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1st Crick Rare Diseases Conference 2022

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The Francis Crick Institute

1 Midland Road

London

NW1 1AT

United Kingdom

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Event description
To mark World Rare Diseases Day 2022 we are hosting our first Crick Conference highlighting the importance of the science of rare diseases.

About this event

Expert speakers are drawn from the Crick and our three partner universities, UCL, Kings and Imperial.

Registration is required but attendance is free. This will be a hybrid meeting with up to 200 participants able to attend in person at the Crick and the remainder joining on zoom. Zoom details will be sent out in advance of the event.

Use the #CrickRareDiseases

Draft programme

Session 1

9.00 -9.30 Registration and Welcome

9.30-9.55 Prof Claire Booth |UCL, "Current state and future of gene therapy for primary immune deficiencies"

9.55-10.20 Prof Richard Thompson| King’s College London, "Molecular mechanisms of cholestasis; from genes to therapy"

10.20-10.45 Mr Neil Bulstrode | Great Ormond Street Hospital, London TBC

10.45-11.10 Prof Uta Griesenbach | Imperial College London, "Gene therapy for rare respiratory diseases"

11.10-11.40 Refreshments

Session 2

11.40-12.05 Prof David Rees |King’s College, London , "Gene silencing in the management of acute porphyria"

12.05-12.30 Prof Manju Kurian | UCL "Developing precision medicines for childhood neurological disorders"

12.30-12.45 Dr Davide Zecchin |The Francis Crick Institute, & UCL "Functional dissection of GNAQ oncogenic mutations identifies potential targeted therapy in rare disease "

12-45-12.55 Dr Satyamaanasa Polubothu | Great Ormond Street Hospital, London "Mosaic BRAF fusions are a recurrent cause of multiple congenital melanocytic naevi"

12.55-13.20 Prof John Achermann | UCL "Translational genetics and disease mechanism "

13.20-14.20 Lunch break

Session 3

14.20-14.45 Prof Liz Patton | University of Edinburgh "New insights into rare genetic MAPK-pathway disease in zebrafish"

14.45-15.10 Prof Rickie Patani |UCL and The Francis Crick Institute, London, TBC

15.10-15.35 Dr Neil Rajan | Newcastle University TBC

15.35-16.05 Tea break

Session 4

16.05-16.35 Poster prize talk 1

Poster prize talk 2

Poster prize talk 3

16.35-17.00 Prof Paolo de Coppi | UCL TBC

17.00 End of meeting

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Date and time

Location

The Francis Crick Institute

1 Midland Road

London

NW1 1AT

United Kingdom

View Map

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Organiser The Francis Crick Institute

Organiser of 1st Crick Rare Diseases Conference 2022

The Francis Crick Institute is a biomedical discovery institute dedicated to understanding the scientific mechanisms of living things. Its work is helping to understand why disease develops and to find new ways to treat, diagnose and prevent illness such as cancer, heart disease, stroke, infections and neurodegenerative diseases.

By bringing together scientists from many disciplines, the Crick will have the scale, vision and expertise to tackle the most challenging scientific questions underpinning health and disease.

The Francis Crick Institute was founded by six of the UK's most successful scientific and academic organisations - the Medical Research Council (MRC), Cancer Research UK (CRUK), the Wellcome TrustUCL (University College London), Imperial College London and King's College London.

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