BRC news

BRC latest news

This displays the latest news items related to the Biomedical Research Centre.

Genetic mutation identified for novel form of severe combined immunodeficiency

Research led by BRC Deputy Director Professor Bobby Gaspar and supported by the BRC-funded GOSgene facility, has found that a mutation in the linker for activation of T-cells (LAT) gene leads to a specific form of severe combined immunodeficiency (SCID).

Investigation into the effectiveness of an extended gene panel for the diagnosis of complex neurometabolic phenotypes

BRC-supported Dr Philippa Mills, Professor Peter Clayton and Professor Paul Gissen have led an investigation into the effectiveness of a gene panel, targeting 614 genes, in establishing a diagnosis for patients presenting with a wide array of neurometabolic phenotypes.