Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for , , and .
View Article and Find Full Text PDFBackground: Many nursing curricula lack human-centered design (HCD) learning opportunities, and minimal evidence exists about HCD educational outcomes.
Purpose: The study explored the effects of HCD experiential learning activities on graduate nursing students.
Methods: The quasi-experimental mixed-method design employed an explanatory approach.
There are contradicting perspectives regarding autistics' ability to be creative. Some researchers cite autistics' underlying social communication and interaction differences, fixated interests, and inflexible patterns as fundamentally inhibiting creativity. However, many autistics refute this mindset and produce creative works as painters, sculptors, photographers, and graphic artists.
View Article and Find Full Text PDFPurpose: Intravitreal delivery of therapeutic transgenes to the retina via engineered viral vectors can provide sustained local concentrations of therapeutic proteins and thus potentially reduce the treatment burden and improve long-term vision outcomes for patients with neovascular (wet) age-related macular degeneration (AMD), diabetic macular edema (DME), and diabetic retinopathy.
Methods: We performed directed evolution in nonhuman primates (NHP) to invent an adeno-associated viral (AAV) variant (R100) with the capacity to cross vitreoretinal barriers and transduce all regions and layers of the retina following intravitreal injection. We then engineered 4D-150, an R100-based genetic medicine carrying 2 therapeutic transgenes: a codon-optimized sequence encoding aflibercept, a recombinant protein that inhibits VEGF-A, VEGF-B, and PlGF, and a microRNA sequence that inhibits expression of VEGF-C.