MEDomics Performs The First NEXTGEN Sequencing Mini Genome Clinical Test.

MEDomics Performs The First NEXTGEN Sequencing Mini Genome Clinical Test.

The diagnosis of mitochondrial disease by massive sequencing of a girl's complete “MINI GENOME” yields clinical benefits. Personalized medicine is enhanced by the revolutionary NEXTGEN sequencing. Visit MEDomics at www.medomics.com

MEDomics, LLC, has recently completed its first set of novel MitoDx personalized medicine tests for the diagnosis of mitochondrial diseases. “The first MitoDx test was performed on a young girl (referred to as Ann) with mitochondrial disease and hypoglycemia”, says Steve Sommer, MD, PhD, Founder and Medical Director of MEDomics. Ann had episodic vomiting that lasted hours or even days. She often had periods of lethargy and fatigue. Ann was sensitive to both heat and cold, and had poor muscle tone and poor coordination. She has had multiple hospitalizations and almost died. After inconclusive testing and several misdiagnoses, Ann was ultimately referred to Richard Boles, MD, a specialist in pediatric mitochondrial disease at Childrens Hospital Los Angeles where she was diagnosed clinically with probable mitochondrial disease.

To Dr. Sommer’s knowledge, Ann received the first clinical whole genome diagnostic test using NextGen sequencing in a government CLIA-certified clinical laboratory. Ann’s entire mitochondrial genome was sequenced, not once or twice, but thousands of times. The revolutionary SOLiD NextGen sequencing platform developed by Life Technologies was used for testing because of its low error rate and high throughput. This rigorous sequencing of mitochondrial DNA by MitoDx can detect mixtures (heteroplasmy) of normal and mutant DNA even when the mutant or normal form is present at very low levels. This allows mitochondrial disease to be evaluated much more sensitively in an accessible tissue like blood or saliva.

The MEDomics team of experts, provides interpretation of the functional significance of detected mutations. This comprehensive test offers exceptionally high diagnostic utility for suspected mitochondrial disease, enabling potentially lifesaving therapy and accurate risk counseling.

Richard Boles, MD, the Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles says, “MitoDx has confirmed the patient’s clinical diagnosis of probable mitochondrial disease. The MitoDx diagnosis of mitochondrial disease has helped Ann and her family in the following ways:


* the family now has a diagnosis synergistically supported by clinical and laboratory evidence
* the location of the putative mutation suggests that Ann’s life-threatening hypoglycemia will improve as she gets older
* Ann’s clinical management will be modified
* Ann’s asymptomatic sister can be tested to assess the likelihood that she will have symptomatic mitochondrial disease in the future
* other family members, including Ann’s aunt, can be tested to determine their risk of having a child with mitochondrial disease. “


Says Carolyn Buzin, PhD, a mutation expert in mitochondrial diseases, “Mitochondria are the “power plants” of the cell, providing energy for cellular processes, including growth and metabolism. Mutations in mitochondrial genes may decrease energy production and affect multiple organs. Mitochondrial diseases are much more common than originally thought, with a prevalence of about 1:500. In children, mitochondrial diseases are as common as all childhood cancers combined.“

Mitochondrial diseases can be difficult to diagnose. Organs generally have different levels of the mutation, so the symptoms are extremely diverse and depend on which tissues happen to be the most energy compromised in a given family member. The most commonly affected organs are brain, muscle, eye, gastrointestinal tract, and heart. If a given mutation is at high frequency in the brain and intestine, neurological and gastrointestinal symptoms may predominate; if the mutation is at high frequency in the muscle and intestine in a sibling, neuromuscular and gastrointestinal symptoms may predominate.

Dr. Sommer says, “While there is no cure as yet, the diagnosis of mitochondrial disease can save lives by enabling effective treatment. Current treatment involves increasing available energy, decreasing energy stressors, and tissue-specific treatments.”

Mitochondrial disease may arise from new mutations or may be inherited from the mother. Since mitochondrial DNA is not parceled out evenly during egg formation, some children may get a large dose of the mutated DNA, causing severe illness, while others may get a smaller dose, causing milder symptoms or none at all.
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