Megan Roy-Puckelwartz is an Assistant Professor of Pharmacology at Northwestern University. She has a keen interest in the role genetic variation plays in the etiology of human disease. Advances in sequencing technology now allow for determination of entire human genomes in a reasonable time frame, at a tractable cost. This new technology poses both great promise and a number of challenges to the research community. These challenges include both computational and analysis bottlenecks.
Dr. Puckelwartz and her team have adapted workflows that harnessed the computational size and speed of a Cray supercomputer housed at Argonne National Laboratories to accelerate genomic alignment and variant calling. They have also developed workflows to use computational tools to pare down variant lists generated by genome sequencing. Typically, genome sequencing produces ~4-5 million variants per subject and these variants must be parsed in order to identify disease-causing or contributory variation. The decommissioning of the Cray supercomputer at Argonne provides an opportunity to pursue other computing platforms. They continue to develop new methods to more accurately identify variants that play a role in disease and to share these methods and insights with the genomics community. Designing these workflows and attempting to identify primary mutations in subjects with disease has made her acutely aware of the complex interplay between both rare and common variation and the environment. Her group continues to develop new methods to more accurately identify variants that play a role in disease, especially cardiovascular phenotypes.
In 2018 she was awarded the American Heart Association Career development award to continue her work in understanding the role of genetic variation in heart failure. She is also the lead genomicist for two NIH-sponsored projects; Channelopathies and Cardiomyopathies Among Sudden Deaths in the Young and the Cardiomyopathy Genomes Project, and for the American Heart Association Sudden Death in the Young Strategically Focused Research Network. Her goal for these projects is to identify cardiomyopathy and/or arrhythmia variants using bioinformatics and detailed phenotyping.