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SUMMARY:Regulatory Genomics: From Basic Biology to Disease Mechanisms and 
 Ageing - Dr Judith Zaugg from EMBL in Heidelberg
DTSTART:20190311T130000Z
DTEND:20190311T140000Z
UID:TALK114079@talks.cam.ac.uk
CONTACT:72001
DESCRIPTION:\nGenome-wide association studies have uncovered thousands of 
 correlations between genetic variants and complex human diseases. Unfortun
 ately\, the majority of these disease-associated variants lie in the non-c
 oding part of the genome\, which makes is very difficult to understand the
  underlying molecular mechanisms. Therefore\, to gain a mechanistic unders
 tanding of complex genetic diseases and potentially identify molecular int
 ervention points\, it is essential to understand how genetic and / or epig
 enetic variants affect gene regulation. Dr Zaugg will present her and her 
 group recent work that aims at understanding the impact of variation in re
 gulatory elements on complex phenotypes. In particular\, she will describe
  their multi-omics approach to assess transcription factor (TFs) activity 
 based on epigenetics data\, build disease-specific TF-target gene regulato
 ry networks\, and how we can use these regulatory interactions to gain ins
 ights into molecular mechanisms of disease (e.g. pulmonary arterial hypert
 ension (PAH)) and ageing (e.g. of the immune system). In PAH they found ex
 tensive remodeling of the active endothelial enhancers in patients that se
 emed to prime to cells to an aberrant response to endogenous growth factor
  signaling. For the aging of the immune system our multiomics profiling re
 vealed specific chromatin-related processes downregulated with age that se
 em to skew the differentiation potential of the cells depending on the age
  of the donor. Overall\, their integrative computational tools with a focu
 s on gene regulation provide a powerful approach to gain mechanistic insig
 hts into complex biological processes.\n
LOCATION:CRUK CI Lecture Theatre (Room 001)
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