Personalized Genomic Research

Background:

• Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations.

Objectives:

• To understand more about what causes congenital malformations that arise in early human development.
• To learn if genetic causes can be found to explain why a person has a congenital malformation.

Eligibility:

• Individuals who have been diagnosed with a congenital malformation.

Design:

• Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history.
• Parents or siblings of participants may also be asked to provide information for research purposes.
• Participants may have additional medical evaluations as part of this study, including any of the following tests:
• Physical examinations
• Other consultations as clinically indicated
• Blood samples for genetic testing
• Tissue biopsy for genetic testing
• Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet.
• Other tests as indicated by a specific malformation, such as organ ultrasounds.
• No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent....