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newborn sequencing

Research Triangle Institute Partners With GeneDx, Illumina for Expanded Newborn Screening Study

The study will offer whole-genome sequencing and genetic risk scores for type 1 diabetes for newborns born in North Carolina.

Experts Endorse Universal Genomic Screening of Monogenic, Treatable Diseases in Newborns

This survey recorded responses from 238 experts and found that 85 percent of them recommend a list of 25 genes-disease pairs to be screened in newborns. 

ACMG Panel Discusses Potential, Pitfalls of Precision Medicine Following Newborn Screening

The panel focused on access and equity issues of precision medicine, especially ones that arise as sequencing is folded into newborn screening programs.

At ACMG, GUARDIAN Newborn Sequencing Study Reports High Uptake Rate

The researchers have already identified babies with G6PD deficiency who would have been missed by standard newborn screening.

PlumCare RWE Taps Lifebit to Scale Rady-Backed Newborn Sequencing Screening Program in Greece

Lifebit will help PlumCare RWE connect data from BeginNGS Greece to global research cohorts as the program moves past its pilot phase.

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The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.