Genosity to Investigate Genetics of Cardiac Amyloidosis

NEW YORK--()--Genosity Inc. announced today that it has partnered with Columbia University Irving Medical Center to investigate genetic factors associated with wild-type cardiac amyloidosis, a type of heart failure caused by the buildup of amyloid protein.

A hereditary form of the condition, called transthyretin-related (TTR) amyloidosis, is caused by mutations in the gene that makes the protein transthyretin.

In the study, Genosity will perform whole exome sequencing on samples from cardiac amyloidosis patients who did not have disease-causing mutations in TTR when tested with standard genetic tests. The sequencing data will be analyzed by Genosity to identify other genes and pathways that may be associated with the disease.

Mathew Maurer, MD, principal investigator of the study and the Arnold and Arlene Goldstein Professor of Cardiology at Columbia University Vagelos College of Physicians and Surgeons, said, “Wild-type transthyretin amyloidosis is the most common form of cardiac amyloidosis. But why some patients develop this condition as they age remains an enigma. We’re hoping that previously unexplored regions of the genome can elucidate the mechanism.”

Marc Grodman MD, Co-Founder and CEO of Genosity, stated: “Whole exome sequencing of phenotypically well-characterized patients who have had negative genetic testing for specific genes or gene panels can be an incredibly helpful source of investigation, discovery, and potentially new therapeutic targets. This is an outstanding example of how genomics, when properly used, may advance our understanding.”

Columbia University Irving Medical Center has been at the forefront of research to improve the diagnosis and treatment of patients with rare disorders like transthyretin-related cardiac amyloidosis. Columbia University was the first site to enroll patients in Pfizer’s clinical trial of Tafamidis, which received FDA approval in May 2019 for the treatment of TTR amyloid cardiomyopathy.

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Mathew S. Maurer, MD, is also the Director of the Clinical Cardiovascular Research Laboratory for the Elderly at NewYork-Presbyterian/Columbia University Irving Medical Center.

About Genosity: Genosity is a life science biotechnology company that employs its expertise, novel software solutions and laboratory services for both somatic and germline applications to enable its strategic partners to fully realize the value of precision medicine for both the research and clinical markets. For more information, please visit us at


Harpreet Gill


Harpreet Gill