The discovery of ReNU syndrome
This event brings together key people involved in the discovery of ReNU syndrome, a condition affecting development and learning which was first identified last year yet potentially impacts tens of thousands of families across the world.
Hearing from experts involved in the discovery, this event will reflect on the importance of genomic diagnosis for rare conditions and the factors necessary both to identify new conditions, and to learn about what they might mean for patients and families.
Please be aware the focus of the evening will be around the discovery process and the broader implications of receiving a genetic diagnosis, rather than specific practical implications of a ReNU syndrome diagnosis. Where speakers give permission, talks will be available on our website shortly after the event.
This is an in-person event, please only sign up if you are able to attend the event at St Anne’s College.
| 17:30 | The discovery of ReNU syndrome: an overview | Dr Nicola Whiffin Associate Professor and Group Leader at the Big Data Institute and Centre for Human Genetics, University of Oxford |
| 17:45 | Discovering RNU4-2 variants | Yuyang Chen DPhil student, Computational Rare Disease Genomics Group, University of Oxford |
| 17:55 | Clarifying the clinical picture of ReNU syndrome and looking to the future | Professor Stephan Sanders Professor of Paediatric Neurogenetics, Department of Paediatrics, University of Oxford |
| 18:05 | The clinical – research interface: returning results to families | Dr Susan Walker Director of Translational Genomics, Genomics England |
| 18:15 | How the discovery of ReNU syndrome is impacting patients and families | Dr Sarah Wynn Chief Executive Officer, Unique |
| 18:30 | Questions/discussion |
The questions will be followed by a drinks reception until 19:30.
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