"A Delaware team including Erin Crowgey PhD associate director of Bioinformatics with Nemours Biomedical Research has published a study in the peerreviewed journal BMC Bioinformatics showing that DNA patterns in circulating blood cells can be used to help identify spastic cerebral palsy CP patients Crowgey et al..  The work represents a collaboration among researchers at Nemours the University of Delaware UD and Genome Profiling LLC GenPro for short. Coauthors of the paper include Robert Akins PhD the project principal investigator who directs the Center for Pediatric Clinical Research and Development at NemoursAlfred I. duPont Hospital for Children UD molecular biologist Adam Marsh PhD who is chief science officer at GenPro and Karyn Robinson MS and Stephanie Yeager MS of Nemours Biomedical Research. Early diagnosis supports early intervention  Cerebral palsy is a common yet understudied neurodevelopmental problem in the U.S. In fact there is no national surveillance here but the CDC estimates that  in  American children have the condition. CP is a group of disabilities with a wide spectrum of severity. Spastic CP the most common type is a lifelong condition characterized by joint stiffness spasms and muscle tightness that affects movement and posture and restricts the activity of affected children. Although most children  with cerebral palsy are born with it diagnosis may be delayed until  years of age. A diagnosis is made by monitoring motor milestones infants thought to be at risk for CP are enrolled in early intervention programs where their progress is closely watched. New and better ways to identify infants with CP are needed so that interventions can start earlier for more children. Nemours internationally recognized for its CP center at Alfred I. duPont Hospital for Children serves a diverse population of more than  children and young adults with CP one of the largest programs in the U.S. Clinicians and researchers at Nemours continuously seek to improve the diagnosis and care of CP patients. Funding from the Swank Foundation enabled Nemours to develop a cerebral palsy tissue bank that stores blood and tissue samples from hundreds of surgical patients at Nemours.  In the study the research team profiled blood samples collected in a blinded study from children and adolescents  years to explore whether patients with spastic CP showed differences at the cellular level that routine orthopedic patients needing ACL repairs spinal fusions or other surgeries did not. The researchers identified a strong set of methylation markers or patterns that indicate differences in the genome between children with spastic CP and those without it. In a second study using samples from children aged  years the researchers were able to validate their results and predict with  percent accuracy whether the blood samples came from children who had CP. The evidence suggests that there is some epigenetic connection said Crowgey. If we can do a better job of screening for these at time of birth versus waiting for the disorder to be diagnosed at  years of age then potentially well be able to deliver earlier therapeutics and have better outcomes and lower medical costs. Medicaid data show that annual medical costs for a child with CP are  to  times higher than for those without CP. The power of data science analytics and machine learning  The study leverages a unique statistical method and software platform originally developed by Dr. Marsh at UD and commercialized by GenPro to measure methylation patterns in DNA a cells genetic code using next generation sequencing NGS data. NGS is a technique that enables scientists to decode DNA faster and more cheaply than traditional DNA sequencing methods. Each persons genome or complete set of DNA is like a word thats the length of  billion characters but spelled with only the letters A T C or G. Traditional DNA sequencing techniques decode sections of DNA  characters at a time while NGS takes advantage of parallel computing capabilities enabling scientists to decode millions of DNA fragments. Subtle changes in a patients physical health are paralleled by changes in DNA methylation making it a useful tool to understand disease. Many of the signals that we pick up are based on immune system shiftsmeaning the way a persons immune system responds to external stress events. When we find that epigenetic response or signal in the genetic sequencing it provides another line of evidence for clinicians to use in making decisions said Marsh. The approach uses sophisticated machine learning techniques and algorithms to sort through hundreds of gigabytes of NGS data looking for these distinct DNA methylation patterns. The data set is massive. Its not something a human can do. You need infrastructure machine learning data analysis and data science said Crowgey. Promising results more testing needed  While the study findings indicate that there is a consistent signal present in circulating blood cells of children with spastic CP that remains from early childhood to the teenage years the researchers say they need to further study samples from different age groups including teenagers toddlers and infants from birth to  years. Learning more about methylation signals across ages will allow the approach to be further refined to identify cases and also could provide researchers new clues to understanding the cellular processes involved in advancing CP and consequently new therapeutics to manage the disease.  Were still in the early phases but the results are extremely promising and were excited about the sensitivity of the test that we are seeing in our retrospective analysis said Crowgey. If successful the researchers say the type of blood test in development also may be useful for other disorders such as infant leukemia. Akins was optimistic. This is an example of the kind of innovation that can happen when people with different skill sets collaborate. The experimental testing went from idea to validated execution in less than  months. Were now working toward a goal of eventually forming a clinical diagnostic test and applying it to a broad population. Akins added that Nemours is in a unique position for such an undertaking with its large CP population its growing strength in data science and analytics and its recent acquisition of newborn screening for the state of Delaware. Many issues will need to be addressed but we predict routine screening for CP in the near  years future he said.   This research is funded by the Delaware Bioscience Center for Advanced Technology the National Science Foundation the American Academy for Cerebral Palsy and Developmental Medicine and Nemours. Pull out quote  This blood test could be a game changer. The earlier the diagnosis the earlier we can direct therapies at the child. Specifically high intensity physical therapy and possibly early surgery to prevent more significant problems in the future and hopefully improve overall function and quality of life. M. Wade Shrader MD Chief Cerebral Palsy Center NemoursAlfred I. duPont Hospital for Children About Nemours Childrens Health System Nemours is an internationally recognized childrens health system that owns and operates the two freestanding childrens hospitals the NemoursAlfred I. duPont Hospital for Children in Wilmington Del. and Nemours Childrens Hospital in Orlando Fla. along with outpatient facilities in six states delivering pediatric primary specialty and urgent care. Nemours also powers the worlds mostvisited website for information on the health of children and teens KidsHealth.org and offers ondemand online video patient visits through Nemours CareConnect. Nemours ReadingBrightstart.org is a program dedicated to preventing reading failure in young children grounded in Nemours understanding that child health and learning are inextricably linked and that reading level is a strong predictor of adult health.  Established as The Nemours Foundation through the legacy and philanthropy of Alfred I. duPont Nemours provides pediatric clinical care research education advocacy and prevention programs to families in the communities it serves."