North Carolina State University and TruDiagnostic have taken the next step in their investigation into the human imprintome with an exclusive license agreement to any diagnostic techniques utilizing imprintome control regions.

For most genes, we inherit two working copies from our parents. But with imprinted genes, we inherit only one working copy. Depending on the gene, either the copy from our mother or father is epigenetically silenced.

This monoallelic expression is controlled by parental-specific epigenetic marks, which are established in gametogenesis and early embryonic development and are persistent in all somatic cells throughout life. These regions of the genome are called imprint control regions (ICRs).

The imprintome is critical for development and growth and plays a major role in our risk of developing diseases and disorders, such as obesity, Alzheimer’s disease, autism, bipolar disorder, and schizophrenia. Nevertheless, exploration into how these imprintome marks translate into disease risk has been limited because the complete repertoire of ICRs in the human genome—the human imprintome—had not been identified. This changed when researchers from NC State published the full list of 1,488 hemi-methylated candidate ICRs in July 2022. This represents the first time in history that these imprint regulatory regions of the genome were fully identified in humans.

“The identification of the human imprintome will allow scientists to determine—simply by sampling DNA from the blood or other accessible tissues—the role imprinted genes epigenetically altered by environmental exposures play in the formation of all diseases and behavioral disorders,” says scientist Randy Jirtle, PhD, one of the authors on this publication. He believes this represents a major step forward in the ability to predict disease risk.

With the full list of human ICRs identified, researchers from TruDiagnostic and NC State University collaborated to create a custom methylation infinium microarray that can examine the entirety of the human imprintome. This month, TruDiagnostic signed an exclusive license agreement to use and develop this microarray in further imprintome research.

TruDiagnostic is now working with researchers worldwide to generate epigenetic health data using this new tool.

“We encourage anyone working on methylation diagnostics to consider using this Human Imprintome Array,” added Annie Prestrud, MPH, TruDiagnotic’s grant and research director.