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Our Centre for Genomic Medicine will be one of two flagship centres within the research institute. It will deploy cutting-edge genomics to find new and better diagnostics and treatments.

Here, we will develop clinically applicable methods – particularly whole genome sequencing (WGS) and gene and cell therapies – to help predict, prevent and treat rare diseases, focusing in particular on serious neurogenetic disorders.

The Centre will draw together already exceptional expertise in paediatric rare disease from across the Biomedical Campus and the University. This, combined with our ability to capture comprehensive genomic patient data, ideally places us to develop novel treatments, improve health outcomes and better understand life-course impact.

Man looking through research equipment

Whole Genome Sequencing

The ability to rapidly sequence an individual’s genome through whole genome sequencing is already responsible for a substantial and immediate impact on clinical outcomes. Researchers from the University of Cambridge, in partnership with Addenbrooke’s Hospital, have pioneered the use of WGS as a diagnostic tool for intensively ill children, including those admitted to the Hospital’s intensive care unit.

By sequencing the genome of both a child and their parents, researchers have been able to identify within just two weeks whether a child suffers from a genetic disorder – previously this has sometimes taken years. A positive diagnosis then allows doctors to tailor clinical management by matching the best drugs or other treatments to the child’s specific needs (or, at the very least, to stop further intrusive and unnecessary tests), intervening at a time when treatment is likely to prove most effective.

The success of our pilot provides a blueprint for a new standard of medical practice that can be implemented in national healthcare systems across the world. Recognising the potential of this step-change, NHS England is leading the way and rolling out WGS for critically-ill babies and children throughout the country. The NHS will be the first healthcare system in the world to do so, creating a model with the potential to be a global exemplar. Given that serious genetic disease is the leading cause of death in children under one year of age and accounts for 30 percent of all paediatric hospital admissions, there is enormous potential for a historic global change in the quality of children’s healthcare.

We will play a key role in driving the expansion of WGS.

Millie Mae in her garden
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.

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 here.

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 aged 0-19, including those with cancer, from the east of England and far beyond.