Our research focuses on understanding the causes of sudden cardiac death in children and their families
We have active research projects centered around identifying new genes that cause heritable arrhythmias and may present with unexplained sudden death – specifically, long and short QT syndromes. Partnering with families who have inherited disease, but a negative clinical genetic test, we conduct expansive exome or genome sequencing to identify potentially new mutations which may explain their diseases. We utilize patient-derived stem cells and genetically engineered mouse models to determine the electrical changes these identified mutations may produce in the heart with an eye towards correcting these abnormalities with existing, or new, therapies.
We have active research projects focused on identifying new genes that cause early childhood-onset, cardiomyopathy. Partnering with families who have inherited diseases such as early heart failure or arrhythmia cardiomyopathy, but a negative clinical genetic test, we conduct expansive exome or genome sequencing to identify potentially new mutations. We then utilize patient-derived stem cells and genetically engineered mouse models to determine the molecular and cellular changes these identified mutations may produce in the heart with a goal of correcting these abnormalities with existing, or new, therapies.
Unexplained Sudden Deaths
The sudden cardiac death of an otherwise healthy child can devastate families and entire communities. These deaths often represent the fringe of clinical medicine where routine cardiac evaluations can be completely normal. Answers to diagnosis, risk stratification, and individualized life-saving interventions require functional genomics, cardiovascular physiology, biophysics, and molecular physiology. When these tools are leveraged in an inter-disciplinary fashion, we believe they hold the promise to diagnosing and treating some of the most challenging cardiovascular diseases of our time. Sudden deaths such as these including diseases such as SIDS (sudden infant death syndrome) sudden unexplained death syndrome, and sudden arrhythmic death syndrome.
We have on-going research projects with collaborators across Duke, medical examiners/pathologists, and the state of North Carolina to identify what role the heart may be playing in these tragic unexplained deaths. We also coordinate these efforts with our clinic to ensure that other family members who are left behind following the death undergo a thorough risk evaluation to determine whether they too may be at risk.
Malformations of the Heart
Structural abnormalities of the heart are one of the most common birth defects and impact about 1% of the population. These abnormalities can take many forms, such as chambers of the heart not forming correctly (like hypoplastic left heart syndrome or tricuspid atresia), valves of the heart not forming correctly or leaking, holes in the heart (like atrial or ventricular septal defects), alterations in the position or orientation of the major blood vessels, and many other abnormalities. While these abnormalities are relatively common, some of these diseases are likely to run in families, putting a family at risk of having other children with a malformation of the heart.
We have research projects exploring how malformations of the hearts can be passed in families, yet there is no clear genetic reason that has been identified for many families. We utilize expansive whole exome and whole genome genetic sequencing to identify these markers of heart disease risk and to explore the mechanisms of disease development and potentially prevention.