In collaboration with the PCD Family Support Group for Scotland, the MRC Human Genetics Unit and the University of Edinburgh are delighted to invite you to join us for a public-facing event to highlight primary ciliary dyskinesia (PCD) Awareness Month. PCD is one disease in a spectrum of rare genetic disorders, known as the ciliopathies, which affect the structure and function of cilia. In the case of PCD, it specifically affects motile cilia. PCD is very similar clinically to cystic fibrosis (CF), in that both severely impact on mucociliary clearance and airway health. However unlike CF where a single gene is affected, PCD can affect ~40 genes, which makes it very challenging to diagnose. It’s prevalence is difficult to determine as it is under-diagnosed and often diagnosed too late, something we would like to see changed.
Please join us to hear about our projects and research. In addition to lay talks about local work on these mysterious cilia, PCD disease mechanisms and gene discovery, we will also talk about a local pilot project for genetic diagnosis for PCD in Scottish families. We will also have a talk from the patient’s perspective, followed by hands-on activities like isolating DNA, genome editing and imaging, as well as Institute tours.
Date and Time:
Mon 29 October 2018
10:30 – 12:30 GMT
MRC Human Genetics Unit
Institute for Genetics and Molecular Medicine, University of Edinburgh
Crewe Road South
Please register using Eventbrite here.