ERN-RITA Webinar: COVID-19 vaccination for PIDs & rare Autoimmune rheumatic diseases

Save the date: April 9, 2021, 14:00 CET

More about the webinar

The talk will be directed at clinicians and representatives of patient groups seeking more in-depth information on the topic.

The webinar will consist of 30 min presentation and 30 min Q&A session.

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Guest speaker: Prof. Alain Fischer

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.

Registration

Please register HERE

ERN-RITA Webinar: Introduction to the Human Phenotype Ontology project

Save the date: March 26, 2021, 14:00 CET

More about the webinar

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.

Agenda:

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 contact-rita@ern-net.eu.

Registration

Please register here

ERN-RITA Webinar: Primary HLH from birth to adulthood – a disease with many faces

Save the date: February 26, 2021, 14:00 CET

More about the webinar

The talk will cover all aspects, from diagnostics to treatment in children and adults with primary HLH. It will be directed at physicians of all medical fields and experience levels.

The webinar will consist of 30 min presentation and 30 min Q&A session.

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

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

Registration

Please register here

Introducing the HyperPED-COVID Registry

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 PReSESIDISSAIDERN-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 printo@gaslini.org


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)

Nicola Ruperto and Alberto Martini for PRINTO

Source: https://www.printo.it/projects/ongoing/31

Invitation to first RECOMB webinar

We are pleased to announce the very first RECOMB webinar which will takes place on January 29, 15:00 CET.

It will introduce gene therapy for RAG-SCID,  discuss how it will work for RAG1-SCID, and  provide the latest status report and prospects of the RECOMB project.

The topics will be discussed by Prof Arjan Lankester, Prof Karin Pike-Overzet and Prof Frank Staal from LUMC. The webinar will be moderated by Mr Johan Prevot from IPOPI.

Please register herehttp://www.recomb.eu/registration/

The webinar will be held through the Livestorm platform and can be accessed both through your computer and your mobile device. It will also be recorded and published on the RECOMB website.

Information Webinar for JTC 2021

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

REGISTER HERE

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

ERN-RITA Webinar: Advances in the treatment of giant-cell arteritis

Save the date: January 22, 2021, 14:00 CET

More about the webinar

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.

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Maria C Cid, MD

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)

Registration

Please register here

ERN-RITA Webinar: New autoinflammatory diseases and new approaches for the characterization of patients with undefined SAID

Save the date: December 18, 2020, 14:00 CET

More about the webinar

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.

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Marco Gattorno

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.

Registration

Please register here

RITA Webinar: Too much of a response: Hyperinflammation HLH and MAS and beyond

Save the date: November 13, 2020, 14:00 CET

More about the webinar

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.

 

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Fabrizio de Benedetti, MD, PhD

Head of Division of Rheumatology and Laboratory of ImmunoRheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

Registration

Please register here

4th ESID CWP/IEWP Online Thymic Workshop

Save the date: 5th November 2020

Register in advance for this meeting.

After registering, you will receive a confirmation email containing information about joining the meeting.

Programme:

Time (GMT) – Topic (Speaker)

09:30 – Introduction (Andrew Gennery)

09:45 – Failures in the Recovery of Thymus Medulla Function Lead to Loss of T-cell Tolerance Following Bone Marrow Transplantation (Abdullah Alawam)

10:05- Diversity in Medullary Thymic Epithelial Cells Controls the Activity and Availability of iNKT-cells (Beth Lucas)

10:30 – Approaches to restoring T cell immunity and thymic function (Frank Staal)

11:15 – Break

11:30 – Outcomes after thymus allografting (Graham Davies)

12:15 – Dynamic changes of thymus stromal cell complexity at single cell resolution (George Hollander)

13:00 – Break

14:00 – AIRE deficiency revisited (Michail Lionakis)

14:45 – Deconstructing thymus development to reconstruct immune education from human pluripotent stem cells (Rene Maehr)

15:30 – Cell death, innate signalling, and repair: Tale of a “dead-man’s switch” orchestrating endogenous thymic regeneration (Jarrod Dudakov)

16:15 – Discussion and close

NEWBORN SCREENING FOR SCID – “STATE OF THE ART”

Save the date: January 26th and 27th 2021

It is more than 10 years since the inclusion of SCID within the Recommended Uniform Screening Panel in the USA.

During that time much has been learned and a number of countries have now begun to evaluate, operate or plan newborn screening programmes.

On January 26th and 27th 2021 we are pleased to host a virtual meeting of leaders in the field from around the world to discuss progress.

Download the detailed meeting schedule.

You can register for this meeting here.

Invitation to RITA Webinar: Newborn screening for SCID

Implications from a one-year experience of a nationwide program

Save the date: October 23, 2020, 14:00 CEST

More about the webinar

The webinar is aimed at medical students and medical doctors with an interest in newborn-screening, neonatology, immunodeficiency and hematopoietic cell transplantation.

The webinar will consist of 30 min presentation and 30 min Q&A session.

 

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Dr Fabian Hauck

Assistant Professor and Head of Immunodeficiency Unit and Immunological Diagnostics Laboratory at LMU Klinikum, Munich.

Registration

Please register here

MERITA project introduction & leaflet

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.

Invitation to RITA Webinar: Evaluation and Early Diagnosis of AAV

September 11, 2020, 14:00 CEST

More about the webinar

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.

