Children's Hospital makes a significant investment in translational research. This investment includes the creation of the following Centers of Emphasis, established to target effort and resources to areas of research that will have the greatest impact on translating basic research findings to medical innovations.
Here are our current Centers of Emphasis.
The Center for Applied Genomics (CAG) develops new and better ways to diagnose and treat children affected by complex medical disorders, both common and rare. Led by Hakon Hakonarson, MD, PhD, CAG’s primary goal is to translate basic research findings into medical innovations. The Center aims to discover the genetic causes of childhood diseases, both common and rare, including some of the most debilitating diseases in children such as autism, epilepsy, schizophrenia, diabetes, and pediatric cancer. Ultimately, the center’s objective is to discover genetic markers that can accurately diagnose patient subsets with genetic abnormalities that guide physicians to the most appropriate therapies for them.
CAG is one of the world's largest genetics research programs, and the only center at a pediatric hospital to have established a large-scale biobank with hundreds of thousands of biological samples that have been genotyped or sequenced, making numerous discoveries that have unveiled the causes of pediatric disease, for which new and innovative diagnostic products and therapies are being developed.
Many of our patient families have yet-undiscovered genetic syndromes, and the Bhoj lab uses advanced sequencing technology to identify these novel syndromes. Two of the syndromes we now focus on are caused by disruption of Histone 3.3 (H3F3A and H3F3B) and TBC1 domain-containing Kinase (TBCK). To read more about the work taking place in the Bohj lab, please click here.
The Center for Autism Research coordinates and supports research into the causes of the autism spectrum disorders (ASDs). The Center's programs of research are predicated on the belief that effective treatments will follow from a better understanding of causal mechanisms.
Led by Robert T. Schultz, PhD, in collaboration with other Children's Hospital faculty, the CAR establishes a broad-based research program aimed at fundamental discoveries into causes of the ASDs. The Center establishes programs of research focused on developmental, neurobiological and genetic mechanisms of the ASDs, with a particular emphasis on understanding the individual differences across the spectrum. Affiliated faculty also engage in research to evaluate the current standard of care for patients with an ASD and to test the effectiveness of promising new treatments.
Cellular and Molecular Therapeutics
The Raymond G. Perelman Center for Cellular and Molecular Therapeutics facilitates rapid translation of pre-clinical discoveries into clinical application. One of few such programs based at a pediatric institution, the center collaborates with other major programs to pursue new therapies for inherited and acquired disorders. Beverly Davidson, PhD, Department of Pathology and Laboratory Medicine, leads the center, which also serves as an educational resource for investigators, clinicians, students, patient families and the general public.
The center has dedicated resources and personnel to help facilitate rapid translation. For example, the cGMP facility produces clinical-graded vectors in accordance with Food and Drug Administration regulations. In addition, given the complicated nature and the government's stringent regulations of cell and gene therapy, the center guides and assists investigators through the regulatory approval process.
Childhood Cancer Research
The Center for Childhood Cancer Research, directed by Stephen P. Hunger, MD, represents a highly integrated basic, translational, and clinical research environment dedicated to eradicating the pain and suffering caused by cancer in children. This goal will ultimately be realized by bringing together the diverse talents of investigators in the Hospital's renowned multidisciplinary program in pediatric cancer research, patient care, and genomics to define translational research opportunities that can impact patient lives. This has been happening already with new therapies focused on acute leukemias, brain tumors and neuroblastomas that have made major impacts on reducing tumor burden with preserving quality of life --a major accomplishment in pediatric and adult cancer.
The Center's organization supports an environment where basic scientists interact with master clinicians around the central theme of improving cure rates through translational research initiatives. Recruitment of leading talent in areas that the CCCR will promote have led to a dramatic expansion of laboratory and clinical research ends of the spectrum, enable the Center's mission. Key to the Center's success is translating the latest scientific findings obtained from cutting-edge basic research into innovative clinical trials designed to dramatically improve the cure rates for pediatric cancers while simultaneously eliminating long-term side effects.
Dr. Jennifer Kalish is currently focusing on Beckwith-Wiedemann Syndrome (BWS), a rare genetic disorder characterized by overgrowth. The severity of this disorder varies widely in children and is usually recognized at birth.
To learn more about BWS, please click here.
Led by Athena F. Zuppa MD MSCE ,the Center for Clinical Pharmacology (CCP) provides a single, consolidated resource for investigators across the The Children’s Hospital of Philadelphia interested in pharmacologic endeavors. Established in 2014, the CCP offers investigators training in clinical pharmacology, bioanalytical support, and assistance with pharmacologic study design, implementation, and analysis.
