CF diagnosis and CFTR function: what are we sweating about?

This Grand Round delivered by Professor Nicholas Simmonds covers Cystic Fibrosis diagnosis and CFTR function.

• Pathopysiology
• Diagnostic pathway and uncertainties
• CFTR functional tests
• Case examples
• CFTR related disorders
• Future directions

Professor Nicholas Simmonds is associate director and consultant physician of the Adult Cystic Fibrosis Centre at Royal Brompton, and professor of practice (respiratory medicine) at the National Heart and Lung Institute, Imperial College London.

Professor Nicholas Simmonds is an expert in the care and management of adults with cystic fibrosis (CF). He is also, a leading expert in the difficult diagnosis of possible CF cases, leading a state-of-the-art national diagnostic service, Difficult CF Diagnosis Clinic, encompassing techniques such as nasal potential difference measurement, sweat testing and extended gene analysis. He is also the vice coordinator of the European CF Society (ECFS) Diagnostic Network Working Group.

Professor Nicholas Simmonds’ research interests include CF survival variability, particularly variable CFTR gene/protein function. He is also an expert in clinical trials and trial development and is an Executive Committee member of the ECFS Clinical Trial Network.