THE PARLIAMENTARY REVIEW
Highlighting best practice
THE PARLIAMENTARY REVIEW
Highlighting best practice
16 | UCL GREAT ORMOND STREET INSTITUTE OF CHILD HEALTH
therapies in a unique environment for
paediatric experimental medicine. This
research is focused on four themes
of gene, stem and cellular therapies,
genomics and systems medicine,
novel therapies and their translation
into childhood diseases and advanced
treatments for structural malformation
and tissue damage.
Examples of some of the world-
leading research of GOS ICH are
describedbelow.
Rapid DNA sequencing
improves clinical care
We have explored the clinical utility of
rapid whole genome sequencing for
the diagnosis of acutely sick children
on the GOSH paediatric intensive
care unit, known as the “Rapid
Paediatric Sequencing” project. We
have successfully sequenced 39 child–
parent trio samples presenting with a
spectrum of clinical conditions ranging
from immunological to neurological
disorders, and identified clinically
pathogenic variants causing the acute
illness in 39 per cent of children.
A pipeline for rapid foetal exome
sequencing for genetic diagnosis
in foetuses, with abnormalities
on ultrasound scan has also been
developed, and rapid genetic diagnosis
through sequencing of the sick neonate,
child and foetus are about to be offered
across England in the new NHS Genomic
Medicine Service. NHS implementation
means that families across England will
be able to access rapid diagnosis.
Genetic diagnosis for children
with disabling dystonia
Professor of Neurogenetics, Manju
Kurian, and her research team at GOS
ICH and GOSH studied a group of
children with very disabling dystonia
– twisting postures and movements
– who had been diagnosed as having
cerebral palsy.
Some of the features of the children did
not, however, fit with a diagnosis of
cerebral palsy. They did not, for instance,
have any history of birth trauma or
early brain injury, their symptoms were
progressive over time, and features
on neuroimaging were not typical for
cerebral palsy. Professor Kurian’s studies
identified genetic mutations in many of
these children which accounted for their
abnormal and disabling movements.
The group have also demonstrated
that considerable improvements in the
children’s movement disorders can be
achieved through the use of deep brain
stimulation, with some children even
regaining the ability to independently
walk again. This has provided the
families with accurate diagnosis, genetic
counselling about the risks of having
further children with these problems in
the immediate and extended families and
the opportunity for new treatments.
Working with public health
organisations on vaccinations
In the debate about the falling
proportions of children receiving
measles vaccination, the institute’s
researchers have played a prominent
role. Professor Helen Bedford has a long
track record in investigating beliefs and
Working with public
health organisations on
vaccinations
Our ambitious
research and
education
programmes
contribute to
improvements
in diagnosis,
clinical care
and child
health,
globally
“
“
17UCL GREAT ORMOND STREET INSTITUTE OF CHILD HEALTH |
CARE
attitudes to vaccination among parents
and, as an enthusiastic supporter of
vaccination, she has, nonetheless,
argued that one should respect and
support parents who are trying to make
the best decision for their children.
In the debate about whether vaccination
should be compulsory, Professor Bedford
presented in the
British Medical Journal
in October 2019 the case against, mainly
on the grounds that it would damage
the public’s trust in health professionals
and disproportionately disadvantage
children of poorer parents.
Increasing survival rates for
newborns throughout the world
Each year, around 2.5 million children
die in their first month of life, one
million of whom die on their day
of birth. Around 70 per cent of
newborn deaths are preventable by
implementing effective, low-cost
solutions. GOS ICH’s multidisciplinary
work with industry partners seeks to
reduce this shocking statistic through
the creation of the Neotree app.
The Neotree app was co-created by
Dr Michelle Heys and her team at
GOS ICH and with wider industry and
national partners. The mobile app
aims to improve quality of care and
newborn survival through: immediate
data-capture, emergency decision-
support, non-emergency clinical and
management decision-support and
feedback of data to dashboards and
national aggregate data systems.
The app is suitable for all healthcare
workers, providing them with expert
guidance on neonatal care and
diagnosis in areas with limited access
to resources. Developed and tested
in Malawi, this agile, feasible and
accessible tool is currently being further
co-developed and evaluated there
and in Zimbabwe. The wider aim is to
increase rates of newborn survival in
underresourced healthcare settings and
to improve the quality of newborncare.
The opening of the Zayed
Centre for Research into Rare
Disease in Children
Most recently, the partnership between
GOS ICH, GOSH and GOSH Charity has
led to a new research building, beside
the existing GOS ICH building. The
Zayed Centre for Research into Rare
Disease in Children opened in 2019
and provides state-of-the-art platforms
for research into genetic and genomic
medicine, regenerative medicine and
cell and gene therapy. Through this
fabulous facility, we aim to increase
the speed and effectiveness by which
we can develop cures for life-limiting
and disabling childhood conditions for
which we currently have no treatments.
The Zayed
Centre for
Research will
enable us to
accelerate the
rate that we
are able to
cure diseases
that are
currently
incurable
“
“
Zayed Centre for
Research into Rare
Disease in Children
Rt Hon The Lord David Blunkett
Rt Hon The Lord Eric Pickles
