With a completed 21 floors, 466,000 square feet, and a breathtaking view of Philadelphia’s Schuylkill River, the Roberts Center for Pediatric Research officially opened in May 2017. The curvy building has open floor plans that foster collaboration among research and administrative personnel. And the Family Research Center in the Roberts Building allows for a range of specialized evaluations of children and families, typically through direct observation, survey, or even CHOP’s driving simulator.

The latest addition to CHOP’s campus is named after the Roberts Family, who generously donated $25 million toward the Roberts Collaborative for Genetic and Individualized Medicine in 2016. The Collaborative combines existing genetics and genomics centers at CHOP for a multidisciplinary approach to developing novel treatments and understanding of rare and complex diseases. Both the Collaborative and the Roberts Center at which it is headquartered are a nod to the exciting potential that genetics and genomics research hold in current investigations as well as in years to come. At the Roberts Center grand opening, Bryan Wolf, MD, Executive Vice President and Chief Scientific Officer at CHOP Research Institute, said that the Roberts Center and the Collaborative will help transform our efforts to progress personalized medicine. 

The Hospital acquired the property in 2010 and began planning for construction. The ground-level spaces outside the building offer new possibilities for neighbors to gather as a community, and a pedestrian bridge connects to the popular Schuylkill River Trail.

Bringing a research breakthrough from the bench to the bedside often takes years of hard work and support. In 2015, CHOP launched the Frontiers Program Initiative to support large internal programs in fast-tracking cutting-edge research pioneered in their labs and clinics. This year, an oversight panel selected three new Frontier Programs: the Mitochondrial Medicine Center, the Newborn and Infant Chronic Lung Disease Program, and the Center for Pediatric Airways Disorders. The programs receive funding from the hospital and programmatic guidance from a multidisciplinary steering committee.

With its new designation as a Frontier Program, the Mitochondrial Medicine Center aims to address the growing prevalence and heterogeneity of mitochondrial disorders, genetic conditions that result from dysfunction in our body’s tiny cellular batteries. The Center will drive research and clinical care forward by improving communication among clinicians from multiple disciplines who treat mitochondrial patients, finding novel ways to diagnose children with mitochondrial conditions, and developing new therapies, according to Marni Falk, MD, director of the Mitochondrial Medicine Frontier Program.

Meanwhile, the Center for Pediatric Airway Disorders, the largest multidisciplinary center in the world for treating airway conditions, will use its new Frontier designation to expand both its research effort and its clinical reach. A new bioengineering materials scientist will lead and develop a new cartilage and bioengineering materials laboratory. Frontier funding will also help to further develop a number of novel treatments and devices, according to Ian Jacobs, MD, medical director of the Center. These include the identification of the most ideal beverage or solution for mitigating button battery injuries and the commercialization of a 3-D printed tracheal model to be used in simulation training for teaching tracheostomy care to healthcare professionals and parents.

Finally, the Newborn and Infant Chronic Lung Disease Program (NeoCLD), one of the largest specialty programs in the country, will focus on advancing translational research and continue developing liquid ventilation — a therapeutic innovation 25 years in the making. Liquid ventilation aims to give infants who develop severe breathing problems a stronger chance of survival by delivering oxygen to their lungs through liquid instead of air.

“The Frontier Program will take us to the next step, which includes multicenter trials, and it will allow us to expand several trials simultaneously,” said William Fox, MD, medical director of the Infant Breathing Disorder Center at CHOP and a neonatologist within NeoCLD.

Learn more about the new Frontier Programs on Bench to Bedside.

As next-generation sequencing has quickly become more sophisticated, less expensive, and faster in the last decade, the Center for Applied Genomics (CAG) at CHOP is pioneering its use to diagnose, prevent, and manage rare pediatric diseases with the help of reliable informatics. In December 2016, the CAG reached an important milestone: It received Clinical Laboratory Improvements Amendments (CLIA) certification. Mandated by the Centers for Medicare & Medicaid Services, CLIA certification ensures that a laboratory team continuously adheres to high standards in all aspects of their work—from the integrity of lab procedures to the safety of research participants—and can prove it through bi-annual proficiency tests.

“This reflects a major accomplishment from the entire team at CAG who worked tirelessly for many months to achieve this milestone,” said Avni Santani, PhD, director of Clinical Laboratories, Strategic Partnerships, and Innovation at the CAG. “The CAG team is excellent and dedicated to the pursuit of quality in every step of the pathway from specimen collection to data analysis.”

