Meredith S. Wright

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial

Rebecca Reimers, Chester Brown, Kee Chan, Tom R. Defay et autres

INTRODUCTION: In the last 60 years, newborn bloodspot screening (NBS) has expanded as a public health intervention from a single severe childhood genetic disease (SCGD) to up to as many as 80 SCGD and testing of ~40 million newborns/year worldwide. However, the …

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Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah K. B. Bick, Sophia M. Adelson, Nils Gehlenborg et autres

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P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education

Brandan Schultz, Rebecca Reimers, Ileana Matta, Liana Protopsaltis et autres

Introduction: Lynch syndrome (LS) was estimated to be 3-5% of all colorectal cancer (CRC.)Molecular diagnosis of LS helps guide CRC surveillance and treatment.Tumor mismatch repair protein immunohistochemistry has been used to "universally" screen for LS since the late 2000s.This has been a …

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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

Stephen F. Kingsmore, Meredith S. Wright, Lauren Olsen, Brandan Schultz et autres

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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection

Stephen F. Kingsmore, Meredith S. Wright, Laurie D. Smith, Yupu Liang et autres

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P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*

Jennifer Schleit, Meredith S. Wright, Lauren Olsen, Eric Blincow et autres

Newborn screening (NBS) dramatically improves outcomes in selected, severe, childhood disorders by identification and treatment at or before symptom onset. We are developing a highly scalable precision medicine delivery platform for all treatable and preventable genetic diseases of early childhood (Begin Newborn …

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P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation*

Eric S. Ontiveros, Liana Protopsaltis, Rebecca J. Baer, Matthew Neil Bainbridge et autres

Quantitative understanding of the causes of infant mortality shapes public health, surveillance, and research investments. However, the contribution of single-locus genetic diseases to infant mortality is poorly understood. Previously, we reported that 46 out of 112 (41%) infant deaths within a large …

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat, Mark R. Battig et autres

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), …

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Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

Mallory J. Owen, Meredith S. Wright, Serge Batalov, Yong-Hyun Kwon et autres

ABSTRACT Infant mortality rates are quite high even in developed countries; in the United States, infant deaths occur approximately 1 in 200 live births. The leading cause of infant mortality is congenital malformation or chromosomal abnormality, which cause roughly 20% of infant …

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Report of two cases of Schaaf‐Yang syndrome: Same genotype and different phenotype

Ana Rodríguez, Katherine Schain, Parul Jayakar, Meredith S. Wright et autres

We report two, genotypically identical but phenotypically distinct cases of Schaaf-Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of children with rare genetic diseases and improve overall health care outcomes.

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Fc-competent multispecific PDL-1/TIGIT/LAG-3 antibodies potentiate superior anti-tumor T cell response

Ri‐Yao Yang, Su Huang, Cai Huang, Nathan S. Fay et autres

The landscape of current cancer immunotherapy is dominated by antibodies targeting PD-1/PD-L1 and CTLA-4 that have transformed cancer therapy, yet their efficacy is limited by primary and acquired resistance. The blockade of additional immune checkpoints, especially TIGIT and LAG-3, has been extensively …

Response to Grosse et al.

Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge et autres

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