Press Releases

RCIGM to Share in $34 Million NIH Clinical and Translational Science Award

Forms partnership with Rady Children’s Institute for Genomic Medicine

LA JOLLA, CA – April 30, 2018 – The Scripps Translational Science Institute (STSI) has received over $34 million in renewed funding from the National Institutes of Health’s National Center for Advancing Translational Science (NCATS) to advance medical research and clinical care through genomic and digital technologies. This is the third 5-year Clinical and Translational Science Award (CTSA) to be awarded to STSI, which is part of The Scripps Research Institute (TSRI).

“We are thrilled to have the NIH’s continued support for our efforts to advance individualized medicine, both in care of patients and in training of young physicians and scientists,” says Eric Topol, M.D., who is the principal investigator for the CTSA, director of STSI and an executive vice president at TSRI.

Supported in part by the CTSA since 2008, STSI has been leading the charge to advance health care through the use of genomics, digital medicine and bioinformatics. The CTSA Program supports a national network of academic medical research institutions—known as “hubs”—that work together to improve the translational research process of turning findings from basic science into effective interventions that improve human health.

The new round of funding will provide resources and infrastructure support for STSI to further its mission of applying genomic and digital technologies, coupled with bioinformatics tools to better understand each individual and ultimately render more effective care.

As part of the CTSA, STSI has formed a new partnership with Rady Children’s Institute for Genomic Medicine (RCIGM), a leader in ultra-rapid, whole-genome sequencing programs in acutely ill infants.

“Genomic medicine research programs at STSI and RCIGM synergize significantly, especially as related to the genetics of rare and infectious diseases,” says Stephen Kingsmore, M.D., D.Sc., president and CEO of RCIGM. “We are looking forward to working closely with Dr. Topol’s team to advance the implementation of genomic medicine in our region of southern California and through the national CTSA consortium.”

In addition, the CTSA renewal features a drug discovery collaboration between STSI and another of TSRI’s affiliated institutes, the California Institute for Biomedical Research (Calibr), which focuses on the translation of basic research to new medicines that address unmet medical needs.

“We are thrilled to enable the broader Scripps Research mission by partnering with STSI to engage the CTSA network, bringing to bear drug discovery tools that could enable rapid translation of new therapeutic approaches to patients,” says Matt Tremblay, PhD, chief operating officer of Calibr.

STSI will continue to work with long-standing clinical partner Scripps Health, and with the San Diego Supercomputer Center who provides infrastructure support for a number of big data projects in genomics, digital medicine and informatics.

In addition to supporting research, the CTSA at STSI funds the training of future leaders in translational science through a professional development award that allows for early career clinical researchers to pursue specialized training in translational research. It also supports translational research training for doctoral students at TSRI.

The grant numbers are UL1TR002550, KL2TR002552 and TL1TR002551.

About The Scripps Research Institute
The Scripps Research Institute (TSRI) is one of the world’s largest independent, not-for-profit organizations focusing on research in the biomedical sciences. TSRI is internationally recognized for its contributions to science and health, including its role in laying the foundation for new treatments for cancer, rheumatoid arthritis, hemophilia, and other diseases. An institution that evolved from the Scripps Metabolic Clinic founded by philanthropist Ellen Browning Scripps in 1924, the institute now employs more than 2,500 people on its campuses in La Jolla, CA, and Jupiter, FL, where its renowned scientists—including two Nobel laureates and 20 members of the National Academies of Science, Engineering or Medicine—work toward their next discoveries. The institute’s graduate program, which awards PhD degrees in biology and chemistry, ranks among the top ten of its kind in the nation. In October 2016, TSRI announced a strategic affiliation with the California Institute for Biomedical Research (Calibr), representing a renewed commitment to the discovery and development of new medicines to address unmet medical needs. For more information, see http://www.scripps.edu.

About the Scripps Translational Science Institute
The Scripps Translational Science Institute (STSI) of The Scripps Research Institute focuses on individualized medicine, using the tools of digital medicine and genomics to better understand each person and render more effective healthcare. In 2016, STSI was awarded a grant for over $200M by the National Institutes of Health’s Precision Medicine Initiative to lead the All of Us Research Program’s Participant Center. STSI is further supported, since 2008, by the flagship NIH Clinical and Translational Science Award to promote human health and train future leaders in biomedicine. For more information, visit www.stsiweb.org.

