Following the cancelation of WAS2020 due to the COVID19 pandemic, we are happy to announce that The 3rd International WAS symposium will take place on Friday March 18th, 2022 in Munich, Germany. This event will precede the EBMT2022 and will enable researchers and clinicians to meet, present and discuss their work in the area of WAS and WASp research. More details about the event are available at www.was2022.org
We are planning a series of sessions, keynote presentations and panel discussions. Our objectives for the symposium are simple, yet bold. We hope to attract researchers and clinicians from around the world to:
Expand WAS/WASp research.
Bridge the gap between basic and clinical research to speed up applications
Foster collaboration among researchers.
Motivate young researchers to focus on WAS/WASp
We invite you to participate at the symposium and be updated with the most recent knowledge regarding Wiskott Aldrich Syndrome.
For additional information or any clarification needed, please send us E-mail at: firstname.lastname@example.org
Looking forward hearing from you and seeing you at the symposium.
WAS 2022 Organizing committee Prof. Michael Albert, Prof. Adrian Thrasher, Prof. Bobby Gaspar, Prof. Anna Villa, Dr. Sumathi Iyengar, Mr. Amir Kedar.
The conference will highlight and discuss conceptual shifts in basic and translational immunology, infection immunity, immunodeficiency and autoimmunity. It will take place at the University Building KG I located in the heart of Freiburg just a few minutes from the main railway station, hotels and restaurants.
The organizing committee is compiling an exciting scientific program with plenary sessions held by internationally renowned speakers complemented by selected short talks from young scientists.
We cordially invite everyone to join us in Freiburg for this exciting meeting. All Freiburg’ immunologists are looking forward to welcome you to our city with the charm of a small historic town in the heart of the famous Black Forest. We hope to make this special conference a memorable event! Sincerely yours,
Maike Hofmann, Kathrin Kierdorf, Susana Minguet and Marta Rizzi
Since 2015, August has been Internationally recognized as Autoinflammatory Awareness Month.
The “Shine a Light on Autoinflammatory Diseases” theme is to help raise awareness to shine a light on rare autoinflammatory diseases. Wherever you are, you can make a difference this month to improve understanding, hope and. care for patients with autoinfammatory diseases. Earlier diagnosis and treatment can greatly change, and in some cases, save lifes.
Find more information about the supporting events in 2021 here.
(Vienna, 30.06.2021) A detailed vocabulary to identify and explore rare, congenital immune disorders around the world? That is exactly what is now available thanks to a new study led by the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases in Vienna and the University Medical Center Groningen. Congenital immune disorders often affect only a handful of children around the world. The now published expansion of the nomenclature allows us to better analyze, identify, and treat these diseases.
When a child in Austria falls ill with a rare immunodeficiency, their treating physician will often like to know experience with similar cases around the world. Has there ever been such a case or a similar one before? What has been the experience with treatment of the other patient? But even if a child in – for example – Japan suffers from exactly the same disease, the treating physicians probably never get to know about each other. Researchers at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) strive to change that. “To identify and eventually treat children with rare diseases, there needs to be a global exchange between researchers and physicians. This exchange can only be successful if everyone speaks the same language, and describes diseases in a uniform way, and if local registries are internationally interconnected,” explains Kaan Boztug, Director at the LBI-RUD and Scientific Director of the St. Anna Children’s Cancer Research Institute.
You only find what you can name Boztug’s research group at the LBI-RUD, together with the group of Marielle van Gijn, group leader at the University Medical Center Groningen, have therefore brought together relevant partners around the world and leading medical societies in the field of immune diseases including the European Society for Immunodeficiencies (ESID) and the European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN-RITA) to further develop the so-called Human Phenotype Ontology (HPO). The HPO is a kind of language, providing a standardized vocabulary for clinical changes in the human body associated with individual diseases. ”We got in touch with Peter Robinson, who originally developed HPO, and for the first time systematically expanded the vocabulary to describe immunological diseases. We have described symptoms of rare, congenital immune disorders more precisely and in greater detail to enable uniform diagnoses worldwide,” says Matthias Haimel, co-first author of the study and bioinformatician in the research group of Christoph Bock at LBI-RUD and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences. “Until now, different terms have been applied in different countries for the same disease and its symptoms,” explains Julia Pazmandi, co-first author of the study and PhD student in Kaan Boztug’s research group. Kaan Boztug adds, “Only what you can name can be found. At the same time, an accurate description helps to discover new diseases and gene mutations.”
HPO includes 2,120 rare diseases, of which congenital immune disorders form a subgroup. For the latter, HPO has not been specific enough and therefore has hardly been used in the expert community. To change this, leading researchers and clinicians in the field have met regularly both in Vienna and virtually to revise and expand the terms of four disease groups relevant to congenital immune disorders within the HPO. New terms such as “recurrent fever” or “unusual infections” were added. To accomplish this, selected articles were analyzed for technical terms using machine learning, which were then assigned as correct or incorrect by experts in a review process.
