We had an exciting morning to talk about cilia, cell biology & clinical genetics in PCD. We heard about how this is helping us develop new therapeutic strategies for this rare genetic condition, and why research is so important to helping PCD patients and their families access earlier diagnosis and specialist care. People came to see the space and meet the researchers making this work possible- look down a microscope at cilia beat, scan DNA for disease causing mutations and walk inside a cell.

Date: Monday, October 29th 2018 Place: MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh Time: 10:30 – 12:30

  10:15 - 10:30    Arrival

10:30 – 10:35    Welcome , Dr Pleasantine Mill, Group Leader, MRC HGU, University of Edinburgh

10:35 - 10:45    Research talk, Dr Megan Davey, Group Leader, The Roslin Institute, University of Edinburgh ‘TALPID3 involvement in Ciliopathies’.

10:45 – 10:55    Research talk, Prof Andy Jarman, Group Leader, Centre for Discovery Brain Sciences, University of Edinburgh ‘Fruit flies with PCD - what can we learn from them’.

10:55 – 11:05    Research talk, Daniel Dodd, PhD candidate, MRC Human Genetics Unit, University of Edinburgh ‘Assembly of Moving Parts- PCD disease modelling in mice’.

11:05 – 11:10    Clinical talk, Dr Kenneth Macleod, Consultant Respiratory Paediatrician, Royal Hospital for Sick Children Edinburgh, ‘Clinical challenges for PCD’. 

11:10 – 11:20    Research talk, Dr Holly Black, postdoctoral fellow, Centre for Genetics and Experimental Medicine, University of Edinburgh ‘Genetic Diagnosis of Primary Ciliary Dyskinesia’.

11:20 - 11:30 Research talk, Dr Peter Tennant, postdoctoral fellow, MRC Human Genetics Unit, University of Edinburgh ‘Genome Editing: The Potential for New PCD Therapies’.

11:30 - 11:40    Patient-perspective talk, Dr Susanne Shanks, PCD Family Support Group Scotland, ‘Living with PCD – a mother’s perspective; working with PCD – the support group’s focus’.

11:40 - 11:45    Discussion and Concluding Remarks, Dr Pleasantine Mill, MRC HGU, University of Edinburgh

11:45 – 12:30    Hands-on activities and tours