Approved research

Genetics of Systemic Sclerosis and related autoimmune disorders

Lay summary

Systemic sclerosis (SSc) is a rare autoimmune disorder that is characterized by an abnormal immune response and fibrosis. Autoimmune disorders are complex diseases in which both genetic and environmental factors interact in the disease onset and progression. Genome-Wide Association Studies (GWAS) interrogate millions of genetic variants through the human genome and identify those that are more frequent in patients than in healthy controls. GWAS have successfully identified tens of variants associated with SSc susceptibility, but we do not know how these variants act and lead to disease. In a long-term study that will span up to 3 years, we will characterise the known genetic associations with SSc and we will discover how they contribute to the development of SSc. Finally, we will use these variants to identify individuals with a high risk of suffering SSc. The results of our study will suggest potential drug targets and contribute to provide patients with personalized treatments based on their genetic profile.