PCDresearch.org

Professor 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:

• Co-lead for the Congenital Anomalies cluster of the National Mouse Genetics Network, which aims to generate and characterise new mouse models of human congenital disorders. The cluster ultimately hopes to provide improved diagnoses and prognoses for patients with congenital anomalies.
• 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.

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 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 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.

Prof Ashworth 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. Prof Ashworth 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 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 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

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 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

Professor of Renal Medicine at Newcastle University. Consultant Nephrologist at the Freeman Hospital’s Renal Services Centre. John 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 kidney 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.

Professor Jane Lucas

Professor of Paediatric Respiratory Medicine at the University of Southampton. Lead Consultant of the nationally funded primary ciliary dyskinesia (PCD) centre in Southampton, providing a comprehensive diagnostic and management service for patients from South of England.

Research interests:

• Understanding, improved diagnosis and management of people with PCD.
• Chair of an ERS taskforce to develop a technical standard for measuring nasal nitric oxide in children.
• Co-founder of BEAT-PCD (COST Action) and chaired the network for 5 years.
• Chair of the European Respiratory PCD Task Force that developed evidence-based guidelines for the diagnosis of PCD and Work Group Lead in BESTCILIA (FP7) developing health-related quality of life questionnaires for PCD.

Dr Amjad Horani

Assistant Professor of Paediatrics, Cell Biology and Physiology, and Director of the PCD and Rare Lung Disease Program at Washington University and St. Louis Children’s Hospital.

Research interests:

• Airway epithelial cell differentiation and regulation of motile cilia with emphasis on factors affecting the assembly of motile cilia.
• PCD gene discovery and characterisation of novel genes using multi-ciliated airway cells and in-vitro model systems.
• Transcriptional regulation of airway and motile cilia.
• characterisation of pathogen transmission in patients with PCD.

Dr Myrofora Goutaki

Lecturer of clinical epidemiology, senior researcher and Principal Investigator at the Institute of Social and Preventive Medicine at the University of Bern, Switzerland. Chair of the ‘BEAT-PCD’ European Respiratory Society Clinical Research Collaboration. Chair of the paediatric respiratory epidemiology group of the European Respiratory Society.

Research interests:

• Understanding the phenotypical variability of PCD, including less commonly researched areas such as the upper airways.
• Studying short and long-term prognosis of PCD and identifying potential risk factors that influence it.
• Incorporating different sources of data for PCD (diagnostic information, clinical data, patient-reported information) available routinely or collected for research to improve disease characterisation; standardisation of PCD related data.
• Patient and public (PPI) involvement in PCD research.

Professor Philip Beales

Professor of Medical and Molecular Genetics at UCL and Great Ormond Street Hospital in London. NIHR Senior Investigator. Clinical geneticist at both Great Ormond Street Hospital for Children and St. Thomas’ Hospital, London. Elected fellow of the Academy of Medical Sciences in 2011.

Ardent supporter of endeavours to find funding solutions for very rare and ultra-rare diseases to advance therapies through to clinical approval. To this end, he has been a long-time champion for patients with rare conditions working as medical advisor to several organisations.

Research interests:

• Champion of rare/orphan diseases, best known for his research into and clinical characterisation of the ciliopathies.
• Led research culminating in novel gene discoveries for over 45 disorders.
• Member of the NICE Highly Specialised Technology committee to assess novel therapies for the NHS.
• Prof Beales’ lab undertakes research in translational science and therapeutics and has co-founded a new gene therapy spinout from UCL focussed on ciliopathies.
• Prof Beales has long recognised the importance of academia/healthcare-industry partnerships and to this end has co-founded several diagnostics and biotech start-ups.

Dr Marie Legendre

Clinical molecular geneticist, head of the Molecular Genetics department in Trousseau hospital in Paris, Sorbonne Université. Expertise in genetic tests and ciliary investigations to diagnose PCD. Member of the scientific committee of the French PCD support group. Co-chair of the ‘PCD research databases and collaborations’ effort of the BEAT-PCD European Respiratory Society Clinical Research Collaboration. Co-chair of the ClinGen Motile Ciliopathies  gene curation and variant curation expert panels. Member of the ClinGen Pulmonary working group.

Research interests:

• identification of new PCD genes and understanding of their function.
• development of in vitro cellular models to study PCD.
• phenotype-genotype correlations of PCD.
• improvement of molecular testing and sequencing data interpretation.

Professor Carlos Milla

Professor of paediatric pulmonary medicine and critical care medicine at Stanford Medicine Children’s Health. Associate Director for Translational Research, Centre for Excellence in Pulmonary Biology, Stanford University. Director, The Stanford Cystic Fibrosis Centre.

