Over the decade-long campaign For Tomorrow’s Breakthroughs, researchers at Children’s Hospital of Philadelphia (CHOP) made many extraordinary advances in the field of personalized medicine — and a $25 million gift from the Roberts family has made such an acceleration in discoveries possible.

The gift was part of the $50 million Roberts Collaborative for Genetics and Individualized Medicine, where clinicians and researchers from across CHOP are working together to better understand the benefits and risks of genetic testing — and using patients’ genetic information to tailor care for each child.

In recognition of the Roberts family’s generosity, the research building on CHOP’s Schuylkill Avenue Campus was named the Roberts Center for Pediatric Research. Opened in 2017, the Roberts Center serves as the hub for the Center for Autism Research, Center for Data Driven Discovery in Biomedicine, and the Department of Biomedical and Health Informatics, among others. It is home to investigators making game-changing discoveries for patients and broadening the scope of genetic medicine across all clinical areas at CHOP.

The breakthroughs have come in many forms. More than once, CHOP scientists have been the first to identify an extremely rare genetic syndrome, bringing comfort to parents who spent many years searching for the cause of their children’s symptoms.

For a child such as James, who had growth and weight issues the first two years of his life, the results of the genetic testing posed a challenge for his CHOP care team. James has two rare and unrelated genetic disorders. One is called Floating-Harbor syndrome, the symptoms of which include small size and delays in speech development. It is so rare that there are only about 50 known cases in the world. James also has a late-onset metabolic disorder called argininosuccinic acid lyase deficiency. If left untreated, it can lead to high levels of ammonia in the blood.

“It was an emotionally and mentally challenging day hearing the results of James’ tests,” James’ mother, Lauren, remembers.

James’ diet was significantly altered. His therapy regimen was also changed with the diagnosis of Floating-Harbor syndrome. It explained the delays in his speech and motor development and helped focus therapeutic efforts. Now James is a happy little boy. “He smiles all day long,” says Lauren. “We can tell that he just feels good now. You can see it in his running, playing and smiling.”

This is just one of the many stories of donor impact that happened during the campaign For Tomorrow’s Breakthroughs.