For the first five years of Meredith’s life, the only people who seemed to care about her puzzling constellation of symptoms were her family and friends. Doctors near her suburban Denver home didn’t quite know what to make of the combination of microcephaly (small head), developmental delays, hypotonia (low muscle tone), behavioral issues and seizures.
Then in November 2012, her family came to Children’s Hospital of Philadelphia. For the first time, her mother, Abby Clark, felt that clinicians were happy to see Meredith. “In Colorado, no one took a particular interest in her case,” says Clark. “At CHOP, she fit in.”
Genetic testing showed a gene mutation. Matthew A. Deardorff, MD, PhD, researches the genes involved in Cornelia de Lange syndrome, a genetic disorder that affects growth, appearance and intellectual ability, and related conditions. Deardorff could finally provide Meredith’s family with an answer: She had an ultrarare gene-related epileptic encephalopathy. After the diagnosis, Meredith remained active for the last three years of her life, until her death, likely from a seizure, at age 8.
Children’s Hospital is ushering in a new era of genetics for patients like Meredith and broadening the scope of genetic medicine across all clinical areas through the creation of the Roberts Collaborative for Genetics and Individualized Medicine. With a $25 million gift, the Roberts family is the principal external funder of this $50 million initiative.
In recognition of their generosity, the Roberts family will be honored on the Hospital’s new Schuylkill Avenue Campus, where the first new research building will be known as the Roberts Center for Pediatric Research. It will be home to scientists who have made important breakthroughs in the field — and it will give them the resources they need to make many more breakthroughs in the years to come.
“The Roberts family is honored to be able to contribute to CHOP’s efforts to create a world-class collaborative and clinical center for genetic and individualized medicine in pediatrics,” says Aileen Roberts, a former CHOP Board member. “We are gratified to be able to help children the world over and for generations to come.”
Core components of the Roberts Collaborative for Genetics and Individualized Medicine
- Genetic Diagnostics — through the efforts of the Division of Genomic Diagnostics.
- Clinical Support and Counseling — by the newly established Roberts Individualized Medical Genetics Center 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