Research led by Diagnostics and Imaging Theme lead, Professor Neil Sebire aimed to investigate which aspects of post-mortem examinations in stillbirths are most effective at providing a cause of death.
GOSH BRC-funded, Senior research associate, Dr Wendy Heywood has been awarded £98,000 from the UCL Confidence in Concept fund to develop newly discovered biomarkers for disease stratification of mucopolysaccharidosis (MPS) into a clinical assay for validation.
A Non-Invasive Prenatal Test (NIPT) evaluated by a team led by BRC-supported Professor Lyn Chitty is to be introduced into the NHS for the screening of Down’s syndrome, Edwards’ syndrome and Patau’s syndrome.
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).
The United States Food and Drug Administration (FDA) granted accelerated approval for a new medication to treat Duchenne muscular dystrophy (DMD). The drug, Eteplirsen, was developed by a UK consortium led by Novel Therapies Theme lead, Professor Francesco Muntoni.
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.