Daniel Ahlert

• MBBS
• Functional Sequelae of Factor 1 Heavy Chain Mutations in Atypical Haemolytic Uraemic Syndrome

Factor I (fI) is a protein that is composed of two chains called the Heavy (HC) and the Light (LC) chains.  Abnormal forms of the fI protein are found in some patients with a rare inherited condition called atypical haemolytic uraemic syndrome (aHUS), which causes severe kidney failure. It has previously been shown that mutations in the LC cause aHUS by failing to control damage in the kidney. The function of the HC of fI and its role in aHUS is unknown. This project will look at how mutations in the HC cause disease; this may identify future treatment strategies.

Funding Source:  Wellcome Trust