For information:
The Scripps Research Institute
Office of Communications
Tel: 858-784-2666 / Email: press@scripps.edu

Personalized Medicine Initiatives Offer Hope to Acutely Ill Children at Nicklaus Children’s Hospital

MIAMI – April 17, 2018 – Nicklaus Children’s Hospital, in collaboration with Rady Children’s Institute for Genomic Medicine and Sanford Health, has launched two genomic medicine research protocols to more effectively diagnose and treat children with unexplained illnesses.

The three participating entities have a shared commitment to clinical innovation and research collaboration that enhance patient care, decrease healthcare costs and further the scientific understanding of rare genetic diseases in children. Nicklaus Children’s Hospital and San Diego-based Rady Children’s Institute, are part of the Sanford Children’s Genomic Medicine Consortium, which is committed to advancing children’s medicine through integration of genomics into pediatric care. Sanford Health is an integrated health system headquartered in the Dakotas.

The goal of genomic medicine is to develop a precision care plan for each child based on determining an underlying genetic diagnosis. The collaboration between Nicklaus Children’s and Rady Children’s Institute will offer whole genome sequencing (WGS) to children in two settings: · Acutely ill patients with undetermined illnesses in Nicklaus Children’s three intensive care units (neonatal, pediatric and cardiac). These children will be eligible for rapid whole genome sequencing (rWGS) testing to provide the fastest possible results. · Children with chronic undiagnosed medical conditions. These children, often described as being on a “diagnostic odyssey,” have typically visited multiple specialists in search of a definitive diagnosis to support treatment.

Through the collaboration, Nicklaus Children’s will send patient blood samples to Rady Children’s Institute for Genomic Medicine in San Diego. Whole genome sequencing, bioinformatics analysis, and initial clinical interpretation will occur in San Diego and the experts at Nicklaus Children’s will use the results to care for children in Miami.

For acutely ill newborns and children, rWGS, a relatively new test, can provide much faster diagnoses than traditional genome testing, mapping a whole genome in less than a week. A confirmed diagnosis can be vital in the first days of life to direct appropriate, and sometimes life-saving, clinical care.

For diagnostic odyssey patients, WGS is used to provide long-sought answers for families in search of a diagnosis for a chronically ill child. Often these families have visited multiple specialists and undergone myriad tests and procedures in their young lives. Whole genome sequencing can unlock answers for these families.

Both efforts are part of the Personalized Medicine Initiative at Nicklaus Children’s Hospital led by Jennifer McCafferty, Ph.D., director of Nicklaus Children’s Research Institute and Personalized Medicine Initiative.

“We are thrilled to be at the leading edge of genomic medicine in pediatrics. This program is a great example of how Nicklaus Children’s partners on discovery and delivers on clinical impact for children and families in South Florida,” said Dr. McCafferty. “Genomic medicine offers hope to parents of sick children who have not yet received a diagnosis.”

Both the diagnostic odyssey and intensive care unit rWGS efforts are in the research phase and not yet offered as a standard of care. Physicians at Nicklaus Children’s Hospital are able to refer potential candidates to the research team for possible enrollment in these initiatives.

Since July 2016, Rady Children’s Institute for Genomic Medicine has performed rapid whole genome sequencing for more than 431 acutely ill children enrolled in its research studies. As of April 9, approximately one-third of patients sequenced have received a genomic diagnosis with 63 percent of those benefitting from an immediate change in clinical care.

“The information we receive from whole genome sequencing is helping medical teams make treatment decisions, providing hope to these children and families,” said Stephen Kingsmore, M.D., D.Sc., president and CEO of Rady Children’s Institute for Genomic Medicine. “This is the beginning of our long-term vision to save babies with rare, life-threatening diseases by making genomic testing available to NICUs, PICUs and CICUs nationwide.”

Membership in the Sanford Children’s Genomic Consortium, which was inspired by the vision of philanthropist Denny Sanford, also includes Sanford Children’s, Children’s Hospital Los Angeles, Children’s Hospital Colorado, Banner Children’s at Diamond Children’s Medical Center in Tucson and Children’s Minnesota.

