Neonatal Screening

A life-saving tool for babies born with treatable rare disorders

ABOUT US

The ultimate goal

Screen4Rare’s ultimate goal is, through policy engagement, to work towards ensuring that all babies can have equitable access to newborn screening; a life-saving tool for conditions such as severe combined immunodeficiencies. Screen4Rare founding partners are:

  • IPOPI International Patient Organisation for Primary Immunodeficiencies
  • ISNS – International Society for Neonatal Screening

  • ESID European Society for Immunodeficiencies

NEWBORN SCREENING

Newborn (or Neonatal) screening saves lives. Currently available scientific evidence from world-wide neonatal screening programmes and pilots clearly demonstrates that the early asymptomatic detection enabled by neonatal screening, when linked to appropriate treatment, can be life changing and even lifesaving.

While screening for some conditions, such as phenylketonuria (PKU) or congenital hypothyroidism (CH) are in place in most national programmes, the implementation of others, such as severe combined immunodeficiencies (SCID) or spinal muscular atrophy (SMA), is more limited, despite growing attention over the past decade.

ABOUT US

Screen4Rare is a multi-stakeholder initiative launched by IPOPI, ISNS and ESID aimed at exchanging knowledge and best practices on NBS for rare diseases. Its ultimate objective is to ensure all babies born in the EU can have equal access to NBS which can be a life-saving tool for conditions such as SCID.

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CALL TO ACTION

The European Union’s (EU) added value in the field of rare diseases is well known. From the European Reference Networks (ERNs) to the EU research funding programmes, positive strides have been taken on health-related matters.

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ERN NEWBORN SCREENING EXPERT PLATFORM

On 14 September 2021, representatives of the European Commission, European References Networks (ERNs), and Screen4Rare1 officially launched the ERN Expert Platform for Newborn Screening.

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INTERNATIONAL NEONATAL SCREENING DAY

The first INSD was celebrated on June 28th 2021 and will be celebrated every year in the future on the same date. The date of the INSD was chosen as a tribute to Dr Robert Guthrie, as such it is to be celebrated on his birthday: June 28th.

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Value of NBS

NBS for RD plays a critical role in improving healthcare outcomes and mortality for rare diseases. In the specific case of primary immunodeficiencies, the results from recently established programmes at national level demonstrate that newborn screening can dramatically improve the outcomes for infants with Severe Combined Immunodeficiencies (SCID)

Founding Members

Screen4rare was founded by IPOPI, ISNS, and ESID. These organisations meet regularly to set Screen4Rare’s overarching strategy and guide the development of various workstreams within the initiative.

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Member of European Parliment (MEP) Interest Group

The MEP Alliance for Rare Disease Newborn Screening (the S4R MEPs) is an informal MEP Group that brings Members of the European Parliament together to raise awareness and prioritise newborn screening for rare diseases policies at the EU level.

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EU Health Policy Platform

The EU Health Policy Platform (HPP) is an online platform created to share ideas, knowledge and expertise. HPP allows users to create specific stakeholder platforms to allow for knowledge exchange.

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Less than a 1 week to go until our MEP Alliance Event on the Pivotal Role of #NewbornScreening in the Future EU #RareDisease Policy!
It's our pleasure to partner with MEP @Kympouropoulos and @DeirdreCluneMEP to discuss the future of EU newborn screening.

@ipopi_info is actively participating today in the #Together4RD event on a new model for collaboration to address areas of unmet need in #rarediseases. Happy to meet again with #Screen4Rare #newbornscreening champion MEP @Kympouropoulos as host of this important meeting!

Screening for some of the most severe forms of #immunodeficiency, such as Severe Combined Immunodeficiencies, will allow for earlier diagnosis and better treatment outcomes.

See IPOPI's new video on PID diagnosis
https://ipopi.org/pids/what-are-pids/

#diagnosis #neonatalscreening #SCID

ISNS and @Screen4Rare were present at the 23rd July 2022 event “Early diagnosis of patients with rare disorders in the EU: Crucial role of newborn screening”, in Brno, Czech Republic. All presentations and panel discussions are now available on video: https://lnkd.in/ewywevbk

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