RNA phenotyping in C3 glomerulopathy

Study code

Lead researcher
Daniel Gale

Study type
Participant re-contact

Institution or company
Royal Free Hospital

Researcher type

Speciality area
Kidney Disorders, Genomics and Rare Diseases


C3 glomerulopathy (C3G) is a rare kidney disease in which the overactivation of the complement system (part of the immune system that the body depends on for defence against infections) damages the filtering units of the kidney.

Analysis of genome sequence data (the full set of genes or instructions that control how our bodies develop and function) from patients with C3 glomerulopathy has shown that this can either be caused by a fault in a gene that disrupts normal control of the complement system or, more commonly, by malfunction of the cells of the immune system which then produce an antibody (called a C3 Nephritic Factor) that switches on the complement system – a process called autoimmunity.

We now propose to look more closely at the immune cells in the blood of people affected to see how their function is different in the autoimmune and genetic forms of the disease, as well as comparing them with immune cells in people with other kidney diseases and in healthy people. The patients were recalled from the Primary Membranoproliferative Glomerulonephritis and C3 Glomerulopathy (PMG) cohort at the Rare Diseases BioResource.