SLC2A1 is a gene encoding a protein known as solute carrier family 2, member 1, also called GLUT1. This protein allows the transport of glucose into and out of neurons, thereby modulating the availability of this energy source. Mutations in the SLC2A1 gene can impact cellular function and contribute to a variety of rare conditions, including GLUT1 Deficiency Syndrome and other types of epilepsy.
Pairnomix’s personalized genetic evaluation services are designed to identify clinically approved drugs that could be repurposed for the treatment of rare genetic conditions, such as those caused by SLC2A1 mutations.
Our services involve creating a laboratory model of an individual’s genetic mutation and performing experiments to understand the impact of that mutation on cellular function. We then test more than 1,300 drugs against the modeled mutation for their abilities to reverse the mutation’s functional consequence. As a result, we can identify drugs that may have the potential to provide effective treatment. We provide our findings to the individual’s physician so together they can make better-informed treatment decisions. Click here to learn more about our services.
We are pleased to offer these services for eligible pathogenic SLC2A1 mutations. Please contact us with interests and inquiries.