Le Lézard
Classified in: Health
Subjects: NPT, CHI

Personalized Medicine Initiatives Offer Hope To Acutely Ill Children At Nicklaus Children's Hospital


MIAMI, April 17, 2018 /PRNewswire-USNewswire/ -- 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.

Nicklaus Children's Hospital logo

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:

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 children 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, PhD, 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, MD, DSc, 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 in the 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
[email protected]

Rady Children's Institute for Genomic Medicine
Grace Sevilla, 619-855-5135
[email protected]

Rady Children's Institute for Genomic Medicine

Sanford Health

SOURCE Nicklaus Children's Hospital


These press releases may also interest you

at 06:31
Hangzhou Tigermed Consulting Co., Ltd. ("Tigermed" or the "company") (Stock code: 300347.SZ / 3347.HK), a leading global provider of integrated research and development solutions for biopharmaceutical and medical device industry, announced its annual...

at 06:30
Caris Life Sciences®(Caris), the leading next-generation AI TechBio company and precision medicine pioneer that is actively developing and delivering innovative solutions to revolutionize healthcare and improve the human condition using molecular...

at 06:30
The collagen water market is booming thanks to the growing popularity of health and beauty products. Consumers are more interested in skincare and healthy eating, which is driving manufacturers to create collagen-infused drinks and cosmetics. A new...

at 06:30
Viavi Solutions Inc. (VIAVI)  today announced it has participated in the 2024 RIC Forum, March 26-28, in Dallas, Texas. The company contributed its TeraVM RIC Test and TM500 Network Tester to multiple demonstrations, building on collaborations at MWC...

at 06:30
Three clinical programs present diversified opportunities in and outside the existing anti-VEGF market and are being progressed toward Phase 3 value inflection points  New Phase 3 GLOW2 study of tarcocimab in diabetic retinopathy actively...

at 06:30
The "PCR Markets. Forecasts for qPCR, dPCR, Singleplex & Multiplex Markets and by Application, Product and Place. With Executive and Consultant Guides, Including Customized Forecasting and Analysis. 2023 to 2027" report has been added to...



News published on and distributed by: