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Genomics

We’ll use the latest advances in genomic medicine not just to treat illnesses – but to help us prevent them in the first place

A person’s genome is the template for their development. A complete catalogue of what they inherit and how this interacts with their environment.

By comprehensively understanding a child’s genomic structure, we can reveal extraordinary insight into their life, and by sequencing both their own and their parents’ genome, we’re able to identify any potential genetic disorders — even those that lie far into their future.

Millie Mae in her garden
Millie Mae

Our goal is to delay the onset of physical and mental health conditions, or better still, prevent them from ever occurring.

It’s ground-breaking science that will enhance our ability to pinpoint the very best treatment, rather than trialling medicine until one works. Helping us be more accurate, more effective and much faster, and give young people the treatment their DNA requires.

Global Genome Institute

A Global Genome Institute will be embedded within the hospital, enabling us to realise the enormous potential of genomic medicine.

Cross-sector expertise and world-class research will search out the early origins of disease affecting both physical and mental health. This will enable trials of new interventions to help children build up resilience to illness.

Our aim is to bring about a paradigm shift, away from reactive approaches, to one based on prevention, early detection and precision intervention that is fully capable of tackling even the rarest of childhood conditions.

Prof David Rowitch, Head of Paediatrics, University of Cambridge
A graphic showing DNA A female scientist in a genetics lab
A graphic showing DNA A female scientist in a genetics lab

Whole genome sequencing leads to better care for Millie-Mae

A Cambridge-based study has shown that the diagnosis and treatment of some of most critically ill babies can be improved by sequencing their whole genome.

The study, which is the latest of its kind in the world, sees advanced genomic sequencing to help doctors identify genetic conditions in neonatal and paediatric intensive care unit.

Mapping of the whole human genome and understanding the genetic basis of disease and recovery is central to our vision for Cambridge Children’s.

The study funded by the National Institute of Health Research (NIHR), the Cambridge Biomedical Research Centre, the Rosetrees Trust and Isaac Newton Trust, discovered that one four babies had an underlying genetic condition.

Two-year-old Millie-Mae Daly faced an everyday risk of life-threatening seizures, which regularly left her in intensive care at Addenbrooke’s and West Suffolk Hospitals.

But by taking part in the Next Generation Children’s Project at Addenbrooke’s, in which 300 critically ill babies had their whole human genome sequenced, doctors were not only able to pinpoint the gene which caused Millie-Mae’s illness, but precisely tailor her medication to help manage it better.

Read Millie-Mae’s story

Sharing our knowledge

By linking our knowledge of genomic sequencing with national health records, we will better understand how genetic health interacts with environmental factors — including education, socio-economics and behaviour — throughout a child’s whole life.

We will then use this research to create a unique library capable of predicting and preventing diseases, and developing adaptive, personalised medicine. All before sharing the life changing lessons we learn across the globe, helping children and young people from the east of England and far beyond.