After a five-year journey, a new test by the Roberts Individualized Medicine Genetics Center diagnosed Sadie’s rare genetic muscle condition.

To remove a cancerous tumor, Liam had a surgical procedure that removed only the middle portion of his leg and let him remain active.

Diagnosed with Leber congenital amaurosis as a baby, Hannah was on a path to going blind until gene therapy at Children’s Hospital restored her sight.

When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome. 

After four years of uncertainty, the Roberts Individualized Medical Genetics Center helped the Steigerwalt family find a diagnosis behind their daughter’s complex medical condition.

Frantic to save Paulina’s life, her family brought her to the Cancer Center at CHOP where an experimental trial of CAR T-cell therapy cured her cancer.

Genetic tests revealed that James had two rare, unrelated syndromes. His treatment plan was adjusted to address his unique needs, and he is now thriving.

Genetic testing at Children’s Hospital of Philadelphia found a mutation in Connor’s STAT3 gene, which led to a tailored treatment plan.

Genetics experts at Children’s Hospital of Philadelphia have helped Cortney and Ryan identify their daughter’s rare genetic mutation, leading to improved care.

Emily Whitehead was the first pediatric patient enrolled in an experimental immunotherapy for advanced acute lymphoblastic leukemia.