Press Releases

Rady Children’s Institute for Genomic Medicine and Alexion Pharmaceuticals Partner to Speed Diagnosis of Rare Genetic Disorders in Newborns

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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.

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.

References:
1. Couce ML, Bana A, Boveda MD, Perez-Munuzuri A, Fernandez-Lorenzo JR, Fraga JM. Inborn errors of metabolism in a neonatology unit: impact and long-term results. Pediatrics international : official journal of the Japan Pediatric Society 2011;53:13-7.
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.)

Media Contacts:
Grace Sevilla, Marketing Manager
858-966-1710 (o); 619-855-5135 cell (c)
gsevilla@rchsd.org

Alexion Kim Diamond
Executive Director, Corporate Communications
475-230-3775
Kim.Diamond@Alexion.com

Pediatric Neurogeneticist Wins National Award for Contributions to Neuroscience

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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.

Noted Sanford Burnham Prebys Scientist Joins Forces with Rady Children’s Institute for Genomic Medicine to Help Fight Childhood Brain Cancer

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Robert Wechsler-Reya, PhD, named program director for Neuro-Oncology

San Diego – March 20, 2017 – Rady Children’s Institute for Genomic Medicine (RCIGM) announced that Robert Wechsler-Reya, PhD, has been named program director for the Joseph Clayes III Research Center for Neuro-Oncology and Genomics at RCIGM. Wechsler-Reya, a professor at Sanford Burnham Prebys Medical Discovery Institute (SBP), will retain his position as director of the Tumor Initiation and Maintenance Program at SBP’s NCI-designated Cancer Center and will hold a joint appointment at RCIGM.

Wechsler-Reya is an authority on the molecular mechanisms that regulate cell growth and tumorigenesis in the nervous system, with particular emphasis on the genes and signaling pathways that contribute to medulloblastoma. Medulloblastoma is the most common malignant brain tumor in children. Its rapid growth and tendency to spread through the nervous system make it difficult to treat, and many of the children who develop the disease die from it. Moreover, those who survive treatment often suffer life-long cognitive deficits, and develop other cancers later in life.

“We are thrilled to have Rob join our team,” said Dr. Stephen Kingsmore, president and CEO of RCIGM, “Given our plans to rapidly deploy our sequencing process to all critically ill children at Rady Children’s Hospital, Rob’s subject matter expertise and ties to the research community provide just the right combination to attack the devastating diagnosis of childhood brain cancer.”

The Joseph Clayes III Research Center for Neuro-Oncology and Genomics is applying state-of-the-art sequencing and analysis technologies to each patient’s tumor to establish a profile—a fingerprint—that is used to tailor therapy. This includes rapid whole genome sequencing, RNA sequencing, and epigenetic analysis on every child’s tumor. This information is evaluated by a team of experts—including physicians, biomedical scientists and computational biologists – to classify tumors and to identify optimal therapeutic strategies for each patient.

“Improved treatment of medulloblastoma, as well as other pediatric brain tumors, will likely come from a deeper understanding of the genes and signals that control normal brain development, and how these go awry in tumor development,” says Wechsler-Reya.

Historically there has been a gap between what is learned in the research lab and what is done in the clinic. The Joseph Clayes III Research Center will bridge this gap by using expertise in tumor biology to identify key mutations and signaling pathways in each patient’s cancer, and then using them to design appropriate therapies.

This holistic approach will also be used to design clinical trials for patients whose tumors share certain molecular profiles. This strategy brings patients with similar tumor features under the same umbrella and maximizes their potential to respond to new drugs.

“This is a great opportunity for Rob—and SBP—to connect our biomedical research and drug discovery capabilities with the clinical teams at RCIGM to improve outcomes for children with brain cancer,” said Perry Nisen, MD, PhD, CEO of SBP. “On behalf of the faculty and staff at SBP, we extend our congratulations to Rob on his new position with RCIGM.”

