Breaking News
July 19, 2018 - Compounds found in green tea and wine may block formation of toxic metabolites
July 19, 2018 - Gene regulator associated with protein pileup in exfoliation glaucoma
July 19, 2018 - Trump administration summons immigrant infants
July 19, 2018 - FDA grants approval for first breast cancer drug through ‘Real-Time Oncology Review’
July 19, 2018 - Five tips for men seeking plastic surgery
July 19, 2018 - Researchers discover the reasons why some people get dizzy when hearing certain sounds
July 19, 2018 - Research project investigates snake venom treatment as antibiotic alternative for eye infections
July 19, 2018 - Melanoma could soon be detected using a blood test
July 19, 2018 - Exposure to bright light may have big impact on sleep-related behavior in children
July 19, 2018 - Deleting single gene in gut bacteria affects metabolism, reduces weight gain in mice
July 19, 2018 - New proteomics studies help gain more insights into Alzheimer’s, cancer and listeriosis
July 19, 2018 - Study finds major discrepancies in prescription drug labeling pregnancy information across four countries
July 19, 2018 - Cellectar’s CLR 131 Receives FDA Orphan Drug Designation for Treatment of Ewing’s Sarcoma
July 19, 2018 - Watching the immune system in action reveals what happens when things goes wrong
July 19, 2018 - Increasing blood sugar levels improves memory and performance in older adults
July 19, 2018 - Connection between self-regulation and obesity appears to be different for girls and boys
July 19, 2018 - Researchers develop new, less destructive method for whitening teeth
July 19, 2018 - Revving up innate control of viral infection requires a three-cell ignition
July 19, 2018 - Inaccurate direct-to-consumer raw genetic data can harm patients, new research suggests
July 19, 2018 - Weight loss surgery is effective under the right situations
July 19, 2018 - BioTek awarded patent for autofocus feature on microplate reader
July 19, 2018 - Low-carb diets reduce stiffness of arteries in women and promote weight loss in men
July 19, 2018 - New review examines cannabinoids’ potential for direct treatment of cancer
July 19, 2018 - Allergic responses may help protect the skin against cancer, research suggests
July 19, 2018 - Inappropriate Prescribing of Abx High in Urgent Care Centers
July 19, 2018 - Many at risk for HIV despite lifesaving pill
July 19, 2018 - Tips for doctors and parents on the harms of marijuana use for teens
July 18, 2018 - Researchers detect presence of IgE antibodies after kidney transplantation
July 18, 2018 - New technique allows researchers to create large scale, personalized bone grafts
July 18, 2018 - Smoking May Boost Atrial Fibrillation Risk
July 18, 2018 - Genome editing method targets AIDS virus
July 18, 2018 - These things matter: Medical complications are not inevitable, a physician writes
July 18, 2018 - Cognitive functions often wilt as water departs the body, shows study
July 18, 2018 - Origins of bread found 14,400 years ago in Jordan
July 18, 2018 - Low-dose ketamine found to be as effective as opioids for treating acute pain
July 18, 2018 - Novel bioengineering technique could help repair bone defects
July 18, 2018 - Researchers identify new potential target protein for colon cancer
July 18, 2018 - Air pollution contributes significantly to diabetes globally
July 18, 2018 - Cell membrane’s importance offers new strategy to fight infections
July 18, 2018 - Researchers identify key protein involved in irregular brain cell activity
July 18, 2018 - 3D modeling of drug resistance could lead to more effective cancer treatment
July 18, 2018 - Hunger hormones could be key to new treatments for drug, alcohol addiction
July 18, 2018 - Nitrate-cured meats may contribute to mania, study finds
July 18, 2018 - Why men may recover more quickly from influenza infections than women
July 18, 2018 - Study finds discharge against medical advice as predictor of readmissions in heart attack patients
July 18, 2018 - KemPharm Announces Top Line Results from KP415.E01 Efficacy and Safety Trial in Children With ADHD
July 18, 2018 - Self-control and obesity: Gender matters in children
July 18, 2018 - Bioengineers, diabetes researchers convene to discuss future concepts for precision medicine
July 18, 2018 - New findings support more conservative use of ED neuroimaging for non-index seizures
July 18, 2018 - Practicing yoga benefits pregnant women, study suggests
July 18, 2018 - New strategy may lead to more accurate breast cancer diagnoses
July 18, 2018 - FDA Approves Symtuza (D/C/F/TAF), the First and Only Complete Darunavir-Based Single-Tablet Regimen for the Treatment of HIV-1 Infection
July 18, 2018 - New guide helps hospitals pick right partner to handle hospitalist services
July 18, 2018 - Deep data dive helps predict cerebral palsy
July 18, 2018 - Stricter firearm legislation associated with reduced murder and suicide rates
July 18, 2018 - Physical and sexual abuse in childhood associated with endometriosis risk
July 18, 2018 - Omega 3 supplements do not reduce risk of heart disease, stroke or death
July 18, 2018 - GSA’s new publication provides support for safe use of OTC analgesics by older adults
July 18, 2018 - Researchers receive grant from U.S. Department of Education to study children with HFASD
July 18, 2018 - Early childhood adversity increases sensitivity of the body’s immune response to cocaine
July 18, 2018 - Parental incarceration affects health behaviors of children in adulthood
July 18, 2018 - Researchers find that yellow fever and Asian tiger mosquitoes can carry new virus
July 18, 2018 - Two Regimens Fail to Stop Declines in β-Cell Function
July 18, 2018 - Researchers apply computing power to track the spread of cancer
July 18, 2018 - Olfactory receptors play pathophysiological role in all organs than merely smell perception
July 18, 2018 - Fish consumption associated with lower risk of early death
July 18, 2018 - MR Solutions’ 7T MRI imaging system installed at University of Hawaii
July 18, 2018 - Humorous ads screened around World Cup game achieve higher biometric response than sporty ads
July 18, 2018 - New study demonstrates little effect of hormone therapy on artery thickness
July 18, 2018 - A 3-Pronged Plan to Cut Type 2 Diabetes Risk
July 18, 2018 - New clues to sepsis may speed diagnosis
July 18, 2018 - Stars of Stanford Medicine: Improving cardiovascular health in Africa and beyond
July 18, 2018 - Heart attack risk continues to increase among pregnant women, study finds
July 18, 2018 - Few tips to help avoid sunburns in summer
July 18, 2018 - High-fat diet and systemic inflammation contribute to progression of prostate cancer
July 18, 2018 - Researchers develop 3D map of gene interactions that play key role in heart disease
July 18, 2018 - Conservative management of lung subsolid nodules reduces overtreatment and unnecessary surgery
July 18, 2018 - Report warns of dog illness that can spread to owners
July 18, 2018 - A winning essayist’s tips for keeping track of scientific facts
July 18, 2018 - Researchers seek to understand role of APOE mutation in Alzheimer’s disease
DNA patterns in circulating blood cells can help identify spastic cerebral palsy

