Published on Jan 25, 2022 in CHOP News Researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) have developed a comprehensive sequencing test specifically for mitochondrial DNA (mtDNA). This new clinical […]
CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease
CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful […]
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Abstract Objective To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Design Cohort study. Setting National Health Service, England, including secondary and tertiary care. […]
Vitamin D Deficiency Can Impair Muscle Function
Vitamin D deficiency may impair muscle function due to a reduction in energy production in the muscles, according to a mouse study published in the Journal of Endocrinology. Vitamin D deficient […]
A glimmer of hope: Virginia Tech researcher creates cell lines to help treat mitochondrial diseases in children
The mitochondrion has garnered quite the reputation for its role as the “powerhouse of the cell.” These tiny, but mighty organelles play various life-sustaining roles, from powering our own cells […]
