BEGIN:VCALENDAR
VERSION:2.0
PRODID:-//Talks.cam//talks.cam.ac.uk//
X-WR-CALNAME:Talks.cam
BEGIN:VEVENT
SUMMARY:Mitochondrial Disease in Australian Children – genomics\, epidem
 iology and functional validation - Professor David Thorburn | MCRI 
DTSTART:20190326T150000Z
DTEND:20190326T160000Z
UID:TALK120697@talks.cam.ac.uk
CONTACT:Hannah Burns
DESCRIPTION:David Thorburn is a Group leader at the Murdoch Children's Res
 earch Institute in Melbourne\, Australia and co-leads the Mitochondrial Fl
 agship of the Australian Genomics Health Alliance with John Christodoulou.
  For the last quarter-century his lab has been the major referral centre i
 n Australia for children suspected of mitochondrial disease. Exome sequenc
 ing with extended genomic and functional analyses have allowed them to ide
 ntify molecular diagnoses in about 80% of patients from retrospective coho
 rts with Complex I deficiency\, Leigh syndrome and a population based coho
 rt. Diagnostic yield is lower in prospective cohorts but techniques such a
 s targeted cDNA analyses\, synthetic linked read (Chromium) sequencing and
  quantitative proteomics have aided in validation and discovery of mutatio
 ns in known and novel disease genes.
LOCATION:Sackler Lecture Theatre (Level 7) Wellcome Trust/MRC Building\, C
 ambridge Biomedical Campus
END:VEVENT
END:VCALENDAR