Now positioned as the only CLIA-certified high throughput sequencing and SNP-array facility that operates within a robust children’s research institute, CAG can join and lead collaborations with other academic, biotechnology, and pharmaceutical organizations worldwide by supporting large clinical research studies. The Center’s new CLIA status might also pave the way for future third-party collaborations with genetic carrier screening services, as mainstream interest into genomics grows, according to Hakon Hakonarson, MD, PhD, director of CAG. In this case, the CAG would work on the complex genomic work of isolating DNA and then provide the third-party company with information about its client’s results. Genetic counselors would help to interpret the findings and explain them to concerned families.

These new partnerships also could speed discovery about rare and complex pediatric diseases. “We will always ask for the opportunity to use the samples and information we gather in a de-identified way for research,” Dr. Hakonarson said. “This will allow for our biobank to grow much faster and allow far more productive research to be done.”

Learn more about how the CAG plans to drive breakthroughs with their new CLIA certification on Bench to Bedside.

As new technologies transform the way researchers communicate information to the wider world, a new center is taking the opportunity to chip away at the ongoing narrative that depicts the teen years as one of stress and strain for parents. Two experts in the division of Adolescent Medicine at CHOP launched the new Center for Parent and Teen Communication (CPTC) with a three-year grant from the John Templeton Foundation and funding from the HIVE at Spring Point and Drs. Kathy Fields and Garry Rayant. Through the CPTC, a multi-disciplinary team of clinicians, researchers, and social media strategists will work together to promote the health, well-being, and character of adolescents through research, education, and advocacy.

“Adolescents quite literally represent our future, and it is critical that we create the right developmental milieu for them to become their best selves,” said Ken Ginsburg, MD, physician in the division of Adolescent Medicine and co-founder of the CPTC. “Core to that development is their relationship with their parents. With so many undermining messages about that relationship, we want to give positive developmental messages that will change the tone and tenor of the conversation.”

The Center currently houses a Research Core focused on improving parent-teen communication at the doctor’s office, and a Translation and Dissemination Core that will translate evidence-informed information into written and video materials that are easily accessible and consumer-friendly. Through the Research Core, Carol Ford, MD, chief of the division of Adolescent Medicine and co-founder of the CPTC, conducts primary research on the important role doctors and nurses play in improving parent-teen communication.

“Parents and doctors both want the best health outcomes for their teens, and we really need to understand how doctors and nurses can better partner with parents, while also respecting their values, culture, and parenting styles,” Dr. Ford said.

Dr. Ginsburg leads the effort to translate and disseminate existing research about positive youth development and parenting through a comprehensive website and the online social community.

“Social media now sets the discourse for conversation,” Dr. Ginsburg said. “It’s where people now turn to for information. The challenge is that the information is not always rooted in research and doesn’t always give the most developmentally appropriate advice.”

Learn more about the new Center for Parent and Teen Communication at CHOP on Bench to Bedside.

Since 2013, the number of interventional clinical trials approved by CHOP’s Institutional Review Board has doubled to 600, encompassing a broader range of studies than ever before. In line with this growth, the Oncore Clinical Trial Management System rolled out across CHOP’s enterprise in 2017. It is a powerful and comprehensive platform for managing a clinical trial throughout its lifecycle, simplifying data management, and improving compliance. OnCore is a testament to the Research Institute’s continued commitment in its strategic plan to enhance and improve clinical trials for the benefit of both researchers and the patients and families who join our studies with the hope of advancing pediatric health.

Another exciting initiative to enhance clinical research strategies that began in early summer is a partnership with the hospital’s division of Language Services that brought interpreter services to non-English speaking study participants. This language support improves accessibility to clinical trials for a diverse group of families. And the newly rebranded Center for Human Phenomic Science (CHPS) opened in the Wood Building, improving and expanding patient/family evaluation and in-house laboratory space. The goal of the CHPS is to provide the resources, environment, operations, and training to support and promote high-quality clinical and translational research by qualified investigators.

The new Lifespan Brain Institute (LiBI) is uniquely positioned as a broad collaboration between CHOP and the Perelman School of Medicine at the University of Pennsylvania that supports research across the fetal-adult continuum, which is a pillar of CHOP Research Institute’s strategic plan. By studying the brain’s development — and tracking psychiatric symptoms as they emerge from childhood to adulthood — researchers can get to the root of mental health conditions.