Top 10 ranking narrows down the diagnosis To showcase the efficiency of their expansion of HPO terms for immune defects, the researchers analyzed 30 patients from a database. HPO terms were assigned to disease entities and based on this, the similarity to all previously revised HPO diseases was calculated. In most cases, the correct diagnosis was found in the top 10 diseases calculated for each symptom. “Artificial intelligence now makes it easier to assign certain symptoms to a rare disease. It is impossible for doctors nowadays to know about every rare disease. Further, some immune disorders are very similar to each other. Patients could thus be spared years of searching for their correct diagnosis. In this way, treatment can be initiated earlier and the outcome may be improved”, says Boztug.
Matthias Haimel adds: “In our study, we use machine learning to narrow down the selection of possible diagnoses for patients and to retrieve the full spectrum of terms from the literature at the touch of a button. The same process could be applied to unstructured clinical notes. Abnormal clinical values in medical records could thus be automatically translated into HPO codes, promoting more accurate diagnosis.”
International Collaboration – The key to rare diseases Identifying at least a few individuals worldwide suffering from the same disease is often critical to gain insight into typical manifestations. The now expanded and reannotated HPO terms allow for a better description of symptoms and enable the creation of an electronic disease profile. Efficiently sharing such anonymized disease profiles across institutions and borders is a major challenge. Platforms facilitating this are already being used by the LBI-RUD as part of the Undiagnosed Diseases Network International (UDNI) with the ultimate goal to cure patients with rare diseases.
The present work is based on an international collaboration, led by the LBI-RUD and the University Medical Center Groningen (The Netherlands), consisting of physicians, researchers, geneticists, and bioinformaticians. In total, more than 30 experts were involved over a period of two years. The project was conducted in collaboration with three of the world’s leading medical societies in the field of immune diseases, namely the European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN-RITA), the European Society for Immunodeficiencies (ESID), and the International Society for Systemic Autoinflammatory Diseases (ISSAID).
About Human Phenotype Ontology The Human Phenotype Ontology (HPO) includes a broad vocabulary to describe diseases and serves as a tool to communicate in the field of rare diseases. The HPO currently contains approximately 200,000 annotations to describe inheritable diseases, of which 2,120 are considered rare diseases. In the area of congenital immune disorders, clear and understandable descriptions have been lacking so far. Despite ongoing efforts, there are still crucial gaps in the HPO disease ontology to describe the entire clinical picture of rare immunological diseases.
About rare diseases In Austria alone, approximately 400,000 people suffer from a rare disease. A disease is considered rare if it affects less than one in 2,000 people. Thus, although there is a large number of people suffering from a rare disease, there are only a few with the same specific disease. This leads to an enormous delay in the diagnosis and treatment of affected patients. If one wants to study rare diseases, a worldwide search for similar cases is necessary, which is often difficult.
Publication: Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity
Matthias Haimel*, Julia Pazmandi*, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul van Daele, Tracy A. Briggs, Carine Wouters, Brigitte Bader-Meunier, Florence A. Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beata Derfalvi, Francesco Saettini, Maaike A. A. Kusters, Reem Elfeky, Johannes Trück, Jacques G. Rivière, Mirjam van der Burg, Marco Gattorno, Markus G. Seidel, Siobhan Burns, Klaus Warnatz, Fabian Hauck, Paul Brogan, Kimberly C. Gilmour, Catharina Schuetz, Anna Simon, Christoph Bock, Sophie Hambleton, Esther de Vries, Peter Robinson, Marielle van Gijn†#, Kaan Boztug†#
* and †, these authors contributed equally
# to whom correspondence should be addressed: Kaan Boztug, Marielle Van Gijn
Funding: This study was supported by the European Research Council. Additional financial support for the workshops was granted by the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), the European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN-RITA), and the European Society for Immunodeficiencies (ESID).
About the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) LBI-RUD was founded in April 2016 in a joint effort of Ludwig Boltzmann Gesellschaft, CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Medical University of Vienna, and St. Anna Children’s Cancer Research Institute. The three founding partner institutions, and CeRUD Vienna Center for Rare and Undiagnosed Diseases, constitute LBI-RUD’s most important collaboration partners. Research at LBI-RUD focuses on the deciphering of rare immunological, hematopoietic, nervous, dermal, gastro-intestinal, and hepatic diseases. Those studies provide unique insights into human biology and are the basis for the development of tailored therapeutic concepts in the sense of the personalized medicine of the future. The mission of LBI-RUD is – together with its partner institutions – to sustainably develop and maintain research infrastructure integrating scientific, societal, ethical, and economical aspects of rare diseases. www.rare-diseases.at
About the St. Anna Children’s Cancer Research Institute, CCRI St. Anna CCRI is an internationally renowned multidisciplinary research institution with the aim to develop and optimize diagnostic, prognostic, and therapeutic strategies for the treatment of children and adolescents with cancer. Closely collaborating with St. Anna Children’s Hospital and other institutions worldwide, St. Anna CCRI combines basic research with translational and clinical research and focuses on the specific characteristics of childhood tumor diseases in order to provide young patients with the best possible and most innovative therapies. Dedicated research groups in the fields of tumor genomics and epigenomics, immunology, molecular biology, cell biology, bioinformatics and clinical research are working together to harmonize scientific findings with the clinical needs of physicians to ultimately improve the wellbeing of our patients. Learn more: www.ccri.at & www.kinderkrebsforschung.at.
