Shamima Rahman

This study compares AAV9 and AAV-F capsids for treating PDHD in mice, finding AAV-F improves survival and enzyme activity at lower doses but causes motor impairments.

This study demonstrates that AAV9-mediated gene therapy prevents liver dysfunction in a mouse model of DGUOK deficiency.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

This study identifies the cellular specificity of Leigh syndrome genes using transcriptomic analyses and finds enrichment in neuronal cells and pre-synaptic structures.

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.