CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Rare diseases affect one in ten children. Discovering the genetic variants that cause rare disease are essential to delivering better diagnoses, improved treatments, and preventive medicine. The most accurate and cost-effective method of achieving this goal is to sequence the genomes of affected children, as well as their first-degree relatives.

We recently began working with a family of four children, two of whom have been diagnosed with a rare form of muscle atrophy. Both siblings have chronic weakness of the heart and liver. The oldest required a heart transplant at a very young age and remains in a chronic condition. The youngest is now experiencing similar heart and liver problems.

In order to identify the genetic cause of this disorder, we sequenced the genomes of both children and their parents, as well as an unrelated patient with similar symptoms. All patients had a rare mutation in a gene expressed in the liver and heart, which is thought to play a role in regulating the body’s immune system.

Our translational research team has since identified a novel drug that may specifically affect the function of this gene, and we hope to begin treatment in the near future. We also aim to launch a parallel project to study the physiological effects of this drug in model systems, such as cell cultures.

Ultimately, we hope that these projects will lead to the effective management of this chronic disease and that our patients can begin to lead normal lives.

We have now initiated a major fund-raising initiative to help treat thousands of children with similar disorders. Recent developments in technology and analytical software allow us to manage rare disease with ambitions scarcely conceivable a decade ago.

We aim to sequence up to 20,000 rare disease samples in the coming years, and to propose treatments for hundreds of rare disorders.

To learn more about CAG’s rare disease program, please contact This email address is being protected from spambots. You need JavaScript enabled to view it..