About the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences The mission of CeMM is to achieve maximum scientific innovation in molecular medicine to improve healthcare. At CeMM, an international and creative team of scientists and medical doctors pursues free-minded basic life science research in a large and vibrant hospital environment of outstanding medical tradition and practice. CeMM’s research is based on post-genomic technologies and focuses on societally important diseases, such as immune disorders and infections, cancer and metabolic disorders. CeMM operates in a unique mode of super-cooperation, connecting biology with medicine, experiments with computation, discovery with translation, and science with society and the arts. The goal of CeMM is to pioneer the science that nurtures the precise, personalized, predictive and preventive medicine of the future. CeMM trains a modern blend of biomedical scientists and is located at the campus of the General Hospital and the Medical University of Vienna.
About the Medical University of Vienna (MedUni Vienna) MedUni Vienna is one of the most established medical education and research facilities in Europe, with a centuries-old tradition of excellence in medical research and clinical practices. With almost 8,000 students, it is the largest medical training center in the German-speaking countries. With its 30 university hospitals and two clinical institutes, 12 medical theory centers and numerous highly specialized laboratories, it is also one of Europe’s leading research institutions in the biomedical sector.
The Immunological Consequences of Targeted Immune Therapies
Secondary immunodeficiencies become more and more common and widespread as they develop in the course of numerous diseases and result from a variety of therapeutic conditions. Increasingly, in many spheres of medicine, agents (biologics, JAK inhibitors etc) are used which can have profound, long-lasting effects on immune function, as well as treating the disease in question. The immunological side-effects are not always appreciated, recognized, investigated, or managed appropriately, even within the same discipline, and within one hospital, patients under different disciplines can be managed quite differently.
The Symposium on the Immunological Consequences of Targeted Immune Therapies organized by the Clinical Working Party of ESID is a unique multidisciplinary opportunity bringing together professionals from different fields to discuss the challenges in the treatment and management of acquired immunodeficiencies.
Vaccination is the most effective preventive measure against infection and as such extremely important in children who are immunocompromised because of treatment with immunomodulatory drugs. Children with rheumatic diseases are commonly treated with such drugs so infections present a major danger for their health. Risk of disease flare, uncertainty about long-term protection after vaccination, and risk of disseminated infection after vaccination with live attenuated vaccine should be taken into account. In general, there are no major safety concerns for vaccination with non-live vaccines in paediatric patients with rheumatic diseases, regardless the therapy, but live attenuated vaccines should be withheld in children with rheumatic diseases treated with immunomodulatory drugs. However, in a case of a high risk of infection, vaccination can be considered on a case-to-case basis. A recent multicentre retrospective study conducted by PRES Vaccination working party provided some evidence about the safety of booster MMR dose in children with rheumatic diseases treated with immunomodulatory therapy, including biologics. However, larger multicentre prospective studies are needed to provide more firm evidence about safety and efficacy of MMR vaccine in these patients.
The webinar will consist of 30 min presentation and 30 min Q&A session.
Last year, the Novel Coronavirus has been reported as possibly linked to a paediatric hyper-inflammatory syndrome. A small number of children have developed a more serious inflammatory condition in temporal association with COVID-19 in the community, often leading to hospitalization, and occasionally requiring intensive care.
In order to better characterize this new clinical phenotype a joined PReS, ESID, ISSAID, ERN-RITA and PRINTO network’s effort has been started; an international survey has been launched asking the number of patients seen with this clinical phenotype, resulting in the creation of HyperPED-COVID Registry, a retrospective observational study.
The goal of this webinar is to give an updated status about the registry (number of patients and centres involved), along with an overview of the data collection system.
The foreseen expected public has an interest in Covid-19 related hyperinflammatory syndrome.
Marco Gattorno, President of the International Society of Systemic Autoinflammatory Diseases (ISSAID), Head of the Center for Autoinflammatory Diseases and Immunodeficiencies and Elisa Patrone, G. Gaslini Institute for Children, Genoa, Italy.
