The WOCA negative pressure wound therapy device designed for low resource settings.

Negative Pressure Wound Therapy (NPWT) is a treatment that promotes healing of chronic wounds. Despite high prevalence of chronic wounds in Low- and Middle-Income Countries (LMICs), NPWT devices are not available nor affordable. This study aims to improve chronic wound care in LMICs by presenting the Wound Care (WOCA) system, designed for building, testing and use in LMICs.

Muscle Mass, Muscle Strength, and Health-Related Quality of Life in Kidney Transplant Recipients: Results of the TransplantLines Biobank and Cohort Study.

Introduction: Muscles are crucial for daily activities, and kidney transplant recipients (KTRs) often have reduced muscle mass and strength. We aimed to investigate the potential relationship of muscle mass and strength with physical health-related quality of life (HRQoL) in KTRs.

Methods: Data from the TransplantLines Biobank and Cohort Studies were used.

GREGoR: Accelerating Genomics for Rare Diseases.

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.

Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease.

Introduction: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive clinical genetic testing.