Difficult Diagnosis in Adult Cystic Fibrosis Patients

In this webinar, Dr Nicholas Simmonds explains that although for the vast majority of patients with cystic fibrosis the diagnosis is straight forward, for a very important minority there is not a very clear cut due to the wide spectrum of disease.

Dr Simmonds focuses on the importance of the right diagnosis from various perspectives such as genetic counselling, family planning and the treatment. He explores the wide spectrum of the Cystic Fibrosis disease (different phenotypes and different levels of the disease), and how these impact on the ability to diagnose patients. He also addresses the complicated genetics of certain patients, explaining how nasal potential difference (PD) may add value to diagnostic process, and illustrates all this with some case vignettes.

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• Dr Nicholas Simmonds

  Associate Director, Consultant Physician & Professor of Practice

  Read biography
  Dr Nicholas Simmonds

  Associate Director, Consultant Physician & Professor of Practice Adult Cystic Fibrosis Centre at Royal Brompton Hospital & National Heart and Lung Institute, Imperial College London

  Role and Location 

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

  Teaching:
  Professor Simmonds has an international reputation in this area. He has given state-of-the-art educational lectures at numerous symposia at national and international conferences/meetings. He is a regular teacher on the internationally renowned course ‘Managing the Care of Children and Adults with CF.’

  Research Interests

  Professor Simmonds’ research interests include CF survival variability, particularly variable CFTR gene/protein function. He is also an expert in clinical trials and trial development. He is a chief/principal investigator on numerous global multicentre trials. Professor 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.

  Memberships

  Professor Simmonds is an Executive Committee member of the ECFS Clinical Trials Network. He is the vice coordinator of the European CF Society (ECFS) Diagnostic Network Working Group and a member of the International Study Group of Ageing in CF (ISAC). He is also on the Registry Research Committee of the UK CF Registry, a role which promotes the use of registries to better understand outcomes in CF. Professor Simmonds is also a member of European CF Society and CF Canada – Research Advisory Council.