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SUMMARY:“Why Determining Pathogenicity in the Age of Precision Medicine\
 , will Require More than Analyzing Genomic Sequences” - Dr Bruce Gottlie
 b\, Lady Davis Institute for Medical Research\, Segal Cancer Centre\, Jewi
 sh General Hospital\, Department of Human Genetics\, Department of Medicin
 e\, McGill University\, Montreal\, Canada
DTSTART:20160315T120000Z
DTEND:20160315T130000Z
UID:TALK64516@talks.cam.ac.uk
CONTACT:Mala Jayasundera
DESCRIPTION:*Abstract*:\nIt is becoming increasingly clear that the associ
 ation between mutations and disease phenotypes in many instances are likel
 y to be more complex than originally thought. For example\, in a number of
  cases of classic single locus specific diseases\, individuals lacking mut
 ations in putative disease-associated genes have the disease phenotype\, w
 hile individuals with specific mutations proven to be associated with the 
 disease phenotype are perfectly normal. Further\, we now know that many fa
 ctors besides specific alterations to the genome can determine the product
  produced by a gene. At the present time our efforts have been limited to 
 identifying a few of these possible genome-modifying factors\, such as epi
 genetic processes\, while other factors such protein-protein interactions\
 , and the effect of tissue microenvironment have as received limited atten
 tion. \n\nIn the case of multifactorial diseases\, such as cancer\, the si
 tuation has become further confused as hundreds of genes have been identif
 ied as disease-associated\, even though they may make very small contribut
 ions as individual genes to the cancer phenotype. An additional complicati
 on is that somatic genetic changes have been identified in putative cancer
 -associated genes not just in tumors but in normal tissues as well. Recent
 ly\, the discovery within tumors of genetic heterogeneity has further adde
 d to the complexity of the genotype-phenotype relationship.\n\nTraditional
 ly\, in our attempts to determine pathogenicity\, we have assumed that our
  basic understanding of the relationship between genotype and phenotype is
  one of cause and effect\, and that causes of pathogenicity need to be fou
 nd within our understanding that specific mutations in particular genes wi
 ll produce a specific disease phenotype. However\, this talk will challeng
 e some of these assumptions in order to explore some of the fundamental ge
 netic issues raised by the above observations and how they might be incorp
 orated into methodologies to determine not just pathogenicity in the age o
 f precision medicine\, but in the case of cancer a better understanding of
  the relationship between genetics\, treatment and cure. 
LOCATION:CRUK CI Lecture Theatre
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