New Test For Genetic Diseases Allows For Earlier Detection
The diagnosis of mitochondrial disease by massive sequencing of a girl's complete “MINI GENOME” yields
clinical benefits. Personalized medicine is enhanced by NEXTGEN sequencing.
Azusa, CA (PRWEB) January 19, 2010 -- 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.
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.”
About MEDomics:
MEDomics is a molecular diagnostic laboratory founded in 2008 by Steve S. Sommer, MD, PhD, with the mission of providing
Mutation Expert-based Diagnosis (“MED”) to support the physician in delivering personalized medicine based on genomic
analyses of the patient’s DNA (“omics”). The mutation experts at MEDomics provide unparalleled quality interpretation to aid
the practicing physician.
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The diagnosis of mitochondrial disease by massive sequencing of a girl's complete “MINI GENOME” yields
clinical benefits. Personalized medicine is enhanced by NEXTGEN sequencing.
Azusa, CA (PRWEB) January 19, 2010 -- 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.
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.”
About MEDomics:
MEDomics is a molecular diagnostic laboratory founded in 2008 by Steve S. Sommer, MD, PhD, with the mission of providing
Mutation Expert-based Diagnosis (“MED”) to support the physician in delivering personalized medicine based on genomic
analyses of the patient’s DNA (“omics”). The mutation experts at MEDomics provide unparalleled quality interpretation to aid
the practicing physician.
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