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Webinar

World View 2024 - An international summit on Newborn Screening

Streamed live across the world during June 2024, Newborn Screening World View gathered together international thought leaders in newborn screening, providing the whole newborn screening community a unique chance to Learn, Share and Develop.

The 3 day agenda focused on Activating Newborn Screening Around the World, Redefining Newborn Screening Practices and The Future Shape of Newborn Screening. With over 1100 participants online and 90 countries represented, this page provides the opportunity to watch the presentations on demand over the entire 3 days.

Revvity does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations please consult your local health care professionals.

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Day 1 - Activating newborn screening

Greetings from international society for neonatal screening - Jim Bonham, UK

WHO progress on maternal and newborn health globally - Anshu Banerjee, WHO, Switzerland

MLD family journey "Nala & Teddi" - Ally Wallace, UK

Convince governments to act - Carmencita Padilla, Philippines

Partnerships & advocacy to address the sickle cell funding paradox - Hon. Jane Ruth Aceng, Minister of Health, Uganda

Leveraging the HIV DBS infrastructure for NBS in Uganda - Charles Kiyaga, Uganda

Unitaid: Saving lives through health innovation - Kelsey Barrett, Switzerland

Round table - How to accelerate access of newborn health innovations in LMICs - Hon. Jane Ruth Aceng (MOH), Anshu Banerjee (WHO), Carmencita Padilla, Kelsey Barrett (UNITAID), Jim Bonham (ISNS)

Day 2 - Redefining newborn screening practices

Improving the lab efficiencies

Effective and efficient newborn screening for X-linked adrenoleukodystrophy: one extraction with two injections - Mei Baker, USA

Tennessee's progress in implementing steroid profiling for congenital adrenal hyperplasia - Lauren Tyler, USA

Transitioning from lab developed tests to NeoBase™ 2 - Sarah Smith, UK

Software integration workflow improvements in the NBS laboratory - Brendan Reilly, USA

Q&A session - Improving the lab efficiencies

New disorders in consideration

Newborn screening for MLD: Methodology and results of pilot studies across 4 countries - Mike Gelb, USA

MLD: A treatable disease, the perspective of a neuropediatrician - Francesca Fumagalli, Italy

Michigan's experience adding guanidinoacetate and creatine for GAMT deficiency to the NeoBase™ 2 assay - Krystyna Weiss-Pawlak, USA

Implementation of MPS II testing in a high throughput newborn screening laboratory - Patricia Ryland, USA

Q&A session - New disorders in consideration

Day 3 - The future shape of newborn screening

World programs expanding the menu to SCID, SMA, and LSDs

Building tomorrow: The professional journey of an SMA scientist in the newborn screening era - Vanessa Romanelli, Brazil

Implementation of the Eonis™ Q system for newborn screening for severe combined immunodeficiency and spinal muscular atrophy in Catalonia - Ana Argudo-Ramirez, Spain

Thailand government national mandate: Expanding to cover IEMs and SMA - Khunton Wichajarn, Thailand

National implementation of LSD NBS in Korea - Sung-Eun Cho, Korea

Q&A session - World programs- expanding the menu to SCID, SMA, and LSDs

Next potential expansion candidates on molecular NBS

The case for universal CMV screening: How Minnesota became the first state in the USA to screen all newborns for congenital CMV infection - Mark Schleiss, USA

One year of universal screening for cytomegalovirus in Minnesota - Carrie Wolf, USA

Toward prospective newborn screening for angelman, prader-willi and DUP 15q syndromes; validation of a DNA methylation-based test - Kate Kucera, USA

Q&A session - Next potential expansion candidates on molecular NBS

NBS genomics

Newborn screening using whole genome sequencing: The generation study - David Bick, UK

Experience from a United States statewide newborn sequencing study: Early check - Holly Peay, USA

Improving screening performance with 2nd tier NGS - Expanding newborn screening towards genomics - Asbjørg Stray-Pedersen, Norway

Considerations of ethics and equity when using genomics in newborns - Amy Gaviglio, USA

Round table: NBS genomics - David Bick, Holly Peay, Asbjørg Stray-Pederson, Amy Gaviglio