Future plans include leveraging the drug screening capabilities at SBP’s Conrad Prebys Center for Chemical Genomics to help Rady Children’s Hospital clinicians get the right drugs for each patient on the first try. “By increasing the amount of information we have about a child’s brain tumor up front, we hope to avoid therapies that won’t work and go straight to treatments that we believe—based on molecular evidence—will target the tumor,” says Wechsler-Reya.

The Joseph Clayes III Research Center for Neuro-Oncology and Genomics was made possible by a $10 million gift from the Joseph Clayes III Charitable Trust and brings together childhood brain cancer researchers to accelerate translation of new findings and knowledge into prevention, diagnosis, treatment and cures. “My Uncle Joe would be so proud to know he’s helping these vulnerable children—and so proud of the efforts within the Center to stop this terrible disease for future generations.” said Trulette Clayes, Joseph Clayes’ niece, and co-trustee with Brendan Holmes, of the Clayes Charitable Trust.

Click here to view and download a video interview with Dr. Robert Wechsler-Reya.

Media Contact:
Ben Metcalf
(858) 966-8579 . bmetcalf@rchsd.org

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About Rady Children’s Institute for Genomic Medicine:

Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital–San Diego to bring together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, early diagnosis, precise treatments and cures for childhood diseases at Rady Children’s Hospital. This integrated approach to precision medicine includes genomics, epigenomics, metabolomics, proteomics and informatics. This research provides a comprehensive view of a child’s health status and risk factors for disease. 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 Sanford Burnham Prebys Medical Discovery Institute:

Sanford Burnham Prebys Medical Discovery Institute (SBP) is an independent nonprofit research organization that blends cutting-edge fundamental research with robust drug discovery to address unmet clinical needs in the areas of cancer, neuroscience, immunity, and metabolic disorders. The Institute invests in talent, technology, and partnerships to accelerate the translation of laboratory discoveries that will have the greatest impact on patients. Recognized for its world-class NCI-designated Cancer Center and the Conrad Prebys Center for Chemical Genomics, SBP employs more than 1,000 scientists and staff in San Diego (La Jolla), Calif., and Orlando (Lake Nona), Fla. For more information, visit us at SBPdiscovery.org. The Institute can also be found on Facebook at facebook.com/SBPdiscovery and on Twitter @SBPdiscovery.

Genomic Sequencing Identifies Gene Variant for Kawasaki Disease Susceptibility

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Rady Children’s, UC San Diego Researchers Use Novel Whole Genome Sequencing

Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysms—balloon-like bulges of heart vessels – that may ultimately result in heart attacks, congestive heart failure or sudden death.

The causative agent for KD remains unknown—a windborne pathogen is suspected—but equally mysterious is why and how some children are more susceptible. Researchers at University of California San Diego School of Medicine, with colleagues at Rady Children’s Institute for Genomic Medicine and in London and Singapore, have conducted novel whole genome sequencing of a family in which two of four children were affected by KD. They have identified plausible gene variants that predispose some children to developing the disease.

The findings were recently published in the scientific journal PLOS ONE.

“This is the first successful analysis of whole genome sequence from a family that revealed a new gene implicated in KD susceptibility,” said senior author Jane C. Burns, MD, professor and director of the Kawasaki Disease Research Center at UC San Diego School of Medicine and Rady Children’s Hospital-San Diego. “The finding is intriguing because this gene, a member of the Toll-like receptor family, encodes for a protein that is expressed on the cell surface and uniquely binds to proteins outside the cell that come from fungi. This may be a clue that fungal antigens could be one environmental trigger for the disease.”

Prevalence rates of KD are increasing among children in Asia, the United States and Western Europe. In Japan, the country with the highest incidence: 306 out of every 100,000 children under the age of five, with more than 14,000 new cases annually. One in every 60 boys and one in every 75 girls in Japan will develop KD during childhood.

Incidence rates in the United States are lower—9 to 19 per 100,000 children under age 5—but rising, at least in San Diego County. Predictive models estimate that by 2030, 1 in every 1,600 American adults will have been affected by the disease.

