Long-read sequencing yields 4.5% more diagnoses in unresolved rare disease cases
New genetic test solves mysteries for hundreds of patients with rare disorders
A systematic review of 9 studies found that long-read whole genome sequencing (lrWGS) provided a definitive diagnosis in 4.5% of 646 previou…
A review of 646 cases shows long-read whole genome sequencing finds answers where standard tests failed, identifying structural changes and …
Mechanical shear stress influences endothelial RNA methylation in atherosclerosis and pulmonary arterial hypertension
Mechanical forces on blood vessel cells may change how they repair themselves
This narrative review examines the interplay between hemodynamic shear stress and epitranscriptomic mechanisms in endothelial cells. The aut…
New review suggests blood flow forces might alter how RNA works in cells lining our vessels, potentially affecting heart and lung health.
Autologous regenerative cell therapy shows 41% cure rate and 55% improvement rate for stress urinary incontinence
Cell therapy shows promise for stress urinary incontinence
This systematic review and meta-analysis of 591 patients found pooled cure and improvement rates of 41% and 55% for autologous regenerative …
A new analysis finds that regenerative cell therapy may help women with stress incontinence, with 41% cured and 55% improved.
FAM13A variants influence tissue destruction in COPD and fibrotic remodeling in pulmonary fibrosis
New research links FAM13A gene to lung disease tissue changes
This narrative review examines the role of FAM13A in chronic obstructive pulmonary disease and pulmonary fibrosis. The authors associate FAM…
A review suggests the FAM13A gene plays different roles in lung diseases like COPD and pulmonary fibrosis, offering clues for future treatme…
APOA5 p.R223C variant linked to substantially higher fasting triglycerides in a Chinese family
Likely Pathogenic APOA5 Variant Linked to High Triglycerides in Chinese Family
This guideline presents a case report of a Chinese family with an APOA5 p.R223C variant. Fasting triglyceride levels were substantially high…
A case report suggests a specific APOA5 variant causes high triglycerides in some Chinese family members, though more research is needed.
Host factors influence viral entry and replication in HPIV infected infants, elderly, and immunocompromised individuals
Host factors influence how the parainfluenza virus infects vulnerable people
This narrative review discusses host factors influencing viral entry, replication, assembly, release, and innate immunity evasion in human p…
A review explains how host factors affect viral entry and immunity in infants, the elderly, and immunocompromised individuals with respirato…
X chromosome inactivation escape and skewing are discussed in a narrative review covering autoimmune, neurodevelopmental, cardiovascular, and cancer conditions
X chromosome inactivation escape patterns in female cells
This narrative review discusses X chromosome inactivation escape and skewing across autoimmune disorders, neurodevelopmental disorders, card…
A narrative review explores how X chromosome inactivation escape and skewing relate to autoimmune, neurodevelopmental, cardiovascular, and c…
Narrative review of CRISPR-Cas9 and Fanzor gene therapies for sickle cell disease
New CRISPR gene therapies for sickle cell disease face lingering technology limits
This narrative review synthesizes evidence on CRISPR-Cas9-based gene therapies and the Fanzor system for sickle cell disease. The authors no…
A review of CRISPR-Cas9 gene therapies for sickle cell disease notes that limitations in the technology still persist.
Case report and review of duodenal malignant glomus tumor with novel molecular variants
Rare duodenal tumor case highlights need for molecular testing
This review and case report describes a 47-year-old woman with duodenal malignant glomus tumor. It identifies two novel class III variants o…
A single case of a rare duodenal tumor shows how molecular profiling can guide diagnosis and management of these uncommon cancers.
Meta-analysis finds germline LTS and somatic TERT variants are mutually exclusive in thyroid cancer and melanoma
Two different cancer drivers do not appear together in these tumors
This meta-analysis of retrospective observational cohorts examined germline long-telomere syndrome variants and somatic TERT promoter altera…
A large review of nearly 2,000 adults with thyroid cancer or melanoma found that two specific genetic changes never occur in the same tumor.
Meta-analysis identifies rare gene-trait associations across 1.2 million individuals in global biobanks
Scientists found many rare gene links to health traits using global data from millions of people
This meta-analysis of gene-based data from over 1.2 million individuals across diverse ancestries examines rare coding variation. The author…
A big study looked at rare gene changes in over 1.2 million people from many backgrounds. It found many links to diseases that single groups…
Meta-analysis finds sex-specific genetic variant linked to platelet aggregation
Genetic variant affects blood clotting differently in women and men
This meta-analysis of three cohorts identified a genome-wide significant sex interaction for variant rs116725046 in LINC00702 region, associ…
A genetic variant has opposite effects on blood clotting in women and men, which could change how we assess thrombotic risk.