Supervisor of Genetic Screening
Molecular Genetics

viewCV

Area of Expertise and Primary Interest

  • Next-Generation Sequencing
  • Sanger Sequencing
  • Molecular Genetics
  • Mutational Analysis of Cardiac Disease
  • Molecular Biology
  • Genetics of Ion Channels
  • Population genetics
  • Bioinformatics

Graduated from Rensselaer Polytechnic Institute Class of 2003 with a BS in Bioinformatics and Molecular Biology and started at MMRL as a Research Assistant in the Molecular Genetics Program. Coordinated application for CLIA/CLEP approval as a clinical laboratory, which we received in 2006. Promoted to Supervisor of Genetic Screening in 2009. Led the Molecular Genetics team through the transition from traditional Sanger Sequencing to Next-Generation DNA sequencing in 2012.

Current Research

As a Researcher as well as the Supervisor of Genetic Screening for our Molecular Genetics Program, I perform genetic analysis of ion channel genes, as well as transcriptional factors, through the use of traditional (Sanger) and Next-Generation DNA Sequencing. Through collaborations with hospitals and cardiac physicians worldwide, we obtain samples from individuals and families affected with various cardiac diseases such as Early Repolarization Syndrome (ERS), Short QT (SQT), Long QT (LQT), Brugada Syndrome (BrS), Sudden Infant Death Syndrome (SIDS), and Sudden Unexpected Death Syndrome (SUDS).

The goal of this program is to identify the genetic variations that can produce various types of cardiac arrhythmias. Ion channels are responsible for the movement of ions like sodium (Na), potassium (K) and calcium (Ca) across the membrane of cardiac cells, and it is this flow of ions that is responsible for the electrical activity of the heart. Mutations in the genes coding for these ion channels can result in abnormal ion flow, and therefore cause various cardiac arrhythmias. These cardiac arrhythmias can cause a variety of symptoms or in some cases can prove fatal without the person ever having any symptoms.

Part of our research is also to search for possible gene-specific drug therapies to correct the various cardiac arrhythmias. Once we successfully identify a mutation in a patient, voltage clamp analysis can be performed on the mutated genes to determine the affect of the mutation on the ion channels activity. If the observed affects are consistent with the patient’s clinical phenotype, we can be confident that this mutation is causing the patient’s condition. It is also possible to add various drugs and observe their affects on these mutated channels

Additionally, once a mutation is identified in an affected individual, we can screen other family members for the variation, and often times alert them to their risk prior to the presenting of any symptoms so they can follow up with a cardiologist. This is critically important, since many of these diseases first present during midlife, and often with a life threatening event.

As our research evolves, new genes are constantly coming to light as possible causes of cardiac arrhythmia. A major part of my job is researching these genes, designing new experiments, and integrating them into our genetic screening processes.

With the introduction of Next-Generation sequencing, we have transitioned from a gene-by-gene screening approach to a gene-panel approach. We now utilize Ion Torrent Semiconductor Sequencing to screen a panel of the 87 most probable genes simultaneously, at a fraction of the time and cost it would take to do the same work on traditional platforms. Whole Exome Sequencing is planned in those cases in which we fail to identify a mutation in the 87 most likely gene candidates.