KD has a clear genetic link. It is most common in the U.S. among persons of Asian or African descent, but its genetics is complex and researchers have struggled to identify which gene variants and combinations cause some children to develop the disease. As reported in PLOS ONE, Burns and colleagues employed analysis of whole genome sequence for the first time to examine a six-member African-American family in which two children had KD, but the parents and other siblings did not.

“Despite their apparent increased susceptibility, children of African-American descent have been excluded from previous KD genetic analysis,” the authors wrote.

Key among the tools used was whole genome sequencing, a process in which the complete DNA sequence of a person’s genome is determined at a single time. The researchers also looked at genome-wide association studies, which search for genetic variation in large populations. The goal was to find, if possible, distinct gene variants that, in combination, might indicate predisposition to and higher likelihood of developing KD.

The researchers identified a variation of the toll-like receptor 6 gene, which plays a fundamental role in the immune system, that may be linked to the pro-inflammatory state during the acute stage of KD. Previous research had not identified this gene as influencing susceptibility to KD.

In addition, another variant in a gene called tumor-associated calcium signal transducer 2, which is involved in cellular calcium signaling, was highlighted. The authors said further investigation of TACSTD2 is needed.

Burns said the study, with its analytic approach and use of whole genome sequencing, represents a new method for uncovering relevant gene variants in families affected by not just KD, but many other complex genetic diseases.

“The analysis of whole genome sequence to understand disease genetics is only recently becoming a tool that is affordable and manageable due to new developments in computer science. We are excited to be learning how to harness the power of this analysis to study our children,” Burns said.

“Our next approach will be to compare the whole genome sequence from KD patients with severe heart damage to those with no damage despite no or delayed treatment. We hope this will lead us to the genetic pathways that result in damage to the coronary arteries, which in turn will suggest new therapies to target those pathways.”

Co-authors include Jihoon Kim, Chisato Shimizu, Eric Levy, Andre M. Ribeiro do Santos, Hai Yang, Olivier Harismendy and Lucila Ohno-Machado, UC San Diego; Stephen F. Kingsmore and Narayanan Veeraraghavan, Rady Children’s Institute for Genomic Medicine; Jay Flatley, Illumina; Long Truong Hoang, Genome Institute of Singapore; Martin L. Hibberd, London School of Hygiene and Tropical Medicine; Adriana H. Tremoulet, UC San Diego and Rady Children’s Hospital-San Diego.

Funding for this research came, in part, from the National Institutes of Health (grant U54HL108460) and the Gordon and Marilyn Macklin Foundation.

Full study: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170977

Media contact: Scott LaFee, 858-249-0456, slafee@ucsd.edu

Rady Children’s One of Six Children’s Hospitals Uniting to Improve Pediatric Health

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Sanford Children’s Genomic Medicine Consortium integrates genomic care, advances research, educational efforts

San Diego – Sept. 14, 2016 – Rady Children’s Hospital-San Diego is one of six founding children’s hospitals that has signed an agreement to form the Sanford Children’s Genomic Medicine Consortium, a cutting-edge collaboration of children’s hospitals inspired by the vision of philanthropist Denny Sanford.

Founding members include Sanford Children’s, Rady Children’s, Children’s Hospital Los Angeles, Children’s Hospital Colorado, Children’s Hospitals and Clinics of Minnesota and Banner Children’s at Diamond Children’s Medical Center, Tucson, Arizona.

“Bringing all of these great facilities and brilliant minds together is a major step in improving treatments and finding cures for what ails kids,” said Sanford. “There is clear value in bringing these teams together with unified goals and my hope is that it will speed up necessary advancements so children won’t have to suffer.”

The consortium is committed to the betterment of the health of all children through the integration of genomic medicine into pediatric care. Genomic medicine focuses on the use of genetic and genomic information to personalize care for each child, allowing for improved treatment outcomes in a host of common and rare childhood diseases.