Marielle van Gijn (Chair of Molecular Testing WG, University Medical Center Groningen) and Anne-Sophie Korganow (Chair of Research WG, Les Hôpitaux Universitaires de Strasbourg)
14:00 Presentation 14:30 Q&A Session
You are kindly invited to send questions on the topic before the webinar to email@example.com.
Professor of paediatric immunology at the University Paris Descartes, a paediatrician at Hôpital Necker-Enfants Malades, Researcher at Institute Imagine, Paris, France and also the chair of the national COVID-19 vaccination programme in France.
Guest speaker: Prof. Ori Elkayam
Head of the Department of Rheumatology, Tel Aviv Medical Center.
Moderator: Johan Prévot
Executive director of IPOPI, RITA Board member as a patient representative for Primary Immunodeficiencies.
The ERN-RITA Molecular Testing Working Group, together with the ESID Genetics Working Party, initiated the Human Phenotype Ontology (HPO) for immune-mediated disorders project. HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools. It provides comprehensive bioinformatic resources for the analysis of human diseases and phenotypes, offering a computational bridge between genome biology and clinical medicine. ERN-RITA and ESID joined forces to create and correct HPO terminology for immune-mediated disorders (Inborn Errors on Immunity, IEI).
The coordination and bioinformatics part of this project is performed by the research group of Kaan Boztug at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD). The HPO and disease ontology terms are being revised in small, functional groups. To date, three hands-on workshops were held in 2018, 2019 and 2020 respectively.
The project is interesting for clinicians, geneticists and bioinformaticians in the field of IEI.
1) Introduction, by Marielle van Gijn (Chair of Molecular Testing WG, University Medical Center Groningen) and Anne-Sophie Korganow (Chair of Research WG, Les Hôpitaux Universitaires de Strasbourg) 2) Curation and Expansion of Human Phenotype Ontology for of Inborn Errors of Immunity, by Julia Pazmandi and Matthias Haimel from the research group of Kaan Boztug at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD)
You are kindly invited to send questions on the topic before the webinar to firstname.lastname@example.org.
This webinar is organized in collaboration with ESID.
Guest speaker: Prof. Despina Moshous
Department of Paediatric Immunology, Haematology and Rheumatology, Hôpital Necker-Enfants Malades, Professor for Paediatrics at Université Paris Descartes, Sorbonne Paris Cité and Researcher at Institut Imagine, Paris, France.
Moderator: Prof. Michael Albert
Department of Pediatric Hematology/Oncology, Dr. von Haunersches Children’s Hospital, Munich, Germany
In the last few months the Novel Coronavirus has been reported as possibly linked to a paediatric hyper-inflammatory syndrome. A small number of children have developed a more serious inflammatory condition in temporal association with COVID-19 in the community, often leading to hospitalization, and occasionally requiring intensive care.
In order to better characterize this new clinical phenotype, few month ago a joined PReS, ESID, ISSAID, ERN-RITA and PRINTO network’s effort has been started; an international survey has been launched asking the number of patients seen at with this clinical phenotype, the total number is now 475 from 87 pediatric centers in the world.
We are now happy to inform you that the project called HyperPED-COVID, a retrospective observational study, has now started and the first patients have been entered in the websystem.
For any further information on how to participate and on site activation please contact email@example.com
Marco Gattorno (Coordinator, RITA-ERN & ISSAID)
Nico Wullfraat (RITA-ERN), Sefi Uziely, Fabrizio De Benedetti (PRES research clinical affairs), Paul Brogan (ISSAID), Carine Wouters (ERN-RITA),
Claudia Bracaglia and Francesca Minoia (PRES MAS/sJIA working party)
Roberta Caorsi, Alessandro Consolaro (Survey Coordinators)
The EJP RD is glad to invite you to the information webinar organised for potential applicants to the Joint Transnational Call 2021 on “Social Sciences and Humanities Research to Improve Health Care Implementation and Everyday Life of People Living with a Rare Disease”.
The webinar will take place online on February 2nd, 2021 3:00 – 4:30pm CET.
All interested applicants are invited to register and participate to this event. The registration to this event is mandatory and will close on January 29th, 2021.
The objective of this information webinar is to give you details on the objectives, topics and administrative rules for this call for projects. The general presentation will be followed by a Q&A session with the participants.
You can already submit your question in the registration form.
For more information on the EJP RD JTC 2021 click HERE
The treatment of giant-cell arteritis is rapidly evolving. We aim to provide an update on current treatment strategies with their supporting evidence as well as potential new therapies in development. The webinar is aimed at specialists involved in the care of patients with giant-cell arteritis, students, fellows and residents with a special interest in this disease and also patient representatives.
The webinar will consist of 30 min presentation and 30 min Q&A session.
Senior Consultant at the Department of Autoimmune Diseases, Associate Professor at the University of Barcelona, Senior Group Leader at the Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
The webinar will illustrate the practical approach to undifferentiated autoinflammatory diseases in the light of the novel technical possibilities. The closer link with immunodeficiencies and immundysregulation will be also discussed.
