MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

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Mill Lab shares research with families at primary ciliary dyskinesia support network event

To mark primary ciliary dyskinesia awareness month, the Mill Lab took their research and love for science to Glasgow for Scottish PCD Family Day: October 2019

colour in lung diagram

On Saturday 5 October 2019, the Mill Lab joined researchers, clinicians, physiotherapists, psychologists, families and advocates for the 2019 Scottish Primary Ciliary Dyskinesia (PCD) Family Day in Glasgow.

Primary ciliary dyskinesia (PCD) is a rare, genetic disorder resulting from abnormalities in cilia - the microscopic hair-like projections on the cell surface that have important functions, including beating to clear secretions from the lungs. People with PCD can have problems affecting their lungs, nose, sinuses, ears and their fertility. It is a life-long condition for which there is currently no cure. 

This day-long gathering allowed participants to discuss emerging research, diagnostics and care for PCD, as well as the significant challenges that still exist for patients and families living with PCD. This really was a day for the whole family - the team brought along an ‘Inside the Giant Cell’ activity as well as the very fun and messy ‘extracting DNA from strawberries’ and ‘colour-my-lung aprons’.

Informative clinical presentations from Dr James Chalmers (Consultant Respiratory Physician, School of Medicine, University of Dundee) highlighted the challenges in managing bronchiectasis - irreversible widening of airways - and from Dr Tash Kunanandam (Consultant Paediatric ENT Surgeon, Royal Hospital for Children Glasgow) on often neglected upper airways symptoms in PCD.

Anu Sironen (Mitchison lab, UCL GOSH, Institute for Child Health) spoke about molecular and cellular principles of male infertility in PCD.

Pleasantine Mill (MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh) spoke about the challenges of developing bespoke therapeutics for PCD and the increasing importance of genetic diagnosis in not only clinical management but also for access to these genome therapies - including genome editing as they come on line. Pleasantine presented her lab’s basic research towards optimizing genome editing technologies for robust, regulatable and safe in vivo uses for rare genetic diseases like PCD. Pleasantine’s presentation can be viewed via the link below.

Sessions involving children and teenagers living with PCD encouraged discussion about the psychological issues related to growing up with the disease, with an overview provided by Corine Driessens (University of Southampton) of her work to study these important issues.

Dr Anne Devenney (Paediatric Respiratory Consultant, Royal Hospital for Children, Glasgow) updated on her bid to have a national PCD diagnostic service for all ages in Scotland based in Glasgow, including genetics and advanced cilia imaging. The meeting then closed with a rousing Q&A session for the panellists which raised the issue of how research and care for PCD would be affected by Brexit.

The day was a valuable opportunity for patients, families, clinicians and researchers to bring their perspectives about this rare genetic disease together.

We were delighted to have Pleasantine, Peter and Fraser attend our PCD day. Since we first met them in October 2018 they have been a huge support to the work of the Scottish PCD Family Support and raising awareness in Scotland. Pleasantine’s talk was both fascinating and assuring for the families attending and the kids had the best fun engaging in the science activities with Peter and Fraser. Strawberry DNA was certainly a hot topic with the kids. Thank you! 

Patient with PCD

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