A year of research at GOSH

23 Dec 2018, 9 a.m.

Camelia Botnar Labs

A whole host of exciting scientific discoveries have been made at Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health (ICH). We’re unwrapping our biggest discoveries from the last 12 months.

As a research hospital, every year GOSH and the ICH carry out more than 1,200 active research projects, all aimed at finding new treatments and better ways to care for children with rare and complex conditions. Just a few research highlights include...

A quicker diagnosis for critically ill children

Researchers from GOSH and the ICH identified the need to quickly identify rare genetic conditions – frequent risk factors for paediatric intensive care admissions. The team developed a method of rapidly sequencing the genes of critically ill children, helping with their diagnosis.

The team successfully applied this workflow in critically ill children and obtained a diagnostic rate of 42%. The shortest time taken to reach a diagnosis was just four days – meaning children could potentially leave the intensive care unit sooner.

A cause for the blood vessel defect arteriovenous malformation

Drugs normally used to treat cancer could reduce the disfigurements of thousands of children born with life-threatening blood vessel defects, according to research led by GOSH and the ICH.

Following DNA testing, scientists have been able to pinpoint the group of genes responsible for causing blood vessel defects in arteriovenous malformation. For the first time, they have identified drugs which could target the underlying cause of the condition.

The research, led by Dr Veronica Kinsler, Consultant Paediatric Dermatologist at GOSH and Principal Investigator and Wellcome Trust Fellow at ICH, will now be tested in an international clinical trial, planned to start next year.

Using cannabis-derived drugs to help children with rare forms of epilepsy

In a clinical trial led at GOSH by Professor Helen Cross, cannabidiol cut the number of drop attacks – a type of epileptic seizure – which children with Lennox–Gastaut syndrome (LGS) experienced. LGS is a rare type of epilepsy which typically occurs between ages three to five years and can be caused by head injuries, nervous system infections and genetic conditions.

“These studies provide robust evidence of the effectiveness of cannabidiol for children with drug resistant forms of epilepsy and will have significant impact for patients with these serious and debilitating conditions,” said Professor Cross.

Identifying a gene that causes a rare skin and muscle condition

A new, in-depth method has helped shed light on the key role of B cells, a type of immune cell, in the rare childhood condition juvenile dermatomyositis (JDM). 
The new approach, brings together genomic, clinical and molecular information to help researchers develop a clearer picture of the characteristics or ‘phenotype’ of rare conditions and understand why patients are affected differently.

This research, which was the first to use this in-depth approach to phenotyping, identified IFN alpha and TLR7 as promising targets for new therapies for JDM and as important indicators of the condition’s severity and the patient’s risk of developing complications.

Targeted treatment for a rare form of rickets

Precision medicine research taking place at the National Institute for Health Research (NIHR) GOSH Clinical Research Facility (CRF) developed more targeted and effective treatments for children who have a rare form of rickets called X-linked hypophosphatemia (XLH).

Dr William van’t Hoff, director of the NIHR GOSH CRF, said “Previously, people with XLH were treated with high doses of phosphate and vitamin D, but a clinical trial offered a new more targeted treatment. This kind of precision medicine, or designer medicine as its sometimes called, is helping us find more effective treatments for patients at GOSH and children across the world. It’s a really exciting time to be involved in research with children.”

Growing a bio-engineered oesophagus in the lab

A biorector developing a tissue-engineered oesophagus

Researchers have grown the world’s first oesophagus engineered from stem cells and successfully transplanted them into mice, in a pioneering new study led by GOSH and the ICH. 
It is hoped this new research could pave the way for clinical trials of lab-grown food pipes for the thousands of children who are born with gut conditions, or who develop them later in life.
Professor Paolo De Coppi, who co-led the study, Consultant at GOSH and Head of Stem Cells and Regenerative Medicine at ICH said: “This is a major step forward for regenerative medicine, bringing us ever closer to treatment that goes beyond repairing damaged tissue and offers the possibility of rejection-free organs and tissues for transplant."

The UK’s first fetal surgery for spina bifida

This summer a team from GOSH and University College London Hospitals (UCLH) have carried out operations on the damaged spinal cords of two babies in the womb, in what are the first surgeries of their kind in the UK. Until now, mums could choose to have the fetal surgery abroad or have postnatal surgery after the baby is born, which is the current practice in the UK.

Hundreds more research breakthroughs are being made every day across a wide range of clinical specialties at GOSH and UCL. All these breakthroughs depend on the hard work and dedication of the multidisciplinary teams of doctors, nurses, allied health professionals, support staff, scientists and administrators who all come together to help advance our knowledge of child health and ultimately improve the lives of children with rare and complex conditions.

Gene therapy offers hope to children with rare and fatal brain diseases

Scientists and doctors at UCL GOS ICH and GOSH have given hope of a gene therapy cure to children with a rare degenerative brain disorder called Dopamine Transporter Deficiency Syndrome (DTDS)

Origins of kidney cancers confirmed

The origins of seven types of kidney cancer, including several rare subtypes, have been identified.

Learning from patients and families during a pandemic

Researchers have worked with a patient support group to better understand the wide range of parenting experiences during the pandemic.