2018 AANS Annual Scientific Meeting-767. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

767. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

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Video Summary

Dr. Charita Furey, a medical student at Yale, presents their research on understanding the genetics of craniosynostosis, a condition characterized by premature fusion of cranial sutures. They studied a cohort of 966 individuals and identified novel de novo mutations and transmitted mutations in signaling pathways related to bone formation, specifically the RAS-ERK, BMP, and Wnt signaling pathways. These findings provide insight into the pathophysiology of sporadic nonsyndromic craniosynostosis and may help with targeted treatments and genetic counseling. The research was made possible with the support of Andrew Timberlake, Christopher Colley, Drs. Murat Ganel and Michael DeLuna, and Dr. Richard Lifton, as well as the participation of affected families.

Asset Caption

Charuta G. Furey

Keywords

Dr. Charita Furey

genetics

craniosynostosis

de novo mutations

signaling pathways