SAN DIEGO & NEW HAVEN, CONN – May 16, 2017—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.
“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, M.D., D.Sc., 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 Reportranked 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.
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.
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2. Weiner J, Sharma J, Lantos J, Kilbride H. How infants die in the neonatal intensive care unit: trends from 1999 through 2008. Archives of pediatrics & adolescent medicine 2011;165:630-4.
3. Wilkinson DJ, Fitzsimons JJ, Dargaville PA, et al. Death in the neonatal intensive care unit: changing patterns of end of life care over two decades. Archives of Disease in Childhood – Fetal and Neonatal Edition 2006;91:F268-F71.
4. Ray JG, Urquia ML, Berger H, Vermeulen MJ. Maternal and neonatal separation and mortality associated with concurrent admissions to intensive care units. CMAJ : Canadian Medical Association journal 2012;184:E956-62.
5. Yoon PW, Olney RS, Khoury MJ, Sappenfield WM, Chavez GF, Taylor D. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Archives of pediatrics & adolescent medicine 1997;151:1096-103.
6. O’Malley M, Hutcheon RG. Genetic disorders and congenital malformations in pediatric long-term care. Journal of the American Medical Directors Association 2007;8:332-4.
7. Soneda A, Teruya H, Furuya N, et al. Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children’s hospital. European journal of pediatrics 2012;171:301-5.
8. 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 Critical Care Societies 2004;5:463-8.
9. 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.
10. Pinar H. Postmortem findings in term neonates. Seminars in neonatology : SN 2004;9:289-302.
11. NICU Summary. March of Dimes. (Accessed July 20, 2016, at https://www.marchofdimes.org/peristats/pdfdocs/nicu_summary_final.pdf.)
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San Diego–May 08, 2017—The Director of Neurodevelopmental Genetics and endowed chair at Rady Children’s Institute for Genomic Medicine Joseph Gleeson, M.D., is the first recipient of the Constance Lieber Prize for Innovation in Developmental Neuroscience.
The award recognizes transformative contributions in developmental neuroscience leading to new treatments by an investigator under 55 years of age. It was established by the Lieber Institute for Brain Development (LIBD), an affiliate of Johns Hopkins University School of Medicine. The award includes a $100,000 cash prize and will be presented to Dr. Gleeson in June at the Johns Hopkins School of Medicine.
“Dr. Gleeson is a highly regarded and accomplished developmental neuroscientist,” said LIBD Director and CEO Daniel R. Weinberger, M.D. “His latest work to uncover the molecular origins of developmental behavior disorders made him a unanimous choice for the inaugural recipient of this prize.”
At the Rady Children’s Institute of Genomic Medicine, Dr. Gleeson is building a program in neurogenetics that seeks to understand the genetic basis of diseases such as epilepsy, autism and mental disability to develop new treatments. His pioneering work is supported by a $2.5 million endowment for neuroscience provided by Rady Children’s Hospital Auxiliary.
“I am absolutely thrilled and humbled to receive the Constance Lieber Prize for Innovation in Developmental Neuroscience,” said Dr. Joseph Gleeson. “My hope is that someday children and families with brain disorders can benefit from the work we’re doing in what I call ‘assembly neuroscience’, that is, how the human brain is assembled, and to which I feel honored to have contributed.”
In addition to his leadership role at Rady Children’s, Dr. Gleeson is also a professor of Neuroscience and Pediatrics at the UC San Diego School of Medicine; Adjunct Professor with The Rockefeller University and Investigator at the Howard Hughes Medical Institution.
The Lieber Institute for Brain Development established the new prize to honor Connie Lieber, one of the Institute’s founders, for her leadership in the area of mental health research and her prescient insights about the central role of brain development in psychiatric illness. More information about the prize can be found at clprize.libd.org.
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. 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 the Lieber Institute for Brain Development . The mission of the Lieber Institute for Brain Development and the Maltz Research Laboratories is to translate the understanding of basic genetic and molecular mechanisms of schizophrenia and related developmental brain disorders into clinical advances that change the lives of affected individuals. LIBD is an independent, not-for-profit 501(c)(3) organization and a Maryland tax-exempt medical research institute affiliated with the Johns Hopkins University School of Medicine. For more information, please visit www.libd.org.