As part of the study known as CardiPS, much of the Frazer lab’s work aims at identifying links between observed cardiac phenotypes and the genotypes behind them. The cohort of 270 subjects studied includes individuals with cardiovascular diseases like long QT and left ventricular hypertrophy. The teams’s goal is to understand the genetics at work here: the variants in coding regions and in regulatory elements that influence the appearance of disease in the cardiovascular system, as well as adverse drug reactions.
Dr. Frazer’s research group also collaborates with Dr. John-Bjarne Hansen at the University of Tromso, analyzing a large cohort of patients who have been followed in the clinic for several decades. To get at the genetic roots of a condition called venous thrombosis embolism, they have sequenced thousands of subjects from the cohort.
Thanks to large research consortia, like The Cancer Genome Atlas, making their data available to the public, the Frazer Lab can use innovative bioinformatics and computational methods to pinpoint and understand how genetic traits—inherited or gained through somatic mutation—affect tumor formation and progression. Their ultimate goal will be to identify new drug targets for the treatment of different types of cancer.