Participants asked the following questions on a webinar that the NFED hosted in August regarding Edimer Pharmaceuticals’ Adults with XLHED Study. Edimer provided the answers. To read more of the Q and A and listen to the webinar, go to our website under research news.
The results are in! The NFED sponsored a survey to further characterize female-specific issues and their possible connection to ectodermal dysplasias.
We have collected skin biopsies from five individuals with Goltz syndrome and are awaiting an additional four biopsies. After several weeks of growing these skin biopsies in a dish in the laboratory we obtained several million cells, some of which we have frozen for long-term storage.
In 2013, we will sponsor a research conference dedicated to Goltz syndrome in conjunction with Baylor College of Medicine & Texas Children's Hospital.
AEC syndrome is caused by mutations in the p63 gene, encoding for a protein that plays an essential role in early development. The p63 protein is a transcription factor, which means that it attaches (binds) to DNA and controls the activity of several genes involved in development of several ectodermal structures, such as the skin, hair, teeth, nails, and also the palate epithelium. The p63 gene mutations responsible for AEC syndrome interfere with the ability of p63 to turn target genes on and off at the right times.
Ankyloblepharon ectodermal dysplasia and clefting (AEC) syndrome is an ectodermal dysplasia characterized by skin fragility, often causing the skin to erode. Currently, there is no cure for skin erosions in AEC patients. Our goal is to develop a novel approach for treating skin erosions in AEC patients.
The NFED and Edimer Pharmaceuticals hosted a webinar this fall to explain the Adult Safety Trials
Read this published study completed with the help of our NFED families. This study would not have been possible with out the response from these families and their willingness to share information. This study focuses on allergies and eczema as they relate to ectodermal dysplasias.
Connecting Lives
Download and read this progress report celebrating the NFED's 30 years of ectodermal dysplasias research success.
Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)
Click here to read about the latest developments in research for Goltz Syndrome. Focal dermal hypoplasia (FDH) or Goltz syndrome is an X-linked dominant developmental disorder with a variable presentation of streaks of hypoplastic skin with typical fat nodules in the dermis, limb deformities, eye abnormalities, dental defects, brittle hair, dystrophic nails and osteopathia striata (linear bone density abnormalities).
