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SUMMARY:Keynote 5\, Prof Liz Carpenter: Using Structural biology of human 
 membrane proteins to understand the causes of genetic diseases
DTSTART;VALUE=DATE-TIME:20191010T080000Z
DTEND;VALUE=DATE-TIME:20191010T084000Z
DTSTAMP;VALUE=DATE-TIME:20260527T002144Z
UID:indico-contribution-762@lindico453.srv.lu.se
DESCRIPTION:Speakers: Liz Carpenter (University of Oxford\, UK)\nThe human
  genome project and subsequent sequencing efforts of thousands of patients
  and healthy individual provides a wealth of associations between variants
  in genes and diseases. At the SGC our aim is to create a step-change in d
 rug development by providing tools (proteins\, structures\, assays and bou
 nd small molecules)\, for proteins that are have associations with genetic
  disease. We focus in particular on proteins that are associated with neur
 opsychiatry\, cancer\, rare and metabolic disease\, as well as inflammator
 y conditions. These “Target Enabling Packages” or TEPs\, are made free
 ly available to advance our understanding of the biology of disease and to
  assist in the design of therapeutics. The Carpenter group focuses on inte
 gral membrane proteins\, including ion channels\, solute carriers\, ABC tr
 ansporters and enzymes. Here\, I will discuss three examples of genetic hi
 ts\, PKD2 in kidney disease\, TMEM16K in ataxia and DPAGT1 in congenital m
 yasthenia\, for which we have obtained structures\, and a wealth of additi
 onal improvement in our understanding disease biology. These examples of s
 tructures of genetic hits illustrate the power of structural biology\, as 
 well as the need for extensive additional information\, to provide an unde
 rstanding of disease biology\, which is essential for development of thera
 peutics.\n\nhttps://lindico453.srv.lu.se/event/125/contributions/762/
LOCATION:Kulturen Auditorium
URL:https://lindico453.srv.lu.se/event/125/contributions/762/
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