, and our laboratory has not been immune. Funding shortages leave us with reduced staff and unable to quickly launch important new studies. Together, this means we are not advancing as quickly or as broadly as we would like. While we are deeply grateful for NIH awards from the National Institute of Neurological Disorders and Stroke (NINDS) and the National Eye Institute (NEI), philanthropic support is increasingly essential to sustain momentum and pursue innovative ideas.
Patient Story & Match Challenge Call to Action
A recent generous donation from a family enabled us to launch a new collaboration immediately and begin work on a novel COL4A2 line of investigation. Without that gift, this project would have remained a promising idea without funding to begin. This is the direct impact of grassroots giving. Every dollar truly helps. A message from the family:
We are a family with two young children impacted by COL4A2 and we’re working to help accelerate research and awareness for this underrepresented area of Gould syndrome. We aim to elevate the visibility of COL4A2 research – both for families seeking answers and for scientists who may be well positioned to expand existing COL4A1 work to include COL4A2. By strengthening understanding of both mutations, we improve the field’s ability to identify meaningful treatments for Gould syndrome.
In partnership with Dr. Gould and his collaborators, we have started funding early-stage research that addresses both COL4A2 and COL4A1. We have pledged $150,000 towards this effort. We invite the Gould syndrome community and supporters of rare disease research to match this effort and help grow the resources available for COL4A2-related research. We hope this call to action encourages families, friends, and advocates to come together to advance the research that will make future breakthroughs possible.
Donations may be made through the All May See Foundation, a 501(c)(3) public charity, and the official fundraising organization for the UCSF Department of Ophthalmology. Under “Designation,” “Dr Douglas B. Gould’s Research” should be selected. One hundred percent of funds go directly to Dr. Gould’s laboratory. Donations are tax-deductible, and international donors who encounter issues may contact us for assistance.
A Growing Global Community
I continue to be inspired by the Gould syndrome community. To date, I have met with more than 200 families worldwide, including 26 new families this past year, an average of more than two per month. Each meeting is invaluable. Interacting directly with families allows us to better understand what matters most to you. Your experiences help guide us to our priorities and keep us focused on doing our best work.
Strengthening Clinical Understanding
The year began with another highly successful international meeting hosted by Associazione Famiglie COL4A1-A2 in Rome in February 2025. One important outcome of these meetings has been the formation of an international group of clinicians from multiple subspecialties who share best practices and clinical experience.
These discussions culminated in a consensus report that strengthens clinical guidance. Together with recent reviews published in 2024, 2022, and 2020, there is now a growing foundation for understanding Gould syndrome. Families are encouraged to share these publications with their care teams.
Talks from the Rome meetings, including my presentation and an interview with Lacey Korstvedt, are archived on YouTube and serve as helpful educational resources. Here you can find my talk from the first meeting and here you can find an interview that I did with Lacey Korstvedt that can serve as a primer.
Building on this momentum, the Gould Syndrome Foundation will host the 3rd Annual Conference in Boston on May 15–16, 2026. This meeting will continue the progress started in Rome and further engage the North American community.
Research Progress and Publications
Our research continues to advance on multiple fronts.
I recently co-authored a review focused on research progress that examines similarities and differences between Gould syndrome, caused by pathogenic variants in COL4A1 and COL4A2, and Alport syndrome, caused by pathogenic variants in COL4A3, COL4A4, and COL4A5. Studying these related collagen disorders side by side provides valuable insight into shared mechanisms and potential therapeutic strategies. You can find that review here.
My laboratory also published a manuscript introducing a new research tool that we developed to measure critical biological parameters with an eye toward enabling genetic therapies. Foundational tools such as these are essential to translating discovery into treatment.
We continue to pursue a three-part research strategy:
In addition to our awarded NIH grants, we currently have three additional grants under review and a fourth project planned for submission this summer.
How Families Can Help
Many families ask what they can do to support progress. There are several meaningful ways to engage.
Participate in Natural History Studies
Despite progress, our understanding of the full clinical spectrum and natural history of Gould syndrome remains limited. Participation in natural history studies by sharing medical records for systematic review helps clinicians better understand patterns and long-term outcomes.
Studies are currently led by:
There is power in numbers. The more families who participate, the more we will learn.
Get Involved in Advocacy and Community Efforts
The Gould Syndrome Foundation and Associazione Famiglie COL4A1-A2 are doing meaningful and impactful work, and additional chapters are forming. Everyone’s experiences bring unique value to the community, and you can contribute in your own way.
Organize Fundraisers & Lend Your Voice
Grassroots fundraising efforts can be transformative. Bake sales, walk-a-thons, birthday fundraisers, donations in lieu of gifts, and employer matching programs all make a difference.
The Woods family’s annual “Lap for Landon” fundraiser has raised approximately $70,000 for research, with additional support from Take Part Foundation. Their sustained commitment demonstrates the extraordinary impact families can have.
In 2024, in honor of Louis’ first birthday in May, his parents Blakely & Trent and big brother Archie encouraged donations in his honor.
In 2022 All May See Foundation received a generous donation of $125,000 from an anonymous family in Texas with a 9-year-old boy recently diagnosed with Gould Syndrome and issued a match challenge.
If 200 families raised an average of $5,000 each, $1,000,000 could be generated annually to support Gould syndrome research. Even a handful of annual fundraisers would have a meaningful and lasting impact.
As Rare Disease Day approaches, I offer my sincere appreciation for your engagement and partnership. Through science, collaboration, and philanthropy, we are accelerating progress toward understanding and treating Gould syndrome.