Research for Rare - Research for rare diseases

FACE – Network for Craniofacial Disorders

Craniofacial disorders represent a very heterogeneous and complex group of rare genetic diseases due to involvement of multiple developmental and other regulatory processes, genes, proteins, tissues, organ structures. Patients and their families are spread all across Germany and only few experts in the field are available in this country. Low efficiency in exact diagnosis, clinical management, treatment, follow-up and scientific knowledge is the consequence. For our consortium we take advantage of the developing rare disease expertise in Germany by including the first three universities with established rare disease care structures (Freiburg, Tuebingen, Berlin) together with the two German partners (Cologne, Essen) of the multidisciplinary European approach CRANIRARE. In the context of these structures new technologies e.g. next generation sequencing as well as IT platform solutions to connect disease experts are now available. Our main focus will be on the study of craniofacial ciliopathies, first and second branchial arch disorders, syndromic and unclassifiable forms of craniosynostosis, isolated as well as syndromic Pierre Robin sequence. Our goals will be to study craniofacial disorders to identify aberrant gene regulatory mechanisms relevant for classification of new disease entities and new therapeutic approaches. Furthermore, we will pursue joint analysis of in vitro and in vivo disease models to translate the results into improved patient care. The consortium will be the basis for patient related data collection, harmonization of clinical and molecular diagnosis, genetic counselling, and therapeutic strategies including novel operative procedures as well as cooperation with patient organizations.

Prof. Dr. Bernhard Zabel
Albert-Ludwigs-Universität Freiburg
Zentrum für Kinderheilkunde und Jugendmedizin
Klinik I: Sektion Pädiatrische Genetik
Mathildenstr. 1
79106 Freiburg
Telefon: 07 61 / 2 70 – 43 630

Weiterführende Informationen

Artikel des Verbundes FACE in: Verbundforschung für seltene Erkrankungen. Gemeinsam zu Diagnose und Therapie

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