Early Genetic Testing Predicts Heart Disease and Novel Therapies for Women with Lupus

Nov 7, 2022 | Archives, Cardiology Archives, Products Archives


Charlottesville, Va., Nov. 4, 2022 /PRNewswire/ — AMPEL BioSolutions today announced a genetic precision medicine test for lupus patients that could save lives by predicting heart disease before it happens and providing decision support for prophylactic therapies. Shared genes that predispose both to lupus and cardiovascular disease are revealed in the peer-reviewed journal Cell Reports Medicine. AMPEL’s breakthrough approach characterizes inherited genetic markers in blood samples that drive pathways that can be targeted by drugs. The CardioGENE® lab test, only a concept for the last few years, is now ready for development for practical use as a decision support biomarker test.

AMPEL’s innovative approach linking genetic predisposition to molecular pathways targeted by drugs may greatly impact health care by allowing physicians to identify cardiovascular disease risk following lupus diagnosis and select appropriate prophylactic treatments. According to the Johns Hopkins Lupus Center, female lupus patients aged 35-44 are 50-times more likely to have a fatal cardiovascular event than other women in their age group. One-third of all lupus deaths are due to unrecognized coronary artery disease leading to heart attacks and strokes.

This innovation marks AMPEL’s expansion into genetic testing as a second platform technology in addition to the work it already conducts in the field of RNA analytics and machine learning. By identifying the DNA-driven pathways, CardioGENE® will allow health care professionals to prevent serious cardiovascular events with prophylactic targeted treatment. This is the first time cardiovascular genetic risk factors that result in strokes and heart attacks have been identified in immune and inflammatory system genes even when a patient does not smoke, have elevated cholesterol or high blood pressure. Importantly, FDA-approved drugs that target inflammatory cytokines such as IL6 as well as immune cells are candidates for prophylactic therapy.

“CardioGENE® marks a diversification of AMPEL’s portfolio into genetic testing, and we are extremely excited to share our results,” said Dr. Amrie Grammer, AMPEL Co-Founder, President and Chief Scientific Officer. “We are confident that CardioGENE® will make a difference in the lives of lupus patients, especially young women who disproportionately suffer from the disease’s cardiovascular impacts.”

“Accelerated and prevalent atherosclerotic cardiovascular disease in patients with Lupus is not explained by traditional risk factors and has been attributed by my research group as well as other groups to relate to undefined variables associated with the emergence of Lupus,” said Dr. Jane Salmon, Co-Director Mary Kirkland Ctr for Lupus Research, Collette Kean Research Chair and Professor of Medicine at HSS and Cornell Weill, “For the first time, AMPEL’s elegant work elucidates the genetic risk factors shared between patients with coronary artery disease and those with Lupus, providing a new opportunity to consider novel therapeutic approaches to prevent and treat atherosclerotic CVD in patients with Lupus.”

“This research not only contributes to our understanding of the genetic basis of the increased frequency of cardiovascular events in patients living with lupus, but also provides practical information on new molecular pathways contributing to atherosclerotic cardiovascular disease,” said Dr. Peter Lipsky, AMPEL Co-Founder, CEO and Chief Medical Officer. “We believe this work will usher in new approaches to ameliorate one of the leading causes of death in lupus patients.”

“By leveraging the growing knowledge of lupus and cardiovascular disease genetics, this novel Mendelian randomization study provides new insights into the biological pathways and causal relationship between these two intertwined diseases. Ultimately, this information may lead to a deeper understanding of the relationship between these conditions, informing clinician care,” said Dr. Carl Langefeld, Professor of Biostatistics and Data Science, Wake Forest School of Medicine. 

CardioGENE® emerged from AMPEL’s collaboration with Wake Forest and was funded by a DoD Impact Award, awarded in 2020 as one of six applications funded from a pool of 115 applicants.  Dr. Langefeld is a statistical geneticist and has co-authored three peer-reviewed publications investigating the genetic basis of Lupus.

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