Current Research

Maranke Koster
Maranke Koster, Ph.D.

Developing Methods for Generating Full-Thickness, Healthy Replacement Skin for AEC Patients

Maranke Koster, Ph.D. has been one of the leading researchers in AEC syndrome for more than a decade. The NFED funded her current work with Peter J. Koch, Ph.D. In 2015, NFED families provided skin biopsies for this project. Read progress update.

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Past Research Conferences

2002 Skin Erosion and Wound Healing in Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC)

AEC Conference 2003Collaborator: NFED, Saint Louis University School of Medicine


    • Increased understanding of AEC syndrome
  • Identified successful treatments

2006 International Research Symposium for Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome

Families participated in an AEC Conference in 2006.Collaborators: NFED, Texas Children’s Hospital/Baylor College of Medicine


    • Better characterized the changes that can occur in the skin, hair, and nails of those with AEC syndrome
    • Described the findings that occur in the hair and skin when viewed under the microscope, which can help with improved diagnosis
    • Increased understanding of how this disorder can affect the eyes, ears, hearing, teeth, limbs, growth, and psychologic functioning, which will hopefully lead to improved medical care
    • Improved understanding of how p63 functions in development
  • Identified eleven new mutations in the p63 gene in the study participants, but all were in the expected area of the gene

Published all results in several articles in the American Journal of Medical Genetics