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Biomedical Research Centre news

BRC researchers develop a new rapid test for Alzheimer’s and Lewy Body Dementia

18 Dec 2015, 1:29 p.m.

National Institute for Health Research (NIHR) Great Ormond Street Hospital (GOSH) BRC (Biomedical Research Centre) researchers, working in collaboration with the BRC at NIHR Queen Square Dementia and the Wolfson Biomarker Dementia consortium at Institute

Treatment of the central nervous system as well as the peripheral organs proves beneficial in severe cases of Spinal Muscular Atrophy (SMA)

18 Dec 2015, 1:26 p.m.

A pre-clinical study investigating treatment options for a severe form of Spinal Muscular Atrophy (SMA) has demonstrated that optimal treatment of a morpholino antisense oligonucleotide drug is achieved when the drug reaches the central nervous system as

Less intensive chemotherapy avoids irreversible side effects in some childhood cancers

18 Dec 2015, 1:24 p.m.

Children with a kidney cancer known as Wilms’ tumour, who are at low risk of relapsing, can have their chemotherapy reduced. This finding comes from a European-wide trial that studied the drug doxorubicin.

High throughput screening identifies the genetic cause underlying a rare disease in a large nationwide cohort

18 Dec 2015, 1:20 p.m.

A collaborative study between ICH and the Turkish Pediatric Endocrinology Society has used high throughput DNA analysis to identify the genetic cause of primary adrenal insufficiency in more than 80% of affected children.

A new, genetic diagnostic service for ciliopathy disorders has been launched

18 Dec 2015, 1:18 p.m.

In a collaboration between Great Ormond Street Hospital (GOSH) North-East Thames Regional Genetics and the UCL Institute of Child Health, a new genetic diagnostic service for ciliopathy disorders has been launched for service delivery to the NHS.