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Biomedical Research Centre news

Genetic mutation identified for novel form of severe combined immunodeficiency

14 Dec 2016, 10:03 a.m.

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).

Positive interim analysis of Phase 3 studies in spinal muscular atrophy

14 Dec 2016, 10:02 a.m.

Biogen and Ionis Pharmaceuticals announce positive results at interim analysis of two Phase 3 studies both trialling the drug nusinersen in patients with spinal muscular atrophy (SMA).

Accelerated approval granted for drug developed at GOSH

14 Dec 2016, 9:55 a.m.

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 Francesc

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

14 Dec 2016, 9:45 a.m.

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 neurometabol

North Thames recruitment to 100,000 genome project exceptionally strong for rare diseases

14 Dec 2016, 9:41 a.m.

The North Thames Genomic Medicine Centre’s (GMC) has recruited 5,200 genomes to the 100,000 Genomes project for rare diseases, making up around 28% of those recruited nationally.