“This groundbreaking collaboration among premier children’s hospitals and leaders in genomic and pediatric care will help set the standard for sharing resources and collaborating in research and education in personalized medicine for children,” said Gene Hoyme, M.D., chief of genetics and genomic medicine at Sanford Health and medical director for the Sanford Children’s Genomic Medicine Consortium. “As a pediatric clinical geneticist, I’m excited about the improved clinical outcomes that the consortium’s cutting-edge genomic medical innovations will bring to the millions of young patients served by our members.”

In addition to setting a new standard for the clinical practice of personalized medicine in children, the consortium will also improve pediatric care through innovative joint research programs and genomic health care workforce development. The combined research capabilities of the member hospitals will expedite genetic and genomic discovery through economies of scale and access to a large and racially and ethnically diverse population. The consortium serves as a focal point for developing relationships with industry and governmental entities and provides for shared training opportunities for physicians, genetic counselors, nurses and other health professionals.

“By harnessing the talents and resources of some of the top minds in the field of pediatric genomics at leading children’s hospitals across the country, we now have the opportunity to accelerate discoveries in pediatric genomics – to be at the forefront of a new era of children’s medicine,” said Stephen Kingsmore, M.D., President and CEO of Rady Children’s Institute for Genomic Medicine. “The Sanford Children’s Genomic Medicine Consortium represents a major step forward in supporting our collective goal of improved outcomes for children.”

The consortium has also established an external scientific advisory board with representation from industry leaders such as the American Academy of Pediatrics, the American College of Medical Genetics and Genomics and the National Human Genome Research Institute to provide guidance on the scientific direction of the group’s efforts. Sanford Health is providing administrative staffing for the consortium.

Media Contact:
Ben Metcalf
bmetcalf@rchsd.org
(858) 966-8579

About Sanford Health:
Sanford Health is an integrated health system headquartered in the Dakotas. It is one of the largest health systems in the nation with 43 hospitals and nearly 250 clinics in nine states and four countries. Sanford Health’s 27,000 employees, including 1,400 physicians, make it the largest employer in the Dakotas. Nearly $1 billion in gifts from philanthropist Denny Sanford have allowed for several initiatives, including global children’s clinics, genomic medicine and specialized centers researching cures for type 1 diabetes, breast cancer and other diseases. For more information, visit sanfordhealth.org.

About Rady Children’s Institute for Genomic Medicine:
Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital–San Diego to bring together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, early diagnosis, precise treatments and cures for childhood diseases at Rady Children’s Hospital. This integrated approach to precision medicine includes genomics, epigenomics, metabolomics, proteomics and informatics. This research provides a comprehensive view of a child’s health status and risk factors for disease. www.rchsd.org/research/genomics-institute/

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.

Distinguished Leaders in Life Sciences and Genomics Join Rady Children’s Institute for Genomic Medicine

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Todd Laird Assumes Role of Chief Operating Officer and David Dimmock, MD as Medical Director

San Diego –July 5, 2016 – Rady Children’s Hospital-San Diego continues to build its Institute for Genomic Medicine by recruiting Todd Laird as the Chief Operating Officer and Dr. David Dimmock as the Medical Director.

“Todd Laird has over 30 years of leadership experience in the life sciences industry working with startups and Fortune 100 companies and Dr. David Dimmock is a nationally- renowned pediatric geneticist who has been on the forefront of clinical application of genome sequencing,” said David F. Hale, Board Chair, Rady Children’s Institute for Genomic Medicine. “We are excited to welcome them both.”

Mr. Laird has held a variety of global operations and commercial roles with companies including American Hospital Supply, Baxter International, GE Healthcare and Life Technologies. During his career he has built and managed global brands, guided new product and applications development, led commercialization of innovative technologies, and driven operations and facility growth strategy.

In the decade leading up to an acquisition by Thermo Fisher Scientific, Mr. Laird was General Manager at Life Technologies where he led several industry-leading businesses including GIBCO research cell culture, Biosource cellular assays, Applied Biosystems Sanger sequencing, and Transplant Diagnostics. Most recently Mr. Laird has been an active investor and advisor to a portfolio of early-stage life science companies.

