1. Stem Cell Research to Produce Skin for Individuals Born Without
Twenty-Five Affected Individuals Assisting in Rare Disorder Study
Who: The National Foundation for Ectodermal Dysplasias
What: NFED Research Conference
When: July 22, 2015
Where: Anschutz Medical Campus at the University of Colorado – 13001 E. 17th Pl.,
Aurora, CO 80045 (UCH Dermatology Clinic, Gates Biomanufacturing Facility, Ectodermal Dysplasia
Research Laboratories)
Why: An opportunity for researchers to gather information on two specific types of rare ectodermal
dysplasias, Goltz and p63, to further their efforts in finding treatment and a cure.
PHOTO OPPORTUNITIES
 Skin Biopsies will be obtained inside the UCH Dermatology Clinic within the Anschutz Medical
Campus at the University of Colorado; Wednesday, July 22, 8 a.m. – 12 p.m.
Adults
 Adult will be given a tour of the Gates Biomanufacturing Facility within the Anschutz Medical
Campus at the University of Colorado; Wednesday, July 22, 1:30 p.m. – 2:30 p.m.
 Adults will be given a tour of the Ectodermal Dysplasias research laboratories within the Anschutz
Medical Campus at the University of Colorado (Research Complex 1 North (RC1-N), 8th floor);
Wednesday, July 22, 3 p.m. – 4 p.m.
Children
 Children will be given a tour of the Ectodermal Dysplasias research laboratories within the Anschutz
Medical Campus at the University of Colorado (Research Complex 1 North (RC1-N), 8th floor);
Wednesday, July 22, 1:30 p.m. – 2:30 p.m.
 Children will participate in hands on science activities.
 Goltz Research will be taking place next door.
PEOPLE WHO CAN BE INTERVIEWED (Who do I contact for this information?)
 DeAnn Huxman, mother of two affected sons, Grant, 6, and Tyler, 14, resident of Moundridge,
Kansas.
 Stephanie Hsu, M.D., Ph.D., Assistant Professor in Endocrinology at the University of Colorado
School of Medicine.
 Mary Fete, M.S.N., R.N., Executive Director of NFED.
 Timothy J. Fete, M.D., M.P.H., Pediatrician, Children’s Miracle Network Distinguished Professor
and Chairman in the Department of Child Health, University of Missouri Health Care and member of
the NFED Scientific Advisory Council.
 Kathleen Motil, M.D., PH.D., Research Scientist, USDA/ARS Children’s Nutrition Research Center
and Associate Professor of Pediatrics, Baylor College of Medicine.
 Dr. Maranke Koster, Ph.D., University of Colorado School of Medicine, Anschutz Medical Campus
(Denver, CO) Families from 3 countries (Brazil, Canada, US) and 33 states will be participating in a
research conference at the Anschutz Medical Campus, University of Colorado on Wednesday, July 22nd. For
individuals suffering from an absence of skin due to an abnormal p63 gene, skin biopsies will be
conducted. The other research group, affected by Goltz syndrome, will undergo a series of growth testing,
including the measuring, recording, and analyzing of specific body dimensions.
Deann Huxman of Moundridge, Kansas, and her family travel from their home in Kansas to wherever
the Family Conference is every year. She and her husband, Chris, have four boys, two of whom are

2. affected by a type of ectodermal dysplasia called ectrodactyly-ectodermal dysplasia-clefting (EEC)
syndrome. Tyler, 14, and Grant, 8, have missing fingers and toes, cleft lip and palate, nonfunctioning tear
ducts, missing teeth, the inability to sweat and other issues.
"The NFED is our second family. Our boys have made great friends here who they meet every summer at
Conference," Huxman said. "This year, we also get to participate in an NFED research project on EEC
syndrome at the University of Colorado in Denver on Wednesday. We have already seen progress made
in various areas regarding ectodermal dysplasias and we understand the best way to make further
advances is through research. We are willing to do whatever we can to help advances be made. It was not
a difficult decision at all to participate."
Mary Fete, the NFED executive director explains, “Our role at NFED is to be a catalyst for research. By
coordinating the Research Conference and Family Conference, we are able to bring families and
researchers together. To assist with expenses, the NFED is paying for dinner and lodging of immediate
family members of participants. The families and researchers benefit greatly from our efforts.”
Of the 180+ types of ectodermal dysplasias, two will be analyzed at the research conference. (Name of
Doctors) are investigating Growth Arrest in Focal Dermal Hypoplasia. Individuals affected by Focal Dermal
Hypoplasia possess small, underdeveloped, or absent abnormalities in the skin, skeleton, eyes, and face.
Commonly known as Goltz syndrome, the researchers at the conference will investigate the nutritional,
gastrointestinal, and hormonal aspects that may cause short stature and (using?) underweight. They seek
to determine if growth hormone deficiency contributes to the growth problems associated with Goltz
syndrome. Experts from the University of Colorado Health School of Medicine, Baylor College of Medicine,
and the University of Missouri-Columbia School of Medicine will be conducting research.
Dr. Maranke Koster of University of Colorado School of Medicine is researching p63 related ectodermal
dysplasias. The p63 gene plays a key role in the development and maintenance of the skin. Using Induced
Pluripotent Stem Cells (iPSC), she will seek to create human skin models. Her goal is to gain a better
understanding of the disease mechanisms and to develop new therapeutic strategies aimed at treating
skin, and potentially skin appendage (for example, hair), abnormalities.
Other Event Held in Conjunction with the Research Conference:
Family Conference
Cheyenne Mountain Resort
July 23, 24, and 25, 2015
Time? Should I put each day separately?
Through educational sessions, affected individuals and their families will learn more about ectodermal
dysplasias overall as well as about their specific syndrome. In between the educational workshops,
activities have been planned to provide attending families with a chance to bond.
About the Ectodermal Dysplasias
The ectodermal dysplasias are genetic conditions that involve defects in the hair, teeth, nails and sweat
glands. Other parts of the body also may be affected. There are more than 180 different ectodermal
dysplasias which are recognized by the combination of physical features an affected person has and the
way they are inherited. Symptoms can range from mild to severe. Only in rare cases does ectodermal
dysplasia affect lifespan and very few types involve learning difficulties. The ectodermal dysplasias affect
men, women and children of all races and ethnic groups. According to the Birth Defects Encyclopedia as
few as one or as many as 7 in 10,000 babies are born affected by an ectodermal dysplasia.

3. About the National Foundation for Ectodermal Dysplasias (NFED)
The NFED is the leading resource in the world serving the ectodermal dysplasias community. The mission
of the NFED is to empower and connect people touched by ectodermal dysplasias through education,
support and research. Located in Fairview Heights, Ill., the Foundation is in contact with more than 6,900
families in more than 85 countries. Seventy-five cents of every dollar raised is spent on education, support
and research. The NFED is a private, tax-exempt, not-for-profit organization pursuant to section 501(c)(3)
of the Internal Revenue Code.
Press Contact
Jodi Edgar Reinhardt
Director of Marketing and Communications
National Foundation for Ectodermal Dysplasias
Office - 618-566-2020
Cell - 618-806-3384
Direct - 628-566-6875
Jodi@nfed.org www.nfed.org
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