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
- 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
- Quick-Mitome is updated with Exomiser V10.1, ID de-identification, WES and WGS data support
- ClinVar style variant submission and curation system version 2 is released
- The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium
- The “Mitochondrial Disease Gene Curation Expert Panel” by MSeqDR Consortium
- MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium