Our Research on Cornelia de Lange Syndrome

At The Children's Hospital of Philadelphia, we have a large — and growing — database of genetic information from children and adults with Cornelia de Lange syndrome and related diagnoses. This database allows us to better understand the clinical issues associated with Cornelia de Lange Syndrome and related diagnoses. Our goal is to develop new and better ways to serve families with these disorders.

Our physicians and scientists are also conducting basic science studies in laboratories to better understand:

  • The molecular basis of these various diagnoses
  • How the molecular changes cause the physical and medical differences in affected individuals
  • What role the affected genes have on a child’s development

We hope to use the information gathered from these studies to improve medical treatment and developmental outcomes for families with Cornelia de Lange syndrome and related disorders.

How to participate

Families are invited to participate in various research studies at CHOP. Requirements for each study is different, but in many cases, you and your child will be asked to contribute blood samples.

Participation in these research studies is voluntary. If you choose not to participate, the level of care we provide to your child will not be affected.

With the help of families such as yours, we will continue to make great strides in research.

Reviewed on April 07, 2014