Presentation
Dr, MD PhD HDR
Anne MORICE-AERTGEERTS
Génétique des anomalies du développement
About
I am maxillofacial surgeon and researcher in the team "Genetics of developmental disorders".
My clinical practice concerns the management of craniomaxillofacial diseases including congenital craniofacial malformations.
My research projects aim to better understand the physiopathological mechanisms involved in rare craniofacial disorders, including FGFR-related osteochondrodysplasia, and the impact of these mutations during craniofacial bone repair.
My clinical practice concerns the management of craniomaxillofacial diseases including congenital craniofacial malformations.
My research projects aim to better understand the physiopathological mechanisms involved in rare craniofacial disorders, including FGFR-related osteochondrodysplasia, and the impact of these mutations during craniofacial bone repair.
Scientific project
Rare craniofacial malformations present a therapeutic challenge, particularly the complex forms such as syndromic craniosynostosis and chondrodysplasia.
Currently, there are no alternative treatments for these patients, who require extensive and repeated craniofacial surgeries during their growth period, especially in severe cases.
At the molecular level, advances in medical genetics are enabling the identification of new mutations associated with these conditions. Identifying these genetic factors is essential for understanding the underlying pathophysiological mechanisms and ultimately improving patient care.
To better understand these pathophysiological mechanisms—and with the constant aim of improving clinical practices and the management of patients with complex craniofacial malformations—our team has conducted and is currently pursuing several research projects that combine clinical and biological approaches.
The first aspect of our research focuses on studying the impact of mutations in Fibroblast Growth Factor Receptor (FGFR) genes—which are responsible for syndromic craniosynostosis and chondrodysplasia—on bone formation and craniofacial growth, using animal models that mimic these conditions. Our team is also conducting preclinical studies in animal models to analyze the effects of therapeutic molecules aimed at delaying premature cranial suture fusion in cases of syndromic craniosynostosis.
The second aspect of our research focuses on studying the impact of mutations responsible for syndromic craniosynostosis and chondrodysplasia on the process of bone repair. We are investigating bone repair and remodeling using both a cohort of patients treated in our department—analyzing postoperative scans obtained after craniofacial bone surgery—and mouse models of syndromic craniosynostosis (involving FGFR mutations) alongside controls. We are also conducting preclinical studies using these same mutant and control mouse models to identify therapeutic molecules aimed at improving bone repair. Ultimately, the findings from these research projects will provide a better understanding of the pathophysiological mechanisms underlying syndromic craniosynostosis and open up new therapeutic avenues for these patients.
Currently, there are no alternative treatments for these patients, who require extensive and repeated craniofacial surgeries during their growth period, especially in severe cases.
At the molecular level, advances in medical genetics are enabling the identification of new mutations associated with these conditions. Identifying these genetic factors is essential for understanding the underlying pathophysiological mechanisms and ultimately improving patient care.
To better understand these pathophysiological mechanisms—and with the constant aim of improving clinical practices and the management of patients with complex craniofacial malformations—our team has conducted and is currently pursuing several research projects that combine clinical and biological approaches.
The first aspect of our research focuses on studying the impact of mutations in Fibroblast Growth Factor Receptor (FGFR) genes—which are responsible for syndromic craniosynostosis and chondrodysplasia—on bone formation and craniofacial growth, using animal models that mimic these conditions. Our team is also conducting preclinical studies in animal models to analyze the effects of therapeutic molecules aimed at delaying premature cranial suture fusion in cases of syndromic craniosynostosis.
The second aspect of our research focuses on studying the impact of mutations responsible for syndromic craniosynostosis and chondrodysplasia on the process of bone repair. We are investigating bone repair and remodeling using both a cohort of patients treated in our department—analyzing postoperative scans obtained after craniofacial bone surgery—and mouse models of syndromic craniosynostosis (involving FGFR mutations) alongside controls. We are also conducting preclinical studies using these same mutant and control mouse models to identify therapeutic molecules aimed at improving bone repair. Ultimately, the findings from these research projects will provide a better understanding of the pathophysiological mechanisms underlying syndromic craniosynostosis and open up new therapeutic avenues for these patients.
Financements
