BEGIN:VCALENDAR
VERSION:2.0
PRODID:-//Memento EPFL//
BEGIN:VEVENT
SUMMARY:Genetic “drivers” of the autoimmune disease systemic sclerosis
 : What can rare families tell us?
DTSTART:20251021T121500
DTEND:20251021T131500
DTSTAMP:20260501T112148Z
UID:9158e072b4bec4a9b6e4597104496146d72bce0256e16eae99844117
CATEGORIES:Conferences - Seminars
DESCRIPTION:Nisha Limaye\, Genetics of Autoimmune Diseases & Cancer (GEDI)
 \, de Duve Institute\, UCLouvain\, Belgium\nSystemic sclerosis (SSc) is a 
 relatively rare rheumatological condition characterized by vascular\, immu
 ne and connective tissue dysregulation. There are currently no effective d
 isease modifying therapies\, nor have any genetic “causes” been identi
 fied yet. While typically sporadic\, SSc can in rare cases recur in famili
 es. Using whole exome sequencing (WES) data from the members of six such f
 amilies\, we set out to identify and functionally test for potential “dr
 ivers” of SSc: variants with demonstrable effects on protein and cell fu
 nction. We allowed for both genetic heterogeneity (different genes in the 
 different families)\, and for transmission of SSc as a di- or oligo-genic 
 trait (more than one gene per family). Intriguingly\, variants in the PRKD
 2 gene\, identified in two of the six families\, both seem to cause increa
 sed T cell activation\, with overlapping but not identical effects on T ce
 ll receptor-mediated signaling. In each of these families\, the PRKD2 vari
 ant is “paired” with a variant in a candidate gene that causes a Mende
 lian disease with some phenotypic overlap with SSc: NT5E (CD73\, responsib
 le for extracellular adenosine production) in one family\, and STING1 (the
  central effector of the cGAS/STING danger-sensing pathway) in the second.
  I will discuss our efforts to try and decipher whether\, and how\, each o
 f these genes may be able to contribute to the pathogenesis and phenotypic
  variability of SSc.
LOCATION:SV 1717 https://plan.epfl.ch/?room==SV%201717
STATUS:CONFIRMED
END:VEVENT
END:VCALENDAR