Research

JTB Foundation-based Research

The JTB Foundation is proud to support Dr. Andrew Landstrom, a pediatric cardiology and genetic scientist at Duke University School of Medicine.   Dr. Landstrom specializes in caring for children and young adults with genetic diseases of the heart, including cardiac channelopathies and cardiomyopathies.  He leads a basic science laboratory exploring the causes of sudden cardiac arrest-predisposing diseases with a goal of identifying children who are at-risk and developing new therapies to treat the underlying disease.

With funding from the JTB Foundation, Dr. Landstrom is working with colleagues to determine a cause of arrhythmic cardiomyopathy (AC) resulting from mutations in the gene DSP.  DSP mutations cause development of fat in the normal heart muscle, something that is common among patients with AC, which results in arrhythmias and heart failure.  In addition, DPS mutations tend to cause inflammation and can often lead to myocarditis.  Myocarditis, also known as inflammatory cardiomyopathy, is an inflammation of the heart muscle that is not often seen other forms of AC. Myocarditis is typically caused by a viral infection and has been seen at higher rates in hospitalized patients with COVID 19. 

The near-term aim of Dr. Landstrom’s study is to determine whether mutations in DSP lead to AC development that is worsened by inflammation, suggesting that inflammation fuels AC progression.  To test this, he will use induced pluripotent stem cell-derived cardiac myocytes following genome editing to create a DSP mutation that is associated with inflammatory AC in a family.  He will then test whether inflammatory triggers worsen the development of AC features in these cells.  Dr. Landstrom’s work is designed to provide valuable insight into how inflammation impacts AC development in patients with DSP mutations. This research will increase understanding not only of a particular genetic cardiac disease, but it will also shed important light on why some patients with inflammation of the heart develop heart failure. 

Ground Breaking Scientific Results in HCM

Ground Breaking Scientific Results in HCM

Researchers in hypertrophic cardiomyopathy (HCM) have achieved two ground-breaking results within the past year or so. The Foundation tracks these and other breakthroughs as part of its research mission.

Late last summer scientists were successful for the first time in editing genes in dozens of human embryos to repair a common and serious disease-causing mutation. The mutation that was successfully repaired by researchers at Oregon Health and Science University, with colleagues in California, China and South Korea, is one of those that causes HCM.

This research was a major milestone in human genetic engineering, and, while a long way from clinical use, holds out the promise that one day gene editing may be able to protect against hereditary conditions and diseases such as HCM.

In recent work published this past June, researchers at Stanford developed an innovative technique for assessing the risk of mutations associated with HCM, but of unknown significance. Such mutations, called VUS (variants of unknown significance), are commonly identified in genetic testing and may be harmful or benign.
Stanford scientists created a novel platform leveraging CRISPR (clustered interspaced short palindromic repeats) – Cas9 genome editing and pluripotent stem cells to elucidate both benign and pathological phenotypes in a dish. This new methodology provides a VUS risk assessment tool that contributes significantly to the field of precision medicine

Past Updates

2021 Research Update
2020 Research Update
2019 Research Update
2018 Research Update
2017 Research Update
2016 Research Update
2014 Research Update
2013 Research Update
2012 Research Update
2011 Research Update

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