PD501 GENIE Test

GENIE stands for Gene Expression by Nanostring: Inflammation Explained. It measures gene expression in mRNA.

GENIE is a blood test that is a research only assay of mRNA in white blood cells, reporting on up or down regulation of key genes. The blood draw is non-fasting and must be drawn between 9-11am. Results can be expected within 30 days. Two tubes are drawn as patients with profound hypometabolism typically produce lower amounts of RNA and sometimes this low amount drops below the minimum amount to run the assay effectively.

The most important question that GENIE will answer is whether or not the lab results show hypometabolism. We look for suppression of ribosomal genes (found in (i) large and (ii) small subunits) in treatment-naïve patients to show such hypometabolism. Similarly, mitochondrial genes that are encoded in the nucleus (Note: of the over 1000 mitochondrial genes only 37 are located in mitochondria; the rest are in our nuclear DNA and thereby subject to regulation of nuclear DNA transcription). The mitochondrial genes that we look at include (i) electron transport genes; (ii) inner and outer membrane protein transport genes; and (iii) ATP synthase genes. We also look at ribosomes inside mitochondria called mitoribosomes, both as the (iv) large and (v) small subunits.