About Nicklaus Children’s Hospital
Founded in 1950 by Variety Clubs International, Nicklaus Children’s Hospital is South Florida’s only licensed specialty hospital exclusively for children, with nearly 800 attending physicians and more than 475 pediatric subspecialists. The 289-bed hospital, known as Miami Children’s Hospital from 1983 through 2014, is renowned for excellence in all aspects of pediatric medicine with many specialty programs routinely ranked among the best in the nation by U.S. News & World Report. The hospital is also home to the largest pediatric teaching program inthe southeastern United States and has been designated an American Nurses Credentialing Center (ANCC) Magnet facility, the nursing profession’s most prestigious institutional honor. For more information, please visit www.nicklauschildrens.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 and partner hospitals. The vision is to expand delivery of this integrated translational research process to enable the practice of precision pediatric medicine at children’s hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at www.RadyGenomics.org.

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 45 hospitals and nearly 300 clinics in nine states and four countries. Sanford Health’s 28,000 employees, including more than 1,300 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.

For more information:
Nicklaus Children’s Hospital
Rachel Perry
305-663-8476
Rachel.Perry@nicklaushealth.org

Rady Children’s Institute for Genomic Medicine
Grace Sevilla
619-855-5135
gsevilla@rchsd.org

New GUINNESS WORLD RECORDS™ Title Set for Fastest Genetic Diagnosis

Innovations in Whole Genome Sequencing Speed Answers and Hope for Newborns and Children with Rare, Genetic Diseases

San Diego—Feb. 12, 2018–Scientists at the Rady Children’s Institute for Genomic Medicine (RCIGM) have compressed the time needed to decode rare genetic disorders in newborns through DNA sequencing to less than a day. Read More

Renowned Scientists Join Rady Children’s Institute of Genomic Medicine Scientific Advisory Board

San Diego—Jan. 3, 2018 – The Rady Children’s Institute for Genomic Medicine (RCIGM) is pleased to announce that six influential life science researchers have been recruited to serve on the Institute’s inaugural Scientific Advisory Board (SAB).

“Each of these brilliant scientists is an authority in their respective field,” said Dr. Stephen Kingsmore, president and CEO of the Institute. “By sharing their expertise and leadership with us, they will play a vital role in helping to calibrate our goals and oversee our progress in advancing pediatric genomic medicine.”

RCIGM was founded with the mission of enabling diagnosis, treatment and targeted clinical care for newborns and children with rare, life-threatening diseases. The Institute is focused on delivering exact diagnoses through rapid Whole Genome Sequencing (rWGS) to facilitate fast, precise medical care of the most fragile young patients.

“Since the inception of the Institute we have sought to assemble the talent, technology and resources to transform healthcare for children in San Diego and around the world,” said David F. Hale, chair of the Institute board of directors. “By welcoming these prominent researchers to our Scientific Advisory Board, we take a major step toward fulfilling that vision.”

The members of the SAB bring deep research expertise in cancer, molecular biology, genetics, neuroscience, biomedical informatics and biomedical engineering. All are recipients of national science academic honors and they include a Nobel Laureate and heads of renown research institutes. To ensure objectivity, none have ties to the Institute or Rady Children’s Hospital-San Diego.

The Institute began genomic sequencing in July 2016. As of the end of November 2017, the team had completed testing and interpretation of the genomes of more than 240 children enrolled in its research studies. More than one-third of the patients have received a genomic diagnosis with more than 65 percent of those benefiting from an immediate change in clinical care.

Currently, rWGS is being offered only to patients at Rady Children’s Hospital-San Diego and patients at children’s hospitals participating in RCIGM’s research studies. Earlier this year, the Institute began providing testing services for Children’s Hospital of Orange County and Children’s Minnesota.

The external Scientific Advisory Board has been established to provide objective evaluation and guidance to the Institute with respect to its scientific direction and activities. The six members of the SAB are as follows:

1. James R. Downing, M.D., Chair
President and Chief Executive Officer
St. Jude Children’s Research Hospital
An expert in molecular diagnostics and leading pediatric cancer researcher, he was instrumental in launching the Pediatric Cancer Genome Project which has sequenced the genomes of more than 800 young cancer patients.

2. Elizabeth Blackburn, Ph.D.
President
Salk Institute for Biological Studies
She won the Nobel Prize in Physiology or Medicine in 2009 for discovering the molecular nature of telomeres, the ends of chromosomes that serve as protective caps essential for preserving genetic information, and for co-discovering telomerase, an enzyme that maintains telomere ends.

