Maranke Koster, Ph.D. has been one of the leading researchers in ankyloblepharon-ectodermal dyspdefects-cleft lip and/or palate (AEC) syndrome for more than a decade. The NFED funded her current work with Peter J. Koch, Ph.D.
After working with the NFED community, Dr. Koster became aware that skin fragility is not unique to individuals affected by AEC, as had been commonly assumed. The high number of individuals affected by ectrodactyly-ectodermal dysplasia-clefting (EEC) reporting a history of skin erosions led her team to initiate a research project aimed at gaining a detailed understanding of the molecular underpinnings of skin fragility in AEC and EEC patients. NFED families with both syndromes provided skin biopsies for this project. Dr. Koster anticipates that understanding the similarities and differences between skin lesions in patients affected by AEC or EEC will directly impact future treatment designs.
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