TALK
"The long-ignored germline DNA is
making a comeback in diagnostics and prognostics for polygenic diseases"
By
Dr Sambasivarao Damaraju
Professor Department of Laboratory Medicine and Pathology Faculty of Medicine and Dentistry, University of Alberta
On
23rd March, 2018
12:00 Noon
At
Seminar Hall,
Uppal Campus |
ABSTRACT : Germline DNA (isolated from buffy coat) is used to screen for hereditary traits, mutations or linkage/association studies to identify disease loci. In the era of high throughput genomics, much of the oncology focus was on tumor transcriptomics (protein coding and non-coding RNAs), mutational landscapes to identify driver and passenger mutations for developing therapeutics or somatic level DNA aberrations (aCGH) to identify prognostic and predictive markers. The focus of my talk will be on genetic predisposition to cancer and prognostic markers from germline DNA. I demonstrate that CN-LOH documented from germline DNA can be excellent prognostic markers. Germline DNA level aberrations (copy gain or loss events) were investigated for their potential in conferring gene-dosage effects in somatic cells/tissue and what potential signaling pathways are affected by such aberrations. These findings have implications to develop prophylactic therapeutics for disease prevention. |