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world view 2024 on newborn screening
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.

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Day 1 - Activating newborn screening

jim bonham

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

Anshu Banerjee

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

Ally Wallace

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

Carmencita Padilla

Convince governments to act - Carmencita Padilla, Philippines

Jane Ruth Aceng

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

Charles Kiyaga

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

Kelsey Barrett

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

Round table

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

mei baker

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

Lauren Tyler

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

Sarah Smith

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

Brendan Reilly

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

Q&A Session video (Wed 1)

Q&A session - Improving the lab efficiencies

New disorders in consideration

Mike Gelb

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

Francesca Fumagalli

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

Krystyna Weiss-Pawlak

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

Patricia Ryland

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

Q&A Session video (Wed 2)

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

Vanessa Romanelli

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

Ana Argudo-Ramirez

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

Khunton Wichajarn

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

Sung-Eun Cho

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

Q&A Session video (Thu 1)

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

Next potential expansion candidates on molecular NBS

Mark Schleiss

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

Carrie Wolf

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

Kate Kucera

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 video (Thu 2)

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

NBS genomics

David Bick

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

Holly Peay

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

Asbjorg Stray-Pedersen

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

Amy Gaviglio

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

nbs genomics - round table

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