News

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