Genomenon Powers Groundbreaking Study on Genetic Drivers of Rare Liver Disorders

ANN ARBOR, Mich., June 17, 2025 /PRNewswire/ -- Genomenon, a leading genomic intelligence company, today announced its pivotal role in a newly published study in the Journal of Lipid Research that significantly advances scientific understanding and translational research for Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2), a rare pediatric liver disease. Genomenon co-authored the study along with Rectify Pharmaceuticals and DTR Labs.

The peer-reviewed paper, titled "An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant", introduces two powerful tools for advancing PFIC2 research:

1. A knockin mouse model carrying the common disease-causing E297G variant in the ABCB11 gene developed by Rectify, and
2. A comprehensive, evidence-based catalog of ABCB11 variants, built using Genomenon's Mastermind® Genomic Intelligence Platform.

Genomenon's proprietary AI technology enabled the rapid and systematic curation of more than 700 published ABCB11 variants from over 700 peer-reviewed articles. This variant data revealed 476 non-benign mutations—including 240 associated with PFIC2. This dataset, the most complete of its kind, enables more accurate diagnosis, improved variant interpretation, and supports drug discovery efforts aimed at correcting BSEP protein dysfunction.

"We're proud to support meaningful advances in rare disease research," said Mike Klein, CEO of Genomenon. "By indexing and curating the full breadth of the scientific literature on ABCB11, we reinforced the research team's ability to prioritize the most clinically relevant variant for modeling that ultimately demonstrated a treatment response that mirrors what's observed in patients. The study demonstrates the power of genomically-aware AI combined with expert scientific curation in translational science."

The study also showed that the Bsep^E297G knockin mouse faithfully recapitulates the early clinical and molecular features of PFIC2, including bile acid accumulation, impaired BSEP trafficking, and liver injury—while responding effectively to IBAT inhibition therapy, a growing class of drugs for cholestatic liver disease. These findings highlight the model's utility for preclinical drug development and precision medicine research.

To learn more, read the full publication in the Journal of Lipid Research: https://www.jlr.org/article/S0022-2275(25)00100-2/fulltext

About Genomenon

Genomenon is a leading genomic intelligence company transforming patient care by uncovering the genomic drivers of genetic disease and cancer. By combining the power of AI built on the world's premier genomic data set with genomic expertise, the company simplifies complex genetic data into actionable insights. Genomenon's integrated software, data, and services solutions empower clients with advanced patient diagnosis and precision medicine development.

SOURCE Genomenon