All May See launched a new challenge for February 2022, to raise awareness of Gould Syndrome, a rare disease. Gould Syndrome was named for Dr. Douglas Gould, Director and Vice Chair for Research for the Department of Ophthalmology.
The Foundation received a generous donation from an anonymous family in Texas with a 9-year-old boy recently diagnosed with Gould Syndrome. Our challenge is to match his donation of $125,000 prior to Rare Disease Day – February 28. The purpose of the funds is to better understand the mechanisms underlying Gould Syndrome caused by mutations in COL4A1 and COL4A2. Dr. Gould’s lab is exploring therapeutic avenues such as using CRISPR gene-editing technology, which may have promise to help individuals affected by Gould Syndrome.
Our goal is to make a total donation of at least $250,000 to the Gould Lab at the University of California, San Francisco (UCSF) Department of Ophthalmology.
Gifts received throughout the month of February will be doubled to support research into this rare disease. To support this challenge – make a gift now, and double your impact – (Note: Select – Designation, Other, type “Gould Syndrome”)
Match Disclaimer: All gifts up to $125,000 made before midnight on Rare Disease Day (Feb. 28, 2022) will be matched $1-for-$1 until the match limit of $125,000 is met. Match funds cannot be combined with pledge payments or other fund-raising efforts.
About Gould Syndrome
Gould Syndrome is a rare, genetic, multi-system disorder typically characterized by abnormal blood vessels in the brain, eye development defects and glaucoma, muscle disease, and kidney abnormalities; however, many other aspects of the syndrome continue to emerge and the full spectrum is still uncharacterized.2
The signs and symptoms, are highly variable and different organs are affected to different degrees between patients. The variability and severity of symptoms is so broad that the way an individual is affected can be novel and unique.2
In the brain, outcomes can range from hemorrhages before birth leading to cerebral cavities to mild age-related brain abnormalities that can only be observed on MRI.2 Approximately one-third of individuals have cataracts at birth or developmental defects of the front of the eye that can cause early onset glaucoma.
As genetic screening becomes more common, the number of individuals with Gould syndrome continues to climb all over the world. Because it is a rare disease, there is a disproportionate burden on families to understand the disease and chart the course for clinical care.
About the Gould Lab at UCSF
The Gould Lab’s broad scientific mission is to understand the biological functions of a specialized extracellular matrix structure called the Basement Membrane. Their primary focus is Gould Syndrome; a multi-system disorder that is caused by mutations in the genes encoding type IV collagen alpha 1 (COL4A1) and COL4A2. Step inside to learn more about what we are doing and the people that are making it all happen!3