The webinar will consist of 30 min presentation and 30 min Q&A session.
President of the International Society of Systemic Autoinflammatory Diseases (ISSAID), Head of the Center for Autoinflammatory Diseases and Immunodeficiencies, G. Gaslini Institute for Children, Genoa, Italy.
The webinar will cover clinical manifestations and laboratory features of hyperinflammation with a focus on HLH and MAS and discuss conventional therapeutic approaches as well as novel targeted therapies.
The webinar will consist of 30 min presentation and 30 min Q&A session.
ERN RITA wishes to express its support to the following statement of the European Society of Human Genetics (ESHG): “Regulation EU 2017/746 (the IVD directive) is a threat to both precision medicine and crisis management if the Article 5-§5 conditions (d)-(i) are not removed”. The new Regulation on in vitro diagnostic medical devices (the IVD directive) will be European law from May 26th, 2022. This means that all industrial producers of diagnostic tests need standard CE marking of tests and instruments.
In particular ERN RITA supports the view that the new regulation should not hinder the ability we currently have in Europe to identify creative solutions to novel problems in patient diagnostics (as part of precision medicine) or pandemic control, by imposing unnecessarily rigorous and restrictive conditions with regards to the use of “in-house” personalized tests when similar CE marked commercial tests exist.
CE marking is too cumbersome and expensive for the low-volume “personalized” laboratory tests necessary for precision medicine in the context of rare diseases. Although an in-house exemption to the requirement for CE marking has been made (article 5-§5) in the new regulation, some of the defined conditions (d to i) are problematic especially for new genetic tests such as Next Generation Sequencing, which have become indispensable tools for the diagnosis and treatment of patients with rare diseases. For details see the attached statement of the ESHG.
ERN RITA therefore fully endorses the statement of the ESHG, and strongly recommends that Article 5-§5 conditions (d) to (i) for in-house exemptions are removed from the IVD directive, while conditions (a) to (c) are kept. Failure to do so will increase health care costs and jeopardize Europe’s ability to design precise “personalized” laboratory tests and to adapt to the rapidly shifting requirements of this field.
Nico Wulffraat, coordinator of ERN RITA, on behalf of the ERN RITA Board
We are happy to inform you that the MERITA project “A metadata registry for the ERN RITA” has started!
The aim is to complete the registration of all the RITA registries in the European Rare Diseases Registry Infrastructure and develop a new RITA registry collecting basic data from all the RITA network registries, according the Common Data Elements identified by the European Commission’s Joint Research Centre.
This is an important step towards attaining interoperability between rare immune disorder registries, which is essential to ameliorate care of patients.
You can download the PDF version of the project leaflet here.
This webinar aims to offer an overview of ANCA-associated Vasculitis, and we welcome all those involved clinically in vasculitis, including nephrologists, rheumatologists, dermatologists, pulmonologists, paediatricians, and especially young colleagues who are looking for an overview in the field. We will focus on the clinical setting including practical advice on patient care.
The webinar will cover major clinical manifestations and evaluation of the novel multisystem inflammatory syndrome in children that is related to SARS-CoV-2 infection and possible differential diagnoses.
As you may already know, ECRD 2020 will now take place exclusively online, on 14-15 May using an interactive online platform. It is now possible for more people than ever to register to participate online from the safety and comfort of your own home, wherever you are in the world. In line with moving online, registration fees have been reduced to make it easier to connect with the rare disease community from home. If you had already registered via the old registration form for the conference in Stockholm, you do not need to re-register. Once registered, you will be able to participate in interactive sessions led by over 100 industry experts built around six themes, including Theme 3: ‘Share, Care, Cure: Transforming care for rare diseases by 2030’, which has a particular focus on the role of ERNs. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community from over 50 countries around the world – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators. Despite the many challenges we are all currently facing, by joining the global rare disease community at ECRD 2020 you will help to shape the next decade of policy for people living with a rare disease! Kind regards, ECRD Secretariat
In the midst of the CORONA pandemic we want to inform you that there are 2 separate surveys to report Covid19 infected patients with underlying rheumatological or immunological conditions. The first one was setup by ESID and was reported at the RITA website on march 22. It is accessible by https://www.surveymonkey.com/r/67RBPNZ?
The second survey is specifically for patients with rheumatic conditions and is called COVID-19 European Patient Registry, written by the Global Rheumatology Alliance. The latter registry is aiming at patients and is open for adults as well as pediatric patients. So far, we have 2,146 adults and 374 children in the Registry, and have had 14 adults and 1 child diagnosed with COVID-19. It can be accessed at www.jarproject.org/covid
In light of the ongoing COVID-19 outbreak IPOPI, ESID, INGID, APSID, ARAPID, ASID, LASID & SEAPID is releasing a joint statement on the current epidemics of the new coronavirus (see attachment). We understand that the ongoing situation raises many questions for you and your members and we hope that this statement will answer many of them.
