BEGIN:VCALENDAR
VERSION:2.0
PRODID:-//Talks.cam//talks.cam.ac.uk//
X-WR-CALNAME:Talks.cam
BEGIN:VEVENT
SUMMARY:Deciphering disease mutations and gene regulation through massivel
 y parallel assays of variant effects. - Grzegorz Kudla- University of Edin
 burgh
DTSTART:20260219T150000Z
DTEND:20260219T160000Z
UID:TALK242680@talks.cam.ac.uk
CONTACT:90994
DESCRIPTION:Grzegorz Kudla is a Professor at the MRC Human Genetics Unit i
 n Edinburgh\, where his group develops methods to measure the functional i
 mpact of genetic variants at scale. Using multiplex assays of variant effe
 cts (MAVEs)\, they map how mutations alter enzymatic activity\, protein st
 ability\, and cell signalling in genes linked to rare and common diseases.
  Most recently\, they have focused on Parkinson’s risk genes GBA1 and Pa
 rkin\, using mechanistic assays to reveal structural defects that alter en
 zyme function and drive pathogenicity. In parallel\, the lab investigates 
 how synonymous mutations disrupt gene expression through unexpected effect
 s on splicing and translation. By combining high-throughput mutagenesis wi
 th biochemical assays and RNA analysis\, Kudla’s work aims to decode how
  genotype shapes molecular phenotype and to develop tools for interpreting
  variants of uncertain significance. He trained with Maciej Zylicz (Warsaw
 )\, Joshua Plotkin (Harvard) and David Tollervey (Edinburgh)\, and co-deve
 loped RNA methods including CRAC\, CLASH\, and COMRADES.
LOCATION:Jean Thomas Lecture theatre\, Sanger Building\, Tennis Court Road
END:VEVENT
END:VCALENDAR