The power of highly innovative, cutting-edge research in genetics can transform patients’ futures. A key part of advancing this important work is the creation of the new $50 million Roberts Collaborative for Genetics and Individualized Medicine at Children’s Hospital of Philadelphia.
Chief Scientific Officer and Director of the Research Institute, Bryan Wolf, MD, PhD, hosted a special scientific symposium along with CEO of CHOP Madeline Bell Sept. 23 at the Research Institute to announce how this new approach, made possible by a remarkable $25 million gift by the Roberts family, will broaden the scope of genetic medicine across the institution and position it at the forefront of pediatrics genetics research. The Roberts family is committed to bolstering local non-profits focused on improving the quality of life for all Philadelphians, including social services, education, and the arts community.
Eight CHOP scientists spoke at the symposium about their strategies and commitment to individualized medicine. They are finding the genetic basis of complex childhood diseases, creating tools to diagnose those diseases, testing new therapies, and identifying patients who have diseases with unknown etiology and could possibly benefit from uncovering the secrets of their genetic code.
Another superstar speaker was Lainey Moseley, a mother who shared her gratitude for the time, energy, and resources that CHOP clinicians and researchers have devoted to her family. The Moseley’s spent 16 years searching for a diagnosis for their medically fragile daughter, Leta. CHOP medical geneticist Ian Krantz, MD, and his genetics team “didn’t give up on Leta,” and used a breakthrough in sophisticated gene-sequencing technology to identify the genetic basis for her unique constellation of symptoms. In a Nature Genetics article published in 2015, they named the condition CHOPS Syndrome.
“My family has traveled a medically and emotionally challenging road of raising our daughter all these years without a diagnosis,” Lainey Moseley told the audience. “But today, because of the availability of advanced genetic testing, so many families’ lives will be dramatically different than ours.”
Indeed, the discovery that ended the Moseley’s medical odyssey has begun a new journey. So far, 10 children with CHOPS Syndrome have been identified across the world. Clinicians are able to better navigate the clinical issues related to CHOPS Syndrome. Genetic counselors can more effectively help families understand the recurrence risk for themselves and family members. And it is a starting point to work toward precisely tailored therapeutics.
The Roberts Collaborative for Genetics and Individualized Medicine will allow CHOP researchers to continue their relentless pursuit of genetics medicine for more families with other rare, complex diseases. The multidisciplinary collaborations will focus on these core components:
- Genetic Diagnostics: through the efforts of the division of Genomic Diagnostics
- Clinical Support and Counseling: by the newly established Roberts Individualized Medical Genetics Center (Roberts IMGC) at CHOP’s Buerger Center for Advanced Pediatric Care, located on the Raymond G. Perelman Campus
- Education: for patients, families and clinicians on genetic diagnostics
- Training: of residents and medical students about individualized pediatric care
- Informatics: developing innovative solutions to healthcare informatics needs through CHOP’s department of Biomedical and Health Informatics
- Therapeutics: identifying targeted therapeutic options based on an individual’s genetic information
- Research and Development: the creation of a data repository that will help fuel discovery of rare and complex traits, transforming them into novel diagnostic and therapeutic solutions. The Raymond G. Perelman Center for Cellular and Molecular Therapeutics will help to facilitate the rapid translation of pre-clinical discoveries into clinical application.
Already, CHOP researchers are making genetic breakthroughs in the fields of inherited disorders, mitochondrial disease, cancer, and autism. In the future, they will aim to expand genomic sequencing capabilities to all newborns, with the hope of one day preventing the onset of pediatric diseases.
“Genomics is revolutionizing what we do in medicine,” said Dr. Krantz, who also is co-director of the Roberts IMGC. “We’re beginning to understand the significance of changes in the genome and leverage it to drive counseling and management of patients and to develop new and targeted therapeutics. We now have a truly individualized approach to medicine.”
See the CHOP press release.