Dr. David Dimmock is a nationally-renowned expert on the clinical application of whole genome sequencing and spearheaded the first end-to-end solution (from patient care to clinical laboratory, data analysis, data return and ethical consideration) that was deployed in 2010.

He was the clinician primarily responsible for the first use of exome sequencing to change the medical management of a child. Dr. Dimmock was the geneticist involved in the case which was the subject of Pulitzer Prize winning articles and the book, One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine.

Before joining Rady Children’s, Dr. Dimmock’s clinical practice focused on the diagnosis of heritable disorders in children and adults and the long term care of patients with mitochondrial and metabolic disorders. He has been the principal investigator for multiple industry sponsored studies evaluating novel therapeutics for these disorders and is a sought after speaker at national conferences.

“We are fortunate to have such an experienced innovator as Todd Laird helping build the infrastructure and guide the operations of our organization,” said Stephen Kingsmore, MD D.Sc., President and CEO of the Institute. “And with Dr. David Dimmock’s shared passion for clinical application of genome sequencing and study of its application for newborn screening, we are uniquely poised to integrate genomic medicine into clinical practice at Rady Children’s.”

Media Contact:
Ben Metcalf
(858) 966-8579 | bmetcalf@rchsd.org

About Rady Children’s Institute for Genomic Medicine:

Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital – San Diego to bring together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, early diagnosis, precise treatments and cures for childhood diseases at Rady Children’s Hospital. This integrated approach to precision medicine includes genomics, epigenomics, metabolomics, proteomics and informatics. This research provides a comprehensive view of a child’s health status and risk factors for disease. www.rchsd.org/research/genomics-institute/

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.

Rady Children’s Institute for Genomic Medicine to Host Leading Researchers Studying Genome Sequencing for Newborns

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San Diego – May 25, 2016 – Rady Children’s Institute for Genomic Medicine is hosting genomics researchers from across the nation to confer on their progress in determining whether sequencing of newborns’ genomes can provide useful medical information beyond what current newborn screening already provides.

The Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) program addresses how genomic sequencing can replicate or augment known screening results for newborn disorders, what knowledge sequencing can provide for conditions not currently screened, and what additional clinical information could be learned from sequencing relevant to the clinical care of newborns.

The NSIGHT program is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), components of the National Institutes of Health.

In fiscal year 2013, initial funding of $5 million was given to four grantees under the Genomic Sequencing and Newborn Screening Disorders research program. The program, currently in its third year, is set to provide funding of $25 million over five years.

The participating grantees in the NSIGHT program include:

• Rady Children’s Institute for Genomic Medicine, Rady Children’s Hospital – San Diego and Children’s Mercy – Kansas City • Boston Children’s Hospital, Brigham and Women’s Hospital & Baylor College of Medicine • The University of California, San Francisco and the California Department of Public Health • The University of North Carolina at Chapel Hill

In addition to NSIGHT program participants, speakers will include scientific leaders from Inova Translational Medicine Institute, Pacific Biosciences, 10X Genomics, Parabase Genomics and DNAnexus.

The conference is May 25, from 8am – 4pm and May 26, from 8am-noon at the Estancia La Jolla Hotel & Spa. Members of the media are welcome and should contact Ben Metcalf to arrange attendance.

Media Contact:
Ben Metcalf
(858) 966-8579(o) (619) 822-8593 (c)
bmetcalf@rchsd.org

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About Rady Children’s Institute for Genomic Medicine:

Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital – San Diego to bring together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, early diagnosis, precise treatments and cures for childhood diseases at Rady Children’s Hospital. This integrated approach to precision medicine includes genomics, epigenomics, metabolomics, proteomics and informatics. This research provides a comprehensive view of a child’s health status and risk factors for disease. www.rchsd.org/research/genomics-institute/

Dr. Stephen Kingsmore Sets Guinness World Records Title for Fastest Genetic Diagnosis

Celebration Held on National DNA Day in San Diego, the “Genomics Capital of the World”

SKingsmore_FINALAN DIEGO, April 25, 2016 — Stephen Kingsmore, M.D., D.Sc., president and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital-San Diego, is the official title holder of the Guinness World Records® designation for fastest genetic diagnosis, which he accomplished by successfully diagnosing critically ill newborns in just 26 hours, as published in the journal Genome Medicine.

