Comprehensive analysis of off-target and on-target effects resulting from liver-directed CRISPR-Cas9-mediated gene targeting with AAV vectors.

Comprehensive genome-wide studies are needed to assess the consequences of adeno-associated virus (AAV) vector-mediated gene editing. We evaluated CRISPR-Cas-mediated on-target and off-target effects and examined the integration of the AAV vectors employed to deliver the CRISPR-Cas components to neonatal mice livers. The guide RNA (gRNA) was specifically designed to target the factor IX gene (F9).

Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.

Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death generally occurs <1 year of age. There is no cure for IOPD.

Interaction of genetic variation at ADH1B and MLXIPL with alcohol consumption for elevated serum urate level and gout among people of European ethnicity.

Background: Alcohol consumption is a risk factor for hyperuricaemia and gout. Multiple single-nucleotide polymorphisms (SNPs) have been identified as associated with both alcohol consumption and serum urate or gout in separate genome-wide association studies (GWAS). This study aimed to identify and characterise interactions between these shared signals of genetic association and alcohol consumption for serum urate level, hyperuricaemia, and gout.

Daily Hospital Emerging Infectious Disease(EID) Workflow & Data Processing Automation.

Following the onset of the covid pandemic two years ago, the Ministry of Health(MOH)'s required all health care cluster groups to provide daily reporting of the emergency department as well as the inpatient situation in the respective healthcare institutions for oversight of the covid situation. In view of the improvements in the data availability and relief of the tedious manual collation, DAO was entrusted with the task to help enable and setup the standardized report and generation process moving forward.

Re-Engineering Data Processing Workflow to Automate Abbreviations Audit of Clinical Documentation.

In KK Women's and Children's Hospital (KKH), clinical case notes audits are conducted quarterly for compliance of approved acronym usage. Existing process involves the retrieval of mixed hardcopy and electronic case notes for referencing manually to the list of approved abbreviations by clinical coder. Through the use of process re-engineering and excel application, audit coverage can thus be expanded with reduction in human dependency and errors with significant resultant savings in time spent.