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Dr Richard Scott

Chief Medical Officer, Genomics England

Richard Scott

‘Generation Genomics’

Richard will chair a panel discussion with Sasha Henriques, Principal  Genetic Counsellor at Guys and St Thomas NHS Foundation Trust, Dr Sarah Bowdin,  Medical Director of East Midlands and East of England Genomics Laboratory Hub and Rebecca Middelton, Vice Chair of the Participant Panel at Genomics England. Together they’ll reflect back on the genomic revolution of the last 5 years and the difference it has made for rare disease patients and lay out their plans and vision for the coming 5 years. 

Bio: Richard Scott is Chief Medical Officer at Genomics England. He joined the organisation in 2015.

He is also a Consultant and Honorary Associate Professor in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health where his practice focuses on diagnosing children with rare multisystem disorders.

Richard trained in medicine at Cambridge University and University College London. He specialised in Paediatrics and subsequently Clinical Genetics in London and completed his PhD on childhood cancer syndromes at the Institute of Cancer Research.

Through his clinical practice and in his role at Genomics England he is passionate about harnessing the power of new genomic technologies for the benefit of all patients in mainstream healthcare.

Find out more about Genomics England by visiting their website.

Q: This will be CamRARE’s 5th summit. What is the most impactful and promising change you’ve seen happen in rare disease progress in the last 5 years? 

The inception of the new NHS Genomic Medicine Service. 

Q: How has your work impacted rare disease progress over the last 5 years?

We’ve been proud to work with the NHS and participants to deliver benefits for patients through the 100,000 Genomes Project and to support the delivery of a whole-genome sequencing service in mainstream NHS care. 

Q: What next? What do you want to see happen or change in the next 5 years that will have the most impact on diagnostics, care or treatment for those affected by rare conditions?

Genomics will move further into the mainstream and we will see increasing emphasis on the development of novel therapies for rare diseases – and the UK is well placed to be at the forefront of this.