Mila Batacchi

• BSc (Hons) Biomedical Sciences
• Validation of candidate disease-causing variants in children with primary immunodeficiency

Inborn errors of the immune system can lead to serious infection, autoimmunity and cancer in young children. Working out which genetic change has caused the problem can help look after affected children better. It can also teach us about what genes and proteins are important in the normal immune system.  In this project I will be looking for evidence of which genetic change is responsible for a newly recognised form of immunodeficiency.  I will examine how a candidate gene variant links with disease within an affected family, and what effect it has on levels of the related protein.

Funding Source: Newcastle University