Driving research, providing support and improving outcomes for patients and their families affected by rare conditions

Professor Stefan Marciniak

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“By understanding the true prevalence of Birt-Hogg-Dubé in the British population we’re better able to design services to meet their needs”

Professor Stefan Marciniak
Professor of Respiratory Science
University of Cambridge, UK

Determining the prevalence of pathogenic FLCN variants from large genomic registries
Research Summary

Birt-Hogg-Dubé syndrome is a rare inherited disorder that affects the lungs, skin and kidneys. The lungs of affected individuals can contain cysts (holes) that can burst to cause a punctured lung (pneumothorax). Patients with Birt-Hogg-Dubé syndrome are also at increased risk of developing kidney cancer later in life, but early diagnosis allows curative treatment; however, owing to its rarity the disorder is often overlooked. For example, when a patient suffers a pneumothorax in early adulthood, Birt-Hogg-Dubé syndrome tends not to be considered and so an opportunity to begin life-saving screening for kidney cancer is lost.

 To improve the care of patients with Birt-Hogg-Dubé syndrome and other genetic disorders that cause pneumothorax, NHS England has recently made Cambridge University Hospitals the lead centre for a new specialist service to investigate patients with inherited for a pneumothorax: the Familial Pneumothorax Rare Disease Collaborative Network. Although Birt-Hogg-Dubé syndrome is the most common cause of inherited pneumothorax, the true prevalence of the genetic disorder in the UK is unknown.

 We will analyse two large databases of DNA sequences of people in the UK: the 100,000 Genomes Project, in which NHS patients volunteered to have their DNA sequenced for research, and UK Biobank, which recruited healthy volunteers for genetic and other medical studies. By analysing hundreds of thousands of DNA sequences already stored in these two databases, we will generate the most accurate estimate of Birt-Hogg-Dubé in the UK to date. This will help shape the provision of medical services for patients with this rare disease.

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