Chapman Lab

Current Research

- Creatine transporter deficiency syndrome affects at least 1 million people, resulting in X-linked intellectual disability and autism spectrum disorders. Lacking comprehensive genetic testing, this number is likely grossly underestimated, especially in females, who have milder symptoms due to their second X-chromosome and random X-inactivation. SLC6A8 codes for the Creatine transporter, without which Creatine cannot pass the blood-brain barrier, nor enter neuronal cells, thus hindering ATP metabolic activity in the brain. Patients with SLC6A8 mutations do not respond to treatment with oral Creatine supplements and there are currenlty no available treatments. Using the zebrafish as a model we are testing a new class of Creatine analogs for their ability to cross the blood-brain barrier and enter neuronal cells, thereby rescuing the phenotype.