What is this talk about?

Measuring nasal nitric oxide is an important component of diagnostic testing for primary ciliary dyskinesia. Anyone taking any physiological measurement should ideally follow a standardised method, so that results are comparable between different centres. Until recently there was no international standard for measuring nasal nitric oxide in young children.  

First we will present results of a global survey which demonstrated considerable variability of equipment, measurement methods and reporting. We will then discuss the recently published ERS Standards for measuring PCD in children which aims to address this problem. Our talk will be practical, with lots of examples to help you measure, interpret and report nasal nitric oxide in accordance with the ERS Standard; we’ll consider different aged children, and the commonly available analysers. We’ll aim to keep the session interactive with plenty of time for questions.

About the speakers:

Nicole Beydon and Jane Lucas led and chaired the recent ERS Task force that developed the standards for measuring nasal nitric oxide in children. Jane is Professor of Paediatric Respiratory Medicine at University of Southampton, and leads the national PCD Diagnostic service in Southampton. She also led the ERS Diagnostic Guidelines (2017) and founded and chaired BEATPCD (2014-19). Nicole is a paediatric pulmonologist involved in respiratory physiology and lung function testing for more than 10 years. She is the head of the paediatric department of Physiology-Lung function test and Sleep medicine at Armand Trousseau University Hospital in Paris. Since 2020, she is the chair of the 7.01 ERS group (Paediatric respiratory physiology & sleep).

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What is this talk about?

Dr Claire Jackson will be presenting on how functional cilia analysis is key to the appropriate interpretation of most PCD genetic variants. Molecular therapies are the most promising curative treatments for PCD, but we are not there yet.

About Dr Claire Jackson:

She is a Senior Research Fellow and primary ciliary dyskinesia (PCD) scientist at the University of Southampton, Faculty of Medicine and NIHR Southampton Biomedical Research Centre, based at University Hospital Southampton NHS Foundation Trust. Since 2007, Dr Jackson has experience in specialist PCD diagnostics, cilia imaging and 3D nasal epithelial cell modelling, she has developed a bio-resource of rare airway samples, tested the effects of drugs, bacterial and respiratory viral infections, and was instrumental in the discovery of short ACE2 isoform in airway epithelial cells. Dr Jackson is an active member of the international BEAT-PCD network and supporter of the PCD Support UK charity. Claire Jackson (0000-0002-1200-0935) (orcid.org).

Registration: Click here.

What is this talk about?

What are the psychological consequences of Primary Ciliary Dyskinesia and other respiratory diseases? What kind of psychological countermeasures can be provided to manage stress, anxiety, and for foster coping strategies? We will discuss how psychological and mind/body techniques can be an important support. One’s health isn’t just on the body level, but it is an integration of physical, psychological, and social aspects.

About Prof Francesco Pagnini:

Francesco Pagnini (Ph.D. in Clinical Psychology, Psy.D. in Integrated Psychotherapy) is a Professor of Clinical Psychology at Università Cattolica del Sacro Cuore, in Milan (Italy). For about 10 years, he worked as post-doctoral Associate at Harvard University, and has been visiting professor at Karolinska Institutet and the University of Cambridge. He is primarily interested in the study of how psychological components can influence physical aspects, with the aim to produce new psychological training that can help to change the course of physical illnesses. His work places particular emphasis on the concept of mindfulness. He has been a consultant for the European Space Agency and NASA about the application of psychological interventions for astronauts in deep space missions. Author of more than 140 articles in peer-reviewed journals, including JAMA, PNAS, Lancet Psychiatry, and Psychological Inquiry, he has received several competitive grants from national and international agencies.

Registration

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What is this talk about?

Diagnosing PCD relies on taking a ciliated cell biopsy from the airway epithelium that invariably is damaged by infection or inflammation. As a result, the cilia in the biopsy show features of secondary damage and their normal structure and function can be perturbed, making PCD diagnosis difficult. By eliminating infectious agents, isolating, propagating and differentiating the basal progenitor cells in-vitro, the secondary damage can be removed from the ciliated cells. This technique essentially cleanses the original biopsy. The primary air-liquid interface cell culture technique has been used to aid the diagnosis of PCD since 2007. Since then, many studies have investigated ways to improve the speed and extent of the ciliogenesis program in the cell cultures. The air-liquid interface technique, its development, advantages and pitfalls will be discussed.

About Dr Robert A. Hirst PhD:

Principal Scientist at the Centre for PCD diagnosis and research at the University of Leicester, UK. First to prove that the air-liquid interface cell culture technique can help with PCD diagnosis and has taught the technique to many centres worldwide. Has a degree in Applied Biochemistry (Liverpool) and a doctorate in Neuropharmacology (Leicester) and has been researching motile cilia for the past 25 years. Publications include over 90 peer-reviewed research papers, many in top tier scientific journals.

Registration:

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What is this talk about?

This session will provide insight into commonly used airway clearance techniques. It will explain the underpinning physiology for different regimens and other factors that physiotherapists consider when working with patients with PCD. The session will explore why one size does not fit all, and the challenges this poses for collecting data, either in clinical service reviews or in research. This session will be appropriate for people working within long term lung conditions. Physiotherapists are welcome to attend, however the session will be tailored to individuals who do not routinely advise patients about airway clearance techniques.

About Lynne Schofield:

Lynne is a children’s PCD physiotherapist in the UK and is currently undertaking a PhD. She qualified in 2004 and initially worked in Bradford, an area where PCD is more common than Cystic Fibrosis. When the English national children’s PCD management services were established in 2013, Lynne moved across to work in the North of England centre. Working with people with PCD and recognising the burden of daily airway clearance, Lynne was motivated to increase the evidence base guiding physiotherapy practice. Her initial research involved understanding the lived experiences of people with PCD and more recently, Lynne has secured funding to undertake a project exploring how the effects of airway clearance techniques are assessed in PCD.

