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SUMMARY:Common and rare variants in the sequence of the human genome that 
 affect the risk of cancers  and other diseases of man - Kari Stefansson\, 
 deCODE Genetics\, Iceland
DTSTART:20120517T120000Z
DTEND:20120517T130000Z
UID:TALK32825@talks.cam.ac.uk
CONTACT:Kate Davenport
DESCRIPTION:I will discuss how common variants in the sequence of the huma
 n genome confer risk of common diseases\, often by deciding where individu
 als are placed on a normal distribution curve of physiologic function. I w
 ill give a few examples from the work of the deCODE laboratory such as the
  ones on thyroid cancer\, urinary bladder cancer and sick sinus syndrome. 
 Then I will discuss the role of rare variants with large effects on the ri
 sk of common diseases and give examples from ovarian cancer\, basal cell c
 arcinoma and Alzheimer’s disease. I will discuss some of the analytical 
 and technical challenges facing those who search for the rare variants. I 
 will place emphasis on the role of de novo mutations in the pathogenesis o
 f diseases of the brain such as autism and schizophrenia. I will end my ta
 lk by discussing briefly how genetic and environmental components of the r
 isk of common diseases are entwined. 
LOCATION:Cancer Research UK Cambridge Research Institute\, Lecture Theatre
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