Summaries of research studies that were made possible by analysis of the data in the SHaRe registry.
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
A better understanding of the factors that contribute to heterogeneous outcomes and lifetime disease burden in hypertrophic cardiomyopathy (HCM) is critically needed to improve patient management and outcomes. The Sarcomeric Human Cardiomyopathy Registry (SHaRe) was established to provide the scale of data required to address these issues, aggregating longitudinal datasets curated by eight international HCM specialty centers. Read More
Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation
Genetic testing for cardiovascular diseases like Hypertrophic Cardiomyopathy (HCM) has become common practice. However, genetic testing can only help patients and families with HCM if genetic test results interpreted accurately. Sometimes genetic test results can be challenging to interpret and experts disagree on the interpretation. This study looked at how different HCM experts interpret genetic tests. Read more.
Want to read the full study text? Find it here. Watch Colleen Caleshu, one of the study's primary investigators and Dr. Victoria Parikh talk about the study below.
Mulitdimensional structure-function relationships in human B-cardiac myosin from population-scale genetic variations.
In this study researchers looked at whether the genetic changes in the heart myosin that cause HCM tend to occur more often in certain areas of the molecule. In addition, the researchers looked at how different genetic changes contribute to differences in disease onset and disease outcomes of patients with Hypertrophic cardiomyopathy. Read more
Want to read the full study text? Find it here.
Video with Euan Ashley, MD and Julian Homburger, Primary investigators on above study. In this study researchers looked at whether the genetic changes in the heart myosin that cause HCM tend to occur more often in certain areas of the molecule.
Sponsored by MyoKardia, Inc.