The feat was made possible by several time-shrinking technologies, including Edico Genome’s genomic data-crunching computer chip, DRAGEN, and one of Illumina’s high-throughput sequencing instruments. In addition, other parameters of the sequencing process were optimized.

Dr. Kingsmore achieved this Guinness World Records title while serving as executive director of Medical Panomics at Children’s Mercy Kansas City; he will implement the enabling technologies at the new Rady Children’s Institute for Genomic Medicine. Today’s celebration in San Diego, often called “the genomics capital of the world,” is being held on National DNA Day, which commemorates the completion of the Human Genome Project and the discovery of DNA’s double helix.

“Diagnosing acutely ill babies is a race against the clock, which is why it’s so essential for physicians to have access to technology that will provide answers faster and help set the course of treatment,” Dr. Kingsmore said. “My work at Children’s Mercy Kansas City that led to this recognition would not have been possible without our key technology partners Edico Genome and Illumina, who share a vision for unraveling mysteries of disease and giving hope to families with ill newborns. I look forward to collaborating with both parties to implement this approach at Rady Children’s Institute for Genomic Medicine and ultimately neonatal and pediatric intensive care units across the country.”

Up to one-third of babies admitted to a neonatal intensive care unit in the United States have a genetic disease, and more than 20 percent of infant deaths are caused by genetic illnesses. Treatments are currently available for more than 500 genetic diseases; for about 70 of these, initiation of therapy in newborns can help prevent disabilities and life-threatening illnesses. The cost of whole-genome sequencing has fallen to the point of feasibility for clinical testing of these and other conditions, and a new bioinformatics chip for genomic data is reducing time needed for analysis, facilitating the use of genomic medicine in acute medical care.

“San Diego is home to world’s brightest minds that are leading the world in creating innovative technologies and generating life-saving research,” said Mayor Kevin L. Faulconer. “Dr. Kingsmore’s work in genomics represents some of the best of what San Diego has to offer. On behalf of the City of San Diego, congratulations to Dr. Kingsmore, Rady Children’s Hospital and all of those involved for accomplishing something that has never been done before. This work reaffirms San Diego’s position as the Genomics Capital of the World.”

“Illumina has achieved many firsts in its history as the global leader of DNA sequencing technology, but this historic initiative is one we’re particularly honored to be part of,” said Kevin Hall, D. Phil, senior director of sequencing systems for Illumina. “We congratulate Dr. Kingsmore, the team at Edico Genome and others who are working to advance the practice of medicine.”

“A growing hurdle for genomic medicine is the time required to analyze big data generated by sequencing instruments, a need that is clearly illustrated by the plight of critically ill newborns,” said Pieter van Rooyen, Ph.D., chief executive officer of Edico Genome. “We applaud Dr. Kingsmore’s tireless work to find rapid answers for newborns and families desperately searching for diagnoses. We are proud that our DRAGEN bio-IT processor could play a role in this milestone for genomic medicine.”

“As we celebrate this achievement we look forward to a future filled with dramatic advances in the field of genomics,” said David F. Hale, chairman, Rady Children’s Institute for Genomic Medicine. “San Diego’s vibrant biotech, research and life sciences communities provide the perfect environment for these innovations to happen.”

About Rady Children’s Institute for Genomic Medicine

Rady Children’s Institute for Genomic Medicine was founded by Rady Children’s Hospital – San Diego to bring together world-class scientists and clinicians into shared research infrastructure for accelerated translation of research discoveries into prevention, diagnosis, treatment and ultimately cures for childhood diseases. This integrated approach to precision medicine includes epigenomics, metabolomics and proteomics. This research provides a comprehensive view of a child’s health status and risk factors for disease.

