Urgent Update for FBXO31 Patients
Family Research Conference on April 11th
Contact: info@FBXO31Foundation.org
The FBXO31 Foundation was founded in response to the discovery of multiple patients identified with the same mutations in the FBXO31 gene with neuromotor symptoms resembling Cerebral Palsy. The patients identified to date carry the same variant in FBXO31 (p. Asp334Asn). This variant is currently classified as a Variant of Uncertain Significance, Likely Pathogenic. It has been linked in multiple research studies (cited below) to diagnoses of Cerebral Palsy. The FBXO31 Foundation was formed to provide a community support network for patients with FBXO31 disorder and their families. The FBXO31 Foundation is working to find treatments for FBXO31 related cerebral palsy by raising awareness and identifying new patients to include in our patient registry for future drug screening efforts. Research is currently underway at Washington University in St. Louis to determine how changes in the FBXO31 gene impact the function of the neurons in the brain, neurological development and functioning in animal models.
For patient resources and information about joining future research studies, patient registry and a patient and family research roundtable on April 11, 2024 please click here or email info@fbxo31foundation.org.