Partnership to Advance Orthopedic Genomics for Pediatric Patients

Shriners Hospitals for Children is collaborating with The Jackson Laboratory (JAX) to leverage genomics and develop new treatments for pediatric patients with orthopedic conditions.  

Individual genetic data can lead to the identification of disease-related variations, or gene alterations, which can result in better ways to diagnose and treat pediatric orthopedic diseases and other conditions.

As part of the agreement, Shriners Hospitals for Children will perform next-generation sequencing on DNA from families and children at its 22 hospitals and outpatient locations in North America and its international network of outreach clinics.

“We are excited to collaborate with the world-renowned Jackson Laboratory to advance precision medicine and specialized pediatric care for the more than 100,000 patients we treat every year,” said Marc Lalande, PhD, vice president of research programs, Shriners Hospitals for Children.

Researchers at JAX will provide expertise on genomic data analysis, specialized knowledge bases and algorithms, and the microbiome. JAX researchers will also work to develop mouse models carrying the same genetic variations as patients with these rare pediatric diseases, which will provide impactful research platforms for discovering new treatments and important clinical information.

The partnership is part of Shriners Hospitals for Children’s new Genomics Institute. Based at its headquarters in Tampa, Florida, the Genomics Institute aims to find the genetic causes of orthopedic conditions and disabilities, such as clubfoot, scoliosis, and osteogenesis imperfecta. The goal is to reduce and eventually eliminate the potential for a lifetime of medical care and personal struggle.

“Through sophisticated, next generation sequencing of DNA samples from our patient population, Shriners Hospitals hopes to gain the understanding needed to create more targeted, efficient and personalized treatments and therapies,” Lalande said at the time the institute was launched.

“We are proud to be at the forefront of this next major step toward bringing new hope and healing to children and families the world over.”

The partnership between Shriners Hospitals and The Jackson Laboratory adds to industry efforts to integrate genomics with pediatric care. In April 2018, three pediatric medical centers introduced genomic medicine initiatives designed to accelerate treatment and diagnoses for children with unexplained illnesses.

Nicklaus Children’s Hospital of Miami, Rady Children’s Institute for Genomic Medicine, and Sanford Health partnered to offer whole genome sequencing tests to patients to enhance understanding of rare genetic diseases in children.

"The information we receive from whole genome sequencing is helping medical teams make treatment decisions and providing hope to these children and families," Stephen Kingsmore, MD, DSc, president and CEO of Rady Children's Institute for Genomic Medicine, said at the time.

"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."

Shriners Hospitals for Children and The Jackson Laboratory will further advance the use of genomics in pediatric care, improving disease diagnosis and treatment for children.

“Harnessing the power of genomics to understand the basis for orthopedic and other pediatric diseases is of the utmost importance,” said Charles Lee, PhD, FACMG, scientific director and professor, The Jackson Laboratory for Genomic Medicine. “This research can bring hope to countless families, and we’re looking forward to working with Shriners Hospitals to help children around the world.”