  • 30 min presentation,
  • 15 min Q&A session,
  • 15 min open discussion

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Irmgard Neumann

Nephrologist, Vienna, Austria and IZZ, Immunologiezentrum Zurich, Switzerland, active EUVAS member.

Registration

Please register here

Invitation to RITA Webinar: Pediatric multisystem inflammatory syndrome (PMIS) in the context of COVID-19

10. June 2020, 14:00 CET

More about the webinar

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.

  • 30 min presentation,
  • 15 min Q&A session,
  • 15 min open discussion

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Prof. Angelo Ravelli

Head of Division of Rheumatology at the Giannina Gaslini Institute, Genoa, Italy, and Director of Pediatric Residency Program at the University of Genoa.

Registrations

This webinar is dedicated to practicing rheumatologists, immunologists and pediatricians with an interest in inflammatory and autoimmune conditions in children.

Please register here

European Conference on Rare Diseases & Orphan Products (ECRD) 14-15 May 2020

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

COVID-19 European Patient Registry

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

IPOPI coordinated a global statement on COVID-19

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.

You may find the statement here.

IPOPI, ESID and ISNS launch anEU level Call to Action on Newborn Screening for Rare Diseases

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.

4th Conference on European Reference Networks

Date

Wednesday 21 November 2018 from 09:00 to 17:45

Thursday 22 November 2018 from 08:45 to 17:00

Venue

  • Charlemagne Building – European Commission – Gasperi room
  • Rue de la Loi 170, 1000 Brussels – Belgium

Background 

24 ERNs were launched in March 2017 and are now operational. The ERNs’ system is a successful story. The complexity and ambition of the model implies a continuous and proactive analysis of the many challenges that ERNs are facing in the current deployment phase and those that will arise in the future.

The objectives of this year’s conference are:

  • To inform about the state of play of ERNs as a success of cross-border collaboration and new way of delivering healthcare.
  • To mark the momentum that ERNs are entering into a new life cycle: the deployment phase.
  • To present the main clinical and organisational outcomes of the networks and lessons learnt.
  • To identify the main challenges, potential improvements for the functioning and management of the networks and the way forward of the ERN system.

10 delegates from each ERN have been registered for this event and the network will share the outcome of these days with those who were unable to attend.

18th International Conference on Behçet’s Disease

18th International Conference on Behçet’s Disease, Rotterdam, the Netherlands.

The Erasmus University Medical Center in Rotterdam is a recognized Academic Center of Excellence on Behçet’s Disease in the Netherlands and participates in the European Reference Network in Behçet’s disease.

The international conferences on Behçet’s Disease are always a main event for physicians and researchers interested in Behçet’s disease. The contributors provide top oral presentations and poster sessions of accepted abstracts on a wide range of topics including basic immunology, genetics and clinical innovations. Meet-the-expert sessions will give young physicians an opportunity to share experiences with experts in the field.

http://behcet2018rotterdam.com/

European Rare Diseases Day 2018: One-year anniversary of the European Reference Networks for rare diseases

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.

Creating a Sustainable Environment for Holistic & Innovative Care for Rare Diseases & Complex Conditions

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

Commission representations in Member States

France: https://ec.europa.eu/france/news/20180228_maladies_rares_fr

United Kingdom: https://ec.europa.eu/unitedkingdom/news/first-anniversary-eu-health-network-harnesses- knowledge-and-expertise-help-thousands-patients_en

Italy: https://ec.europa.eu/italy/news/20180228_giornata_europea_malattie_rare_it

Spain: https://ec.europa.eu/spain/news/180228_eu-day-rare-diseases-2018_es

Czech Republic: https://ec.europa.eu/czech-republic/news/180228_ERS_pro_vzacna_onemocneni_cs

Ireland: https://ec.europa.eu/ireland/news/european-rare-disease-day-2018_en

Luxembourg: https://ec.europa.eu/luxembourg/news/journ%C3%A9e-europ%C3%A9enne-des-maladies-rares-2018-premier-anniversaire-des-r%C3%A9seaux-europ%C3%A9ens-de_fr

Source: European Commission

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.

http://www.worldpiweek.org/home

Press release Rare Diseases Day and 1 year anniversary of ERNs

European press:

The Parliament Magazine, 20 February 2018

https://www.theparliamentmagazine.eu/articles/opinion/rare-disease-research-european-reference- networks-are-good-start

European Commission, 28 February 2018:

http://ec.europa.eu/newsroom/sante/newsletter-specific-archive-issue.cfm?newsletter_service_id=327&newsletter_issue_id=7438&page=1&fullDate=Wed%2028%20Feb%202018&lang=default

Politico Pro, 1 March 2018:

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.”

National coverage:

Italy (Panorama Sanitá), 1 March 2018:

http://www.panoramasanita.it/2018/03/01/malattie-rare-oggi-il-primo-anniversario-delle-reti-di-riferimento- europee-gia-operative-24-ern/

Croatia (Vecernji), 1 March 2018:

https://www.vecernji.hr/vijesti/europski-dan-rijetkih-bolesti-ern-vytenis-andriukaitis-1229685

Portugal (Público), 2 March 2018:

https://www.publico.pt/2018/03/01/sociedade/opiniao/um-ano-de-redes-europeias-de-referencia-para- as-doencas-raras-1804781

Bulgaria (Forum Medicus), 7 March 2018 http://forummedicus.com/