Anne Kesselheim

At UCL, we are a mixed group of Scientists, Clinicians, Geneticists, Bioinformaticians and Computer Scientists working together on the discovery and understanding of rare hereditary kidney diseases. We are keen on uncovering the pathomechanisms of such diseases on the cellular and molecular level and apply a broad range of methodologies, techniques and assays carrying out our research. My project is about a rare kidney disease with pancreas and liver involvement caused by a single point mutation in the regulatory part (promoter) of the disease-causing gene. I just generated a liver cell model harbouring this mutation using the CRISPR-Cas9 technology, which enables us to investigate the effect of the mutation on gene regulation in an elaborate chromatin conformation study (Capture C).