Research interests:

• Respiratory cell biology: focussed on mucociliary clearance dysfunction seen in Cystic Fibrosis (CF) and primary ciliary dyskinesia (PCD). This has included studies of ciliated cell biology and host-pathogen interactions that contribute to disease progression.
• Remote biochemical monitoring: established a strong interdisciplinary collaborative team to advance novel technological developments to allow for minimally invasive remote monitoring of biomarkers of importance in CF.
• Lung physiology in young children: focused on the understanding of the early events that drive the development of lung disease through the study of infants with CF identified by newborn screening. This includes the development of new diagnostic tools that permit the early detection of lung disease manifestations.
• Active programs for biomarker discovery for chronic pulmonary conditions such as PCD, pulmonary hypertension, chronic lung disease of infancy and interstitial lung disease.

Dr Deborah Morris-Rosendahl

Consultant Clinical Scientist, who heads the Clinical Genetics and Genomics Laboratory (CGGL) in the Royal Brompton and Harefield Hospitals, Guy’s and St. Thomas’ NHS Foundation Trust, UK.

Research interests:

• Scientific Director of the South East Genomics Laboratory Hub (SEGLH) and Scientific Lead for the Genomics Innovation Unit based at GSTT.
• Established the CGGL in the Royal Brompton Hospital in London in 2015, to specialise in the genetic diagnosis of inherited cardiac and respiratory conditions.
• Identification of new disease genes and more recently the identification of non-coding pathogenic variants in respiratory and cardiac rare diseases, using new technologies.
• Research projects aim to improve the diagnostic yield in Primary Ciliary Dyskinesia.

Professor Marianne Carlon

Assistant professor in precision medicine for chronic lung disease, appointed in the Laboratory of Respiratory Diseases and Thoracic Surgery (BREATHE), KU Leuven. Affiliated to the Center for Molecular Medicine, KU Leuven. Co-PI of the Leuven Viral Vector Core.

Research interests:

• Development of genetic therapies for cystic fibrosis, from mutation-agnostic gene addition using adeno-associated viral vectors, to precision CRISPR/Cas gene editing of drug-refractory CFTR mutations, in particular using base and prime editing.
• Focus on humanized in vitro models for translational testing of personalized medicine strategies, including patient-derived organoid models and primary airway cultures.
• Lead investigator on several CF patient association grants from the Belgian CF patient association/King Baudouin Foundation and from Emily’s Entourage, focused on the development of genetic therapies for cystic fibrosis.
• Co-inventor of two patents on innovative therapies to treat CF by stabilizing nanobodies or CRISPR-Cas12a.

Professor Thomas Ferkol, MD

Professor of Paediatrics and Chief of the Division of Pulmonology in the Department of Paediatrics, University of North Carolina, Chapel Hill, USA. Previously the Alexis Hartmann Professor of Paediatrics and Professor Cell Biology and Physiology. American Lung Association Edward Livingston Trudeau Scholar, recipient of the Cystic Fibrosis Foundation, and recipient of the LeRoy Matthew’s Physician-Scientist Award and Primary Ciliary Dyskinesia Foundation Founders Award.

Research interests:

• Development of cell and animal models to study primary ciliary dyskinesia and cystic fibrosis.
• Focused on defining genetic and molecular factors that contribute to chronic airway infection, inflammation, and epithelial injury (almost 30 years of continuous funding by the National Institutes of Health – NIH).
• Co-leads the NIH-supported Genetic Disorders of Mucociliary Clearance Consortium, an established, multi-centre collaborative that is defining the genetics and pathophysiology of inherited, suppurative lung diseases.
• Previously the President of the American Thoracic Society – only the second paediatrician to serve in this capacity during the 120-year history of the organisation.

Professor Israel Amirav

Paediatric Pulmonologist Paediatric Pulmonology Unit, Ichilov Tel-Aviv Med Centre and Adjunct Professor of Paediatrics, University of Alberta, Canada.

Research interests:

• Created the 1^st national consortium for PCD in Israel.
• Collaborator in international studies focused on PCD and cilia-related diseases.
• Developed a unique educational intervention on the science of aerosol therapy.
• 2001 he established the Israeli Society for aerosols in Medicine which is now an integral part of the Israeli Medical Association. 

Heidi Bjornson-Pennell (Chair)

Former barrister in the UK before moving to the United States and practicing as a public defender for over a decade. When two of her three children were diagnosed with PCD, Heidi left her career as a lawyer to support the efforts of the PCD Foundation, working to drive forward progress in PCD research, diagnosis and care. Heidi is honoured to support important efforts to drive collaboration and the development of treatments and cures for PCD in her role as Chair of the Scientific Advisory Panel for PCD Research.

Research interests:

• Leader of the Rare as One Project at the Chan Zuckerberg Initiative where she works to scale patient-driven efforts in advancing progress in rare disease.

Dr Katie Dexter (patient representative)

Dr Katie Dexter was diagnosed with Primary Ciliary Dyskinesia in her late teens after many years of misdiagnosis. Katie has a strong interest in science and research, and was awarded a PhD in Physics from the University of Leicester in 2018. She has worked in preclinical imaging research for a number of years, and now works in the Biomedical Imaging Unit at the University of Southampton.

Interests:

• Trustee and committee member of the PCD Support UK charity since 2019, focussing on communications and research.