The two organizations will work with a large set of data derived from CP patients and their families with the goal of uncovering potential new methods of diagnosis and treatment

TAMPA, Fla., April 16, 2021 (GLOBE NEWSWIRE) -- Cerebral palsy (CP) is the most common motor disability in childhood, affecting approximately one in every 500 children. The condition, which describes a range of neurological disorders ranging in severity and symptoms from case-to-case, can impact coordination, cognitive function, muscle tone and balance.

Despite CP’s prevalence, in most cases, its causes are still unclear, and there is no diagnostic test or effective therapy.

But whole genome sequencing (WGS) and analysis may provide important answers about the causes of this condition, potentially resulting in improved methods of diagnosis and treatment, and bringing hope to the many families affected by CP.

A new research affiliation agreement between Shriners Hospitals for Children (SHC) and The Jackson Laboratory (JAX) will endeavor to gain greater understanding of the genetic factors involved in CP. The affiliation will apply clinical characterization and genome sequencing to a data set of 500 children affected by CP, as well as their parents, which represents the largest group of CP patients and their families ever to be investigated in this way. All data analyzed in the study will be de-identified to ensure subjects’ privacy.

Shriners Hospitals, which will provide data on the 500 patients, is well-positioned to play a leading role in this research due to the large number of children with CP that are treated throughout their health care system. Whole genome sequencing of the DNA samples will be performed via Illumina NovaSeq technology by Dr. Kamran Shazand and his team from the SHC Genomics Institute laboratory in Tampa, Florida.

The detailed clinical and phenotypic characterization of the CP individuals will be led by Jon R. Davids, M.D., assistant chief of Orthopaedic Surgery, Shriners Hospitals for Children — Northern California, and Ben Ali Chair in Pediatric Orthopaedics at the University California at Davis. Anita Bagley, Ph.D., co-director of the Motion Analysis Center at the Northern California Shriners Hospital, is Co-Investigator on the project. “The Shriners’ commitment to caring for tens of thousands of children has led to many advances in orthopaedic care (which focuses on the musculoskeletal manifestations of CP, such as gait disruption and hip dysplasia) over the years,” said Dr. Davids. 

“The partnership with Peter Robinson and JAX lab provides the opportunity to learn more about the genetic causes of CP, which will certainly have an impact on clinical decision-making in the future, and perhaps someday facilitate the development of novel treatment paradigms that will minimize the musculoskeletal manifestations of this condition. This collaboration takes Shriners Hospitals for Children research on CP in a new and important direction; I am honored to be part of the team on this innovative project.”

JAX’s Peter Robinson, M.D., MSc., professor of computational biology who specializes in developing algorithms and software for the analysis of exome and genome sequences, will lead the computational analysis of the large set of data at JAX, an independent, nonprofit biomedical research institution.

“Despite discovering CP in the 19th century, little progress has been made in understanding its causes,” Robinson said. “This is an excellent opportunity to gain a better understanding of the genetic variants and molecular pathways that underlie CP or contribute to increased susceptibility to it. We hope that this knowledge will translate to improved care in the coming years.”

The exact causes of CP have long been unclear. Researchers believe the condition may result from irregular brain development during pregnancy, premature birth, birth injuries – including lack of oxygen – or other issues. Nonetheless, as many as one-third of children with CP lack traditional risk factors. Physicians often diagnose a patient only after other conditions have been ruled out.

Genetic causes and susceptibilities for CP have been considered, but never studied to this degree. The research therefore has the potential to shed significant light on why some children develop this disorder, from both a genetic and environmental angle, and identify novel disease genes that contribute to, or cause, CP. Identifying the genetic factors involved will provide insight into CP subgroups, as well, allowing for the development of precise treatment strategies tailored to each one.

The collaborative agreement also combines unique clinical and research resources. In addition to his work with genome analysis, Robinson develops tools that enable researchers to work with clinical data, such as that contained in electronic medical records (EMRs), for computational analyses. This will provide a bridge between the genomic data and the expert clinical characterizations made by Shriners Hospitals for Children physicians, including MRI imaging. The connection will allow researchers to associate genetic variations with disease traits and patient diagnoses with unprecedented precision.

“The goal of our research is to improve the quality of life of all children seen across the world by Shriners Hospitals for Children,” said Marc Lalande, Ph.D., vice president of Research Programs at Shriners Hospitals for Children. “In addition, Shriners Hospitals plans to be a world leader in the genetics and genomics of many conditions seen in our specialty clinical settings, including cerebral palsy. Our surgeons and clinicians are already world-renowned for their treatment of children with cerebral palsy, and this research project aims to develop new therapeutic approaches by knowing which genes play a role in the severity and outcome of this complex disorder.”

The research conducted by the two organizations has the potential to uncover new methods of diagnosis and treatment of CP, which has the potential to improve many lives in the future.

“Understanding the genetic mechanisms behind CP could result in an entirely new way of looking at this disorder, providing hope and potential new treatment options for the many children and families affected by CP,” said Charles Lee, Ph.D., FACMG, director and professor at The Jackson Laboratory for Genomic Medicine. “We are excited to continue our work with Shriners Hospitals for Children, building upon our common goal to improve human health and make a difference in some of most difficult biomedical research areas.”

This research affiliation is the second agreement between the two institutions. The first focuses on identifying advanced treatment approaches for children with genetic orthopedic conditions.

About The Jackson Laboratory

The Jackson Laboratory is an independent, nonprofit biomedical research institution with more than 2,400 employees. Headquartered in Bar Harbor, Maine, it has a National Cancer Institute-designated Cancer Center, a genomic medicine institute in Farmington, Conn., and facilities in Ellsworth, Maine, Sacramento, Calif., and Shanghai, China. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. For more information, please visit www.jax.org.

About Shriners Hospitals for Children

Shriners Hospitals for Children is changing lives every day through innovative pediatric specialty care, world-class research and outstanding medical education. Our health care system provides care for children with orthopaedic conditions, burns, spinal cord injuries, and cleft lip and palate. All care and services are provided regardless of the families’ ability to pay. Since opening its first location in 1922, the health care system has treated more than 1.4 million children. To learn more, please visit shrinershospitalsforchildren.org.

Ashley Ozols
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Jon R. Davids, M.D., assistant chief of Orthopaedic Surgery, Shriners Hospitals for Children — Northern California

Jon R. Davids, M.D., assistant chief of Orthopaedic Surgery, Shriners Hospitals for Children — Northern California, and Ben Ali Chair in Pediatric Orthopaedics at the University California at Davis, will be leading the detailed clinical and phenotypic characterization of the CP individuals.

Dr. Marc Lalande and Dr. Kamran Shazand at the Genomics Institute

Marc Lalande, Ph.D., vice president of Research Programs at Shriners Hospitals for Children, and Kamran Shazand, Ph.D., director of the Shriners Hospitals for Children Genomics Institute in Tampa, Florida.

The Shriners Hospitals for Children Genomics Institute in Tampa, Florida

The team conducting research at the Shriners Hospitals for Children Genomics Institute.

Research conducted at the Genomics Institute

This research may provide important answers about the causes of Cerebral Palsy, potentially resulting in improved methods of diagnosis and treatment, and bringing hope to the many families affected by the condition.