NAISS
SUPR
NAISS Projects
SUPR
Genetic studies of Psoriatic arthritis mutilans
Dnr:

sens2025629

Type:

NAISS SENS

Principal Investigator:

Isabel Tapia Paez

Affiliation:

Karolinska Institutet

Start Date:

2025-09-29

End Date:

2026-10-01

Primary Classification:

30107: Medical Genetics and Genomics

Webpage:

Allocation

Abstract

Psoriatic arthritis mutilans (PAM) is the most severe and rare form of psoriatic arthritis (PsA). Until today very little is known about the genetics behind PAM. We were first to identify NOX4 as the first candidate gene for PAM (https://pubmed.ncbi.nlm.nih.gov/38379095/). For most of the patients we did not find causative variants. Now, we want to expand our studies with transcriptome data from a patient without identified causative mutations.