Rady Children’s Institute for Genomic Medicine & Alexion Pharmaceuticals Partner to Speed the Diagnosis of Rare Genetic Dis...
May 16 2017 - 6:30AM
Business Wire
The Rady Children’s Institute for Genomic Medicine (RCIGM) and
Alexion Pharmaceuticals, Inc. (NASDAQ:ALXN) today announced a
strategic partnership to accelerate the diagnosis of critically-ill
newborns with rare genetic disorders. The collaboration combines
the Institute’s genomic research expertise with Alexion data
science and bioinformatics capabilities to advance precision
medicine for infants in an intensive care setting.
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“Diagnosing acutely ill babies is a race against the clock, so
it’s essential for physicians to have access to solutions that will
provide answers faster and help set the course of treatment,” said
Stephen Kingsmore, MD, DSc, President and CEO of the Institute.
“Winning this race will require collaborative effort, which is why
we are delighted to work with the people at Alexion who share our
vision for unraveling the mysteries of genetic disease and giving
hope to families with critically sick newborns.”
There is great need for employing such technology in medicine.
As many as 15 percent of babies born in the United States are
admitted to neonatal or pediatric intensive care units (NICU/PICU).
Among these infants, up to one-third are likely to be affected by
genetic diseases or congenital anomalies which are also the leading
cause of death among babies in the NICU. 1-11
Rapid diagnosis through genome sequencing can provide definitive
answers, allowing physicians to provide timely, targeted treatment
that can help prevent a needless diagnostic odyssey and improve
medical outcomes. The rapidly falling cost of whole-genome
sequencing increases the feasibility for clinical testing for rare
genetic diseases. However, the amount and complexity of data
continues to grow.
“In rare diseases, rapid diagnosis is made all the more
challenging by the significant amount of genomic and phenotypic
data a clinician must sift through to reach a diagnosis,” said John
Reynders, PhD, Vice President of Data Sciences, Genomics, and
Bioinformatics at Alexion. “This collaboration will help accelerate
an accurate diagnosis for patients with genetic diseases, clarify
available paths of intervention and provide hope to families.”
Under the partnership, Alexion will share, research and further
refine the SmartPanel, a platform developed by Alexion that
personalizes and prioritizes suspected rare-disease genes from a
patient's next-generation sequenced genome and specific clinical
presentation. The Rady Children’s Institute for Genomic Medicine is
evaluating the SmartPanel in research to establish positive
predictive value, enable electronic medical record (EMR)
integration for rapid phenotypic extraction and assess overall
patient outcomes via earlier diagnosis. Both organizations will
collaborate on patient and disease characterization, algorithmic
modules and scalability with a shared goal of contributing core
capabilities to the open source community to accelerate research in
the challenging area of pediatric rare-disease diagnosis.
About Rady Children’s Institute for Genomic Medicine
The institute is leading the way in advancing precision
healthcare for infants and children through genomic and systems
medicine research. Discoveries at the Institute are enabling rapid
diagnosis and targeted treatment of critically ill newborns and
pediatric patients at Rady Children’s Hospital-San Diego. The
vision is to develop an integrated process that can be expanded to
deliver precision pediatric medicine at children’s hospitals in
California, the nation and the world. RCIGM is a division of Rady
Children’s Hospital-San Diego. Learn more at
www.RadyGenomics.org.
About Rady Children’s Hospital-San Diego
Rady Children’s Hospital-San Diego is a 551-bed pediatric
care facility providing the largest source of comprehensive
pediatric medical services in San Diego, Southern Riverside and
Imperial counties. Rady Children’s is the only hospital in the San
Diego area dedicated exclusively to pediatric healthcare and is the
region’s only designated pediatric trauma center. In June
2016, U.S. News & World Report ranked Rady Children’s
among the best children’s hospitals in the nation in nine pediatric
specialties. Rady Children’s is a nonprofit organization that
relies on donations to support its mission. For more information,
visit www.rchsd.org and find us
on Facebook, Twitter and Vimeo.
About Alexion
Alexion is a global biopharmaceutical company focused on
developing and delivering life-transforming therapies for patients
with devastating and rare disorders. Alexion is the global leader
in complement inhibition and has developed and commercializes the
first and only approved complement inhibitor to treat patients with
paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic
uremic syndrome (aHUS), two life-threatening ultra-rare disorders.
In addition, Alexion’s metabolic franchise includes two highly
innovative enzyme replacement therapies for patients with
life-threatening and ultra-rare disorders, hypophosphatasia (HPP)
and lysosomal acid lipase deficiency (LAL-D). Alexion is advancing
its rare disease pipeline with highly innovative product candidates
in multiple therapeutic areas. This press release and further
information about Alexion can be found at: www.alexion.com.
[ALXN-G]
References:
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Perez-Munuzuri A, Fernandez-Lorenzo JR, Fraga JM. Inborn errors of
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encountered at a high-care unit in a children's hospital. European
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- Hagen CM, Hansen TW. Deaths in a
neonatal intensive care unit: a 10-year perspective. Pediatric
critical care medicine : a journal of the Society of Critical Care
Medicine and the World Federation of Pediatric Intensive and
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- Berger TM, Hofer A. Causes and
circumstances of neonatal deaths in 108 consecutive cases over a
10-year period at the Children's Hospital of Lucerne, Switzerland.
Neonatology 2009;95:157-63.
- Pinar H. Postmortem findings in term
neonates. Seminars in neonatology : SN 2004;9:289-302.
- NICU Summary. March of Dimes. (Accessed
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https://www.marchofdimes.org/peristats/pdfdocs/nicu_summary_final.pdf.)
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Rady Children’s Hospital-San DiegoGrace Sevilla,
858-966-8579(o)Marketing
Manager619-822-8593(c)gsevilla@rchsd.orgorAlexionKim
Diamond, 475-230-3775Executive Director, Corporate
CommunicationsKim.Diamond@alexion.com
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