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Put over 150 passionate and motivated people together to talk about rare disease research and you can expect a fascinating evening. 

That’s just what happened at the recent public evening, hosted by Cambridge Rare Disease Network in collaboration with the NIHR BioResource for Translational Research at Addenbrooke’s Hospital to mark International Rare Disease Day 2019.

Short research talks were followed by a Q+A panel facilitated by Dr. Gemma ChandratillakeCRDN Trustee (pictured left)

Full agenda and biographies from the day. Click on the links below to view the audio and presentation slides for each talk.

Welcome Address
Prof. 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 Nijar
NIHR Clinical Lecturer in Rheumatology, University of Cambridge

Whole Genome Sequencing for susceptibility to infectious disease
Dr. James Thaventhiran
Consultant Clinical Immunologist, University of Cambridge (slides and audio not available)

Next Generation Children Project – Rapid Genome Sequencing for critically ill children
Dr. Isabelle Delon  Clinical Scientist, EMEE Genomic Laboratory

Imaging in the diagnosis of Rare Diseases
Dr. Tomasz Matys
University Lecturer and Honorary Consultant in Radiology, University of Cambridge

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