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SUMMARY:Genome sequencing paves the way for precision medicine in the NHS:
  the Pulmonary Arterial Hypertension (PAH) point of view - Dr Stefan Gräf
DTSTART:20190214T131000Z
DTEND:20190214T140000Z
UID:TALK117589@talks.cam.ac.uk
CONTACT:Holly
DESCRIPTION:By definition a rare disease affects less than 5 in 10\,000 pe
 ople. An estimated 80% of these to date known 7\,500 diesease are likely t
 o have a genetic cause. Very often\, however\, an explanation at molecular
  level is missing. As part of the NIHR BioResource - Rare Diseases consort
 ium\, the pilot study of the Genomics England 100\,000 genomes project\, w
 e sequenced the genomes of more than 13\,000 patients diagnosed with one o
 f 15 rare diseases. Examplified by pulmonary arterial hypertension\, a rar
 e form of high blood pressure measured in the arteries of lungs\, I will t
 ake you on a brief journey from the blood sample through to a molecular di
 agnosis which can inform clinical decision making and lead to novel treatm
 ent.
LOCATION:1 Newnham Terrace\, Darwin College
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