Publications by authors named "J A Smythe"
Hematopoietic stem cell gene therapy (HSCGT) is a promising therapeutic strategy for the treatment of neurodegenerative, metabolic disorders. The approach involves the introduction of a missing gene into patients' own stem cells via lentiviral-mediated transduction (TD). Once transplanted back into a fully conditioned patient, these genetically modified HSCs can repopulate the blood system and produce the functional protein, previously absent or non-functional in the patient, which can then cross-correct other affected cells in somatic organs and the central nervous system.
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- Cardiomyopathy is a diverse heart condition often linked to genetic factors, with over 50% of cases having unknown genetic causes.
- This study analyzes genetic data from 1,216 individuals with cardiomyopathy to investigate the role of rare tandem repeat expansions (TREs) in the disease.
- The research reveals that these rare TREs are more common in affected individuals, particularly in specific genes that may be silenced through DNA methylation, influencing heart function.
Article Synopsis
- Mesenchymal stromal cells (MSCs) show potential as a new therapy for diabetic kidney disease (DKD), but clinical trials have faced challenges.
- In a phase 1b/2a trial involving 16 adults with type 2 diabetes, a low dose of MSCs (ORBCEL-M) was found to be safe and well-tolerated, with no serious adverse events linked to the treatment.
- Compared to a placebo group, those receiving ORBCEL-M experienced a significantly slower decline in kidney function, suggesting the need for further studies on this therapy.
Cardiomyopathy has variable penetrance. We analyzed age and sex-related genetic differences in 1,397 cardiomyopathy patients (Ontario, UK) with whole genome sequencing. Pediatric cases (n = 471) harbored more deleterious protein-coding variants in Tier 1 cardiomyopathy genes compared to adults (n = 926) (34.
View Article and Find Full Text PDFBackground: Cellulitis is a common acute skin and soft tissue infection that causes substantial morbidity and healthcare costs.
Aims: To audit the impact on cellulitis management, regimen tolerability and outcomes of switching from outpatient parenteral antimicrobial therapy (OPAT) using intravenous (i.v.