DNA patterns in circulating blood cells can help identify spastic cerebral palsy

image_pdfDownload PDFimage_print

A Delaware team including Erin Crowgey, PhD, associate director of Bioinformatics with Nemours Biomedical Research, has published a study in the peer-reviewed 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). Co-authors of the paper include Robert Akins, PhD, the project principal investigator, who directs the Center for Pediatric Clinical Research and Development at Nemours/Alfred 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 1 in 323 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 (85-90%) with cerebral palsy are born with it, diagnosis may be delayed until 2+ 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 3,000 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 9-19 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 2-5 years, the researchers were able to validate their results and predict with 73 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 2 years of age, then potentially we’ll 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 10 to 26 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 cell’s 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 person’s genome, or complete set of DNA, is like a word that’s the length of 3 billion characters; but spelled with only the letters A, T, C or G. Traditional DNA sequencing techniques decode sections of DNA 700 characters at a time, while NGS takes advantage of parallel computing capabilities, enabling scientists to decode millions of DNA fragments. Subtle changes in a patient’s 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 shifts–meaning the way a person’s 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. It’s 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 2 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.

“We’re still in the early phases, but the results are extremely promising and we’re 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 12 months. We’re 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 (<10 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, Nemours/Alfred I. duPont Hospital for Children

Source:

https://www.nemours.org/about/mediaroom/press/dv/blood-test-predicts-spastic-cerebral-palsy.html

Tagged with:

About author

Related Articles