The EU level Call to Action on Newborn Screening for Rare Diseases launched by IPOPI, the European Society for Immunodeficiencies (ESID) and the International Society for Neonatal Screening (ISNS) last December at the IPOPI 13th EU PID Forum is now available for consultation.
The 13th IPOPI EU PID Forum was dedicated to “Newborn screening for rare diseases – A PID perspective” and set the scene for a strong political debate on newborn screening for severe combined immunodeficiencies as well as other severe forms of PIDs (such as complete Di George syndrome). The Call to action was supported by a high number of MEPs including those present at the Forum: Dr Manuel Pizarro (Social-Democrats, Portugal), Ms Tilly Metz (Greens, Luxembourg), Ms Irena Joveva (Renew Europe, Slovenia), Ms Sirpa Pietikainen (European People’s Party, Finland) and Dr Tudor Ciuhodaru MEP (Social-Democrats, Romania).
The Call to Action stresses the need for the development and implementation of overarching guidelines in the field of newborn screening for rare diseases and the creation of a European newborn screening standing committee was observed. This would facilitate the exchange of best practices and recommendations on newborn screening and allow national decision-makers to better access information and solid evidence from other Member States.
Happy to announce the 2019 HPO towards immune mediated disorders in Vienna on 17-18th October – Supported by ESID and ERN RITA and organized by LBI-RUD. If interested please get in contact with office (at) rud.lbg.ac.at
Come and join us in Newcastle city centre for a full day of talks, interactive case discussions and networking opportunities, invaluable to anyone interested in childhood infection and immunity!
Discussing some of the speciality’s hot-topics in research, clinical medicine and public health at home and abroad, this year’s selected speakers include: Dr Ronan Leahy (Dublin), Dr Terry Flood (Newcastle), Dr Scott Hackett, (Birmingham), Dr Rosie Hague (Glasgow), Professor Andrew Gennery (Newcastle), Dr Peter Arkwright (Manchester) and Professor Sophie Hambleton (Newcastle)
Registration is free and lunch is included.
Please do circulate amongst your colleagues, to register please email firstname.lastname@example.org to secure your place, spaces are limited.
Novel Cross-sector Collaboration Establishes Pan European Paediatric Clinical Trial Network to Improve Infrastructure and Facilitate Development of Medicines for Children in Europe
PADOVA – 29 April 2019 – The conect4children (c4c) consortium today announced the selection of its first portfolio of pan-European paediatric studies aimed at advancing the understanding of high priority medicines commonly used in babies, children and young people in Europe. The four inaugural studies will be conducted by academic institutions, in addition to three or four studies by industry partners, covering different diseases and age groups.
The study portfolio will leverage the scientific quality, rigor and capabilities of the c4c network, a global consortium of more than 30 academics, 10 industry partners and a network of more than 500 affiliated partners. The research collaboration will be used to build and implement a pan-European paediatric clinical trial network whose goal is to improve the European paediatric clinical trial infrastructure in order to facilitate the development of new, innovative and safer medicines for children in Europe.
The selected studies will implement new ways to:
Ensure that the experiences and preferences of children and young people are reflectedin clinical trialdesign and minimise the burden of their participation in research
Employ cutting-edge science and implement new, innovative ways to evaluate medicines
Demonstrate the value of collaborating across 18 countries, building on a public-private partnership that blends expertise from leading industry and academic partners.
“Building on this portfolio of paediatric research, the c4c consortium aims to enhance the competitiveness of Europe as a critical region for developing medicines for children by using existing expertise, patient access and developing common processes to be applied to disease natural history studies, registries, studies of new therapies and comparisons of existing therapies,” said Professor Mark Turner, University of Liverpool, UK.
About the c4c pan-European paediatric studies:
Paracetamol in Premature Babies: Will assess the effectiveness of paracetamol in premature babies with a patent ductus arteriosus, and aims to recruit around 600 babies as part of the study (Lead: Prof. Jean-Christophe Roze of INSERM, a public research organization in Paris, France entirely dedicated to human health)
Steroids to Treat Kawasaki Disease: Will assess the effectiveness of adding steroids to standard treatment in children with Kawasaki Disease, and aims to recruit 262 children as part of the study (Leads: Dr. Depsina Eleftheriou and Prof Paul Brogan of the University College of London (UCL), an academic research institution in the UK).
Posaconazole in Children with Cystic Fibrosis: Will assess the dose of posaconazole in children and young people with Cystic Fibrosis and infection with Aspergillus and aims to recruit 130 children as part of the study (Lead: Prof. Adilia Warris of the MRC Centre for Medical Mycology, University of Aberdeen and Ospedale Pediatrico Bambino Gesù (OPBG), a children’s hospital in Rome, Italy).
