Research focuses on the discovery of novel genes and respective physiology contributing to cardiac arrhythmia syndromes or cardiomyopathies associated with sudden cardiac death, as well as the common arrhythmia condition of atrial fibrillation. Our program is highly translational from bedside to cell, beginning with the recruitment of patients and families for DNA analysis, bioinformatic analysis, and studying of the physiological effects of mutant genes/proteins in in vitro and animal models.
Keywords: genetics, inherited arrhythmias, sudden death, bioinformatics, whole exome, atrial fibrillation.
Numerous Nationally and Internationally
We use whole exome or genome sequencing in families or case cohorts identified through our genetics clinic, standard bioinfomatic techniques, cloning and site-directed mutagenesis, in vitro and ex vivo patch clamp recordings, and knock-in mouse models to study disease physiology.
Sara Bober, MSc (PhD candidate)
Arnon Adler, M.D. (Clinical Research Fellowship)
Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W, Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin SR, Stainier DY, Gollob MH. Whole exome sequencing identifies a novel mutation in the MYL4 gene as a cause of autosomal dominant familial atrial fibrillation. Nat Comm 2016 Apr 12;17:11303.
Gollob MH. Towards translation of genomic discovery to clinical efficacy in atrial fibrillation. J Am Coll Cardiol 2016; 68:1895-1897.