If you or your loved one are living with a rare disease, you may have experienced challenges understanding your genetic mutation. At Pairnomix, we generate new scientific insights with our research services.
About Our Services
If your condition is thought to be genetic, using genetic sequencing to identify the mutation responsible for your condition can be helpful. But sequencing alone doesn’t provide information on the normal cellular processes that are disrupted by your mutation, nor does it provide information on which drugs modify these disrupted cellular processes.
Pairnomix offers research services which can be ordered by your physician to fill these knowledge gaps. Working from your genetic sequencing report (provided to Pairnomix by you and your physician), we will create a laboratory model of your specific genetic mutation and perform experiments to understand the impact of your mutation on cellular function. We will then test more than 1,300 approved drugs against the modeled mutation for their abilities to reverse the mutation’s functional consequence. We will provide your physician with informational reports that summarize our findings so your physician can consider these insights.
When Pairnomix Is Right For You
Pairnomix has provided these research services for individuals with epilepsy and other rare neurological disorders who carry mutations in select genes. Click here to learn about some of our prior work. If you are interested in having these services performed for your specific mutation, our services may be a good fit for you if:
- You have already received genetic testing that revealed a genetic cause for your rare condition
- You want to learn more about the functional consequences of your genetic mutation and how drugs might affect these consequences in a laboratory model
We offer our research services at a cost that is determined by the type of scientific research needed for a particular genetic mutation. If you’re wondering if Pairnomix is the next step for you or your loved one, please don’t hesitate to connect with us. A member of our team would be happy to speak with you about the process, cost, and answer any questions you might have.