Co-directed by Raquel Gur, MD, PhD, professor of Psychiatry Neurology and Radiology at Penn, and Stewart Anderson, MD, a CHOP research psychiatrist and professor of Psychiatry at Penn, LiBI has assembled large data sets that allow researchers from multiple specialties to study the underlying genetic, molecular, cellular, system, and behavioral functions that likely intersect with environmental factors and contribute to the development of psychiatric illnesses.

“We know that neuropsychiatric illnesses that present in later childhood, adolescence or adulthood, have pathological antecedents that start way before symptoms begin,” Dr. Anderson said. “Ideally, we’d really like to intercept the pathological process before people get sick, or before they get any sicker than necessary.”

LiBI held its first mental health research symposium, “Pathological Antecedents to Neuropsychiatric Disorders,” March 12, 2018, at the Smilow Center for Translational Research. The event gathered 200 attendees, including basic to translational scientists and child to adult psychiatrists, in order to discuss the importance of studying mental illness throughout the lifespan.

Several LiBI researchers are using data from the Philadelphia Neurodevelopmental Cohort (PNC) to conduct longitudinal analyses and dig deeply into the neurobiological development of mental illness. Funded by the National Institutes of Mental Health, the PNC is a collaboration between the Center for Applied Genomics at CHOP and the Brain Behavior Laboratory at the University of Pennsylvania. The cohort includes a population-based sample of over 9,500 individuals, ranging from 8 to 21 years old, who received medical care at the CHOP network.

For example, Ted Satterthwaite, MD, director of Imaging Analytics at LiBI, and David Roalf, PhD, research assistant professor at LiBI, are using multimodal imaging efforts through LiBI and the PNC to understand how the brain develops normally, so that investigators can plot types of development and understand how abnormal development is associated with risk and resilience. While Dr. Roalf focuses on advances in translational neuroimaging, particularly imaging brain glutamate, Dr. Satterthwaite focuses on executive deficits in psychiatric syndromes.

With designation as a Rett Syndrome Clinical Research Center of Excellence by the nonprofit organization RettSyndrome.org, scientists at CHOP joined forces with 13 other clinics across the U.S. to dig deeper into the neurodevelopmental disorder’s biology and pathology. Eric Marsh, MD, director of the Neurogenetics Program at CHOP, currently leads the Center of Excellence through a natural history study and other associated projects.

“It’s an honor to be chosen, and it shows that we’re doing good work,” said Dr. Marsh of the new designation. “There is a lot of research activity going on that we hope to be a part of into the future to really see a change for the care of these girls and kids with related diseases too.”

With all 14 Centers of Excellence working collaboratively, the Natural History of Rett Syndrome and Related Disorders study tracks and gathers data from Rett patients to examine the phenotypic differences and similarities of children with the MECP2 mutation that is at the root of the syndrome. The information will hopefully provide a baseline by which clinicians can compare patients to, especially as research gets closer to discovering treatments, according to Dr. Marsh.

As a subproject of that study, Dr. Marsh is also taking a closer look into the brain biomarkers of Rett symptoms by using visual and auditory evoked potential tests. Preliminary studies show that the brain responds differently for children with Rett compared to healthy, age matched controls. By placing electrodes on Rett patients’ scalps, researchers can measure the brain’s electrical activity and signature in response to the stimulation, or “evoking,” of certain sensory nerve pathways.

“Our hypothesis is that the signature will be more different and get worse over time,” Dr. Marsh said. “If that does happen, you can imagine that if you give a patient a particular drug and you see the signature go closer toward the normal response, then it would suggest that your intervention is working.”

CHOP was also chosen to be an initial site of the Rett Syndrome Research Trust Clinical Trial Consortium. The initiative, launched in the fall of 2017, seeks to give expert Rett physicians from a number of institutions the resources and personnel they need to conduct high-quality clinical trials with efficiency and eliminate barriers to sharing important information to advance Rett research and treatment.

Read more about our research to end Rett from the perspective of the Connors, a patient family participating in the natural history study and other trials at CHOP, on Cornerstone. Learn more about CHOP’s designation as a Rett Syndrome Clinical Research Center of Excellence on Bench to Bedside.