Press Releases

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.

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