2024 Gould Syndrome Research Challenge Launching on Rare Disease Day (2/29)

February 7, 2024

We’re thrilled to announce a new challenge to raise $200,000 to support Gould Syndrome research, beginning on Rare Disease Day on February 29 and continuing until Gould Syndrome Awareness Day April 12, 2024. This disorder is named after University of California, San Francisco (UCSF) geneticist Dr. Douglas Gould, Director and Vice Chair for Research for the Department of Ophthalmology.

What is Gould Syndrome?
This is a rare, genetic, multi-system disorder characterized by abnormal blood vessels in the brain, eye development defects, glaucoma, muscle disease, and kidney abnormalities. The signs and symptoms vary widely, affecting various organs in different degrees, making each case unique. As genetic screening becomes more common, the number of individuals with Gould syndrome is on the rise globally. There are over 400 reported cases worldwide but the actual number is unknown and as genetic screening becomes more common, the number of individuals diagnosed with Gould syndrome will continue to rise. With cutting edge advancements in genetic medicine, treatments for affected individuals have never been closer.

Recent Achievements
Over the past two years, All May See has actively worked to raise awareness and essential research funds for Gould Syndrome. With the assistance of several individuals affected by this disorder we were able to raise over $200,000, including two large charity “Lap for Landon” walks organized by a family in Missouri and a major gift from another family in Texas.

The Work Your Gift Supports

Your donation will support the Gould Lab at UCSF which will build on their foundational studies into the mechanisms underlying Gould Syndrome caused by COL4A1 and COL4A2 mutations. Funds will enable testing of therapeutic avenues, that capitalize on the CRISPR gene-editing revolution, offering new hope for those affected.

Can we count on you to make a gift now? (Select – “Gould Syndrome Research/Lap for Landon” from the dropdown menu under designation.)

Save the Dates!

  • Rare Disease Day is February 29 to recognize that this is the rarest day of the year. Rare Disease Day is usually observed on February 28, but given that 2024 is a leap year, this year is extra special!
  • Gould Syndrome Awareness Day is April 12 to acknowledge that Gould Syndrome is caused by mutations in collagen 4 alpha 1 and alpha 2.

Resources

  1. Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations
  2. COL4A1/A2-Related Disorders
  3. UCSF Department of Ophthalmology – Gould Lab