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