Study published in Annals of Neurology yields
clinical diagnoses for unresolved rare disease cases
Illumina, Inc. (NASDAQ: ILMN), Children’s National Health
System and The University of Queensland (UQ) announced today that a
study using whole exome sequencing (WES), a method to look at all
the genes in the genome at once, yielded clinical diagnoses for 42
percent of patients with white matter abnormalities that had been
unresolved an average of eight years.
White matter disorders are progressive and involve age-related
weakness in the part of the nerves that connect various parts of
the brain to each other and to the spinal cord. This group of
disorders are found in 1 per 7,000 children born each year. The
study brought together 28 named collaborators, led by Children’s
National and included researchers from Illumina and The University
of Queensland.
The results of the study, entitled “Whole exome sequencing in
patients with white matter abnormalities,” are available online in
the Annals of Neurology and the full article can be accessed
here. The paper will also be published in the June print edition
(Volume 79, Issue 6).
“The term ‘rare’ genetic disease is something of a misnomer,
since up to 350 million people across the world can be impacted by
these disorders,” said Adeline Vanderver, M.D., Director of the
Myelin Disorders Program at Children’s National and lead author on
the study. “Our study found that next generation sequencing could
shine a diagnostic light on an especially challenging group of
genetic disorders that impact the brain’s white matter.”
“We were delighted by the power of this approach,” adds
co-author Ryan J. Taft, Ph.D., Director of Scientific Research at
Illumina. “In this study, use of next-generation sequencing-based
WES dramatically increased the diagnostic yield and reduced the
time to diagnosis.”
“White matter disorders can have a devastating impact on
patients and their families,” said study co-author Cas Simons,
Ph.D., from the Institute for Molecular Bioscience Centre for Rare
Diseases Research at UQ. “Access to a timely and accurate diagnosis
is critical to inform many health care decisions and improve
quality of life for patients.”
More than 100 genetic disorders are linked to white matter
abnormalities in the central nervous system. At least 10 different
chemicals make up the myelin, a fatty insulation layer, and the
myelin sheath plays a critical role in smooth transmission of
electrical impulses along nerve cells. A cluster of rare genetic
disorders known as the leukodystrophies, which cause progressive
degeneration of the brain’s white matter, are tied to genetic flaws
in how myelin makes or uses its essential mix of chemicals.
Standard approaches to diagnose white matter disorders fail in
nearly 50 percent of these children, complicating their care and
exacting a substantial psychological toll on families, Dr. Taft
says. The human genome contains roughly 3 billion letters of DNA.
The exome, the protein-coding region of the genome, represents just
2 percent of this genetic code but contains most of the variants
known to be related to disease.
MRI (magnetic resonance imaging) has been tapped for the last 20
years to recognize telltale patterns of leukodystrophies, yet
nearly half of patients lack concrete diagnoses. Because WES
ferreted out diagnoses for other stubbornly unsolved genetic
disorders, the research team has proposed that the technique could
answer genetic cold cases thought to be leukodystrophies.
The research team identified 191 families with unresolved cases
of leukoencephalopathy thought to be genetic in nature. Of this
group, they diagnosed 101 families using MRI pattern recognition
followed by standard biochemical and genetic testing. For the 90
cases that remained undiagnosed, 71 family groups of at least three
people were included in the study and provided the high-quality
samples needed for WES analyses by the research team. While
patients ranged from 3 to 26 years old at the time of sequencing,
for some, symptoms began at birth. This research was performed
utilizing Illumina technology.
According to the study, adding WES to the diagnostic tools
already at clinicians’ disposal “may decrease the number of
patients with unsolved genetic white matter disorders from 50
percent to less than 30 percent. Taking into consideration the
clinical and psychosocial costs of prolonged diagnostic odysseys in
these families, this is substantial.” The diagnoses led to
additional precision in some patients’ clinical care, with families
with certain mutations being referred to specialized clinics to
undergo monitoring for cancer. Based on these results the team is
now investigating the use of whole genome sequencing, which could
further increase the diagnostic yield, in a multi-site prospective
study of children with neurodevelopment disorders.
About Children’s National Health System
Children’s National Health System, based in Washington, DC, has
been serving the nation’s children since 1870. Children’s National
is a Leapfrog Group Top Hospital, Magnet® designated, and was
ranked among the top 10 pediatric hospitals by U.S. News &
World Report 2015-16. Home to the Children’s Research Institute and
the Sheikh Zayed Institute for Pediatric Surgical Innovation,
Children’s National is one of the nation’s top NIH-funded pediatric
institutions. With a community-based pediatric network, seven
regional outpatient centers, an ambulatory surgery center, two
emergency rooms, an acute care hospital, and collaborations
throughout the region, Children’s National is recognized for its
expertise and innovation in pediatric care and as an advocate for
all children. For more information, visit ChildrensNational.org, or
follow us on Facebook and Twitter.
About Institute for Molecular Bioscience, The University of
Queensland (UQ)
The University of Queensland’s Institute for Molecular
Bioscience (IMB) is one of Asia-Pacific’s leading life sciences
research institutes. Established in 2000, IMB is committed to
improving quality of life through research. IMB researchers work in
partnership with academic, industry and clinical colleagues around
the world to advance knowledge in areas including rare diseases,
pain, inflammation and superbug infection. The institute has a
focus on translating its new knowledge into drugs, diagnostics and
technologies to more effectively prevent, detect and treat disease;
and pursue opportunities in a range of biotechnology applications
for health, industry and the environment.
About Illumina
Illumina is improving human health by unlocking the power of the
genome. Our focus on innovation has established us as the global
leader in DNA sequencing and array-based technologies, serving
customers in the research, clinical and applied markets. Our
products are used for applications in the life sciences, oncology,
reproductive health, agriculture and other emerging segments. To
learn more, visit www.illumina.com and follow
@illumina.
Forward-Looking Statements
This release may contain forward-looking statements that involve
risks and uncertainties. Important factors that could cause actual
results to differ materially from those in any forward-looking
statements are detailed in our filings with the Securities and
Exchange Commission, including our most recent filings on Forms
10-K and 10-Q, or in information disclosed in public conference
calls, the date and time of which are released beforehand. We do
not intend to update any forward-looking statements after the date
of this release.
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Children’s National Health SystemLauren Lytle,
202-476-4500llytle1@childrensnational.orgorThe University of
QueenslandBronwyn Adams,
+61-418-575-247communications@imb.uq.edu.auorIlluminaInvestors:Rebecca
Chambers, 858-255-5243ir@illumina.comorMedia:Tina Amirkiai,
858-882-6822pr@illumina.com
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