Scientific Advisory Board

We are in the process of establishing a global Scientific Advisory Board (SAB), to ensure our scientific strategy of improving health in PCD. The SAB comprises of world experts in PCD and basic science. All grant applications will be ratified by the SAB to enable the most promising research in PCD to be funded.

To apply to be a member of the SAB, please contact us.

Dr Amelia Shoemark primary ciliary dyskinesia research

Dr Amelia Shoemark

Principal Investigator at the University of Dundee, Scotland and lead Clinical Scientist at the Royal Brompton Hospital in London. Chair of the ‘BEAT-PCD’ European Respiratory Society Clinical Research Collaboration and workpackage lead for the European Bronchiectasis Clinical Research Collaboration (EMBARC).

PCD research interests:

  • translational research into diagnosis and characterisation of genetic defects in PCD
  • understanding the role of mucociliary clearance in the development of bronchiectasis in children and adults.

Professor Alan Ashworth research

Professor Alan Ashworth PhD FRS

Professor Alan Ashworth is President of the Helen Diller Family Comprehensive Cancer Center at University of California, San Francisco and Senior Vice President for clinical services, UCSF Health.

Alan was a key member of the team that discovered the BRCA2 gene. His laboratory identified a way to exploit genetic weaknesses (using synthetic lethality) in cancer cells with mutated BRCA1 or 2 genes, leading to a new approach to cancer treatment, PARP inhibition (4 PARP inhibitors have been approved by the FDA). This work was named by Nature in the top 20 discoveries in cancer in the 21st century. Alan has received a number of awards and prizes many of which recognise the innovative and translational nature of his work as well as its clinical impact.

Research interests:

  • develop new treatments for cancer using genetic principles

Professor Hannah Mitchison primary ciliary dyskinesia research

Professor Hannah Mitchison

Professor of Molecular Medicine, Cilia Disorders Section, Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health. Trustee of the Ciliopathy Alliance and Leadership team of the UK Cilia Network.

PCD research interests:

  • Genetic and genomic approaches to improve diagnosis of primary ciliary dyskinesia, including through the 100,000 Genomes Project
  • Developing functional pipelines and model systems for analysis of disease genes causing primary ciliary dyskinesia
  • Development of novel RNA and antisense technologies for treatment of primary ciliary dyskinesia
  • Understanding the contribution of sperm and cilia defects to male infertility in primary ciliary dyskinesia

Professor Claire Hogg primary ciliary dyskinesia research

Professor Claire Hogg

Consultant in Paediatric Respiratory Medicine, Royal Brompton Hospital & Professor of Practice, Imperial College London. Her research and educational commitments led to her nomination and successful award as a Fellow of the European Respiratory Society [FERS].

PCD research interests:

  • Focus on the research & development of novel diagnostic tests for PCD. 
  • National Institute for Health Research (NIHR) post-doctoral fellowship grants to advance her team’s research interests in 3D electron tomography of human cilia staining and then development of machine learning tools to improve accuracy and speed of PCD testing.

Professor Stephen Hart primary ciliary dyskinesia research

Professor Stephen Hart

Professor in Molecular Genetics, Deputy Head of Genetics and Genomic Medicines Programme, UCL Great Ormond Street Institute of Child Health

PCD research interests:

  • development of RNA and gene editing therapies, for the treatment of cystic fibrosis and primary ciliary dyskinesias
  • developed novel synthetic nanoparticles for the delivery of nucleic acid therapeutics including siRNA, messenger RNA and CRISPR/Cas9 formulations
  • lead investigator on a Strategic Research Centre grant funded by the Cystic Fibrosis Trust, developing CRISPR gene editing therapies for cystic fibrosis.
  • He is the named inventor on nine patents concerning nanoparticle delivery formulations and was the scientific founder of Nanogenic Solutions Ltd, a UCL spin-out company, commercialising nanoparticle delivery formulations for genetic therapies.

Professor Michael Loebinger

Consultant Respiratory Physician at the Royal Brompton Hospital, and Lead of the Respiratory Infection Service. MRC Investigator at the MRC Human Genetics Unit at the University of Edinburgh. Member of the leadership team at the UK Cilia Network.

Research interests:

  • Specialist in respiratory infections, bronchiectasis, PCD and non-tuberculous mycobacteria (NTM).
  • Co-chaired the British Thoracic Society (BTS) bronchiectasis guidelines.
  • Co-wrote the BTS NTM and European Respiratory Society (ERS) bronchiectasis guidelines.
  • Founding member of the UK and European clinical and research bronchiectasis and NTM networks and leads global multicentre clinical trials.
  • Chaired the infection special advisory group for the BTS (2013-2016) and was secretary (2017-2020).
  • Chair of the ERS Respiratory Infection Group.
  • Previously clinical lead for the PCD Adult Service NHS England commissioning.

Professor Chris O'Callaghan primary ciliary dyskinesia research

Professor Chris O’Callaghan

Professor of Respiratory and Paediatric Medicine, Head of Respiratory, Critical Care and Anaesthesia section at the UCL Great Ormond Street Hospital Institute of Child Health

PCD research interests:

  • Overcoming genetic nonsense mutations in PCD
  • Inflammatory effects of PCD in children and adults
  • Established the ‘Living Airway Biobank’ of respiratory epithelium from children and adults with respiratory disease.

Dr Pleasantine Mill primary ciliary dyskinesia

Dr Pleasantine Mill

MRC Investigator at the MRC Human Genetics Unit at the University of Edinburgh. Member of the leadership team at the UK Cilia Network.

Research interests:

  • Phenotype-driven projects which disrupt cilia structure and / or function to undercover underlying genetic changes, understand disease mechanisms and move towards much needed therapeutics for rare disease.
  • Use quantitative imaging across biological scales (from light microscopy through to electron microscopy) to understand how different types of mammalian cilia are assembled and maintained, and how they are disrupted by disease-causing mutations.
  • Utilise genome engineering to mimic patient variants into the genomes of mice to build preclinical mouse models of PCD for translational research and are developing the application of genome editing technologies to correct these patient variants in vivo for “genome surgery” for rare diseases like PCD.

Dr Siobhan Carr

Paediatric Respiratory Consultant with a special interest in chronic suppurative lung disease, Royal Brompton Hospital. Professor of Practice in Paediatric Respiratory Medicine in the National Heart and Lung Institute, Imperial College, London.

Research interests:

  • Chair of the UK CF Registry
  • Chair of the European CF Society Patient Registry Scientific Committee
  • Advisory board member of Public Health England’s CF newborn screening (NBS)
  • Member of the ERN-Lung PCD core group, PCD-CTN
  • ERN PCD Registry group member.
  • Epidemiological studies using registry and linked data and patient reported outcome studies.
  • Part of the trial management group for CF STORM and CF START, both HTA randomised control trials in CF.

Professor John Sayer Primary ciliary dyskinesia research

Professor John Sayer

Professor of Renal Medicine at Newcastle University. Consultant Nephrologist at the Freeman Hospital’s Renal Services Centre. He has a particular interest in inherited kidney diseases and renal stone disease.

Research interests:

  • Specialist interest in inherited kidney disease and renal stone disease, in particular cystic kidney disease, Fabry disease, Alport syndrome, tubulopathies and kiney stone disorders.
  • Chair of regional renal genetics clinic and family renal genetics clinic.
  • Within the Translational and Clinical Research Institute at Newcastle University, Professor Sayer’s laboratory studies focus on renal genetics, cystic kidney disease, renal ciliopathies and renal stone formation.
  • Utilisation of physiological and genetic techniques to investigate these conditions and find new therapies.