Los Angeles - The first test results are in for a new genetic test that has the potential to help millions live a healthy life. Three- year-old "Gwynnie" and her parents will finally learn the results. Story with parent & child affected by mitochondrial disease, demonstration of the new genetic sequencing test & interviews of Richard Boles, M.D. of Children's Hospital Los Angles & Steve Sommer, M.D., Ph.D, developer of the new test.
Mitochondrial diseases - little-known and often misdiagnosed, they affect millions of people, especially children with devastating consequences. But a new and more sensitive test than was ever available can provide earlier, more accurate diagnosis and allow potentially life- saving treatment to begin sooner.
MEDomics, LLC (www.medomics.com)
The MEDomics MitoDx(TM) test detects and interprets essentially all mutations within the mitochondrial DNA (mtDNA) genome. MEDomics is the first laboratory to offer a true clinical genomic diagnostic test utilizing NextGen sequencing. The power of this new technology makes the mitochondrial test much more accurate than any test currently available and will aid in the detection of mitochondrial disease.
Mitochondria are the “power plants” of the cell. Each cell contains hundreds to thousands of mitochondria, providing energy for all cellular processes, including growth, division, and metabolism. Each mitochondrion contains several to a few dozen mtDNA genomes. Although the nuclear DNA makes up the chromosomes and provides most of the body’s “design plan” for each individual, the about 16,000 DNA bases composing the mitochondrial genome encodes 37 genes that are vitally important for energy production.
Individuals receive their mtDNA from their mothers. Thus, diseases caused by mutations in the mtDNA are generally either inherited from the mother or are caused by a new mutation in the individual. Mutations in the mtDNA may decrease energy production, with damaging effects on many different organs in the body.
Mitochondrial diseases can affect multiple organs and generate a variety of symptoms. According to Dr. Sommer, “This new test improves the utilization of blood to screen for suspected mtDNA disease. Those patients with likely disease should be tested further. As a result, fewer patients with mitochondrial DNA disease should escape detection.” The NextGen mitochondrial genome test for mtDNA mutations can offer physicians confirmation of a possible mitochondrial disease diagnosis, enable rational therapy decisions, provide guidance on the prognosis of disease, and allow for accurate risk counseling.
About MEDomics:
MEDomics was founded in July, 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis to support the physician in delivering personalized medicine based on the patient’s DNA. The mutation experts at MEDomics utilize bioinformatics, clinical genetics, and mutation analysis to provide the ultimate in interpretation by experts who devote their careers to research, clinical genetics and molecular diagnosis.
Dr. Sommer is a Founding Fellow of the American College of Medical Genetics with 20 years’ experience in Molecular Diagnosis.
With Richard Boles, MD, the Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles, as a distinguished clinical consultant for MEDomics on mitochondrial diseases.
MEDomics, LLC
426 N. San Gabriel Ave.
Azusa, CA 91702
www.medomics.com
