New publications on clinical review of mitochondrial disease, in Current Genetic Medicine Reports
May 2, 2018 Dr. Lishuang SHEN 0
Congratulations to Colleen, Elizabeth, and Marni on two great up-to-date clinical review of Mitochondrial Disease just published in Current Genetic Medicine Reports!
- Purpose of Review Primary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well … Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies.
2. Mitochondrial Genomics: A Complex Field Now Coming of Age
The groundwork for mitochondrial medicine was laid 30 years ago with identification of the first disease-causing mitochondrial DNA (mtDNA) mutations in 1988. Three decades later, mutations in nearly 300 genes involving every possible mode of inheritance within both nuclear and mitochondrial genomes are now recognized to collectively comprise the largest class of inherited metabolic disease, affecting at least 1 in 4300 individuals across all ages. Significant progress has been made in recent years to improve understanding of mitochondrial biology and disease pathophysiology.
Categories: MSeqDr.org News, updates, media report
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen
- MSeqDr joins FAIRsharing – A curated, informative and educational resource on data and metadata standards
- Quick-Mitome version 2 with new annotations, workflow, and tutorial
- Mondo Disease Ontology is coming to MSeqDR
- Disease Portal for mitochondrial diseases received more disease entries
- MSeqDR to present tutorial workshop for the 5th year on June 29, at the UMDF Mitochondrial Medicine Symposium
- mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
- Leigh Syndrome Resources at MSeqDR.org
- MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)
- MSeqDR mvTool Documentation