Register here

What is this session about?

Within the ERS BEAT-PCD Clinical Research Collaboration, the Work Package 7 (WP7) “Improving PCD diagnosis” team systematically reviewed the literature to identify studies that used artificial intelligence (AI) and/or digital-automated applications to improve screening, diagnosis and characterization of PCD.

During this session, Dr Claire Jackson and Dr Panayiotis Kouis will present the key findings of this review and highlight other WP7 activities.

About the Speakers:

Dr Claire Jackson has developed cilia imaging and advanced nasal epithelial cell modelling and a bio-resource of rare airway samples at Southampton since 2007. She has contributed >35 papers, 40 conference abstracts and a book chapter (>2300 citations) in PCD, ciliated epithelial cell biology and airway microbial infection. Dr Jackson’s current research is funded by Great Ormond Street Hospital Charity, Allergy Asthma & Immunology Research Charity, LifeArc and European/Italian Space Agencies. Dr Jackson leads WP7 Work Packages — BEAT-PCD  for the international ‘BEAT-PCD Clinical Research Collaboration’ network and has previously delivered expert Training — BEAT-PCD, and spoken at the British Thoracic Society Winter Meeting and University College London Rare Ciliopathies Symposium. She also supports patient education initiatives provided via PCD Support UK PCD Live!. 

Dr Panayiotis Kouis is a visiting Lecturer and a member of the Respiratory Physiology Laboratory at the Medical School of the University of Cyprus. He has been involved in PCD diagnostic testing since his PhD studies, and he is now co-chairing the BEAT-PCD WP7. He has background in evidence synthesis methodologies such as systematic review, meta-analysis and cost-effectiveness analysis, and participated in the development and adaptation of guidelines in the field of PCD and elsewhere. Dr Kouis recently delivered an WP7 ERS task force collaborative project to develop PCD patient/carer information on nasal nitric oxide testing for clinic distribution and patient support groups, based on the newly published standards Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard - PubMed. Panayiotis is currently developing multiple translations for wider clinical use in collaboration with patient support groups worldwide.

Register here

What is this session about?

We will hear about projects to improve PCD diagnostics by defining its underlying genetic causes. Two researchers involved in these developments will briefly overview the contribution of genetics to modern PCD diagnostics, and describe two important initiatives to improve genetic diagnostics: (1) the BEAT-PCD ClinGen collaboration which aims to better understand and curate the full complement of PCD genes and define what we consider a disease-causing variant; (2) CiliaVar, a freely accessible online catalogue of PCD-causing gene variants and their association with specific clinical features.

About the Speakers:

Hannah is a Professor of Molecular Medicine at University College London. Her research group uses PCD patient sequencing and functional studies to understand the molecular genetic basis of PCD, bronchiectasis and male infertility. Her lab develops PCD diagnostic gene panels and RNA-based genetic therapies for PCD. Hannah co-chairs the ClinGen ‘Motile Ciliopathy’ Expert Panel with Marie Legendre and is part of the BEAT-PCD Work Package 2 team working to develop the CiliaVar database. She is in the UK Cilia Network leadership team and is chair of Ciliopathy Alliance, interacting regularly with patient groups as a science advisor.

Mafalda is doing her PhD in the Mitchison Lab at University College London, where her research focuses on advancing the understanding of the genetic causes of PCD. Her work combines cell culture techniques and bioinformatics analyses to unravel the complex mechanisms underlying PCD. She has a background in variant and gene curation, developed through her MSc in Genomic Medicine at Imperial College London and her work experience at Genomics England and Veritas Genetics, where she analysed Next Generation Sequencing data for the diagnosis and screening of various inherited disorders.

Patient perspective: What’s needed for multidisciplinary PCD care?

Register Here

What is this session about?

This is a panel discussion where we will hear from an adult with PCD and a parent of a child with PCD sharing their thoughts on "What's needed for multidisciplinary PCD care?". We encourage people from all backgrounds to join. Therewill be opportunities to raise questions, make comments and discuss. 

About the Panel:

Emilie is a patient with PCD. She is 54 and discovered her pathology at the age of 45. Since then, Emilie has actively tried to understand better PCD, to try to manage it better. Since September 2022, she has been an active board member in the French association ADCP, and is currently in charge of research. Emilie is keen to participate personally also in research on PCD and try to devote some time to it, in addition to her full-time job at the European Commission, to being a mum of 2, to manage her PCD daily and above all to living a happy life!

Fiona is Mum to two adult children who both have (PCD). She chaired the PCD Support Group between 2005 and 2021 where she helped transform the care of patients with PCD in the UK and contributed to global change in diagnostics and management of PCD. She was awarded a British Empire Medal for raising awareness of PCD in the 2021 New Year’s Honours. Fiona also chaired the Respiratory Biomedical Research Patient Group at the Royal Brompton for many years.  And continues to represent patients on the Respiratory GeCip for the 100k Genomes project, European Lung Foundation,British Lung Foundation, Bronchiectasis UK as well as being  trustee of the Ciliopathy Alliance. Fiona has been a patient representative for a number of research projects and still take an active role in the following projects: Covid-19 and PCD,  the CLEAR Trial and very recently EMIRATES – a focus group for producing leaflets for thyroid cancer patients. She also regularly speaks to students about living with a genetic condition.

Adult PCD Clinical Cases

Register here

What is this session about?

During this interactive session, you will hear several interesting adult PCD clinical cases presented by early career researchers. For each case speakers will provide details on the patient’s present history, past history, diagnostic testing, and more exciting facts leading to final diagnostic outcome. Throughout there will be opportunities to raise questions, make comments and discuss.

About the Expert Moderator:

Natalie Lorent works as a consultant in Respiratory Medicine/Clinical Infectiology at the University Hospitals Leuven where she coordinates the care for adults with bronchiectasis and primary ciliary dyskinesia. She is also heavily involved in CF care and has a special interest in mycobacterial infections. She is an active member of the BEAT-PCD network and the focal point for ERN-LUNG for bronchiectasis and PCD at UZ Leuven.

Paediatric PCD Clinical Cases (17:30 CET)

Register here

What is this session about?

During this interactive session, you will hear several interesting paediatric PCD clinical cases presented by early career researchers. For each case speakers will provide details on the patient’s present history, past history, diagnostic testing, any other relevant information and final diagnostic outcome. Throughout there will be opportunities to raise questions, make comments and discuss.

About the Expert Moderator:

The session will be moderated by Dr Guillaume Thouvenin, a Paediatric Pulmonologist involved in PCD diagnostics and treatment for more than 10 years. He coordinates the CF and Rare Lung disease Center at Armand Trousseau University Hospital in Paris. He leads the French PCD workpackage group with Prof Bernard Maitre. He is also an active management member of the international BEAT-PCD network.

Fertility and PCD

Register HERE

What is this talk about?

We know little about fertility among people with primary ciliary dyskinesia (PCD). Prof Dr Sophie Christin-Maitre and Ms Leonie Schreck will give an overview of global infertility, its different causes and potential treatments, including the use and value of artificial reproductive technology for people with PCD and they will summarize current epidemiological evidence on the prevalence of infertility and ectopic pregnancies among people with PCD.

About the speakers:

Leonie Schreck is a medical doctor and PhD student at the University of Bern. She studies different topics important to people with PCD such as fertility, using questionnaire data directly collected from people with PCD. She manages the participatory study Living with PCD (formerly COVID-PCD) under the lead of Prof Claudia Kuehni. Living with PCD is an online study set up during the COVID-19 pandemic and enrols people with PCD from all over the world. The study team has recently sent out a fertility questionnaire to all participants and has collected information about fertility and fertility care from 384 people with PCD.

Sophie Christin-Maitre is MD, PhD, Professor of endocrinology in Sorbonne University, Paris, France. She is specialized in reproductive medicine. She is the head of the Endocrinology, Diabetes and Reproductive Medicine Unit in St Antoine hospital in Paris. She coordinates a center for patients with rare diseases, especially patients with primary ovarian insufficiency and Turner syndrome. She is vice-dean of student’s life in Sorbonne University.

Genotype-phenotype associations in PCD

Wednesday, October 4th 2023, 17:00 CEST

Register HERE

What is this talk about?

For this complex topic, we will have two PCD experts sharing their knowledge with us: Hannah Mitchison focusing on genotypes and Myrona Goutaki on phenotypes.

About the speakers:

Hannah Mitchison is a Professor of Molecular Medicine at University College London, working to understand the genetic basis of PCD using human genetics, model systems and functional studies, with recent focus on developing genetic therapies. Hannah leads in the UK Cilia Network, 100,000 Genomics Project GeCIP Subdomains and is a founder of the EMBO ‘CILIA’ Conference series. She co-chairs the ClinGen Motile Ciliopathy Gene Curation Expert Panel, also BEAT-PCD WP2 which aims to develop CiliaVar, the first online PCD gene variant database. She works with patient groups, including as chair of Ciliopathy Alliance and on the PCD Research science board.

Myrona Goutaki is a senior clinical epidemiologist at the University of Bern, working to understand the clinical variability and disease course of PCD, using data from collaborative cohort studies. She leads the EPIC-PCD cohort that focuses on upper airway disease and its associations with lower respiratory disease in people with PCD and several other projects, which use qualitative and quantitative methodological approaches to explore important questions raised by people with PCD and the PCD scientific community. She is the co-chair of the BEAT-PCD clinical research collaboration and the chair of the paediatric respiratory epidemiology group of the European Respiratory Society.

