NHS East Genomics Rare and Inherited Showcase recording - Wednesday10 July 2024

Full recording of our 2024 Rare and Inherited Conditions Genomics Showcase.
We were delighted to welcome over 400 delegates across three Showcase events. You can watch the other Showcases (Cancer & Prenatal and Paediatric) on our KZbin channel.
You can see our full agenda (with speakers) here:
www.eastgenomi...
And see our full slideset here:
www.eastgenomi...
To jump to speakers please see the timings below:
Welcome and Introduction - Prof Dick Sandford
00:00:00
How is genomics impacting rare and inherited disease? - Prof Guru Aithal
00:08:42
Norfolk and Waveney Familial Hypercholesterolaemia (FH) Pilot Testing Service - Dr Javier Gomez and Shelina Rajan
00:27:45
Genomics for all: Equity of access - Dr Kate Downes
00:49:18
Supporting Healthcare Professionals: Education and Training - Dr Gemma Chandratillake
01:05:30
Supporting Healthcare Staff: Rare Disease 101 - Dr Lucy McKay
01:14:00
Case Studies: Improving Services
Thinking beyond the scope: Co-creation plans for a holistic approach to managing Fragile X Syndrome - Prof Julian Barwell
01:30:20
Mainstreaming Genetic Testing in Ophthalmology at Nottingham University Hospitals: A Project Evaluation - Dr Maz O'Reilly
01:44:40
NHS and Coronial Sudden Unexpected Death (NHS-C-SUD) Programme - Prof Dick Sandford
01:54:57
Improving access to genomic testing and precision medicine - Aris Saoulidis
2:08:30
A view from our partners: Current and future priorities of Genetic Alliance UK and Cambridge Rare Diseases Network - Louise Fish and Jo Balfour
2:27:50
Patient Stories
My Fabry Disease - Loretta MacInness
2:50:51
Haemochromatosis: My Patient Journey - Chris Hind
03:04:39
Jo and James Sandy (Parents to Opal) in conversation with Dr Kate Downes
03:12:46