And that’s what happened when over 150 people attended the public evening, hosted by the NIHR BioResource for Translational Research and Cambridge Rare Disease Network, that took place on International Rare Disease Day.
Here you can find out what was discussed and see the event feedback and see the full Agenda and Biographies from the day.
Presentations from the evening
Click on the links below to view the audio and presentation slides for each talk.
- Welcome Address: Professor Patrick Chinnery, NIHR BioResource Co-Chair, Head of Department for Clinical Neurosciences, University of Cambridge
- Improving Patient Health in CNO and SAPHO: Dr Jagtar Singh Nijjar, NIHR Clinical Lecturer Lecture in Rheumatology, University of Cambridge
- Next Generation Children Project – Rapid Genome Sequencing for critically ill children: Dr Isabelle Delon,PhD, Clinical Scientist, EMEE Genomic Laboratory
- Imaging in the diagnosis of Rare Diseases: Dr Tomasz Matys, University Lecturer and Honorary Consultant in Radiology, Department of Radiology, University of Cambridge
- Whole Genome Sequencing for susceptibility to infectious disease,
potential for patient benefits:Dr James Thaventhiran, Consultant Clinical Immunologist, Department of Medicine, University of Cambridge (slides and audio are not available for this presentation) - Closing Address: Dr Nathalie Kingston, NIHR BioResource Director