3. George Church, Ph.D.
Professor
The Wyss Institute at Harvard University
He co-initiated the BRAIN Initiative and Genome Projects to provide and interpret the world’s only open-access personal precision medicine data. His innovations in synthetic biology have been the basis for launching several companies.

4. Cato T. Laurencin, M.D., Ph.D.
University Professor and Van Dusen Distinguished Professor
The University of Connecticut
An orthopedic surgeon and biochemical engineer, he has pioneered regenerative engineering science for the creation of knee and shoulder issues. He is the recipient of the National Media of Technology and Innovation, our nation’s highest honor for technological achievement, awarded by the White House.

5. Thomas R. Insel, M.D.
Former Director of the National Institute of Mental Health at the National Institutes of Health
Former Director of Mental Health Research, Verily Life Sciences.
President, Mindstrong Health
He is a neuroscientist and psychiatrist. While at NIH he launched the Research Domain Criteria Project to transform diagnostics and led an overhaul of the clinical trials program to focus on targets and mechanisms.

6. Isaac Kohane, M.D., Ph.D.
Professor and Chair, Department of Biomedical Informatics, Harvard Medical School
Professor of Pediatrics, Boston Children’s Hospital
He develops and applies computational techniques to address disease at multiple scales—from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism.

Clinical Grade Rapid Whole Genome Sequencing Now Offered at Rady Children’s Institute for Genomic Medicine

San Diego – November 17, 2017 – Rady Children’s Institute for Genomic Medicine (RCIGM) is now licensed and certified to perform clinical grade diagnostic testing to decode the DNA of babies and children with rare genetic disorders.

Rapid whole genome sequencing (rWGS) is being deployed under clinical research studies being conducted by scientists at the Institute’s Clinical Genome Center. Receiving the Clinical Grade certification allows RCIGM scientists to rapidly sequence, interpret and deliver the results directly to doctors to speed diagnosis and targeted medical treatment.

“Our laboratory processes are engineered to reveal disease-causing gene variations in as little as three days, compared with the weeks required to obtain results with traditional testing methods,” said Shimul Chowdhury, Director of the Clinical Genome Center. “Speed is especially important for those newborns who are struggling to survive.”

RCIGM has pioneered the use of rWGS in newborns. Currently, rWGS is being offered only to patients receiving intensive care at Rady Children’s Hospital-San Diego and patients at children’s hospitals participating in RCIGM’s research studies.

In 2015, Stephen Kingsmore, the founder and president of the Institute, achieved the Guinness World Record for the fastest genetic diagnosis via rapid Whole Genome Sequencing in just 26 hours.

RCIGM’s Clinical Genome Center became one of the few laboratories in the country licensed and certified to perform clinical-grade whole exome and whole genome sequencing following stringent review and inspections from multiple agencies.

“The team at Rady Children’s Institute Clinical Genome Center demonstrates leadership, innovation, and a passionate commitment to standards of excellence while providing the highest quality services for patients,” said Bharati Jhaveri, M.D., FCAP, chair of the College of American Pathologists Council on Accreditation.

The Clinical Genome Center has been awarded accreditation by the College of American Pathologists (CAP), certification via the Clinical Laboratory Improvement Amendments (CLIA) by the Centers for Medicare and Medicaid Services as well as a Clinical Laboratory License from the State of California.

The Institute began genomic sequencing in July 2016 and has since completed testing and interpretation of the genomes of more than 225 children enrolled in its research studies. More than one-third of the patients have received a genomic diagnosis with more than 60 percent of those benefitting from an immediate change in clinical care.

Earlier this year, the Institute initiated collaborations to provide testing services for Children’s Hospital of Orange County and Children’s Minnesota. Genomic testing is performed at the Clinical Genome Center only through research studies. Because such testing is largely not covered by medical insurance, genomic testing at the Institute is funded by private philanthropy and research grants.

“Our ultimate goal is that genomic sequencing in pediatric intensive care becomes routine,” said Chowdhury. “We’ve seen the benefits of this testing at Rady Children’s Hospital and we are working to extend our capabilities to other children’s hospitals. We feel very strongly that genetic testing offers a lot of benefit for patients and families.”

