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CATEGORIES:MRC Mitochondrial Biology Unit Seminars
SUMMARY:Mitochondrial Disease in Australian Children – gen
 omics\, epidemiology and functional validation - P
 rofessor David Thorburn | MCRI 
DTSTART;TZID=Europe/London:20190326T150000
DTEND;TZID=Europe/London:20190326T160000
UID:TALK120697AThttp://talks.cam.ac.uk
URL:http://talks.cam.ac.uk/talk/index/120697
DESCRIPTION:David Thorburn is a Group leader at the Murdoch Ch
 ildren's Research Institute in Melbourne\, Austral
 ia and co-leads the Mitochondrial Flagship of the 
 Australian Genomics Health Alliance with John Chri
 stodoulou. For the last quarter-century his lab ha
 s been the major referral centre in Australia for 
 children suspected of mitochondrial disease. Exome
  sequencing with extended genomic and functional a
 nalyses have allowed them to identify molecular di
 agnoses in about 80% of patients from retrospectiv
 e cohorts with Complex I deficiency\, Leigh syndro
 me and a population based cohort. Diagnostic yield
  is lower in prospective cohorts but techniques su
 ch as targeted cDNA analyses\, synthetic linked re
 ad (Chromium) sequencing and quantitative proteomi
 cs have aided in validation and discovery of mutat
 ions in known and novel disease genes.
LOCATION:Sackler Lecture Theatre (Level 7) Wellcome Trust/M
 RC Building\, Cambridge Biomedical Campus
CONTACT:Hannah Burns
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