PCD Awareness Day 2018 Overview
To mark PCD awareness month, we convened Scotland-based cilia researchers, clinicians, families and advocates to talk together about emerging research, diagnostics and therapeutics for PCD, as well as the significant challenges that still exist for patients and families with PCD at the MRC Human Genetics Unit.
Primary ciliary dyskinesia (PCD) is a relatively 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 fertility. It is a life-long condition for which there is currently no cure.
A clinical presentation from Dr Kenneth MacLeod, Royal Hospital for Sick Children, highlighted the challenges in diagnosing and treating PCD. Talks from researchers across the University of Edinburgh highlighted some of the genes and molecular pathways that can lead to PCD, emphasising the importance of basic research using fruit flies, chicks and mice to better understand this rare and genetically diverse disease. Researchers outlined the potential impact of research on early genetic diagnosis and development of bespoke therapies, including genome editing. In the future, patients could have their genome sequenced and learn they have PCD, but go beyond just telling them they need to live with that genetic disorder, use this information to choose which technology to treat their mutation, possibly cure them. Dr Susanne Shanks of the PCD Family Support Group Scotland, gave a clear and frank presentation outlining her family story, including the long journey to diagnosis and the impact of PCD on daily and family life.
There was great discussion and exchanges throughout the day.