UCL Great Ormond Street Institute of Child Health

A Message from Lord Pickles and Lord Blunkett, followed by UCL Great Ormond Street Institute of Child Health's best practice article

The ability to listen and learn from one another has always been vital in parliament, in business and in most aspects of daily life. But at this particular moment in time, as national and global events continue to reiterate, it is uncommonly crucial that we forge new channels of communication and reinforce existing ones. The following article from UCL Great Ormond Street Institute of Child Health is an attempt to do just that. We would welcome your thoughts on this or any other Parliamentary Review article.

Blunkett signature Rt Hon The Lord David Blunkett
Pickles signature Rt Hon The Lord Eric Pickles

www.ucl.ac.uk/child-health

BEST PRACTICE SPONSOR 2020
15UCL GREAT ORMOND STREET INSTITUTE OF CHILD HEALTH |
CARE
Director Rosalind L Smyth
Neotree – an app for all
healthcare workers in
resource-limited settings
UCL Great Ormond Street Institute of Child Health, with
its clinical partner, Great Ormond Street Hospital, is the
largest child health research and education institute in
Europe. Its mission is “to improve the health and wellbeing of
children through world-class research, education and public
engagement”. Director Professor Rosalind Smyth explains to
TheParliamentary Review
that developments in DNA sequencing,
genetic diagnosis and technology are helping the institute to
ensure greater health and wellbeing for children worldwide.
Our activities span the full spectrum of child health, from investigations into the
underpinning genomic mechanisms of disease to clinical studies of novel therapies
for rare diseases through to population-based studies and global health. On
publication metrics, we are consistently in the top three of child health research
institutes in the world. Around 200 students are studying for master’s courses
in programmes related to child health and we have a further 200 or so research
students registered for PhDs.
The financial turnover of the institute is around £60 million per annum. The
majority of this is awarded through nationally or internationally competitive
research funding. One of the most important of these awards is, in partnership
with GOSH, funding awarded by the National Institute of Health Research to
provide the only NIHR Biomedical Research Centre that focuses on child health.
The funding for this centre was originally awarded in 2007 and renewed in 2012
and 2017. The GOSH BRC delivers world-class research, with excellence in clinical
care and training to enable more children to receive disease-specific, curative
FACTS ABOUT
UCL GREAT ORMOND STREET
INSTITUTE OF CHILD HEALTH
»Director: Rosalind L Smyth
»Established in 1946
»Based in London
»Services: Education and
research
»No. of employees: 570 staff
with around 200 PhD students
and 200 master’s students
UCL Great Ormond Street
Institute of Child Health
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
describedbelow.
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 newborncare.
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
BEST PRACTICE SPONSOR 2020
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
describedbelow.
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 newborncare.
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

www.ucl.ac.uk/child-health

This article was sponsored by UCL Great Ormond Street Institute of Child Health. The Parliamentary Review is wholly funded by the representatives who write for it. The publication in which this article originally appeared contained the following foreword from Rt Hon Elizabeth Truss.

Rt Hon Elizabeth Truss's Foreword For The Parliamentary Review

By Rt Hon Elizabeth Truss

Even by the standards of the day –this has been one of the most exciting and unpredictable years in British politics.

The leadership election we’ve just seen marks a huge moment in our country’s history. This government is taking a decisive new direction, embracing the opportunities of Brexit and preparing our country to flourish outside the EU.

As international trade secretary, I’ll be driving forward work on the free trade agreements that are going to be a priority for the government. Free trade isn’t just an abstract concept bandied around by technocrats. It is crucial for a strong economy and for the ability of families to make ends meet. Free trade benefits people in every part of our country, as British firms export to new markets and people doing the weekly shop have access to a wider choice of goods at lower prices.

The essence of free trade is in the title: freedom. It’s about giving people the power to exchange their goods without heavy government taxation or interference. Commerce and free exchange are the engine room of prosperity and social mobility. I’m determined to tackle the forces who want to hold that back.

One of my priorities is agreeing an exciting new free trade deal with the US, building on the great relationship between our two countries and the Prime Minister and US President. But I’ll also be talking to other partners including New Zealand, Australia and fast-growing Asian markets.

And with the EU too, we want a friendly and constructive relationship, as constitutional equals, and as friends and partners in facing the challenges that lie ahead – a relationship based on a deep free trade agreement. Our country produces some of the world’s most successful exports, and the opportunity to bring these to the rest of the world should make us all excited about the future. It is this excitement, optimism and ambition which I believe will come to define this government.

For too long now, we have been told Britain isn’t big or important enough to survive outside the EU – that we have to accept a deal that reflects our reduced circumstances. I say that’s rubbish. With the right policies in place, we can be the most competitive, free-thinking, prosperous nation on Earth exporting to the world and leading in new developments like AI. To do that, we’ll give the brilliant next generation of entrepreneurs the tools they need to succeed. Since 2015, there has been a staggering 85 per cent rise in the number of businesses set up by 18 to 24 year olds – twice the level set up by the same age group in France and Germany. We’ll help them flourish by championing enterprise, cutting taxes and making regulation flexible and responsive to their needs.

As we do that, we’ll level up and unite all parts of the UK with great transport links, fibre broadband in every home and proper school funding, so everyone shares in our country’s success.

2019 has been the year of brewing economic and political revolution. 2020 will be the year when a revitalised Conservative government turbo charges the economy, boosts prospects for people across the country, and catapults Britain back to the forefront of the world stage.



Rt Hon Elizabeth Truss
Secretary of State for International Development