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

ERN RITA supports the European Society of Human Genetics Statement

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

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.

27th Watson Study Day

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 roz.scott@newcastle.ac.uk to secure your place, spaces are limited.

Draft Agenda The 27th Watson Study Day Programme 2019

New conect4children Consortium Selects Inaugural Research Portfolio to Advance Development of Innovative Paediatric Medicines

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 reflected in clinical trial design 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.

For more info on IMI visit www.imi.europa.eu and follow on Twitter at @IMI_JU.

Project Office/General Enquires: Email us. communication@conect4children.org

For more information about the research studies, contact:

Disclaimer
This communication reflects the views of the c4c Consortium and neither IMI nor the European Union and EFPIA are liable for any use that may be made of the information contained herein

 

H2020-JTI-IMI2-2016-10. Proposal: 777389

NEW! Severe Combined Immunodeficiency (SCID) EQA Scheme 2020

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.

REGISTRATION OPENS SEPTEMBER 2019

Please contact office@emqn.org for further information

Experts wanted in Human Phenotype Ontology

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

  1. unify the nomenclature of patient phenotyping
  2. standardize patient characterization: clinician/researcher can characterize patients in a language independent manner
  3. allow for efficient data exchange between clinicians, laboratories and centers
  4. facilitate matching phenotypically similar patients to enable gene discovery
  5. 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:

https://hpo-immune-mediated-disorders.groups.io/g/update

 

Join the World PI Week 2019!

 

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[1] 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!

More information: www.worldpiweek.org or email info@worldpiweek.org

[1] The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Flyer World PI Week 2019

Press release World PI Week

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.

For more information, please visit www.worldpiweek.org, follow us on Twitter @WorldPIWeek.

Press contact:
Bénédicte Faure, campaign manager : info@worldpiweek.org

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/