newborn screening 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. Monogenic Conditions Detected by Panel Sequencing of General Newborn Population Researchers demonstrated that targeted gene panel sequencing is an effective first-tier method for newborn screening, providing an avenue to expand the conditions considered. Rapid Sequencing Yields High Newborn Epilepsy Diagnostic Rates in Gene-STEPS Study Premium Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake. BabySeq Project Unearths Actionable Genetic Variants Impacting Infants, Parents Researchers saw monogenic disease-related mutations in almost 11 percent of infants' genomes, prompting further testing and management, including for family members. 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. Mar 20, 2023 ACMG Panel Discusses Potential, Pitfalls of Precision Medicine Following Newborn Screening Mar 15, 2023 At ACMG, GUARDIAN Newborn Sequencing Study Reports High Uptake Rate Jan 25, 2023 PlumCare RWE Taps Lifebit to Scale Rady-Backed Newborn Sequencing Screening Program in Greece Jan 12, 2023 Rebranded GeneDx Bets Future on Whole-Exome, Whole-Genome Sequencing in Pediatric Rare Disease Premium Dec 16, 2022 Molecular SMA Testing in Newborns on the Rise as Countries Add Screening Programs Premium Dec 13, 2022 Genomics England, NHS to Lead £105M UK Study with Aim to Sequence 100K Newborns Premium Nov 17, 2022 Turkish MDx Startup Elm Genomics Rolls Out Newborn Sequencing Test Premium Nov 14, 2022 PerkinElmer Nabs Authorization for Molecular SCID/SMA Test in Newborns Oct 10, 2022 Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps Premium Oct 6, 2022 GUARDIAN Study to Explore Newborn Screening by Genome Sequencing in 100K Babies in NYC Premium Oct 5, 2022 Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study Oct 3, 2022 Rady Children's, PlumCare RWE Partner to Expand WGS-Based Newborn Screening Program to Greece Aug 25, 2022 BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation Premium Aug 2, 2022 Genomenon to Curate Genes for Rady Children's BeginNGS Newborn Screening Panel May 6, 2022 Rady Children's to Launch Consortium for Rapid Whole-Genome Sequencing of Newborns Mar 31, 2022 BabySeq Newborn Screening Project Aims For Increased Diversity in Second Phase Premium Feb 23, 2022 EU Project Screen4Care Will Apply Sequencing, AI to Screen Newborns for Rare Diseases Premium Feb 3, 2022 Australian Researchers Adapt Melt Curve Methylation Test for Infant Rare Genetic Disorder Screening Premium Oct 18, 2021 Analysis Finds Sibling Cascade Testing Could Be Cost Effective in Pediatric Cancer Jul 12, 2021 Metabolomic Profiling Diagnoses Inborn Errors of Metabolism at Higher Rate Than Traditional Approach Load More Breaking News Standard BioTools, SomaLogic to Merge Arima Genomics, Protean BioDiagnostics Launch 3D Genomics Cancer Testing Joint Venture Pathnostics UTI Test Nabs New York State Approval NanoString, A*Star, Next Level Genomics to Launch Spatial Biology Laboratory in Singapore FDA Approves Entrogen's RAS Mutation Detection Kit as CDx for Vectibix 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.