Losartan to Treat Osteogenesis Imperfecta: Will assess losartan in children and young people with Osteogenesis Imperfecta and aims to recruit 30 children (Lead: Prof. Nick Bishop of the University of Sheffield, an academic research institution in the UK).
About Innovative Medicines Initiative and c4c
This project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU), Europe’s biggest Public-Private Partnership, under grant agreement No 777389. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA (the European Federation of Pharmaceutical Industries and Association).
Under the name c4c, the new research consortium unites pharmaceutical companies, paediatric national networks as well as EU Multinational sub-specialty Networks, large patient advocacy groups, children’s hospitals and other public research organisations from across Europe. The full list of organisations involved in the project can be found at the c4c webpage www.conect4children.org.
EMQN are introducing a pilot scheme for external quality assessment (EQA) of molecular testing for Severe Combined Immunodeficiency (SCID) in 2020. The scheme has been organised in collaboration with the ERN-RITA molecular testing working group.
The 2020 SCID pilot scheme will be limited to 30 participating laboratories
The SCID scheme is designed for laboratories testing gene panels.
3 DNA samples will be distributed with mock clinical scenarios. Samples will include variants in different genes relevant to SCID, for example RAG1/2, ADA, and DCLRE1C. The genes included in the scheme will vary each year.
This scheme is suitable for sequence analysis methods (eg. NGS and Sanger)
For each case, participants will be asked to return a clinical report which includes clinical interpretation of the results.
Genotyping, interpretation, and patient identifiers and clerical accuracy will be assessed.
Human Phenotype Ontology (HPO) and disease ontologies such as OrphaNet aim to provide standardized vocabularies of phenotypic abnormalities and human diseases. HPO and OrphaNet enable efficient patient data exchange and facilitate seamless communication between clinicians and researchers to detect novel disease-causing genes and address phenotype-genotype correlations.
Despite the ongoing efforts, there are still crucial, disease-specific gaps in HPO and OrphaNet disease ontology when describing rare, immunological diseases.
Our initiative brings together geneticists, medical doctors, bioinformatics, and immunologists. Organised into functional working groups, our aim is to systematically re-evaluate and complete HPO and OrphaNet disease ontology terms, and re-annotate diseases. Our kick-off workshop in Vienna from 10-11th September 2018 brought together 20 experts from different fields including geneticists, medical doctors, bioinformatics, and immunologists, both from the ESID Genetics working party, and ERN RITA. The participants reviewed, curated, updated and expanded ontologies for 16 different diseases, and suggested structural changes regarding multiple branches of the HPO tree, including infections, neutrophils and fever-related conditions.
Our next goals are to bring together more experts in order to foster re-annotation of all immune related diseases and re-evaluation of relevant HPO terms, in order to
unify the nomenclature of patient phenotyping
standardize patient characterization: clinician/researcher can characterize patients in a language independent manner
allow for efficient data exchange between clinicians, laboratories and centers
facilitate matching phenotypically similar patients to enable gene discovery
allow for similarity measures across diseases/shared phenotypes.
If you are interested in joining our initiative, please feel free to register on the email list and contact us at:
Join the World PI Week 2019 “Putting primary immunodeficiency patients at the centre of their care”!
On the last week of April (22-29 April), people from around the world celebrate the World PI Week campaign, to raise awareness and understanding of primary immunodeficiency. The ultimate goal is to bring about change in policy and healthcare practice and improve the care and quality of life of patients and their families.
This year, patient-centred care is at the heart of the campaign!
There are over 320 different types of primary immunodeficiencies which are estimated to affect over 6 million people worldwide.
People with primary immunodeficiency are all different: their specific health needs should be taken into consideration in their care pathway; and treatments be personalised to their situation.
In patient-centred care, healthcare systems are designed to ultimately benefit patients. The systematic implementation of new-born screening for severe forms of primary immunodeficiency is one example of this, by ensuring that patients can be diagnosed at an early stage.
Beyond, patient-centred care allows for patients and their families to be partners of healthcare providers in the decisions related to their own care and treatment plans.
Learn more about how to engage and participate in the World PI Week here. You will find materials, resources and ideas to help you raise awareness around you and take part in the efforts of the primary immunodeficiency community globally!
Putting patients first in primary immunodeficiency care: celebrate WorldPIWeek!
Brussels, 22nd April 2019 – The 9th World Primary Immunodeficiency (PI) Week campaign starts today, with one key message: let’s deliver care with and for patients with primary immunodeficiency worldwide.
Spotlight on patient-centricity
There are over 320 different types of primary immunodeficiencies, affecting over 6 million people worldwide. The types are all different, meaning that each individual requires a personalised approach, focused on his/her specific needs. World PI Week, 22-29 April, is an opportunity to join a global movement calling for patient-centred care for people living with primary immunodeficiency and their families around the world.
