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SUMMARY:Pharmacology Seminar Series: Dr Elle McDonagh\, Variant interpreta
 tion at scale for safer and more effective disease treatment - Dr Elle McD
 onagh
DTSTART:20260227T130000Z
DTEND:20260227T140000Z
UID:TALK242110@talks.cam.ac.uk
CONTACT:116482
DESCRIPTION:Friday 27 February\, 13:00 - 14:00\n\nSpeaker: Dr Elle McDonag
 h\n\nTalk Title: Variant interpretation at scale for safer and more effect
 ive disease treatment\n\nBiography: Ellen McDonagh\, PhD\, is the Translat
 ional Informatics Director of Open Targets and is Group Leader for the Ope
 n Targets Core Team at the EMBL-EBI. She oversees and develops the strateg
 y for Open Targets open source resources and the informatics research prog
 ramme\, collaborating closely with both academic and industry partners to 
 systematically identify and prioritise targets in a range of diseases to d
 evelop safer and more effective medicines. Prior to joining the Open Targe
 ts team\, she was the Head of Curation and Pharmacogenomics at Genomics En
 gland/QMUL. She helped pioneer a crowdsourcing platform (PanelApp) for the
  expert review and curation of gene panels\, which are used in genome inte
 rpretation for diagnosis of rare disease patients as part of the 100\,000 
 Genomes Project\, and now adopted by the NHSE Genomic Medicine Service and
  Australian Genomics. Ellen also led projects to expand the scope of infor
 mation analysed in patient genomes. These included health-related addition
 al findings\, and evidence-based pharmacogenomics to support the predictio
 n of drug responses to improve patient safety and therapeutic outcomes. Be
 fore joining Genomics England\, she worked as a Scientific Curator at the 
 Pharmacogenomics Knowledge Base (PharmGKB) at Stanford University. In this
  role\, she produced clinical guidelines regarding therapeutic recommendat
 ions based on a patient’s genotype\, provided critical assessment of evi
 dence for gene-drug associations\, and published genetically associated ph
 armacokinetic/pharmacodynamic pathways. She is on the Science and Industry
  Advisory Board (SIAB) for ELIXIR-UK and the Steering Committee for The UK
  Pharmacogenetics and Stratified Medicine Network. She is a member of the 
 Royal Society of Biology. \n\nHer research interests include pharmacogenet
 ics and understanding a patient's response to medicines in order to help p
 rioritise new targets and build therapeutic hypotheses. She is also intere
 sted in understanding disease mechanisms\, learning from the biology of bo
 th rare and common diseases to better stratify\, diagnose and treat patien
 ts. She is keen to focus on diseases that are under-represented\, rare or 
 have not been successfully treated\, as well as ensuring better representa
 tion of under-represented patient groups and ethnicities. She is a co-lead
  of a CZI-funded project to build digital twins for rare diseases and the 
 UKRI MRC-NIHR funded Open Psychiatry Project. 
LOCATION:Seminar Room (Level 2)\, Dept of Pharmacology 
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