1st Crick Rare Diseases Conference 2022

Event Status: Book now : Event date: 28 February 2022
Start time: 09:00 End time: - 17:00
Event Location: The Francis Crick Institute
Event Type: Symposia

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

Programme. Timings are in GMT

Conference programme
09:00
Registration and coffee
09:25
Veronica Kinsler| Francis Crick Institute & UCL
Opening remarks
09:30
Professor Claire Booth |UCL
"Current state and future of gene therapy for primary immune deficiencies"
09:55
Professor Richard Thompson| King’s College London
"Molecular mechanisms of cholestasis; from genes to therapy"
10:20
Mr Neil Bulstrode | Great Ormond Street Hospital, London
"Ear Reconstruction today and the future"
10:45
Professor Uta Griesenbach | Imperial College London
"Gene therapy for rare respiratory diseases"
11:10
Refreshment break
11:40
Prof David Rees |King’s College, London
"Gene silencing in the management of acute porphyria"
12:05
Professor Manju Kurian | UCL
"Developing precision medicines for childhood neurological disorders"
12:30
Dr Melissa Riachi |The Francis Crick Institute, & UCL
"The role of cholesterol in rare inflammatory skin disease"
12:40
Dr Satyamaanasa Polubothu | Great Ormond Street Hospital, London
"Mosaic BRAF fusions are a recurrent cause of multiple congenital melanocytic naevi"
12:50
Prof John Achermann | UCL
“Translational genetics and disease mechanisms in adrenal insufficiency”
13:15
Lunch break and Qiagen workshop
14:30
Professor Liz Patton | University of Edinburgh
"Modelling Pigmentary Syndromes in Zebrafish through a Developmental Lens”
14:55
Prof Rickie Patani | The Francis Crick Institute & UCL
"Decoding cell type specific molecular aberrations in ALS using human stem cell models"
15:20
Refreshment break
15:50
Dr Neil Rajan | Newcastle University
"CYLD cutaneous syndrome: Discovery and delivery in a rare genetic skin disease ”
16:15
Prof Paolo de Coppi | UCL
“Extracellular matrix influence on cellular behaviour: implication for tissue regeneration”.
16:45
Closing remarks and end of meeting