Four-year National Institutes of Health Grant to Focus on Cardiomyopathy Research

 SAN DIEGO – Sept. 27, 2019 – The National Institutes of Health has awarded Rady Children’s Institute for Genomic Medicine (RCIGM) a four year, $3,049,054 grant to investigate how genetic interactions may influence cardiomyopathy (CM), a devastating heart disease that affects millions in the United States, with about 200,000 new cases diagnosed annually.

“Our research seeks to better understand how multiple genes work together to increase the severity and risk of getting cardiomyopathy, which will impact more than one in every 500 people during their lifetimes,” said Matthew Bainbridge, principal investigator and associate director of clinical genomics at RCIGM. “Gaining a better understanding of the genetic mechanisms that influence cardiomyopathy will help medical professionals give better treatments and advice to patients.”

Currently, genetic diagnoses of CM often fail to predict severity or incidence of heart failure, significantly increasing the likelihood of death in CM patients. This is driven, in part, by poor understanding of genetic interactions in CM.  RCIGM researchers will test the hypothesis that multiple genetic mutations can lead to a more severe presentation of CM and investigate whether variants that are seemingly benign may actually cause more severe disease in combination with known mutations, with the ultimate goal of improving the ability to predict how the disease will manifest in CM patients based on their unique genetic information.

The research will also provide critically needed data to help generate computational models to predict inheritance of traits that are influenced by more than one gene (polygenic) and build infrastructure to conduct large scale tests for polygenic inheritance in CM.

Research will involve using data from existing cohorts of CM patients, both from Rady Children’s Hospital-San Diego and public databases.  Additionally, RCIGM will whole genome sequence 40 Rady Children’s CM patients in order to identify the best candidates to be tested against combinations of seemingly benign gene variants and those known to cause disease.  Finally, the three best candidates will be assessed in a mouse model.

“Unlike other conditions with clear causes, cardiomyopathy is complicated, with over-lapping genetic causes that can result in a widely different course of disease,” said Bainbridge. “While some CM patients can effectively manage their condition with medications, others may develop heart failure necessitating heart transplant.  With a better understanding of how genes work together, we can more effectively determine a patient’s prognosis.”

The NIH grant will distributed over a four year period with an average annual payment of approximately $762,000.

“The leading edge research underway at Rady Children’s Institute for Genomic Medicine is focused on revealing the causes for genetic disease, and offering insight into disease-specific interventions to help guide care,” said Stephen Kingsmore, MD, DSc, President and CEO of RCIGM. “This innovative approach to understanding the role genes play in cardiomyopathy could lead to better treatments and better quality of life for patients. And that’s what RCIGM is all about.”

Research reported in this news release was supported by the National Heart, Lung And Blood Institute of the National Institutes of Health under Award Number R01HL145175. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.