The Center for Cornelia de Lange Syndrome and Related Diagnoses

Our Research

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 gain a more in-depth understanding of the clinical issues associated with various diagnoses so as to better serve these populations medically.

There are also many ongoing basic science studies being performed in laboratories to understand the molecular basis of these various diagnoses and how these changes cause the differences seen in the affected individuals.

The goal of this research is to better understand what role these genes play in development, with the hope of using this information to improve medical treatment and developmental outcomes for your family members.

How you can participate

Families are invited to voluntarily participate in the various research studies. This may require that you and your child contribute a blood sample. Participation in these research studies is voluntary and, if you choose not to participate, the level of care we provide to your child will not be affected.

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

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