معرفی
Dr. Charlotte Alston is a Researcher at Newcastle University, affiliated with the Institute of Genetic Medicine within the Faculty of Medical Sciences. Her research focuses on mitochondrial diseases, particularly genetic and molecular mechanisms underlying these disorders. She has contributed significantly to understanding the clinical and biochemical features of mitochondrial disorders, including Leigh syndrome, complex I deficiencies, and variants in genes like ACO2 and PTPMT1. Her work integrates proteomics, genomics, and multi-omic approaches to identify diagnostic biomarkers and refine clinical guidelines.
Key research interests include mitochondrial dysfunction in neurological and metabolic conditions, the role of genetic mutations in disease pathogenesis, and translational applications of genomic technologies in diagnostics. Dr. Alston collaborates extensively on projects defining diagnostic standards for mitochondrial diseases and investigating the impact of genetic variants on cellular processes.
Her publications highlight a focus on case studies, genetic analysis of novel variants, and the development of diagnostic tools. Recent work emphasizes the clinical and molecular heterogeneity of mitochondrial disorders and their implications for patient care. Despite no explicitly listed awards, her prolific publication record underscores her expertise in this specialized field.