Susana Keane

• MSci Biomedical Sciences
• Validation of candidate disease-causing mutations in a novel primary immunodeficiency

Taking genes found by whole exome sequencing (WES) which may be involved in causing a newly recognised  form of primary immunodeficiency(PID), and confirming or disproving the link.  This involves looking at previous research and currently available data to rule out uninvolved genes and select promising genes for further investigation.  The selected genes will be tested for familial links by sequencing family members with and without the PID, this is likely to rule out most of the selected genes.  Remaining genes will then be analysed for patterns of expression.  This information will then be used by the laboratory to continue investigations.

Project Supervisor: Professor Sophie Hambleton, Institute of Cellular Medicine

Funding Source: Newcastle University