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SUMMARY:BMI Distinguished Seminar // Rudolf Jaenisch: Rett syndrome\, MECP
 2 and therapeutic strategies
DTSTART:20241211T121500
DTEND:20241211T131500
DTSTAMP:20261005T111035Z
UID:7eb2b846c05c804ff0031cda9ac2d1158bac558ed1916cf0a7e3966a
CATEGORIES:Conferences - Seminars
DESCRIPTION:Rudolf Jaenisch\, MIT\, Cambridge\, USA\nThe development of th
 e iPS cell technology has revolutionized our ability to study development 
 and diseases in defined in vitro cell culture systems. The talk will focus
  on Rett Syndrome and discuss two topics: (i) the use of gene editing as a
 n approach to therapy and (ii) the role of MECP2 in gene expression\n\n(i)
  The mutation of the X-linked MECP2 gene is causative for the disease. In 
 a female patient\, every cell has a wt copy that is\, however\, in 50% of 
 the cells located on the inactive X chromosome. We have used epigenetic ge
 ne editing tools to activate the wt MECP2 allele on the inactive X chromos
 ome.\n\n(ii) MECP2 is thought to act as repressor of gene expression. I wi
 ll present data which show that MECP2 binds to Pol II and acts as an activ
 ator for thousands of genes. The target genes are significantly enriched f
 or Autism related genes. Our data challenge the established model of MECP2
 ’s role in gene expression and suggest novel therapeutic approaches.\n\n
  
LOCATION:SV 1717 https://plan.epfl.ch/?room==SV%201717 https://epfl.zoom.u
 s/j/64813563657
STATUS:CONFIRMED
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