CACNA1A is a gene encoding the alpha-1 subunit of the CaV2.1 calcium channel. This channel allows calcium ions to enter the cell and helps facilitate muscle contraction and neurotransmitter release, among other functions. Mutations in the CACNA1A gene can impact cellular function and contribute to a variety of rare conditions, including episodic ataxia, epilepic encephalopathy, and others.
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 CACNA1A 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 CACNA1A mutations. Please contact us with interests and inquiries.