About Rady Children’s Hospital-San Diego

Rady Children’s Hospital-San Diego is a 520-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 2015, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in all ten pediatric specialties the magazine surveyed. 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 Edico Genome

Edico Genome has created the world’s first bioinformatics processor designed to analyze next-generation sequencing data, DRAGEN™. The use of next-generation sequencing is growing at an unprecedented pace, creating a need for a technology that can process this big data rapidly and accurately. Edico Genome’s computing platform has been shown to speed whole genome data analysis from hours to minutes, while maintaining high accuracy and reducing costs, enabling clinicians and researchers to reveal answers more quickly. For more information, visit www.EdicoGenome.com or follow @EdicoGenome.

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. ** About Children’s Mercy Kansas City**

Children’s Mercy, located in Kansas City, Mo., is one of the nation’s top pediatric medical centers. The 354-bed, not-for-profit hospital provides care for children from birth through the age of 21, and is ranked by U.S. News & World Report as one of “America’s Best Children’s Hospitals.” For the third time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. For more than a century, Children’s Mercy has provided the highest level of medical care to every child who passes through its doors, made possible through generous community support.

Media Contacts:

Ben Metcalf
Rady Children’s Hospital-San Diego
(858) 966-8579
bmetcalf@rchsd.org
www.rchsd.org

Pam Lord for Edico Genome
Canale Communications
(619) 849-6003
pam@canalecomm.com
www.edicogenome.com

Jennifer Temple
Illumina
(858) 882-6822
pr@illumina.com
www.illumina.com

Jake Jacobson
Children’s Mercy Kansas City
(816) 701-4097
jajacobson@cmh.edu
www.childrensmercy.org

$10 Million Gift will Fund Research Center Focused on Finding the Genetic Causes of Childhood Brain Cancer

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Center Created within Rady Children’s Institute for Genomic Medicine

San Diego – March 28, 2016 – Rady Children’s Hospital-San Diego announced today the establishment of the Joseph Clayes III Research Center for Neuro-Oncology and Genomics within the Rady Children’s Institute for Genomic Medicine. Made possible by a $10 million endowment, the Center aims to accelerate the translation of leading-edge genomic research into prevention, diagnosis, treatment and cures.

The Center adds an important research component to Rady Children’s full range of advanced treatment options for childhood brain cancer, chief among them proton therapy, provided at Rady Children’s Hospital at Scripps Proton Therapy Center. Proton therapy is the preferred form of radiation therapy for many childhood cancers, especially brain and spinal tumors, because it spares healthy tissue from potentially damaging radiation.

“The first instinct of parents who have a child diagnosed with cancer is to seek out the best treatments available,” said Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine. “That’s exactly what our team of scientists, researchers and physicians intends to provide. By sequencing the tumor, we can discover the genomic foundation of the cancer, and develop individualized approaches to treatment.”

The $10 million endowment will be divided into three specific programs:

  • The Joseph Clayes III Neuro-Oncology Research Fund that will accelerate research into the understanding of the genomic foundation of childhood brain cancers and help scientists to develop individualized approaches to treatment.
  • The Joseph Clayes III Endowed Chair in Neuro-Oncology Research, allowing Rady Children’s to invest in top leadership talent with the knowledge and skill to lead advanced genomics research.
  • The Joseph Clayes III Neuro-Oncology Research Fellowship and Education Fund, allowing the most promising young scientists to learn the best approaches in pioneering cancer research, and preparing them to be future leaders in genomic medicine.

“The establishment of the Joseph Clayes III Research Center for Neuro-Oncology and Genomics is the latest step forward to fulfilling the dream that every child who comes to Rady Children’s for care will have the benefits of genomic sequencing,” said David Hale, Board Chair of Rady Children’s Institute for Genomic Medicine.

“By accelerating research, investing in top talent and training future leaders in genomic medicine, this generous gift has the very real potential to benefit generations of children,” said Donald Kearns, M.D., President and CEO of Rady Children’s. “We thank the Clayes Trust for this inspiring example of visionary giving.”