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 and partner hospitals. The vision is to expand delivery of this integrated translational research process to enable the practice of precision pediatric medicine at children’s hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. 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 2017, 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: Grace Sevilla 858-966-1710 (o); 619-855-5135 (c) gsevilla@rchsd.org

Research Finds Zika Infection May Affect Adult Brain Cells, Suggesting Risk Might Not Be Limited to Pregnant Women

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Concerns over the Zika virus have focused on pregnant women due to mounting evidence that it causes brain abnormalities in developing fetuses. However, new research in mice from scientists at The Rockefeller University and La Jolla Institute for Allergy and Immunology suggests that certain adult brain cells may be vulnerable to infection as well. Among these are populations of cells that serve to replace lost or damaged neurons throughout adulthood, and are also thought to be critical to learning and memory.

“This is the first study looking at the effect of Zika infection on the adult brain,” says Joseph Gleeson, M.D., adjunct professor at Rockefeller, head of the Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute investigator, and the Auxiliary Neuroscience Endowed Chair at Rady Children’s Institute for Genomic Medicine. “Based on our findings, getting infected with Zika as an adult may not be as innocuous as people think.”

Although more research is needed to determine if this damage has long-term biological implications or the potential to affect behavior, the findings suggest the possibility that the Zika virus, which has become widespread in Central and South America over the past eight months, may be more harmful than previously believed. The new findings were published in Cell Stem Cell on August 17, 2016.

“Zika can clearly enter the brain of adults and can wreak havoc,” says Sujan Shresta, a professor at the La Jolla Institute of Allergy and Immunology. “But it’s a complex disease—it’s catastrophic for early brain development, yet the majority of adults who are infected with Zika rarely show detectable symptoms. Its effect on the adult brain may be more subtle, and now we know what to look for.”

Neuronal progenitors

Early in gestation, before our brains have developed into a complex organ with specialized zones, they are comprised entirely of neural progenitor cells. With the capability to replenish the brain’s neurons throughout its lifetime, these are the stem cells of the brain. In healthy individuals, neural progenitor cells eventually become fully formed neurons, and it is thought that at some point along this progression they become resistant to Zika, explaining why adults appear less susceptible to the disease.

But current evidence suggests that Zika targets neural progenitor cells, leading to loss of these cells and to reduced brain volume. This closely mirrors what is seen in microcephaly, a developmental condition linked to Zika infection in developing fetuses that results in a smaller-than-normal head and a wide variety of developmental disabilities.

The mature brain retains niches of these neural progenitor cells that appear to be especially impacted by Zika. These niches—in mice they exist primarily in two regions, the subventricular zone of the anterior forebrain and the subgranular zone of the hippocampus—are vital for learning and memory.

Gleeson and his colleagues suspected that if Zika can infect fetal neural progenitor cells, it wouldn’t be a far stretch for them to also be able to infect these cells in adults. In a mouse model engineered by Shresta and her team to mimic Zika infection in humans, fluorescent biomarkers illuminated to reveal that adult neural progenitor cells could indeed be hijacked by the virus.

“Our results are pretty dramatic – in the parts of the brain that lit up, it was like a Christmas tree,” says Gleeson. “It was very clear that the virus wasn’t affecting the whole brain evenly, like people are seeing in the fetus. In the adult, it’s only these two populations that are very specific to the stem cells that are affected by virus. These cells are special, and somehow very susceptible to the infection.”

Beyond fetal brain infection

The researchers found that infection correlated with evidence of cell death and reduced generation of new neurons in these regions. Integration of new neurons into learning and memory circuits is crucial for neuroplasticity, which allows the brain to change over time. Deficits in this process are associated with cognitive decline and neuropathological conditions, such as depression and Alzheimer’s disease.

Gleeson and colleagues recognize that healthy humans may be able to mount an effective immune response and prevent the virus from attacking. However, they suggest that some people, such as those weakened immune systems, may be vulnerable to the virus is a way that has not yet been recognized.

“In more subtle cases, the virus could theoretically impact long-term memory or risk of depression,” says Gleeson, “but tools do not exist to test the long-term effects of Zika on adult stem cell populations.”

In addition to microcephaly, Zika has been linked to Guillain-Barré syndrome, a rare condition in which the immune system attacks parts of the nervous system, leading to muscle weakness or even paralysis. “The connection has been hard to trace since Guillain-Barré usually develops after the infection has cleared,” says Shresta. “We propose that infection of adult neural progenitor cells could be the mechanism behind this.”

