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Seattle Children's Hospital

Newly Funded NIH Genome Characterization Centers Aim to Elucidate Human Somatic Mosaicism
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The five centers, funded as part of NIH's Somatic Mosaicism across Human Tissues Network, will analyze over 2,200 samples to study somatic variants in humans.

Pacific Biosciences, GeneDx, UW Collaborate on Google-Funded Study of WGS in Neonatal Care

Google will contribute expertise on informatics methods and provide an undisclosed amount of funding, including for reagents, to the project.

SeqFirst Results Highlight Diagnostic Gains From Rapid Genome Sequencing in Critically Ill Newborns
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Data from the first phase of the project showed that the conventional genetic testing approach would have missed 42 percent of infants diagnosed in the study.

New Epigenomic Biomarker Could Predict CAR T-Cell Therapy Resistance in Advanced Childhood Leukemia
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At AACR, researchers described how pediatric ALL patients who don't respond to anti-CD19 CAR T-cell therapy have cancers with a unique, stem cell-like epigenome.

Genomic Answers for Kids Project Advances Long-Read Sequencing for Rare Disease Testing
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The GA4K program, run by Children's Mercy Research Institute, aims to build a testing framework for pediatric patients with undiagnosed rare disease.

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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.