Michelle Bisschoff
A5092569427- Biochemical and Molecular Research
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
North-West University
2023-2025
Abstract King-Denborough Syndrome (KDS) is a congenital myopathy (CM) characterised by myopathy, dysmorphic features and susceptibility to malignant hyperthermia. The objective of this study was investigate the genotype-phenotype correlation in Black African patients presenting with CM, specifically those KDS-like phenotypes, who remained undiagnosed for over 25 years. A cohort 67 CM studied, whom 44 were clinically evaluated diagnosed KDS. Whole-exome sequencing (WES) performed as part an...
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the occurring electron transfer flavoprotein-ubiquinone oxidoreductase gene ( ETFDH) . Recent evidence potential founder for MADD South African (SA) population, initiated this extensive investigation. As part International Centre Genomic Medicine Neuromuscular Diseases study, we recruited a cohort patients diagnosed...
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the occurring ETFDH . Recent evidence potential founder for MADD South African (SA) population, initiated this extensive investigation. As part ICGNMD study, we recruited a cohort patients diagnosed academic medical centres across SA over three-year period. The aim was to extensively profile clinical, biochemical,...