A year of research

As a research hospital, every year Great Ormond Street Hospital (GOSH) and the UCL Great Ormond Street Institute of Child Health (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.

This year there have been a whole host of exciting discoveries. We’re unwrapping the biggest discoveries from 2018. All of the research listed below received funding support from GOSH Charity.

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 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.

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”.

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.

Discover more about how GOSH Charity supports pioneering research at GOSH and the ICH.