June 28


June 28

Let’s celebrate the international neonatal screening day (insd) together!

  • Neonatal screening is a game changer in access to timely diagnosis and appropriate treatment for children suffering from serious and sometimes life-threatening disorders.

  • The INSD is a unique opportunity to raise awareness throughout the world about the importance of neonatal screening to speed-up diagnosis and treatment.

  • On June 28, we are celebrating the vision of those who have helped make neonatal screening possible and will, in turn, encourage a new generation of stakeholders to extend its benefits to more children suffering from a wider range of disorders.

Importance of NBS worldwide

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) is in place in most national programmes, the implementation of other conditions, such as severe combined immunodeficiencies (SCID) or spinal muscular atrophy (SMA), is more limited, despite growing attention over the past decade.

Learn more about the Screen4Rare initiative and the importance of NBS here.

Why June 28?

June 28 celebrates Dr Robert Guthrie’s birthday (June 28, 1916 – June 24, 1995), a microbiologist who introduced the paper blood spot card and a new assay to screen newborns for Phenylketonuria (PKU) in the United States in the 1960s. His work and activities revolutionised the detection of children with inborn conditions, enabling the improvement of children’s health. Dr Guthrie dedicated his life to raise awareness of the need for neonatal screening for treatable conditions.

What is insd?

On June 28, we are celebrating the life changing benefits of early detection of diseases and the opportunities it offers in terms of early access to treatment.

We hope that the INSD will become a real stimulus to raise awareness about the value of neonatal screening, as well as encourage collaboration and the sharing of best practices to continually improve routine screening and ensure the newest scientific evidence is incorporated.

Why an INSD?

What does neonatal screening mean for patients?

Timely access to diagnosis, treatment and care!

Whilst some conditions, such as phenylketonuria (PKU) or congenital hypothyroidism (CH) have long been implemented in many national neonatal screening programmes, others such as severe combined immunodeficiencies (SCID) or spinal muscular atrophy (SMA), have been gaining growing attention in the past decade, with new advanced therapies becoming available.

About the founders

The INSD is an initiative led by the International Society for Neonatal Screening (ISNS), the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the European Society for Immunodeficiencies (ESID), which have been working in partnership under the multi-stakeholder Screen4Rare initiative to promote the importance of neonatal (newborn) screening.

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

#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:

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