Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting variants within or near that gene. This approach overlooks causal variants with trans-acting effects on splicing transcriptome-wide, such as variants impacting spliceosome function.

Protracted Tuberculosis Outbreak in a Pasifika Diaspora in Western Sydney, Australia: The Importance of Community Engagement.

A prolonged tuberculosis outbreak, linked by whole-genome sequencing, occurred in a Pasifika extended family over 10 years (2013-2022) in Sydney, Australia. Despite Australia's low tuberculosis incidence, social and cultural complexities, and coronavirus disease 2019 (COVID-19) disruptions exacerbated transmission. Control required culturally sensitive, family-centered care and robust health system engagement.

Multi-functional near-infrared fluorescent polymer dot-siRNA for gene expression regulation.

Regulation of gene expression in eukaryotic cells is critical for cell survival, proliferation, and cell fate determination. Misregulation of gene expression can have substantial, negative consequences that result in disease or tissue dysfunction that can be targeted for therapeutic intervention. Several strategies to inhibit gene expression at the level of mRNA transcription and translation have been developed, such as anti-sense inhibition and CRISPR-Cas9 gene editing.

Human Health Surveillance During Animal Disease Emergencies: Minnesota Department of Health Response to Highly Pathogenic Avian Influenza Outbreaks, 2015 and 2022-2023.

Objectives: Highly pathogenic avian influenza (HPAI) poses an occupational risk for poultry workers, responders, and others in contact with infected birds. The objective of this analysis was to describe HPAI surveillance methods and outcomes, and highlight the challenges, successes, and lessons learned during the Minnesota Department of Health's (MDH's) public health response to HPAI outbreaks in Minnesota poultry flocks in the years 2015 and 2022-2023.

Methods: During both outbreaks, MDH staff attempted to contact all potentially exposed people and conduct a standardized interview.