*Seminar Series: IMB Seminar Series
*Location: QBP Auditorium, Bld 80
*Date: 25/08/2017
*Time: 12:30

Speaker #1 details
*Title of talk: Genetic variation in the complement factor h-related protein 3 gene controls factor H blood levels and determines susceptibility to meningococcal disease
*Speaker's name: Dr Sonia Davila
*Speaker's organisation: SingHealth Duke-NUS Institute of Precision Medicine (PRISM).
Speaker's city/state/country: Singapore
Talk Abstract: Genetic variants within complement factor H (CFH) and the five complement factor H-related (CFHR) genes have been associated with susceptibility to a range of human diseases. Factor H (FH) acts as a negative regulator of the alternative complement activation pathway and its circulating plasma levels, mainly secreted by the liver, have been associated with susceptibility to infectious and autoimmune diseases. We have characterized the extremely complex CFH-CFHR1-5 gene interval and fine-mapped the association signal of susceptibility to meningococcal disease. Functional studies demonstrated that the lead SNP in CFHR3 lies in a liver-specific regulatory region that has been shown to loop and interact with CFH at the genomic level. Our data demonstrate that FH is the complement protein associated with meningococcal disease susceptibility and that its expression levels are controlled through a cis-regulatory element located in intron 1 of CFHR3 providing a molecular mechanism relevant to complement dysregulation related diseases.
Speaker's bio: Sonia Davila completed her undergraduate and graduate studies in Spain. Upon graduation she moved to Yale University where she participated actively on identification of two human genes causing Polycystic Liver Disease.
She then joined the Genome Institute of Singapore and focused on human genetic susceptibility to infectious diseases. Her work resulted on identification of new genetic variants associated to several infectious diseases.
She is currently working at SingHealth Duke-NUS Institute of Precision Medicine (PRISM). Sonia is an Adjunct Associate Professor at Duke-NUS and an Honorary Senior Research Fellow at Imperial College London.

Speaker #2 details
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Other Details:
*Host name: Associate Professor Lachlan Coin
Host phone number:
*Host email: imbevents@uq.edu.au