Mitochondrial disease can be hard to diagnose because of the variety of symptoms it
causes, but a new tests could give anxious families the answers they need.
Mitochondrial disease can lead to diabetes, blindness and neurological problems.
It attacks thousands of children every year, but the variety of symptoms makes it
hard to diagnose.
Doctors say catching the disease early prevents serious complications and in
some cases, death.
Now, there's a new test that could give anxious families the answers they need.
Gwynnie Andrews looks like a healthy three-year-old, but her body was sending
off distress signals from day one.
A droopy eye, fatigue, vomiting and flu-like symptoms were misdiagnosed for
nearly two years.
Gwynnie's mom had to rush her to the ER several times.
"She was in severe metabolic decompensation and possibly several hours away
from organ failure and/or sudden death," says Beth Andrews, Gwynnie's mother.
Dr. Richard Boles diagnosed mitochondrial disease - genetic defects in the part
of the cell that produces energy.
The disease can affect multiple organs and produce a variety of symptoms,
making it tough to diagnose.
Now, a new test is creating a clearer picture of the disease.
The test uses saliva or blood samples to look for mutations in any of the 37
mitochondrial genes that are vital for producing energy.
Experts say it's 3000% more sensitive than traditional screening methods.
"MitoDx looks at every single base in that mitochondrial genome, and we don't
just look at it once. We look at it thousands of times," says Dr. Steve Sommer,
founder and president of MEDomics in Azusa, CA.
While there's no cure, early diagnosis can save lives like Gwynnie's.
"Some children can die as a result of complications. After diagnosis and
treatment, she's doing much better," says Dr. Sommer.
Gwynnie gets her blood sugar levels checked daily, snacks frequently and takes
supplements that have kept her out of the hospital since her diagnosis.
About one in 4000 children in the U.S. will develop mitochondrial disease by age
10.
Dr. Sommer says the turnaround time for the mitochondrial test is six to eight
weeks.
RESEARCH SUMMARY
TOPIC: FASTER TEST FOR GENETIC DISEASE
MITOCHONDRIAL DISEASE: Mitochondrial disease is a group of conditions that
result from failures of the mitochondria, which are specialized compartments
found in every cell of the body. According to the United Mitochondrial Disease
Foundation, every 30 minutes, a child is born who will develop a mitochondrial
disease by age 10. Symptoms of mitochondrial disease include loss of motor
control, muscle weakness, muscle pain, gastrointestinal problems, swallowing
problems, poor growth, cardiac disease, liver disease, diabetes, respiratory
complications and more. The wide range of symptoms, experts say, occurs
because mitochondria are responsible for creating more than 90 percent of the
energy needed by the body. The organs most affected by mitochondrial disease
are the brain, heart, liver, skeletal muscles, kidney and the endocrine and
respiratory systems. According to Cleveland Clinic, mitochondrial disease
includes more than 40 identified diseases with different genetic features. The
common factor is that the mitochondria are unable to completely burn food and
oxygen to generate the energy the body needs. For many patients, mitochondrial
disease is caused by a genetic mutation that is inherited. Other patients develop
symptoms from mitochondrial toxins or medicines that affect the mitochondria.
DIAGNOSIS: The wide range of organs affected and different manifestations of
the disease can make diagnosis difficult, experts say. "Because mitochondrial
disease can show up as many different things, and because there's not one
perfect test for mitochondrial disease, diagnosis becomes very difficult," Richard
Boles, M.D., associate professor of the Keck School of Medicine at the University
of Southern California, told Ivanhoe. Doctors often arrive to a diagnosis after a
combination of clinical observations, laboratory tests, brain imaging and muscles
biopsies. Other tests doctors use include echocardiograms, audiology tests and
genetic tests. Once diagnosed, treatment for mitochondrial disease varies from
case to case. Since diseases of the mitochondria incurable, the goal of treatment
is to alleviate symptoms and slow progression of the disease.
NEW GENETIC TEST FOR MITOCHONDRIAL DISEASE: A new lab test called
MitoDx is designed to look for genetic mutations linked to mitochondrial disease
and other genetic conditions. The test requires either a blood or saliva sample
and uses a type of DNA sequencing technology that searches every base pair in
mitochondria. Experts say it's like searching through an entire book looking for
"typos," or mutations. "What this test does it is looks at the mitochondrial DNA
and sequences or determines the genetic code at each of the over 16,000 base
codes within us," Dr. Boles explained. "Not only does it do that, but it looks for
small abnormalities ... [and] indicates a mutation or the genetic change that
causes the disease." The MitoDx test screens for the mutations with about 30-
fold -- or 3,000 percent -- greater sensitivity than comparable traditional tests,
and results take about six to eight weeks to be returned, experts say.