There are still many unanswered questions, including exactly how translatable findings in this mouse model are to humans. Gleeson’s findings in particular raise questions such as: Does the damage inflicted on progenitor cells by the virus have lasting biological consequences, and can this in turn affect learning and memory? Or, do these cells have the capability to recover? Nonetheless, these findings raise the possibility that Zika is not simply a transient infection in adult humans, and that exposure in the adult brain could have long-term effects.

“The virus seems to be traveling quite a bit as people move around the world,” says Gleeson. “Given this study, I think the public health enterprise should consider monitoring for Zika infections in all groups, not just pregnant women.”

Joseph Gleeson also holds appointments at the University of California San Diego School of Medicine and Rady Children’s Hospital-San Diego, as the first endowed chair at Rady Children’s Institute for Genomic Medicine. This research was supported by the NIH R01NS041537, R01NS048453, R01NS052455, P01HD070494, P30NS047101, the Simons Foundation Autism Research Initiative (SFARI), the Howard Hughes Medical Institute, California Institute of Regenerative Medicine (J.G.G.) and NIH R01 AI116813 (S.S.) and Druckenmiller Fellowship from New York Stem Cell Foundation (H.L).

Media Contact:
Ben Metcalf
(868) 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 Expands Rapid Whole Genome Sequencing to Children’s Minnesota

San Diego/Minneapolis, Minn. – July 11, 2017 – Uniting to advance pediatric precision medicine, Rady Children’s Institute for Genomic Medicine has signed an agreement with Children’s Minnesota to provide Rapid Whole Genome Sequencing (rWGS) to more effectively treat critically ill infants in Children’s Minnesota’s neonatal intensive care unit (NICU). Read More

Expanded Use of Rapid Whole Genome Sequencing for Critically Ill Babies in Orange County

Collaboration between two Southern California Children’s Hospitals Aimed at Advancing Precision Medicine

San Diego – June 20, 2017 – In the first outreach beyond San Diego County, Rady Children’s Institute for Genomic Medicine (RCIGM) has signed an agreement with CHOC Children’s (CHOC) to provide rapid whole genome sequencing and bioinformatics analysis to help critically ill infants in neonatal and pediatric intensive care units (NICU/PICUs) enrolled in collaborative RCIGM-CHOC research.

RCIGM and CHOC share a strong interest in clinical innovation and research collaboration that enhance patient care, decrease health care costs and further the scientific understanding of both rare and common complex genetic diseases in children. The initial collaboration between RCIGM and CHOC is expected to result in data and discoveries to improve the whole genome sequencing (WGS) process and to establish the clinical utility of WGS for the early diagnosis and treatment of acutely ill infants and children. “This is the beginning of our long- term vision to improve the lives of acutely ill babies by extending rapid whole genome sequencing (WGS) to NICUs and PICUs nationwide,” says president and CEO of RCIGM, Stephen Kingsmore, MD, DSc. “Our goal is that more children can be helped by the power of WGS, and we can prove its clinical utility so ultimately all who need it may have access.”

Since July 2016, RCIGM has performed rapid whole genome sequencing for over 100 families with acutely ill children enrolled in its research studies. As a result, approximately 40 percent have received a genomic diagnosis with 80 percent of those benefitting from an immediate change in clinical care.

Under the collaboration, CHOC will send biological sample materials to RCIGM’s clinical genome center in San Diego where rapid whole genome sequencing, bioinformatics analysis and clinical interpretation will take place. The results will be reported back to physicians at CHOC who will partner with the RCIGM team to incorporate genomic findings into the clinical care of patients in CHOC’s NICU and PICU.

“Our collaboration with Rady Children’s Institute for Genomic Medicine provides us the opportunity to expand our current research efforts,” says Kimberly Chavalas Cripe, president and CEO of CHOC. “The impressive turnaround of results by the Rady Children’s team is expected to save lives by decreasing the time between an acute diagnosis and the implementation of effective treatment for difficult cases in our neonatal and pediatric intensive care units. We are excited about partnering with RCIGM to bring advances in molecular medicine to the bedside of some of our most vulnerable patients.”

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 expand delivery of this integrated translational research process to enable the practice of precision pediatric medicine at children’s hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. 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.

Media Contact:
Grace Sevilla
858-966-1710 (o) 619- 855-5135 (c)
gsevilla@rchsd.org

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.