Current Research
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.
Research is at a Critical Point
Preliminary results show the potential to alleviate two symptoms of the most common ectodermal dysplasia. But we need your help to fund this project and others.
Contribute to Groundbreaking ResearchPast Research Conferences
2002 Skin Erosion and Wound Healing in Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC)
Collaborator: NFED, Saint Louis University School of Medicine
Outcomes
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- Increased understanding of AEC syndrome
- Identified successful treatments
2006 International Research Symposium for Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome
Collaborators: NFED, Texas Children’s Hospital/Baylor College of Medicine
Outcomes
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- Better characterized the changes that can occur in the skin, hair, and nails of those with AEC syndrome
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- Described the findings that occur in the hair and skin when viewed under the microscope, which can help with improved diagnosis
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- 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
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- 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