Our Research
Our research centers on elucidating the pathogenesis of pediatric human malformation disorders and genetic birth defects, including:
- Craniosynostosis
- Cleft lip and palate
- Mandibular dysgenesis
- Limb dysplasias
- Neural tube defects
- Crouzon syndrome
- Apert syndrome
- Treacher Collins syndrome
- Goldenhar syndrome
- Moebius syndrome
- Pierre-Robin complex
- Roberts syndrome
- Bear-Stevenson syndrome
- Oculodentodigital dysplasia
- & other phenotypes related to craniofacial and limb disorders!
To dissect these phenotypes we apply a combination of genetic, genomic, cellular and molecular biology approaches, genetic engineering, next generation sequencing, bioinformatics, systems biology, and clinical tools.
We are also involved in GWASs being conducted on non-syndromic congenital anomalies for isolated craniosynostosis and cleft lip with or without cleft palate.
Our projects have a direct clinical impact for patients with malformation disorders and for the support and management they may require.
