CHRNB2 is a gene encoding the beta 2 subunit of the nicotinic acetylcholine receptor. Upon activation of this receptor by the neurotransmitter acetylcholine, the associated ion channel opens and allows sodium and calcium ions to enter the cell and potassium ions to exit. This exchange of ions helps to facilitate the transmission of electrical signals between cells. Mutations in the CHRNB2 gene can impact cellular function and contribute to a variety of rare conditions, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) 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 CHRNB2 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 CHRNB2 mutations. Please contact us with interests and inquiries.