Transcriptomics for Personalized Medicine
While exome and genome sequencing are quickly finding their way into precision medical diagnosis of the causes of congenital abnormalities and tumor progression, applications of transcriptome profiling for personalized medicine are just beginning to emerge. I will discuss some theoretical aspects of how expression quantitative trait locus (eQTL), a burden of rare regulatory variants, and transcriptional risk score (TRS) analyses have the potential to improve on genome sequencing for molecular pathology, then present three case studies: longitudinal profiling of peripheral blood in immune disease, ileal biopsies to define high and low risk patients for Crohns Disease progression, and targeted RNASeq for discovery and/or validation of neuromuscular disease mechanisms.
About Dr. Gibson:
Greg Gibson is Professor and Director of the Center for Integrative Genomics at Georgia Tech in Atlanta. His group conducts systems genomics research, for the past 10 years focusing on human genomics, but also building on 15 years of quantitative genetic research in Drosophila. His primary interests are in the interaction between genotype and environment, the joint influences of these sources of variation on disease susceptibility, and the development of personalized disease risk profiles based on integration of genomic and clinical data. His group has active interests in inflammatory autoimmune disease, malaria, and the genomics of wellness. A native of Canberra, he completed his BSc at the University of Sydney and PhD at the University of Basel in Switzerland, before moving to the US. He served as section editor for natural variation at PLOS Genetics for 10 years, has authored two text books and a trade book “It Takes a Genome”, and maintains a monthly blog “genomestake.blogspot.com”.