Let’s Help Louis Raise Research Dollars for Gould Syndrome on his First Birthday!

April 30, 2024

In honor of Louis’ first birthday in May, his parents Blakely & Trent and big brother Archie are encouraging donations in his honor to the All May See Foundation.

Louis was diagnosed with congenital cataracts at birth, Closed Lip Schizencephaly, and consequently, COL4A1. Louis loves spending time with his big brother, playing with toys, eating any and all food, and stroller rides around the neighborhood. He says dada, mama, nana, and bye-bye as well as loves waving bye bye!”

About one-third of infants born with Gould Syndrome have cataracts at birth or developmental defects that can lead to early-onset glaucoma. The syndrome is named for UCSF geneticist Douglas Gould, PhD, in recognition of his discovery of and his lab’s work on this rare, multisystem disorder. It is caused by mutations in collagen genes COL4A1 and COL4A2.

Proceeds raised will support Dr. Douglas Gould’s vision research that makes a lasting difference in treatment of this rare disease.

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. 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.

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? (Lap for Landon, Louis’s Birthday, or donations in honor of friends and loved ones) – Please select ‘Gould Syndrome Research‘ as the Designation and enter the name of your honoree under ‘Tribute Gift‘.)