Human and Molecular Genetics Center


Michael Mitchell, MD

Associate Professor, Surgery
Division of Cardiothoracic Surgery
Specialization: Congenital Heart Disease


Mitchell Lab

Michael Mitchell, MD

The genetic and molecular etiology of congenital heart disease.  We are interested in identifying genetic risk factors for congenital heart disease.  We believe the ability to identify these genetic risk factors will allow us to investigate the relationship between genetic deficits and molecular pathways and clinical variability, in order to make early and accurate diagnosis.  The long-term goal for this research is to improve intervention strategies and long-term outcomes for our patients.  

Our laboratory’s major thematic areas:
  1. Development of the Congenital Heart Disease (CHD) Tissue Repository

    Although CHD is one of the leading causes of mortality in infants, the etiology of congenital heart disease is poorly understood. Data suggest that the disease is heterogeneous and complex, with both genetic and environmental risk factors. The congenital heart disease tissue repository represents a unique opportunity to investigate the etiology of CHD. We are seeking subjects willing to contribute blood and tissue (obtained as surgical discards) that are necessary for studies that can help in our understanding of CHD. These specimens will be used to look for genetic, genomic, and molecular changes in patients with CHD. 

    Specifically, we:

  • Look for genetic risk factors (i.e. mutations, single nucleotide polymorphisms SNPs, small and large chromosomal alterations) of CHD, including inherited as well as somatic events.

  • Look for differential gene expression or alternative splicing patterns in CHD patients.
  • Look for molecular changes in tissue from CHD patients, including epigenetic modifications (i.e. methylation patterns) and exogenous agents (i.e. evidence for infectious or chemical agents).
Our long term goals are to:
  • Investigate the relationship between genotype and clinical variability and outcomes.
  • Improve our understanding of the etiology of CHD with the hope of reducing risk for and improving management strategies for patients with CHD.
  1. Clinical outcomes in Congenital Heart Disease. We are interested in both identifying predictors of clinical outcomes in CHD, and understanding mechanisms of healing and plasticity following surgical repair.
  2.  Development of a non-invasive diagnostic test for fetal genetic and chromosomal abnormalities. An increasing number of fetal medical conditions can be successfully managed during the neonatal period if an early diagnosis is made. Because of the inadequate sensitivity and specificity of currently available non-invasive tools, amniocentesis and chorionic villus sampling (CVS), both invasive procedures, remain the standard for the definitive detection of fetal genetic and chromosomal abnormalities. Both of these procedures carry health risk for the developing fetus. We are developing a non-invasive approach using maternal serum to identify fetal genetic abnormalities. With its partner hospitals (Children’s Hospital of Wisconsin and Froedtert Hospital), the MCW is among a handful of centers in the world that are uniquely positioned to deliver the care and aggressively treat conditions diagnosed at the prenatal stage effectively, both through fetal and neonatal interventions.

Recent Publications