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Research at IMBB identifies a new disorder

Jan 28, 2013

Craniosynistosis is a bone condition that can inhibit brain growth in children and affects 1 in 2200 births. Work published in the premier scientific journal Nature Genetics, identifies ERF haploinsufficiency as the genetic cause of a syndromic form of craniosynostosis, the ERF-associated craniosynostosis.

The ERF genes was originally discovered and studied for the past 15 years by Medical School professor and IMBB researcher, George Mavrothalassitis and his team. ERF is a ubiquitous expressed repressor that serves as an immediate sensor and regulator of the RTK-signaling pathway. Human genetic and clinical studies at the University of Oxford, UK and animal and biochemical studies at the Institute of Molecular Biology and Biotechnology (IMBB) of FORTH, identified this previously unrecognized syndromic form of cranisynostosis. ERF-associated syndromic synostosis is characterized by craniofacial dysmorphism, Chiari malformation and language delay. Complications become apparent around the age of four or five and then quickly become more serious if not recognized and treated.

This new work illustrates how basic science can translate into the clinic, immediately providing new diagnostics for a group of patients and paving the way for possible non-invasive treatment. The extended knowledge on the gene function and regulation provides the opportunity to further understand not only the specific but also general  mechanisms leading to RTK-associated craniosynostosis. The development of an animal model for this disorder and the presence of at least one functional allele in affected individuals, suggest that development of non-invasive therapeutic approaches for RTK-associated synostosis, may be within reach.

The research effort to understand ERF function and regulation at IMBB is funded by European and National grants.

For more information contact:

Professor George Mavrothalassitis.

Tel: +30-2810-394537


Nature Genetics: