ESR7 – Elkyn Fabien Estupiñan Moreno

Host Institution:



Javier Martín


José Rodríguez, Ann Morgan, Miguel González-Gay, Maria Cid

Project title: Identification of functionally relevant genetic variants associated with GCA


We have identified loci associated with GCA using large scale genomic approaches. However, the functional relevance of the associated genetic variants is unknown. Increased functional understanding is essential for the translation of genetic findings into the clinic.


Identification of functionally-relevant genetic variants will be performed by undertaking fine-mapping studies, meta-analysis of GWAS data to define genetic variants related to distinct GCA phenotypes and investigation of epigenetic changes in extreme clinical phenotypes (Objective 5).

Expected Results:

Identification of key functional genetic variants associated with GCA and major clinical phenotypes. Contributing evidence to support key pathogenic processes in GCA and how these may differ in alternative clinical phenotypes.

Planned Secondments:

EG: 3 mths (Input into the Eagle knowledge discovery platform), IDIVAL: 2 mths (linking genetics to clinical phenotype in GCA), UNIVLEEDS: 2 mths (aligning genetic and genomic analyses performed by ESR7 and 8)

(EURAXESS Job Offer id: 379592)