The Association for Creatine Deficiencies has been awarded a $450,000 grant to combat a trio of disorders that can cause intellectual delays.
The Carlsbad nonprofit was among 30 rare disease organizations that received funding from the Chan Zuckerberg Initiative, started by Facebook founder Mark Zuckerberg and his spouse, Dr. Priscilla Chan.
The grant will build out the nonprofit’s infrastructure and support research into cerebral creatine deficiency syndromes.
Creatine helps supply energy to cells. The association wants to ensure disorders stemming from a lack of creatine are diagnosed at birth, followed by prompt treatment.
It’s focused on guanidinoacetate methyltransferase deficiency, arginine:glycine amidinotransferase and creatine transporter deficiency. A treatment hasn’t been approved for the latter, which can trigger seizures, language delay and other symptoms.
The Chan Zuckerberg Initiative targets rare diseases under the banner of the Rare as One Project. Its philanthropic mission also includes education and criminal justice reform.