SUMMARY
Michael J. Ackerman, M.D., Ph.D., studies genomics and genotype-phenotype relationships in heritable cardiovascular diseases predisposing to sudden death.
In the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Dr. Ackerman and his colleagues have research interests that include genomics, mutational analysis and novel gene discovery related to the cardiac channelopathies such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and sudden unexplained death, including sudden infant death syndrome (SIDS), and inherited sarcomere diseases such as hypertrophic cardiomyopathy.
In addition, as director of the Long QT Syndrome Clinic, Dr. Ackerman has active clinical and translational research efforts devoted to identifying individuals at greatest risk of sudden death. These projects include autonomic nervous system studies and overnight sleep studies.
Focus areas
Current studies include:
- Genotype-phenotype correlations and novel gene discovery in congenital long QT syndrome
- Mutational analysis in catecholaminergic polymorphic ventricular tachycardia
- Genotype-phenotype correlations and novel gene discovery in hypertrophic cardiomyopathy
- Drownings as a genetic disorder
- Cardiac channelopathies in SIDS
- Molecular autopsy of sudden unexplained death in the young
- Catecholamine provocation testing in the evaluation of congenital long QT syndrome
- Sleep and neural circulatory control in long QT syndrome
Significance to patient care
Over the past 12 years, the Windland Smith Rice Sudden Death Genomics Laboratory has discovered more than 12 sudden-death-predisposing, channelopathy/cardiomyopathy-susceptibility genes. These genes are now included in commercially available genetic tests for long QT syndrome, hypertrophic cardiomyopathy and/or postmortem sudden death test panels.
Currently, Dr. Ackerman's program is searching to discover the genetic causes for the rest of these syndromes that are currently gene test negative. In addition, they have developed novel markers for risk stratification and novel treatment strategies, including videoscopic left cardiac sympathethic denervation surgery, for these diseases.
Collectively, the program is improving the diagnostic (discovering new disease genes), prognostic (identifying who is at greatest risk) and therapeutic approaches to these diseases. In essence, the research is enabling true personalized/individualized medicine for patients and families with genetic heart rhythm and genetic heart muscle diseases.