Speedy diagnosis for mitochondrial disorders

A team led by Sihoun Hahn and Jay Shendure from Seattle Children’s Research Institute and the University of Washington present a molecular diagnostic tool for mitochondrial disease in their article titled “Next generation sequence analysis for mitochondrial disorders”, recently published in Genome Medicine. This is the 100th article published in Genome Medicine, BioMed Central’s premier medical journal, since its launch in January 2009.

Next-generation sequencing technologies herald an era when personal genome information may be used to guide medical decisions. While complete genome sequences are not yet cost-effective for routine clinical use, methods which target specific genomic regions have already become practical for disease diagnosis.  

The method described by Hahn and colleagues uses array-based technology and genetic sequencing to screen patients’ DNA for variations in 362 genes which have been associated with mitochondrial disease or mitochondrial function. Thanks to its lower cost and faster turnaround, this approach could replace the protracted tests currently needed to determine some rare mitochondrial mutations and it may also lead to discovery of new mutations and genes which affect mitochondrial function.

Genome Medicine publishes high-quality genomic and post-genomic research that significantly advances our understanding and management of human health and disease.  Thanks to the active involvement of exceptional section editors and editorial board members, Genome Medicine has published a wide range of research articles, reviews, meeting reports and commentaries in the past ten months, and we look forward to continued growth and involvement with the research community.

Read the article by Hahn and colleagues, register for article updates and submit your next outstanding research manuscript to Genome Medicine.  For quick feedback on the suitability of your manuscript, we welcome presubmission enquiries.

Rebecca Furlong
Assistant Editor, Genome Medicine

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