FOR MORE INFORMATION, PLEASE CONTACT:
Steve Sommer, MD, PhD, FACMG President MEDomics
626) 804-3645
Thursday, March 11, 2010
Thursday, February 18, 2010
MEDomics performs the first MitoDx Clinical Test for Mitochondrial Disease
Thursday, February 18, 2010
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
February 18, 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.
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.
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.
Dr. Sommer, Founder, President, and Medical Director of MEDomics, is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents. Carolyn Buzin, PhD, is a MEDomics Senior Scientist, a California licensed Clinical Genetics Molecular Biologist Scientist, and a mutation expert in mitochondrial disease. Richard Boles, MD,
Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles, is a distinguished clinical consultant for MEDomics on mitochondrial diseases.
Dr. Sommer says, “The MEDomics team is unique. MEDomics provides molecular diagnosis by integrating NextGen sequencing with powerful computer analysis and expert clinical interpretation. MEDomics maintains close connections with clinicians and scientists in the mitochondrial disease community.”
For additional information, visit www.medomics.com
#####
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
February 18, 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.
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.
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.
Dr. Sommer, Founder, President, and Medical Director of MEDomics, is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents. Carolyn Buzin, PhD, is a MEDomics Senior Scientist, a California licensed Clinical Genetics Molecular Biologist Scientist, and a mutation expert in mitochondrial disease. Richard Boles, MD,
Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital Los Angeles, is a distinguished clinical consultant for MEDomics on mitochondrial diseases.
Dr. Sommer says, “The MEDomics team is unique. MEDomics provides molecular diagnosis by integrating NextGen sequencing with powerful computer analysis and expert clinical interpretation. MEDomics maintains close connections with clinicians and scientists in the mitochondrial disease community.”
For additional information, visit www.medomics.com
#####
Thursday, February 11, 2010
Algis (Al) Rajeckas, Ph.D. Joins MEDomics LLC
Steve Sommer, M.D., Ph.D., founder and president of MEDomics LLC is pleased to announce that Algis (Al) Rajeckas has joined MEDomics as West Coast Director of Mrketing. Dr. Rajeckas brings over 25 years experience with clinical diagnostics, biotech and life sciences companies.
Prior to joining MEDomics, Dr. Rajeckas has been a marketing consultant for clinical diagnostics and life sciences companies and has served as Vice President of the Life Sciences and BioPharma Division at DevicePharm. He also successfully introduced new esoteric clinical diagnostics tests in the hospital market while at Quest Diagnostics, the largest commercial reference laboratory.
Other experience includes product marketing at Celera Genomics, ICN Biomedicals and DuPont Biotechnology Systems (NEN). Dr. Rajeckas earned a Ph.D. in synthetic organic chemistry at the Massachusetts Institute of Technology and a B.S. in Chemistry from Trinity College, Hartford.
*****
Prior to joining MEDomics, Dr. Rajeckas has been a marketing consultant for clinical diagnostics and life sciences companies and has served as Vice President of the Life Sciences and BioPharma Division at DevicePharm. He also successfully introduced new esoteric clinical diagnostics tests in the hospital market while at Quest Diagnostics, the largest commercial reference laboratory.
Other experience includes product marketing at Celera Genomics, ICN Biomedicals and DuPont Biotechnology Systems (NEN). Dr. Rajeckas earned a Ph.D. in synthetic organic chemistry at the Massachusetts Institute of Technology and a B.S. in Chemistry from Trinity College, Hartford.
*****
Thursday, January 21, 2010
MitoDx
Reported January 18, 2010 AZUSA, Calif. (Ivanhoe Newswire) -- Gwynnie Andrews looks like a healthy 3-year-old. But her body was sending off distress signals from day one.
A droopy eye, fatigue, vomiting and flu-like symptoms were misdiagnosed for nearly two years. Gwynnie's mom had to rush her to the ER several times. "She was in severe metabolic decompensation and possibly several hours away from organ failure and/or sudden death," Gwynnie's mother, Beth Andrews, told Ivanhoe.
Dr. Richard Boles at the University of Southern California diagnosed mitochondrial disease -- genetic defects in the part of the cell that produces energy. The disease can affect multiple organs and produce a variety of symptoms, making it tough to diagnose.
Now a new test is creating a clearer picture of the disease. The test uses saliva or blood samples to look for mutations in any of the 37 mitochondrial genes that are vital for producing energy. Experts say it's 3,000 percent more sensitive than traditional screening methods.
"MitoDX looks at every single base in that mitochondrial genome, and we don't just look at it once -- We look at it thousands of times," Steve Sommer, M.D., Ph.D., founder and president of MEDomics in Azusa, Calif., told Ivanhoe. While there's no cure, early diagnosis can save lives … like Gwynnie's.
