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

15.20-15.50 Tea break

Session 4

15.50-16.15 Dr Neil Rajan | Newcastle University TBC

16.15-16:40 Prof Paolo de Coppi | UCL TBC

16:45 Closing remarks and end of meeting