Patient centricity means not working around but with patients: patients and their families are partners of healthcare providers in the decisions related to their own care and treatment plans.
Patient centricity requires re-thinking and re-organising services so they are truly oriented to deliver the best value to their end-users, the patients. One example of this is the systematic implementation of new born screening for severe forms of primary immunodeficiency, which ensures that patients can be diagnosed at an early stage.
Patient centricity also means working in a holistic, inclusive way with the multiple actors who play a role in care delivery, from patients and doctors, to allied healthcare professionals, biologists and researchers.
Spreading the word across the globe to deliver change
From today onwards, people on all continents are taking part in the World PI Week by organising events, conferences, family days, TV/radio interviews and many other activities to raise awareness and help bring about change.
Get involved to show support of the primary immunodeficiency community! Join the many individuals living with the disease, their families, healthcare professionals, scientific experts, companies, policy-makers and researchers across the globe who are advocating for a political, societal and healthcare shift towards patient-centricity. This will bring the best outcomes for primary immunodeficiency patients!
Capitalising on its new branding and vision and supported by its active network, the World PI Week 2019 brings positive momentum for action.
Together, bringing about change for primary immunodeficiency patients worldwide!
ABOUT WORLD PI WEEK
World PI Week is a global movement to raise awareness of primary immunodeficiency and related challenges; promote quality of life for people with primary immunodeficiency, early diagnosis, availability and access to treatment and care worldwide; and stimulate communication and advocacy around primary immunodeficiency.
ABOUT PRIMARY IMMUNODEFICIENCY
Primary immunodeficiencies are rare diseases which occur when a person’s immune system is absent or does not function properly. When a defect in the immune system is inherited (carried through the genes), it is called primary immunodeficiency. There are over 320 forms of Primary Immunodeficiency (PI or PID), ranging widely in severity.
Primary Immunodeficiency often presents in the form of “common” infections, sometimes leading physicians to treat the infections while missing the underlying cause, allowing the infections to reoccur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death.
One year on from their launch, ERNs are treating more than 50 patients with rare diseases. Such is the nature of rare and complex diseases, that specialist knowledge is scarce and fragmented, and therefore often unavailable in the patient’s region or country. Case studies are used in this article by Vytenis Andriukaitis, European Commissioner for Health and Food Safety to demonstrate how this makes ERN work on rare diseases an area of enormous EU-added value; using the EU’s great pool of knowledge and expertise and by connecting our assets through ERNs can bring concrete benefits to many thousands of patients.
12-13th April 2018, Frambu, just outside of Oslo. The location was selected as this workshop is in fact being co-organised with another important project for the rare disease/highly specialised & complex care field: INNOVcare https://innovcare.eu/events/
Although not focused solely on ERNs, the ERNs will have a particular prominence and focus in this workshop, to explore how the Networks –as key players in the RD field- can support the activities initiated by previous and current Joint Actions and the INNOVcare project, and provide insight to the rich experiences of your disease communities
World Primary Immunodeficiencies Week 2018 – 22nd – 29th April 2018
World PI Week offers an opportunity to inform and educate health policy-makers, schools and families, and the general public about primary immunodeficiencies (PID) to drive the earliest possible diagnosis and optimal treatment. Through events and activities promoting early recognition of PID, the … read more global PID community can unite to bring about positive changes in healthcare systems and practices around the world in support of people living with PID.
RARE DISEASE NETWORKS, ONE YEAR IN: The computer networks are up and running and rare disease patients are starting to enter their data. A year after their launch, the European Reference Networks are looking ahead to what it will take to truly perform their mission: connect patients with the Continent’s top experts, no matter where they live. Health Commissioner Vytenis Andriukaitis is one of the ERN’s biggest cheerleaders; he envisions them as the “backbone” of a broader pan-European health data network. Yet Andriukaitis was clear- eyed Wednesday about the three immediate challenges facing the ERN as they enter their next phase.
The first, he said, is making sure the ERN are integrated into national and regional health systems. Member countries need to assess whether they need to change their laws to aid success. It’s not yet clear how patients get referred into the ERN, and the exact definition of how member countries support the ERN is still murky.
Hospital support is the No. 2 challenge for the ERN, Andriukaitis said, with hospital managers as “key players.”
Finally, and perhaps most politically important, is pulling other countries into the networks. Right now, 25 EU countries and Norway are part of the 24 networks. A big concern has long been that the “centers of excellence” — the hubs of the ERN spokes — will be disproportionately in Western and Northern European countries. Andriukaitis said the Commission is planning to launch a call for new ERN members to join at the end of 2018. “We need to ensure that new members bring new knowledge into the networks and increase the geographical coverage,” he said at Wednesday’s event, hosted by the patient group EURORDIS. In patients’ own countries, he added, “networks need to become stronger, more productive and more accessible.”