"Some children can die as a result of complications," Dr. Sommer said. "After diagnosis and treatment, [Gwynnie] is doing much better. "
Gwynnie gets her blood sugar levels checked daily, snacks frequently and takes supplements that have kept her out of the hospital since her diagnosis. A family who finally has an answer and can now tackle the problem together.
About one in 4,000 children in the U.S. will develop mitochondrial disease by age 10. Dr. Sommer says the turnaround time for the mitochondrial test is six to eight weeks.
*****
A droopy eye, fatigue, vomiting and flu-like symptoms were misdiagnosed for nearly two years. Gwynnie's mom had to rush her to the ER several times. "She was in severe metabolic decompensation and possibly several hours away from organ failure and/or sudden death," Gwynnie's mother, Beth Andrews, told Ivanhoe.
Dr. Richard Boles at the University of Southern California diagnosed mitochondrial disease -- genetic defects in the part of the cell that produces energy. The disease can affect multiple organs and produce a variety of symptoms, making it tough to diagnose.
Now a new test is creating a clearer picture of the disease. The test uses saliva or blood samples to look for mutations in any of the 37 mitochondrial genes that are vital for producing energy. Experts say it's 3,000 percent more sensitive than traditional screening methods.
"MitoDX looks at every single base in that mitochondrial genome, and we don't just look at it once -- We look at it thousands of times," Steve Sommer, M.D., Ph.D., founder and president of MEDomics in Azusa, Calif., told Ivanhoe. While there's no cure, early diagnosis can save lives … like Gwynnie's.
"Some children can die as a result of complications," Dr. Sommer said. "After diagnosis and treatment, [Gwynnie] is doing much better. "
Gwynnie gets her blood sugar levels checked daily, snacks frequently and takes supplements that have kept her out of the hospital since her diagnosis. A family who finally has an answer and can now tackle the problem together.
About one in 4,000 children in the U.S. will develop mitochondrial disease by age 10. Dr. Sommer says the turnaround time for the mitochondrial test is six to eight weeks.
*****
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.
###
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.
###
Thursday, January 14, 2010
New MitoDx test for mitochondrial diseases
MitoDx uses NextGen Sequencing Technology
Highly Sensitive Genetic Test Provides Early Diagnosis of Mitochondrial Diseases
MEDomics, LLC (www.medomics.com) announces an innovative test for early diagnosis of mitochondrial diseases, a group of disorders that can result in neurological dysfunction, muscle weakness, gastrointestinal symptoms, migraine headaches, blindness, deafness, and diabetes. The MEDomics mitochondrial genome test, MitoDx(TM), uses the revolutionary NextGen sequencing technology to detect all mutations in any of the 37 mitochondrial DNA genes. 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.
Disease from mutations in mitochondrial DNA is now thought to be common in both adults and children. In childhood, mitochondrial disease is more common than muscular dystrophy or cancer. Most mitochondrial disease may go undiagnosed because a primary care physician does not suspect the disease or because the causative mutation is missed by current methods.
"To my knowledge, MEDomics is the first laboratory to offer a whole genome clinical diagnostic test utilizing the powerful NextGen sequencing technique," says Steve S Sommer, MD, PhD, Founder and President of MEDomics.
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. Since cells contain hundreds of mitochondrial DNA molecules, any particular tissue may contain mitochondrial DNA molecules that are all identical, or there may be a fraction that differs. When both normal and mutant molecules exist, the mitochondria are said to be "heteroplasmic." The heteroplasmic fraction of mutations can differ substantially among tissues.
It is critical to detect heteroplasmy sensitively, since even low levels in blood, which is routinely tested, may reveal disease affecting other organs. Such low levels of heteroplasmy in blood are generally not detected by standard methods, but are detected by the MEDomics test utilizing NextGen sequencing technology. The error rate determines how small a mutant fraction is reliably detected. MEDomics uses the Applied Biosystems SOLiD(TM) 3 NextGen sequencing platform which has an exceptionally low error rate, allowing detection of heteroplasmy down to about 1%.
The MEDomics NextGen mitochondrial genome test can help diagnose mitochondrial disease, enabling life-saving therapy decisions and allowing for accurate family risk counseling.
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 analysis of the patient's genome ("omics"). The mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician.
Dr. Sommer is a Founding Fellow of the American College of Medical Genetics with 25 years experience in Clinical Molecular Diagnosis and over 300 scientific publications and patents.
Richard Boles, MD, Director of the Mitochondrial and Metabolic Disorders Clinic at Childrens Hospital, Los Angeles, is the distinguished clinical consultant for MEDomics in mitochondrial diseases.
Media Contacts:
Gary Grasso
doctorspr@msn.com
MEDomics, LLC
426 N. San Gabriel Ave.
Azusa, CA 91702
626-804-3645
info@medomics.com
www.medomics.com
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