Registration:

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What is this talk about?

PCD is a genetic disease with chronic upper and lower airway symptoms that are non-specific; therefore several tests are usually required to confirm the diagnosis. These tests are expensive, require expertise, and most of them are only available at specialised centres. 

 Countries with limited resources have significant challenges in diagnosing PCD cases. Although clinicians may choose to start basic treatments based on clinical suspicion, however, confirming the diagnosis according to international standards is necessary to participate in international registries, research and clinical trials.

 Dr Rumman will talk about her experience in diagnosing PCD cases in Palestine, the challenges, the opportunities, and highlight the importance of international collaborations.

About Dr Nisreen Rumman:

 Dr Rumman is a paediatric pulmonologist in Palestine. After receiving her pulmonary training in USA, she started clinical practice in her home country and was challenged by the large numbers of clinically suspected PCD cases. In 2015, she received an ERS short term fellowship to learn more about PCD diagnostics at Southampton PCD centre, and since then, she has been participating actively in international PCD meetings and collaborations. Through these collaborations, Dr Rumman was able to confirm diagnosis in her PCD patients and include them in international research projects.

Registration:

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The meeting link will be sent out 24 hours before the event!

What is this talk about?

When setting up a participatory cohort study in PCD, there are many aspects to consider:

Who should be invited to participate?

How can people participate, and will they participate?

How to involve patient representatives?

How long should the study last and what data should be collected?

How will the results be communicated?

Such questions must be considered before setting up a study to make sure that research questions can be answered with the least possible systematic bias. Dr Pedersen will talk about experiences from setting up the COVID-PCD study, an international participatory cohort study, and describe some results of the study. 

About Dr Eva Pedersen:

She is a postdoctoral researcher at the University of Bern. Dr Pedersen has a master’s degree in public health from the University of Copenhagen and a PhD in epidemiology from the University of Bern. During her PhD, she helped setting up the Swiss Paediatric Airway Cohort (SPAC), a national clinical cohort of children with respiratory disease. Since April 2020, her research is focused on PCD and with Prof Claudia Kuehni she set up the COVID-PCD study.

https://covid19pcd.ispm.ch/en/

Registration:

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The Meeting link will be sent out 24 hours before the event.

4th ECR-PCD Early Career Researcher Symposium: Genetics for PCD diagnosis: basics and pitfalls

Wednesday, July 7th, 2021

4 PM – 5:30 PM BST

5 PM – 6:30 PM CET

What is this talk about?

Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic condition as more than 50 genes have been implicated and as many mutations have been characterized in a single family. There is no single gold standard test to confirm PCD whose diagnosis is based on a combination of investigations. We will see the current genetic approaches (and their limits) in diagnostics and research. You will learn the basics for assessing the pathogenicity of a variant, in a diagnostic or research framework. Examples will illustrate frequent pitfalls and challenges in PCD genetics (e.g. variants of unknown significant, high frequency of PCD mutation carrier in the general population). You will learn how to use online tools to find the frequency of a variation in a population and how to assess if a specific amino-acid is conserved throughout evolution.

About Dr Marie Legendre:

Dr Marie Legendre is a molecular geneticist in Hôpital Trousseau in Paris. She oversees molecular and cellular diagnostics of several rare diseases such as developmental (pituitary deficits and midline defects) and respiratory disorders (surfactant disorders and PCD). She did her PhD in Human Genetics (Sorbonne Université, Paris). One of her main research topics focuses on motile ciliopathies: search for new disease-causing genes and phenotype/genotype correlations, with the aim to better understand the pathophysiology of this heterogeneous condition.

Registration:

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The Meeting link will be sent out 24 hours before the event!

What is this talk about?

The European Respiratory Society (ERS) offers different research fellowships for early career scientists and clinicians. Many of these programs give an opportunity to develop your own project and visit a research institution abroad to learn new research techniques that are not available at their home institution. Our PCD expert will give an overview of the ERS fellowships programmes focusing on short and long-term fellowships, explain the key elements and give hints about the application process. For more information about key deadlines and information:

https://www.ersnet.org/education-and-professional-development/funding-opportunities-fellowship-programmes/

The talk will take place on May 26th 2021 at 4 PM BST, 5 PM CET.

Dr Myrofora Goutaki is a medically trained clinical epidemiologist focused on PCD research. She is the co-head of the Swiss PCD registry and leads several PCD projects such as the international ENT PCD cohort study (EPIC-PCD) and she is the co-chair of the BEAT-PCD Clinical Research Collaboration. She has experience with the ERS research fellowship programme as an applicant (short-term ERS fellow) and as a reviewer (member of the ERS college of experts).

Registration:

https://www.eventbrite.co.uk/e/how-to-apply-successfully-for-an-ers-research-fellowship-by-dr-goutaki-tickets-151072721577

The Meeting link will be sent out 24 hours before the event!

We would like to create a friendly and supportive network where early career researchers (young clinicians with an interest in PCD, physios, nurses and postdocs in their first few years PCD) can meet every 2 months and present their research, hear about the work of other PhD students, learn key academic skills (applying for grant applications, writing publications etc.) and hear from seniors in the field.

Are you an early career researcher in PCD?

Join us on January 21st 2021 at 4PM (GMT) for our first virtual meeting where we will get to know each other and discuss how we can benefit from this group!

https://unibe-ch.zoom.us/j/98526755553

We hope that you can join us!