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SUMMARY:Rare Disease Patient-Led Functional Genomics- A Tale of Tubulins -
  Dr Pleasantine Mill (University of Edinburgh)
DTSTART;VALUE=DATE-TIME:20240607T140000
DTEND;VALUE=DATE-TIME:20240607T150000
UID:https://talks.ox.ac.uk/talks/id/8eed3b76-1eaa-4926-a9fa-6a31634becb4/
DESCRIPTION:Prof Pleasantine Mill is an MRC Investigator at the MRC Human 
 Genetics Unit at the University Edinburgh\, UK where she leads a programme
  to understand genetic disease and disease mechanisms arising from dysfunc
 tion of mammalian cilia\, called the ciliopathies. With 20 years of expert
 ise in developmental genetics and cell biology\, her work spans from forwa
 rd genetics screens through to candidate discovery in human disease geneti
 cs. Her lab focuses on phenotype-driven projects which disrupt cilia struc
 ture and/or function to undercover underlying genetic changes\, understand
  disease mechanisms and move towards much needed therapeutics for rare dis
 eases. Her novel in vivo work can be summed up as ‘cell biology on an or
 ganismal scale’. Her lab harnesses quantitative imaging across biologica
 l scales (from light microscopy through to electron microscopy) to underst
 and how different types of mammalian cilia are assembled and maintained\, 
 and how they are disrupted by disease-causing mutations. Her work is funde
 d by the UK Medical Research Council\, NIHR\, LifeArc and the European Res
 earch Council\nSpeakers:\nDr Pleasantine Mill (University of Edinburgh)
LOCATION:Medical Sciences Teaching Centre (Lecture Theatre)\, off South Pa
 rks Road OX1 3PL
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/8eed3b76-1eaa-4926-a9fa-6a31634becb4/
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DESCRIPTION:Talk:Rare Disease Patient-Led Functional Genomics- A Tale of T
 ubulins - Dr Pleasantine Mill (University of Edinburgh)
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