Gould Syndrome Foundation
We are a registered 501 (c) 3 Nonprofit dedicated to providing hope and help to children and adults with the ultra-rare disease, Gould Syndrome; affecting COL4A1 and COL4A2 genes.
The Gould Syndrome Foundation provides hope and help for children and adults with Gould Syndrome, through:
Education: COL4A1/COL4A2 gene mutations description, symptoms and the sub-diagnosis.
Advocacy: Teaching families how to advocate for their loved ones and access medical information.
Connect: Doctors and researchers to patient global registry to bring research and medical therapeutic options to those affected.
We connect and coordinate our families with researchers and medical professionals to get our disease and management coordination into the medical realm.
What is Gould Syndrome?
Gould Syndrome is a rare, genetic, multi-system disorder. Gould Syndrome is often characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities continue to emerge and the full spectrum is still uncharacterized.
We have a library of research articles available for download.
The purpose of this registry is to document the experiences of Gould syndrome patients so that scientists can better understand the condition and develop effective treatments.