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Administration of Non-Cytotoxic Medication via an Intracerebroventricular Reservoir

The purpose of this document is to provide guidance for the administration of non-cytotoxic injection or infusion via an Intracerebroventricular (ICV) reservoir at Great Ormond Street Hospital (GOSH). 

This guideline is to be used for the administration of cerliponase alfa/BMN190 and may need to be adapted for administration of other ICV medications. 

For intrathecal or ICV administration of cytotoxic drugs please see the clinical guideline; Intrathecal cytotoxic chemotherapy: administration via a lumbar puncture or Ommaya reservoir.

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.