A085: Elucidation of the pathophysiology of SAPHO syndrome
FAU own research funding: EFI / IZKF / EAM ...
Start date : 01.06.2020
End date : 30.11.2022
Project details
Scientific Abstract
SAPHO syndrome is a rare inflammatory disease of the skeleton and skin with unsolved etiology, but suspected causal/ disease-contributing genetic factor(s). We identified several rare PLXNA1 variants in patients with SAPHO syndrome. We propose to identify the molecular mechanisms by those human variants that lead to disease. Our study will allow to understand the etiology of SAPHO and to pave the way for planned analyses in vertebrates and genetic follow-up studies.
Involved:
Contributing FAU Organisations:
Interdisziplinäres Zentrum für Klinische Forschung (IZKF)
Lehrstuhl für Humangenetik
Medizinische Fakultät
