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Evolution and Development

Developmental Mechanisms of Human Craniofacial Abnormality

Study of Hemifacial Microsomia (HFM) Interruption of normal embryologic growth and differentiation of the face and skull results in a wide variety of craniofacial abnormalities. Hemifacial microsomia (HFM) is one of the most common structural birth defects (up to 1:4,500 births) often associated with developmental disabilities related to breathing, eating, hearing and speech. We are studying the potential mechanisms of cranial skeletal development, such as miRNAs, signaling molecules and transduction factors, as they apply to a transgenic mouse HFM model and human patients to aid development of diagnosis and treatment methods for the HFM spectrum conditions. This biomedical project is collaboration with craniofacial surgeons Dr. Bonnie Padwa (Children’s Hospital Boston) and Dr. Leonard Kaban (Massachusetts General Hospital). We plan to use tissue samples obtained from the HFM patients and compare their cellular and molecular properties, including skeletogenic abilities, with control cells and tissues.