Genome sequencing paves the way for precision medicine in the NHS: the Pulmonary Arterial Hypertension (PAH) point of view

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• Dr Stefan Gräf
• Thursday 14 February 2019, 13:10-14:00
• 1 Newnham Terrace, Darwin College.

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By definition a rare disease affects less than 5 in 10,000 people. An estimated 80% of these to date known 7,500 diesease are likely to have a genetic cause. Very often, however, an explanation at molecular level is missing. As part of the NIHR BioResource – Rare Diseases consortium, the pilot study of the Genomics England 100,000 genomes project, we sequenced the genomes of more than 13,000 patients diagnosed with one of 15 rare diseases. Examplified by pulmonary arterial hypertension, a rare form of high blood pressure measured in the arteries of lungs, I will take you on a brief journey from the blood sample through to a molecular diagnosis which can inform clinical decision making and lead to novel treatment.

This talk is part of the Darwin College Science Seminars series.

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