The prospect of widespread access to a life-changing drug for children with a rare muscular disorder is a step closer today after the United States Food and Drug Administration (FDA) granted accelerated approval for a new medication.
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.
Peut-Être Theatre will be undertaking a period of creative research at Great Ormond Street Hospital (GOSH) in September and October 2017 in partnership with GOSH Arts, patients and families and the Psychological Services Department.
To celebrate International Nurses Day, we caught up with Beth who has been coming to Great Ormond Street Hospital (GOSH) since she was only 18 months old. Now 19, she’s studying to become a children’s nurse and wants to work at GOSH when she graduates. Here's her story:
The Parenting and Child Service (PACS) offers a specialist out-patient service for children and families where there has been a history of abuse, neglect or trauma. The team is currently configured of two teams: the Attachment and Trauma Team (ATT) and the Child Care Consultation Team (CCCT).
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-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.
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.
Researchers at GOSH and ICH have been the first team to identify a novel recessive mutation in the transcriptional regulator LHX4 in a family with severe hypopituitarism – a condition that describes the loss of all pituitary hormones.
Researchers led by BRC-supported Dr Karin Tuschl in collaboration with Dr Esther Meyer have discovered that a form of childhood Parkinsonism is caused by a defective gene encoding a metal transporter called SLC39A14
Two-year-old Ellie loves playing on the swings and slide and is hoping for a trampoline for her third birthday. But just last year, she spent five months on a Berlin Heart at Great Ormond Street Hospital (GOSH) while waiting for a heart transplant.
Research carried out by BRC-funded Professor Paul Brogan and his team has defined a new autoinflammatory disease (AID) in humans with periodic fevers, immunodeficiency and intermittent thrombocytopenia.