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Craniofacial Malformations Research Group

Craniofacial Malformations Research Group

The research in our lab aims to identify the underlying, causative molecular and cellular mechanisms of common craniofacial birth defects, with a particular interest in cleft palate and craniosynostosis. We work on the pathogenesis of human mutation using genetic mouse models, in particular those affecting genes in the FGF signalling pathway with a role in bone development and homeostasis. Our main aim is to unravel the molecular events that underlie craniofacial birth defects at the cellular level in order to develop new therapies. Ultimately the hope is that a better understanding of the pathogenesis of these congenital anomalies will translate to improved diagnosis, prognosis and treatment.

coronal_suture_histopath.png
 
 
 
Histological section (H&E) through a normal mouse cranium showing the frontal bone (F) and parietal bone (P) separated by a patent coronal suture.

 

Research Projects

Pathogenesis of FGF-related syndromic craniosynostosis 

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Many syndromic forms of craniosynostosis are caused by mutations in genes part of the FGF signalling pathway. In our lab we focus on the FGF receptors and study the effects of mutation of FGFR2 one of the receptor genes. Previous work has shown that FGFR2 is involved in the early pattering of the coronal suture as well as the osteogenesis of neural crest derived calvarial bones.

cs_alp-runx2.png
Side view of E15.5 mouse embryos stained with (from left to right) Alizarin Red/Alcian Blue, alkaline phosphatase (ALP) and Runx2. Mutants (HOM) show loss of suture patency. (from Peskett et al. 2017)                     

 

Calvarial loading as a treatment for craniosynostosis

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This study aims to investigate how external loading of the calvarial bones can delay or prevent the onset and/or progression of craniosynostosis. In addition to the potential translation of this study into clinical treatment we are interested in the cellular and molecular events downstream of calvarial bone mechanotransduction to further understand the underlying mechanism. 
uct mouse skull
3D microCT image of a mouse skull at embryonic day 15.5 showing craniofacial bones

 

Pathogenesis of FGF-related cleft palate

This project -in collaboration with Prof Stanier- explores the relationship between FGF signalling and the embryonic development of the palate. The role of TBX22 -one of the many cleft genes- is also part of this investigation.

NHS
Collaborations
Dr. Mehran MoazenUCL Mechanical Engineering
Prof. Phil StanierUCL Great Ormond Street Institute of Child Health
Prof. David Dunaway and Dr. Alessandro BorghiCraniofacial Unit, Great Ormond Street
Prof. Andrew Wilkie and Dr. Steve TwiggWeatherall Institute, Oxford
Prof. Irene MathijssenErasmus University, Rotterdam, Netherlands
Dr. Karen LiuCraniofacial Department, King's College London
Dr. Maarten KoudstaalKarolinkska Institute, Stockholm, Sweden

 

Lab Members

Estephania Candelo Gomez

MSc student

Milton Chin

MSc student

Dawn Savery

Research Assistant

Kevin Lee            

PhD student

Erwin Pauws

Lecturer/Principal Investigator

Alumni

 

Emma Peskett

Research Associate

Ivy Richardson

Research Assistant

Samintharaj Kumar         

PhD student

Anna Smak-Gregoor                      

MSc student

Michael Hoffman

MSc student

Nouf Ghaith

MSc student

Liliya Adeeva

MSc student

William Baird    

MRes student

Stelia Pissaridou

MSc student

Milad Golsharifi

MSc student

Annette Whittington

MSc student

Janhvi Jaiswal

MSc student

Catherine Webb

MRes student

Renan de Menezes        

MRes student

Priyanca Patel

BSc student

Ming Li

MRes student

Sachin Thakrar

MSc student

Jaewon Shin      

BSc student

Nihara De Silva

BSc student

Elena Georgidou

MSc student

John Whittingham

MRes student

Maria Iribarren-Guevara

MSc student

Rosanne Aielo

MSc student

Sherine Pranata

BSc student

Charlotte Quinn

MSc student

Somaya Taha

MSc student

Publications
Teaching

Module lead for UCL under- and postgraduate teaching:

  • "Molecular Biology of Normal Development and Birth Defects"

  • "Genomics, Health and Society"

  • "Birth Defects: Basic Research and Clinical Applications"

Lecturing at under- and postgraduate level:

  • BSc Biomedical Sciences, UCL

  • BSc Population Health, UCL

  • MBBS, UCL

  • MSc Paediatrics and Child Health, UCL

  • MSc Cell and Gene Therapy, UCL

  • MSc Reproductive and Developmental Biology, Imperial College

Research student supervision at PhD level, together with supervision of laboratory and library projects for MSc, MRes and BSc students at UCL and beyond.