Welcome to ISNS

2025 Membership renewal
It's time to consider the status of your ISNS membership.
1.How do you know if you need to renew? Quite easy! Please log in with your username (=email address) and password.
a.If you see the payment page you can opt to pay for 1 year (2025), 2 years (2025+2026), or 3 years (2025+2026+2027).
Paying for multiple years entitles you to a discount of some 8-9% and in addition, it is easier for the ISNS Office.
Please note that we do not send a payment confirmation or receipt of money UNLESS you request it by sending an email to office-manager@isns-neoscreening.org
b. If you do NOT see the payment page it means that you already paid for 2024 (and perhaps also for later years). In that case you do not have to take any action.

2.Is your account still up to date?
Please log in and check the profile by clicking on the icon at the far right hand side of the top line. An essential item is a correct email address. If you find that the ISNS database has an error, please correct it and send an email to office-manager@isns-neoscreening.org as well.

3.Any question, remark, suggestion? Send an email to office-manager@isns-neoscreening.org

If you paid your membership dues and still do not receive the ISNS Newsletter please notify the ISNS Office (E: office-manager@isns-neoscreening.org).

If you change your email address please notify the ISNS Office (E: office-manager@isns-neoscreening.org).

ISNS Renewed 2025 General Guidelines for Neonatal Bloodspot Screening
The ISNS has provided neonatal screening guidelines for many years and here presents the renewed 2025 General Guidelines for Neonatal Bloodspot Screening in International Journal of Neonatal Screening.
Website: https://lnkd.in/ejjjiyek
PDF Version: https://lnkd.in/eNdH4iCy

These guidelines are intended to provide a framework for screening programs to develop specific policies around all aspects of the newborn screening system, offering the basic set of items for consideration. These guidelines provide trusted anchors to build, expand, or maintain robustly organized neonatal or newborn screening (NBS) programs and a checklist to evaluate and improve the essential elements of those programs. For starting or developing programs, it is a set of elements for which provisions need to be in place and a checklist of items that the screening program should at a minimum have provisions for. The publication of these guidelines is meant as a starting point for interactive discussion, to further improve this document and expand where necessary. We hope these guidelines proof their value for years to come.

World Health Assembly adopts first-ever Resolution on rare diseases
On 24 May 2025, Member States of the World Health Assembly (WHA) voted to adopt the organisation’s first-ever Resolution on Rare Diseases, marking a major step forward for the global rare disease community. The Resolution calls on the WHO to develop a Global Action Plan on rare diseases, thereby engaging Member States in the reinforcement of healthcare for people living with a rare disease (PLWRD) at both the national and international levels.

This success follows the extensive #Resolution4Rare campaign led by Rare Diseases International (RDI), which called for the adoption of such a Resolution in order to prioritise rare diseases on the global health agenda, and ensure that the over 300 million PLWRD worldwide are not left behind in efforts to achieve universal healthcare.

source: https://www.rarediseasesinternational.org/wha-resolution/

13th ISNS European meeting, 23-26 March in Luxembourg (www.isns2025.com)!
We look back at a fantastic meeting with more than 330 participants! On Sunday we started with the Academy101, the newly developed education initiative that we hope to continue live and virtually in the coming years. We had excellent lectures of top experts in neonatal screening and lively discussions with the participants.
In the beautiful ECCL conference venue, Jim Bonham, @Patricia Borde Chief Medical Officer at the Directorate of Health in Luxembourg Dr Jean-Claude Schmit, and Deputy Chief Executive Officer, Luxembourg National Health Laboratory, Thomas Dentzer opened the meeting, with also a video message of Patricia S. Guthrie, daughter of Dr Robert Guthrie (https://lnkd.in/emg95kFu) on Sunday and what followed were three fully packed conference days with high quality oral and poster presentations and lively discussions that were continued during coffee and lunch breaks.
Some moments stood out. We celebrated the final visit of former president and Guthrie award recipient Gerard Loeber and the ten year anniversary of International Journal of Neonatal Screening. We heard testimony of mrs. Karen Harrison (https://alextlc.org/) who told the moving story of her two sons with adrenoleukodystrophy. And the long applause after the presentation of Nataliia Olkhovych on the Ukranian screening program will certainly echo in the memory of the registrants. We thank the local organizing committee, and in particular Kate Hall for chairing and Patricia Borde, Clément KEBBABI Kebbabi and Marizela Kulisic, PhD for hosting the conference. We thank all sponsors for their support (see below).
Finally, thank you to Gaëlle Notzli, Mathias Guilloux and the team at mci-group for their excellent work.
.
See you at the 14th ISNS European region in 2028 and follow the news on our planned meetings in Costa Rica (2026) and Cairo, Egypt (2027).

The meetings was sponsored by
Revvity
LaCAR MDX Technologies,
Astoria-Pacific, Inc., Bome Trivitron Sanayi Ürünleri Dış Ticaret A.Ş., BSD Robotics, Chromsystems, Devyser, @EBF, HVD Vertriebs GmbH (Part of the HVD Group of Companies), ImmunoIVD AB, Labsystems Diagnostics , Orchard Therapeutics - U.S., SPOTON CLINICAL DIAGNOSTICS LIMITED, Másvisibles, Waters Corporation,

#Metabern, #IPOPI, #APHL, #ERN-RITA, #RareDiseases, #Neonatal, #ESID,#Screen4Rare,#INSD, #InternationalNeonatalScreeningDay

Recipients of the 2024 ISNS Awards
ISNS Council received and considered the value of a number of nominations. After careful deliberations Council members voted for
Dr Roberto Giugliani, Hospital de Clinicas, Porto Allegre, Brazil, as the recipient of the 2024 ISNS/Revvity Guthrie Award and
Dr Austin Pickens, CDC, Atlanta, USA, as the recipient of the 2024 ISNS/Bio-Rad Dussault Medal for young investigators.
ISNS congratulates both colleagues and expects to hand over the awards at the next ISNS international symposium in 2026.!

The next APHL Newborn Screening Symposium will take place in Providence (RI), USA.
For details please see www.aphl.org/nbs2025.

Worldwide overview of NBS
Dr.Brad Therrell and a number of co-authors compiled the current situation concerning NBS worldwide.
A lengthy publication in the International Journal of Neonatal Screening (IJNS) but a MUST-READ for ISNS members !!
Please follow this link
June 29, 2024

Two historic, very interesting, videos on PKU now available!
The Laboratory of Newborn Screening of Catalonia from Hospital Clínic of Barcelona (Spain), via Dr Ana Argudo-Ramírez,  kindly made available to ISNS two historic videos.
The first one shows the original bacterial inhibition assay method for PKU, galactosemia etc. using the Phillips Punch Index Machine. This video was acquired and brought to Barcelona in 1968 by Prof. Juan Sabaté Tobella who was doing a training in the laboratory at Massachusetts General Hospital, where he learned the Guthrie method with Dr. Vivian Shi, director of the laboratory.

The second one concerns a TV show about PKU presented by Dr. Leonard Taitz, possibly made in the '80s.

If the videos will not open in your usual webbrowser please try another one.

Please see
https://aecom.com.es/fenilalanina-medir-metodo-dr-guthrie/
and
https://aecom.com.es/pku-progrrama-tv/

The location of members worldwide as of Jan. 1, 2024, is shown in the picture on the right. Countries/states with at least one member are shown in blue, others in grey.

How do I become a member?

Please read this  and subsequently click on the button Member application.

Why should I join as a member?

As a member you are entitled to see the privileged pages containing specific news items, a monthly neonatal screening literature service and a discount to ISNS-related conferences. Under certain conditions you may apply for travel grants to such conferences. Having access to the on line membership directory you have easier access to other members sharing specific interests.

The ISNS supervises a journal, the International Journal of Neonatal Screening, published by MDPI, Basel, Switzerland.
For information, please follow this link.
Members are stimulated to use this journal for their publications.