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Newly Linked Epilepsy Genes, Pediatric Safety Research, Teen Intern Recruits for Research, CHOP Visits UAE, Trends in Opioid Prescription

Published on February 8, 2019 in Cornerstone Blog · Last updated 6 months ago


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This week, we highlight the results of innovation powered by collaboration, within Children’s Hospital of Philadelphia Research Institute and around the globe. A multicenter, international consortium revealed genes newly linked to epilepsy, while CHOP CEO Madeline Bell visited Dubai for an interchange of knowledge and technology at the largest medical conference in the world. Closer to home, the Children’s Hospitals’ Solutions for Patient Safety Network, comprised of 135 hospitals in the United States, published its findings on the most effective targets for pediatric patient safety research, and a high school intern helped researchers recruit participants for a teen driving study. Learn about the latest trends in pediatric opioid prescription, and get an update on the Delaney family, whose conjoined twin daughters were separated with painstaking care by a multidisciplinary team at CHOP.

International Research Consortium Reveals New Epilepsy Genes

More than 150 researchers from five continents contributed to a study by the International League Against Epilepsy Consortium on Complex Epilepsies (ILAE Consortium), with results published in Nature Communications.

The ILAE consortium performed a genome-wide association study comparing DNA from 15,000 patients with epilepsy to DNA from 30,000 healthy control subjects, to discover genetic locations linked to epilepsy risk. Of the 24 collections of DNA, the largest group was the Philadelphia Cohort, led by CHOP. That cohort contributed DNA from 1,734 cases and 9,337 controls, drawn from Caucasian and African-American populations recruited by the Center for Applied Genomics (CAG) at CHOP.

“This study illustrates the importance of multicenter consortia,” said Hakon Hakonarson, MD, PhD, co-author and director of the CAG. “No individual cohort would provide enough samples with the statistical power to find associations such as you can obtain from this mega-analysis with tens of thousands of samples.”

The study revealed 16 significant loci, 11 of which had not previously been associated with epilepsy. These risk variants led the researchers to 21 candidate genes most likely to have a role in epilepsy, and the team identified various biological functions among those genes, such as regulating signal transmission between brain cells and metabolizing vitamin-B6.

The researchers also found that 13 out of 24 currently licensed anti-epilepsy drugs target genes implicated in the current study. In addition, they identified 166 other known drugs that target some of their candidate genes. These findings offer the potential to identify further targets for epilepsy treatments.

Learn more in this post by co-author Ingo Helbig, MD, attending physician and epilepsy genetics researcher in CHOP’s Division of Neurology, on Beyond the Ion Channel, the official blog of the Genetics Commission of the International League Against Epilepsy.

Children’s Hospital Safety Network Outline Research Priorities

Researchers and collaborators from the Children’s Hospitals’ Solutions for Patient Safety (SPS) Network have outlined 24 research priorities for improving pediatric patient care safety. These priorities are detailed in a study published in the journal Pediatrics.

Investigators gathered input from parents, clinicians, and hospital leaders to identify the most important safety topics. Among those determined to be critical to safety were how hospitals use high reliability principles, create and improve their safety culture, communicate about patient care, and use early warning systems to proactively detect and prevent patient decline.

These results should inform health system leaders and patient safety experts seeking to dedicate resources to the highest priority areas to improve the safety of pediatric healthcare. Stakeholders best positioned to determine high priority issues, such as parents, identified research priorities that could further improve success.

The SPS Network includes more than 135 children’s hospitals, including CHOP, working together to eliminate serious harm across all children’s hospitals. Christopher Forrest, MD, PhD, professor of pediatrics at CHOP, was a co-author on the study.

High School Student Assists CHOP Researchers With Study Design, Recruitment

Eighteen-year-old Kate Schell spent the past seven months helping CHOP researchers design a teen driver study, recruiting 20 participants, and leading a focus group about how to recruit even more. The Courier Post reported on the unique internship opportunity that brought Schell, a senior at Collingswood High School, and CHOP together.

Working alongside Chelsea Ward McIntosh, MS, CCRP, driving simulator core coordinator and clinical research coordinator at the Center for Injury Research and Prevention, Schell helped design research that studies the way teen drivers perform on the road. Using cognitive and simulation tests, researchers aim to reveal links between how young drivers think and make decisions, and how they react to distractions, unexpected obstacles, and unpredictable drivers.

