This week we’re all about getting smart in our highlights of research news from The Children’s Hospital of Philadelphia. Getting smart in the approach to tackling childhood cancer means identifying strategies that will make a decade’s progress in half the time — which is exactly the focus of the national Cancer Moonshot. Another new story this week highlights a smart approach to precision therapies for neurological diseases, which involves delving into the genetic causes of epilepsy and finding drugs that target the molecular pathways involved. And smart monitoring of how youth truly fare after a concussion entails checking on their activities and their symptoms in real time — exactly the approach just demonstrated to work with a pilot study of a mobile app. Check out the details of the stories below, but first, share in our excitement about an amazing accomplishment.
‘Twice Born’ Wins Emmy for Stories of Courageous Families and CHOP’s Fetal Team
We’re thrilled to announce that The National Academy of Television Arts & Sciences awarded an Emmy to PBS for the acclaimed documentary, “Twice Born — Stories From the Special Delivery Unit,” which features CHOP’s Center for Fetal Diagnosis and Treatment and its unique Garbose Family Special Delivery Unit. The three-part series won in the Outstanding Science and Technology Programming category.
The documentary shares the stories of four patient-families facing daunting challenges to their unborn babies and features the expert teams at CHOP who cared for them. The Center offers everything from testing to fetal surgery to postnatal care, and since its inception in 1995, Center surgeons have performed more than 1,200 fetal surgeries. Its experts treat a wide range of conditions, including congenital diaphragmatic hernia, conjoined twins, spina bifida, and twin-twin transfusion syndrome.
All three full episodes are available on Netflix or Amazon Instant Video.
What the Cancer Moonshot Might Mean for Kids
Two weeks ago, the Blue Ribbon Panel (BRP) for the National Cancer Institute (NCI) revealed its recommendations for a scientific roadmap to achieve the Cancer Moonshot initiative’s ambition to achieve a decade of progress against cancer in the next five years.
Two of the BRP’s 10 scientific recommendations deal directly with children’s cancer. CHOP pediatric oncologist and BRP member Peter Adamson, MD, discussed the recommendations in more detail in a U.S.News & World Report story this week.
Dr. Adamson also discussed the BRP’s recommendation to intensify research on fusion oncoproteins, caused by two genes fusing together, which are known to drive a number of cancers in children and adults. He also helped put the need for more childhood cancer research into perspective. Although survival rates have improved, cancer is still the leading cause of disease-related death in children — so improving long-term survival rates for children with cancer is an imperative goal.
“More importantly, what children have to endure to achieve long-term survival is unacceptable,” Dr. Adamson said. “About 4 out of 5 children at some point during treatment experience life-threatening side effects. We've gotten very good at taking care of children with life-threatening side effects, but no one believes that's an acceptable approach to medical treatment.”
Read more at USNews.com.
Case Report of Precision Medicine Approach in Severe Epilepsy
Bringing the promise of precision medicine to complex neurological conditions like severe epilepsy is tremendously challenging. A recently published case report about two children with a newly identified gene disorder that causes severe epilepsy shows some much-needed, albeit limited, progress. Researchers from CHOP were among the leaders of the international team of clinical geneticists, genetic counselors, bioinformaticians, neurologists and basic scientists who published their study online Sept. 8 in the American Journal of Human Genetics.
The researchers identified two unrelated children, one in Philadelphia and one in Europe, who had a recurrent mutation in GRIN2D, a gene not previously known to harbor disease-causing mutations. Subsequent laboratory studies of the molecular pathways affected by this mutated gene ultimately led to the suggestion that an oral medication approved for use in Alzheimer’s disease could have potential value as a therapy for these children. Both children initially experienced moderate improvement on this medication. After the Philadelphia patient’s condition worsened, two pediatric neurologists at CHOP, Eric Marsh, MD, PhD, and Xilma R. Ortiz-Gonzalez, MD, PhD, further analyzed the laboratory data. They identified a new drug combination that again reduced the child’s seizures and allowed her to regain some developmental skills.
“Much more work, including randomized clinical trials, remains to be done to learn whether therapies such as these, targeted to a specific gene disorder can be applied to other patients with similar subtypes of epilepsy,” said study leader and clinical geneticist Marni Falk, MD, director of the Mitochondrial-Genetic Disease Clinic at CHOP. “However, our study demonstrates that pursuing functional studies to validate and explore the significance of specific gene mutations is essential to begin to identify precise treatments for otherwise intractable neurodevelopmental disease. Genomic analyses, tied to functional studies and embracing multidisciplinary collaborations that bring together diverse domains of necessary expertise, are essential to advance toward precision medicine in complex pediatric disorders.”
Mobile App for Monitoring Concussion Recovery
Researchers from CHOP and the Perelman School of Medicine at the University of Pennsylvania this week announced success using a mobile app to monitor concussion recovery in youth. Their paper published in JAMA Pediatrics details their pilot study with 34 participants ages 11 to 19 who used the app to complete surveys about their activities and symptoms when prompted to do so at random intervals.
“Our pilot study does several things,” said the study’s lead author Douglas J. Wiebe, PhD, an associate professor in Penn’s department of Biostatistics and Epidemiology and the Center for Clinical Epidemiology and Biostatistics. “First, it shows that using our app with this protocol offers a feasible way of gathering objective measures of physical activity and reports of cognitive activity and post-concussion symptoms in real time in pediatric patients. Second, it presents intriguing findings of possible relationships between cognitive and physical activity and post-concussion symptoms. If replicated, this could change how physicians care for their pediatric concussion patients. Third, larger studies can now be pursued with this research approach to obtain objective measures of activity rather than simply relying on self-report.”
Read more in the Penn Medicine news release.
In case you missed it earlier this week on Cornerstone, we brought you new insights into trends in food allergies, asthma, and allergic rhinitis, from a population study conducted by CHOP investigators.
Last week’s In the News post shared news of a CHOP investigator speaking at a precision health conference, research on distractions for teen drivers (other than Pokémon), and an update on the Stand Up to Cancer fundraising telecast.
Or subscribe to our newsletter to get an email sent every other Friday by signing up here, or via the box on the upper right of this page.