Huggins Laboratory
The overarching goal of the lab is to identify genes associated with human heart disease. We believe firmly in the benefit of making primary discoveries advancing understanding of human disease whenever possible, in humans. Within the past two decades, the human genome sequence has been completed and a map of genetic markers suitable for studying disease associations has been established. Both candidate gene and genome-wide association studies are performed in the Huggins laboratory with a focus on valve disease and genetic cardiomyopathy.
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Current projects include:
Analysis of cardiomyopathy

A particular focus for our laboratory is the identification of genetic contributors to Cardiomyopathy, including both Hypertrophic and Dilated. Recently, we are exploring the use of novel genetic approaches for the comprehensive identification of rare and common coding variants associated with heart muscle disease. These large-scale genetic screens are supported by an active collection of DNA and serum samples from patients of the Tufts Medical Center Cardiovascular Center and through participation in collaborative studies including the Dilated Cardiomyopathy Precision Medicine Study.

Causative factors of heart muscle disease include environmental insults such as ischemia/infarction, high blood pressure, toxins, drug exposure and atypical genetic changes. The Huggins laboratory is analyzing how a member of the formin family of genes contributes to heart muscle disease including hypertrophic cardiomyopathy (Figure 1).

MCRI Huggins HCM
Figure 1. Genome-wide association analysis identifying a locus in FHOD3 as being associated with hypertrophic cardiomyopathy.

 

This highly conserved gene is required for normal heart function in flies as measured by optical coherence tomography (Figure 2).

MCRI Huggins HCM 2
Figure 2. Fly heart contractile function is reduced in flies that have knockdown of fhos, (the fly homologue of FHOD3 (right), compared with control flies.
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Lab members
  • Sarah Powers, Research Associate
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Gordon Huggins, MD