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This study uses whole genome sequencing (WGS) to help researchers identify inherited genetic causes of craniofacial disorders. WGS is a relatively new type of test that searches through genetic material for DNA changes that can cause disease. Researchers will compare WGS information obtained from blood samples of family members who have a congenital craniofacial disorder to family members who do not have a congenital craniofacial disorder.
Children who have been diagnosed with a congenital craniofacial disorder that can be inherited, along with their family members, are invited to take part in the study.
Males and Females: All ages
A one-time blood sample will be collected along with medical record information for participants.
Duration: Not applicable
Plastic Surgery Research
James R. Gilbert, PhD
Joseph E. Losee, MD, FACS, FAAP
For more information about the study or enrollment, please contact:
Research Specialist Jennifer Fantuzzo, BS
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.