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SUMMARY:Needles in a haystack: Tracking down the genetic cause of rare dis
 eases. - Stefan Gräf
DTSTART:20130606T121000Z
DTEND:20130606T130000Z
UID:TALK43993@talks.cam.ac.uk
CONTACT:Sven Friedemann
DESCRIPTION:A disease is classified as rare by the European Union if it af
 fects less than 5 in 10\,000 people of the general population. About 7000 
 rare diseases have been described to date\, of which 80% have a genetic co
 mponent. Recent advances of sequencing methods enable us to read the genet
 ic code of thousands of individuals more efficiently at a much lower cost.
  This seminar will focus on the search for genetic variants that underlie 
 rare diseases using whole exome-sequencing\, a method that interrogates th
 e protein-coding fraction of an individual’s genome. This biomedical res
 earch is deemed to enhance diagnosis\, prognosis and treatment of the resp
 ective diseases.
LOCATION:1 Newnham Terrace\, Darwin College
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