The namesake of the new Center, the late Joseph Clayes III, was a successful real-estate investor, avocado rancher and philanthropist who valued the importance of education, the arts and helping children. Brendan Holmes, a former business partner of Clayes, and Clayes’ niece Trulette Clayes, are co-trustees of the Joseph Clayes III Charitable Trust. They jointly made the decision to invest in the Center.

“My uncle Joe had a passion for causes that help children – specifically those who face physical or mental challenges in their lives,” said Trulette Clayes. “This endowment has the potential to change the course of how children with cancer receive treatment.”

“Making a positive and lasting impact on the lives of children with cancer perfectly illustrates the mission of the Trust that Joseph established,” said Brendan Holmes. “There’s no better investment than in the lives of children.”

The $10 Million endowment is the latest investment in the Rady Children’s Institute for Genomic Medicine, following Ernest and Evelyn Rady’s $120 million gift in August 2014 to establish the Institute, and a $2.5 million investment by Rady Children’s Hospital Auxiliary in May of 2015 to fund the first endowed chair of the Institute, Dr. Joseph Gleeson.

World-Renowned Genetics Researcher Named to Lead Rady Pediatric Genomics Institute

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San Diego – Sept. 21, 2015 – The Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s announced today it has named pediatric genomics researcher Stephen F. Kingsmore, MD, DSc, to lead the Institute as its President and CEO.

Among his pioneering achievements, Dr. Kingsmore developed the 50 hour genome, a process by which doctors are able to decode and interpret a newborn baby’s genome in just two days. The genetic test, named one of the top 10 medical breakthroughs of 2012 by Time Magazine, rapidly screens the DNA of babies for about 4,500 diseases known to be linked to single-gene mutations.

Dr. Kingsmore and his team also designed a software system for neonatologists to look for disease in specific regions of the genome based on the newborn’s symptoms and then guide doctors to where they should interpret results. These important advances toward rapid genetic sequencing for newborns promise to one day replace the traditional newborn screening blood test.

“Dr. Kingsmore’s impressive record of achievement and his stellar reputation as a world leader in pediatric genomics will serve him well as he endeavors to bring the Institute’s vision to life – to fundamentally change and improve healthcare for children in San Diego and around the world,” said David F. Hale, Board Chair of Rady Pediatric Genomics and Systems Medicine Institute.

Dr. Kingsmore comes to Rady Children’s from Children’s Mercy Kansas City, where he most recently served as Executive Director of Medical Panomics. He was the Founding Director of the Center for Pediatric Genomic Medicine at Children’s Mercy, during which time he and his team decoded the genome of more than 1,700 children and parents. To maintain the continuity of his important research, Dr. Kingsmore will continue to collaborate with Children’s Mercy during the transition.

“Recruiting this brilliant person is a home run for Rady Children’s and for San Diego,” said Donald Kearns, MD, President and CEO of Rady Children’s Hospital – San Diego. “We are building an outstanding team in pediatric genomics at the Institute. With Dr. Kingsmore joining the top experts we already have in place at the Rady Pediatric Genomics Institute, I have no doubt we are going to change the world for pediatric care.”

Dr. Kingsmore will begin his new position at the Rady Pediatric Genomics Institute on September 28, 2015.

About Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s

The Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s was launched in April 2014 with a $120 million gift from the Rady Family and a $40 million investment from Rady Children’s Hospital. The Institute brings together world-class scientists and clinicians into a shared research infrastructure, one that will enable them to accelerate the translation and implementation of research discoveries for prevention, diagnosis, treatment, and ultimately cures for childhood diseases. For more information visit www.rchsd.org/research/genomics-institute/.

About Rady Children’s Hospital-San Diego:

Rady Children’s Hospital-San Diego is a 520-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 2015, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in all ten pediatric specialties the magazine surveyed. 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.

Media Contact: Carlos Delgado
Office: 858-966-4901
cdelgado@rchsd.org