We have created two isogenic iPSC lines from fibroblasts of a healthy male donor of European ancestry. The cell lines express common pluripotency markers, are free of chromosomal aberrations and are able to differentiate into cells of all three germ layers. These iPSC are now a resource for genome editing with the aim of creating models of genetic disorders without having to depend on patient cells.
View Article and Find Full Text PDFNon-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3'-end of SRCAP using CRISPR/Cas9 technology. Both cell lines are pluripotent, differentiate into the 3 germ layers and contain no genomic aberrations or off-target modifications.
View Article and Find Full Text PDFMailed at-home stool testing offers a promising strategy for overcoming barriers to colorectal cancer (CRC) screening in vulnerable populations. This paper evaluates the facilitators and barriers of successful implementation of a mailed fecal testing program among Medicaid populations within a health department setting. Interviews were conducted with key informants involved in intervention start-up and implementation tasks.
View Article and Find Full Text PDFBackground: Mailed reminders to promote colorectal cancer (CRC) screening by fecal immunochemical testing (FIT) have been shown to be effective in the Medicaid population, in which screening is underused. However, little is known regarding the cost-effectiveness of these interventions, with or without an included FIT kit.
Methods: The authors conducted a cost-effectiveness analysis of a randomized controlled trial that compared the effectiveness of a reminder + FIT intervention versus a reminder-only intervention in increasing FIT screening.
GenomeConnect, the NIH-funded Clinical Genome Resource (ClinGen) patient registry, engages patients in data sharing to support the goal of creating a genomic knowledge base to inform clinical care and research. Participant self-reported health information and genomic variants from genetic testing reports are curated and shared with public databases, such as ClinVar. There are four primary benefits of GenomeConnect: (1) sharing novel genomic data-47.
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