Incorporating the Bioanalysis Core facility, the CCP specializes in developing and validating robust liquid chromatography/tandem mass spectrometry methods for the analysis of natural products, drugs, and metabolites in various biological samples. CCP staff and faculty aid researchers across Children’s Hospital with study design and implementation, qualitative analyses of specimens, as well as data management and interpretation. In addition, the Center is working to establish a novel training program in clinical pharmacology that would bridge pediatric and adult patients.
Injury Research and Prevention
The Center for Injury Research and Prevention (CIRP), advances the safety and health of children, adolescents, and young adults through comprehensive research resulting in practical tools to reduce injury and promote recovery. Led by Flaura K. Winston, MD, PhD, the center turns “research into action,” advancing the science and creating a tangible impact on injury research and prevention.
The center specifically works to address children’s injuries comprehensively – from before-the-injury prevention to after-the-injury healing; translate rigorous scientific research to usable, age-appropriate tools and practical steps for families, professionals, and policymakers; ask and answer important questions from an interdisciplinary perspective; and engage with a broad range of organizations from universities and government entities to nonprofit groups, foundations, and corporations, to ensure that research results extend to the real world. CIRP disseminates the results of its ground-breaking work through various channels, including its Research in Action blog.
Mitochondrial and Epigenomic Medicine
The Center of Mitochondrial and Epigenomic Medicine (CMEM) is poised to advance the understanding of, and potential treatments for, a multitude of disorders and diseases by focusing on mitochondria, tiny structures within our cells that produce 90 percent of the body's energy. Because nothing in the cell works without energy, scientists and physicians need to understand the flow of energy and the disturbance of the flow of energy during disease. Also essential is communication between the mitochondria and nuclear DNA, which enables the mitochondria to signal to the nucleus that there is enough energy to grow and reproduce. This crosstalk is mediated by the epigenome, inherited modifications in gene expression caused by tags or proteins that bind to DNA.
Led by Douglas C. Wallace, PhD, a pioneer and internationally prominent scientist in the field of human mitochondrial genetics, the center is investigating mitochondrial and epigenomic dysfunction in a wide range of clinical problems such as autism, epilepsy, heart disease, diabetes and obesity, forms of blindness, Alzheimer and Parkinson disease, cancer, and aging. In addition to examining the essential roles of mitochondria, the CMEM team is exploring how mitochondrial genes influence adaptation to extremes in our environment such as arctic cold, tropical heat, or high altitude. CMEM also focuses on preclinical studies relevant to developing therapies for mitochondrial dysfunction, for which few effective clinical treatments currently exist.
Pediatric Clinical Effectiveness
The mission of the Center for Pediatric Clinical Effectiveness is to discover and disseminate knowledge about best practices in the management of pediatric disease. Led by Theoklis Zaoutis, MD, MSCE, the center provides infrastructure for training in and performance of clinical effectiveness research — research aimed at understanding the best ways to prevent, diagnose and treat diseases in children.
The center builds on the existing research expertise and infrastructure at Children's Hospital to create an environment and opportunities for the exchange of ideas among clinical effectiveness researchers, facilitate the performance of clinical effectiveness research through a pilot grant program and assistance with projects that use existing national and local databases, and educate the next generation of clinical effectiveness researchers in the methods of clinical epidemiology. In addition, the center aims to partner with other Hospital organizations to improve the care of our patients and disseminate research findings that define the most effective healthcare for children.
PolicyLab aims to achieve optimal child health and well-being by informing program and policy changes through interdisciplinary research. It develops evidence-based solutions for the most challenging health-related issues affecting children and adolescents. PolicyLab’s experience caring for children and families drives its “evidence to action” approach to improving children’s health. This approach requires that PolicyLab projects involve practitioners, policymakers, and families throughout the research process, from design to dissemination. By partnering with stakeholders, PolicyLab engages in research that is both responsive to community needs and relevant to policy priorities and work to identify the programs, practices, and policies that support the best outcomes for children and their families.
David Rubin, MD, MSCE and Meredith Matone, DrPh, MHS, lead PolicyLab’s interdisciplinary team, which includes more than 25 research teams and a strtgy team made up of policy, communications, and business expertise. PolicyLab focuses its diverse array of subject areas into four cores: adolescent health and well-being; health care coverage, access, and quality; healthy equity; and intergenerational family services. PolicyLab’s personnel includes methodological experts in biostatistics, epidemiology, health services research, public health, program evaluation, population health, health policy, law, and ethics. The center is united by the goal of leveraging high-quality research to improve the health and development of children.