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

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.

Identification of genetic mutation linked to complications associated with common birthmarks

Research led by BRC-supported Dr Veronica Kinsler has found that a subset of a common type of birthmark, which is associated with severe complications, is caused by activating mutations in the genes GNAII and GNAQ. These findings could lead to early identification of infants at risk of serious complications.

GOSH BRC researchers have identified a genetic cause for a rare form of epilepsy

GOSH BRC-supported researchers Dr Philippa Mills and Professor Peter Clayton, have identified a fault in the gene proline synthetase co-transcribed homolog (bacterial) (PROSC) in children with a rare strain of vitamin-B6 dependent epilepsy who are un-responsive to standard anti-epilepsy drugs. 

Positive preliminary results from the Rapid Paediatric Sequencing Project

The Rapid Paediatric Sequencing Project (RaPs) is a pilot project aimed at evaluating the use of rapid whole genome sequencing (WGS) for rare diseases in a clinical setting. Successful results have been received from the first patients to have taken part.