Personalizing Dilated Cardiomyopathy

Collaborators: Euan Ashley, Ron Davis, Utkan Demirci, Lars Steinmetz

Background

Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is a serious medical condition that affects approximately 1 in every 250 people.

In DCM, the heart muscle dilates but cannot contract normally, making it difficult to efficiently pump blood. It is one of the main causes of heart failure and the leading reason for heart transplantations. The disease can stay dormant for years until it aggressively breaks out and is usually terminal. Currently, diagnosis and management of DCM relies entirely on in-hospital medical procedures including echocardiography, heart biopsies and genetic testing.

Drs. Davis, Demirci, and Steinmetz are collaborating to establish new tools to diagnose and monitor diseases. They are testing the ability of different technologies to reliably detect molecular biomarkers in complex human specimens, including in blood, urine and saliva. Their goal is to produce rapid, reliable and cost-effective devices that will not only improve patient care, but are suitable for use by healthcare providers at the point of care.

Project

Identification of diagnostic and prognostic markers for RBM20-deficient Dilated Cardiomyopathy

There is clear evidence that a gene called RBM20 plays a key role in familial DCM. RBM20 encodes a protein that helps process (or “splice”) RNA molecules in the heart. Mutations in this gene are responsible for approximately 3-5% of all cases of DCM.

Building on their joint expertise in genomics, technology development, and engineering, Drs. Davis, Demirci, Ashley and Steinmetz aim to develop cheap, cost-effective, and label-free nanoelectronic devices that detect putative DCM biomarkers from patient samples in real-time. As Director of the Stanford Center for Inherited Cardiovascular disease, Dr. Ashley  provides a direct connection to patient’s suffering from DCM. Using patient samples provided by Dr. Ashley’s lab, members of the Steinmetz lab are using different full-length RNA sequencing techniques to identify promising DCM biomarkers. In parallel, technology developed in Dr. Demirci's lab is being used to search for protein and RNA biomarkers in exosomes. Meanwhile, members of the Stanford Genome Technology Center (directed by Dr. Davis and Steinmetz) are using a biosensor platform developed to quantify sequence-specific nucleic acid hybridization and detect specific biomarkers from patient samples.

By combining their complementary strengths and expertise, these three labs hope to quickly progress their project towards clinical applications. In addition, they expect the resulting platform technology to be applicable to many other diseases that are similarly unaddressed in the current clinical landscape.

Find out more:

Are you interested in technology development for disease diagnosis and prognosis? Would you like to help us in the fight against heart disease?  Get in touch! We would love to hear from you.

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This work is sponsored by the Steinmetz Cardiomyopathy Fund. 

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