Genetics Core

The ultimate goal of the MMRL’s Molecular Genetics Core is to identify the factors that are responsible for diseases. This knowledge will facilitate the development of gene-specific therapies and cures for arrhythmias and identify individuals at risk for sudden cardiac deaths.

As researchers discover the role genes play in disease, there will be more genetic tests available to help doctors make diagnoses and pinpoint the cause of the disease. For example, heart disease can be caused either by a mutation in certain genes, or by environmental factors such as diet or exercise to name a few.

Physicians can easily diagnose a person with heart disease once they present symptoms. However, physicians can not easily identify the cause of the heart disease is in each person. Thus, most patients receive the same treatment regardless of underlying cause of the disease.

In the future, a panel of genetic tests for heart disease might reveal the specific genetic factors that are involved in a given person. People with a specific mutation may be able to receive treatment that is directed to that mutation, thereby treating the cause of the disease, rather than just the symptoms.

Our facility includes:

  • Applied Biosystems 3730 DNA analyzer
  • Ion Torrent PGM
  • Ion Torrent Proton
  • Ion Torrent Ion Chef
  • Agilent 2100 Bioanalyzer
  • Applied Biosystems Quant Studio 6 qPCR (96 and 384 well)
  • Nanostring GeoMx

For questions and request for service inquires, please contact core manager Ryan Pfeifer (pfeifferr(at)mmri.edu, 315-624-7485).