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 well as the peripheral organs.
BRC-supported researcher, Dr Manju Kurian has collaborated with researchers at the University of Cambridge and the NIHR Rare Disease Bioresource, to identify a new genetic cause of complex early-onset dystonia.
A drug for Duchenne Muscular Dystrophy (DMD), originally developed by BRC Theme Lead Professor Francesco Muntoni’s Consortium in the UK, has been filed by Sarepta Therapeutics for accelerated approval by the United States Food and Drug Adminstration (FDA).
A new protein that appears to play a role in mitochondrial disease – a rare condition where a lack of energy in cells means that they can’t function properly – could prove to be important in conditions such as Alzheimer’s, Parkinson’s and Huntington’s diseases.
Research can improve children’s lives, offering new ways of treating diseases or developing new medicines. This information sheet from Great Ormond Street Hospital (GOSH) explains about the research we do and how to find out more.
The clinical team at GOSH works closely with the research department at the Behavioural and Brain Sciences Unit (BBSU) at UCL Great Ormond Street Institute of Child Health (ICH). We collaborate with colleagues around the world to try and understand the genetic, psychological and neurophysiological basis of disorders on the autism spectrum. All information we obtain in terms of interview, observation and other investigations is compiled into anonymised computerised files. From our database of nearly 2000 children, we are able to compare a child’s problems with others seen in our clinic and can look for similarities and differences. For research purposes, we usually ask parents to donate DNA samples too.
Our current research and development projects include the following:
A project to identify the main problem areas and issues related to feeding difficulties in children most relevant to include in parent/carer groups
Development and evaluation of a tube weaning protocol
Collaboration in a study designed to test how good the DAWBA (Development and Well-Being Assessment) is at identifying problems in children in the community and children seen in clinics (with Prof Tamsin Ford and Prof Robert Goodman)
Design and development of a clinical assessment measure for Avoidant Restrictive Food Intake Disorder (with Kamryn Eddy and Jennifer Thomas, Boston, USA)
CT imaging is a vital diagnostic technique, and new applications continue to be identified. However, potential cancer risks exist due to the ionising radiation used in CT scans, especially in children who are more radiosensitive than adults.
Working in close partnership with the Institute of Child Health, University College London and South Bank University, Great Ormond Street Hospital (GOSH) is the largest paediatric research and training centre in Britain.
Ten-year-old Lottie and her brother Ashley, nine, began coming to Great Ormond Street Hospital (GOSH) in 2014 to see Dr William Van't Hoff. They were keen to hear about a new clinical trial for children like them with X-linked hypophosphatemia (XLH) rickets – a genetic condition which prevents normal levels of phosphate being maintained in the blood. XLH can cause pain, bending of the bones and poor growth.
Our long-term commitment to instigating, supporting and delivering cutting-edge research means there are a wide variety of research projects under way at Great Ormond Street Hospital (GOSH) at any given time.