Live Stream here: BEAT-PCD/ERN-LUNG Meeting & Training school 2023 (lena.events)

Audience: Researchers, Clinicians, Scientists, AHPs and early career members with an interest in diagnosis and management of the inherited motile ciliopathy Primary ciliary dyskinesia.

Meeting Objectives:

• Update members of the PCD community on the latest research and European initiatives

• Provide opportunity  to get involved in shared projects and goals and build on important international collaborations, crucial in rare disease research

• Involve and encourage early career members in PCD research

• Learn from people with PCD about research priorities: patients are central to our objectives

Download the program here

What is this talk about?

Ear and sinus diseases in PCD are increasingly well-documented. However, recent reports have added knowledge of the specific features of ENT diseases in PCD. These data are useful for PCD diagnosis and need to be considered in PCD-specific management of patients.

About Prof Jean-François Papon:

Prof Papon has a PhD in respiratory physiology and is head of the ENT department in the academic hospital of Kremlin-Bicêtre, APHP, Paris-Saclay University. He is also the Vice-Chairman of the French Rhinologic Association and member of the scientific committee of the French PCD patient support group (ADCP). His department is a competence center for the diagnosis and treatment of PCD. Prof Papon has been working for 20 years on sinonasal diseases, he is a member of two research teams (INSERM- CNRS U955 and INSERM U933) working on respiratory biomechanics and genetics. Prof Papon is conducting multidisciplinary and international research on the clinical characterization of PCD disease and on genetics in PCD and chronic rhinosinusitis. He is also an active member of the international BEAT-PCD network.

Register here.

What is this talk about?

NOUS, is the on-site deep-learning system that is being trained to detect the difference between healthy and abnormal cilia in cases suspected of PCD using electron microscopy (EM) images. Different teaching approaches are being tested that include (i) Detection of cilia that are usable for diagnosis (ii) Classification of normal and abnormal cilia, (iii) second classification of abnormal cilia in classes of abnormalities. Over 20,000 EM images of cilia have been input to NOUS and it is showing consistently improved accuracy as the training datasets enlarge. When testing it against diagnostic specialists (n=5) using blinded image datasets, an agreement of >75% in the classification of images was found. This is similar to the agreement measured between individual diagnostic specialists. Furthermore, it is currently being trialled alongside the current diagnostic protocol in order to validate the system for clinical use.

About Dr Andreia Pinto:

She started as a biomedical scientist in histocellular pathology but early refined her area of interest in EM. Dr Pinto worked for more than ten years in Lisbon, solo managing an electron microscopy department, taking in fundamental to translational research. Since 2014, she has been working on PCD, in 2019 she joined the Royal Brompton as a thoracic research associate. Dr Pinto is currently teaching a deep machine learning platform to recognize patterns in EM images of cilia with the aim to roll it out as a tool (PCD-AID) in diagnosis. She has also been involved in investigating new insights of Sars-CoV2 infection of the respiratory airway.

Registration:

Click here.

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

What is this talk about?

The diagnosis of Primary Ciliary dyskinesia (PCD) can be confirmed by a hallmark defect of ciliary ultrastructure identified by transmission electron microscopy (TEM). Our expert will give an overview of the TEM technique, a guide to understanding a TEM report and highlight typical TEM findings which confirm a PCD diagnosis. The talk will cover challenges in diagnostic TEM, such as patients with normal ultrastructure and identification of defects which are secondary to infection. Finally the relationship between TEM and genotype, and advances in ciliary ultrastructural analysis will be highlighted.

About Dr Amelia Shoemark:

Dr Shoemark is Principal Investigator at the University of Dundee, Scotland and lead Clinical Scientist at the Royal Brompton Hospital in London with more than 20 years experience in diagnostic testing for PCD. She led the TEM section of the ERS PCD diagnostic guideline and more recently headed the team who developed an international consensus statement for PCD diagnosis by TEM. She is co-chair of the BEAT-PCD European Respiratory Society Clinical Research Collaboration. Dr Shoemark holds grants to improve TEM as a diagnostic tool through 3D electron tomography and artificial intelligence.

Registration:

Click here.

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

Dr Mathieu Bottier will be the first presenter in the series of Early Career Researchers in PCD (ECR-PCD) Expert Talks. Dr Bottier has considerable experience in cilia beating mechanisms and waveform analysis and is currently working as a postdoctoral researcher at the University of Dundee.

The talk will take place 31st March 2021 at 4PM GMT via ZOOM.

Join us!

Meeting ID: 985 2675 5553

Passcode: 498399

https://unibe-ch.zoom.us/j/98526755553?pwd=TXA5d1Q5cW56cU0vNFdSemxsenR3dz09