By Maranke Koster, Ph.D. The long-term goal of our research is to design novel therapies for the treatment of skin and cornea lesions that occur in ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) and ectrodactyly-ectodermal-dysplasia-clefting (EEC) patients. In the past, many of you have donated skin biopsies to support this research. These skin biopsies were used…
Learn about the Brown family’s journey when their daughter, Erin, was diagnosed with Ankyloblepharon-Ectodermal Defects-Clefting (AEC) syndrome. They also talk about how their NFED family has been a tremendous help over the last 5 years.
By Maranke I. Koster, Ph.D. and Peter J. Koch, Ph.D., University of Colorado School of Medicine Since our last research update, we have been hard at work to understand the basis for skin and eye abnormalities that occur in patients affected by ankyloblepharon-ectodermal defects-clefting (AEC) syndrome and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. These two ectodermal dysplasias are caused…
Amelia is a teenager who is affected by ankyloblepharon-ectodermal dysplasia-cleft lip and/or palate (AEC) syndrome. When she was born, she had toes that were connected and a few other signs that were different. She started turning blue at two hours and lived in the NICU for months. She was suffering from chonal atresia. Maggie, her mom,…
After running the Hot Chocolate 5K in 2013, and thoroughly enjoying myself, I set a goal for myself to run at least three 5K’s and a 15K before the end of 2014. It had been years since I last ran competitively, but I’ve learned a thing or two about smashing limits in my lifetime. As…
You Have the Opportunity to Share Your Eye Concerns With Researcher By Jack Kriz I am so excited! I mean really, really, excited! Dr. Colin E. Willoughby will attend this year’s National Family Conference! Who is this doctor? Well, early this year, NFED staffer Mary Fete, shared with me some info about a researcher from Belfast…
Trying to understand all the names for all the types of ectodermal dysplasia can feel confusing. This blog breaks it down in a simple way. Learn why your syndrome may have different names, why genetic testing matters, and how knowing your gene or pathway could help with research, treatment options, and better care in the future.
We know there’s a chance that you have never met another person affected by ectodermal dysplasias. We have created a support network of Family Liaisons to provide moral support, information and practical advice, guidance, education, resource information and increase awareness and events for individuals and families. We encourage you to reach out to the Family…