Schell will be acknowledged as part of the research team when the study results are published. CHOP researchers hope to replicate the collaborative experience in future studies with additional high schools and highly motivated interns like Schell to attract more teen drivers.

UAE Medical Conference Highlights CHOP Breakthroughs

Members of the CHOP research community represented our organization at the Arab Health Exhibition and Congress held Jan. 28-31 at the Dubai International Convention and Exhibition Centre. As part of a longstanding partnership with the United Arab Emirates Ministry of Health and Prevention, CHOP exhibited some of its leading medical breakthroughs.

Among the innovations showcased were an investigational fluid-filled environment that mimics as closely as possible how a fetus experiences life in the womb. The device could one day lessen mortality and morbidity rates in severely premature infants. They also highlighted the United States first-ever approved personalized gene immunotherapy for cancer.

This unique opportunity illustrates the shared goals of CHOP and the UAE to combine advanced medical technology with compassionate care to provide the best possible outcomes for children.

“Whether a child comes to us from Philadelphia, or from halfway around the world, it is our spirit of shared innovation with partners such as the UAE that ensures every child is given the best treatment options available,” Bell said. “Whether we’re fast-tracking discoveries that may benefit babies born prematurely, reprogramming a child’s own immune system to kill leukemia cells, or leading the charge on new cellular gene therapies, we are committed to solutions that give all children the ultimate gift: a lifetime.”

Study Reveals Trends in Pediatric Opioid Prescriptions

As the opioid epidemic in the United States continues, physician-researchers at CHOP are looking at prescription patterns in children.

Researchers analyzed 65,190 pediatric cases between 2013 and 2017 across nine different surgical specialties in the CHOP Network. They found that while rates of prescribing remained stable, doctors prescribed opioids for shorter durations and lower individual dose amounts. While that trend is encouraging, researchers also found that doctors were more likely to prescribe opioids to females, ethnic minorities, and patients with public insurance.

“The trends we saw in our study are reassuring,” said Ronald S. Litman, DO, corresponding author and an anesthesiologist in the Department of Anesthesiology and Critical Care Medicine at CHOP. “However, we are concerned about the bias we found in prescribing trends, and need to better understand why doctors are prescribing certain patients more opioids.”

The findings, “Trends in Postoperative Opioid Prescribing in Outpatient Pediatric Surgery,” were published Jan. 17, 2019, in Pain Medicine.


Nearly Two Years Later, Twins Thrive After Complex Separation 

Nearly two years after the successful separation of craniopagus conjoined twins, CHOP surgical team leaders published the details of the case in the Jan. 24 New England Journal of Medicine.

In June 2017, their 11-hour separation surgery made Erin and Abbey Delaney international celebrities at 10 months of age, being among the youngest known to be successfully separated. Even for conjoined twins, the Delaney twins’ condition was among the rarest of the rare, occurring about six times in 10 million births. Even moreso, the girls’ connection extended deep into brain tissue, and they shared a superior sagittal sinus, which carries blood from the brain to the heart.

The report details how the 30-person multidisciplinary team used and adapted surgical technologies, such as using computer-aided design and modeling to print a three-dimensional model to assist in surgical planning. Months before the full separation surgery, a custom-designed external distraction device was placed to gradually push the twins apart by one or two millimeters a day. For the final surgery, the team used a computer-aided intraoperative navigation system to map the interconnected blood vessels, which needed to be painstakingly divided between the twins.

The journal article summarizes the condition of the twins at 21 months old, 11 months following the innovative procedure. Jesse Taylor, MD, who co-led the surgical separation and is now chief of the Division of Plastic and Reconstructive Surgery at CHOP, said, “After this long and complicated surgery, these little girls are recovering, developing, and growing. We are honored to have helped make this happen.”

Read the press release for more details about the case, plus video and photos of the Delaney twins.

Catch up on our headlines from our Jan. 25 edition of In the News:

  • Philadelphia Pediatric Device Consortium Expands to Span the State of Pa.
  • Evaluating Humanized CAR T-cell Therapy in Patients With Down Syndrome
  • CHOP Study Reports Many Parents Unaware of Teen Suicidal Thoughts
  • ‘Today’ Show Features CHOP/Penn Research Into Future Fertility for Boys With Cancer
  • Children’s Hospitals More Likely to Give Recommended Antibiotics for Pneumonia
  • Center for Autism Research Hosts SPARK for Autism Family Day in February

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