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Research & Innovation | Overview

At Boston Children's Hospital, our care is informed by our research, and our discoveries in the laboratory strengthen the care we provide at each child's bedside.

Our current research and clinical trials focus on the genetics of cardiomyopathy and the efficacy of specific medications as treatment.

Understanding family ties to hypertrophic cardiomyopathy

Working with colleagues at Brigham and Women’s Hospital, Boston Children’s researchers are examining common characteristics among families with a genetic predisposition toward cardiomyopathy. The team is leading a multi-center registry of children and adults who carry the gene for this type of cardiomyopathy, in hopes that studying their genetic makeup will help them identify the exact mutations influencing the onset of the disease.

Investigating gene regulation

Dr. William Pu's laboratory is studying the regulation of gene expression in heart development and heart failure. They are using conditional gene knockout and overexpression approaches to manipulate gene expression in mice and in primary cultured cells. Current projects include:

  •  mapping the transcriptional network regulating heart development
  • identifying the contribution of microRNAs to regulating heart development and heart function
  • understanding genetic contributions to congenital heart disease

Evaluating the effectiveness of medication in delaying hypertrophic cardiomyopathy

Researchers in Boston Children’s Department of Cardiology and at Brigham and Women’s Hospital are conducting medication trials for patients who carry the gene for hypertrophic cardiomyopathy, but whose echocardiograms are normal. The aim of the project is to develop new drug therapies capable of delaying the onset of symptoms.

Clinical trials for cardiomyopathy

There are many ongoing clinical trials and basic science research at Boston Children’s. You might be asked about having your child participate in a study about cardiomyopathy in children. If your physician recommends that your child participate in a clinical trial, you can feel confident that the plan detailed for that study represents the best and most innovative care available. Taking part in a clinical trial at Boston Children’s is entirely voluntary. Our team will be sure to fully address any questions you may have, and you may remove your child from the medical study at any time.

To find a Boston Children's Hospital clinical trial, visit and search for "Boston Children's Hospital" and your child's condition.