Artida Bajrami

• BSc (Hons) Biomedical Sciences
• Understanding the molecular origins of inborn errors of immunity

The aims of the project involve investigating and validating rare genetic errors in individuals that have led to autoimmune disorders using a range of scientific techniques and public databases. One of the aims is to familiarise myself with public genetic databases (NCBI) to map the variants of protein structures. These variants affect both alleles in affected children's genes and change the protein expression, which is linked to the causation of infections, autoimmunity, and cancer. Another aim is to carry out and interpret data from a polymerase chain reaction (PCR) and Sanger Sequencing (SS) to determine the location of a mutation. The key outcomes of the project are to summarise the data from public databases, articles, clinical phenotypes, SS and the PCR. This will be used to determine a molecular diagnosis and suggest whether further tests need to be done to show the extent at which a protein is impaired.

Funding source: Newcastle University

Project supervisor: Professor Sophie Hambleton