Primary ciliary dyskinesia
One Generation Study participant family from London joined the study after a midwifery appointment, where they were given a leaflet explaining how by taking part, they could screen their newborn for around 200 rare conditions. Shortly after being born, they received a result from the study, confirming their daughter had genetic changes associated with a condition called primary ciliary dyskinesia (PCD).
About PCD
PCD is an inherited genetic disorder that affects the lungs and airways. Patients with the condition are prone to lung infections and it can cause deterioration over time. Treatments for the condition include physiotherapy to clear the airways, breathing with a nebuliser to thin the mucus and taking targeted antibiotics when needed.
Around 1 in 7,500 people in the UK
are affected by PCD
It is caused by
abnormal motile cilia (microscopic hairs that help remove mucus from the airways)
Their story
A couple from London were offered the opportunity to join the Generation Study shortly before their baby was born in the summer of 2025. For the dad, who already manages his own hereditary condition, the decision “felt like a no-brainer.”
“I’ve always sort of been of the opinion that it’s better to know and be upfront and deal with things,” he says.
However, when the family received a call from the study team, informing them that their daughter had genetic changes associated with a condition called Primary Ciliary Dyskinesia (PCD), it came as a surprise.
“It was probably the worst day of my life,” says the mum. “But from there, the speed of what took place was really good. I got a call in the afternoon, and then we had already set up an appointment for the next morning, giving us clear information and support from the start.”
PCD is a condition that affects the airways and lungs, preventing the removal of mucus from the respiratory tract. It can lead to frequent lung infections, hearing problems and breathing issues.
Early diagnosis meant their daughter could begin treatment right away, after referral to the specialist team at a hospital in London.
“She had an early lung issue, spotted on her first X‑ray,” says mum. “But with the introduction of physiotherapy and thanks to picking it up early, we were able to reverse that before more damage could occur – something we might not have been able to do without the being a part of the study.”
Since then, the family has received what they describe as exceptional care from the specialist PCD team. “From daily support calls to home visits, we feel fully supported. We have a team of people invested in our baby’s health. I don’t really know what more you could ask for,” adds dad.
Both parents now hope to see that the long-term benefits from early diagnosis mean that their daughter will grow up with strong lungs and be able to avoid some of the worst impacts of the condition – something that might not have happened if not picked up through genomic testing.