Family participation in research has been the driving force behind our 35 years of research success.

 

1981 – The National Foundation for Ectodermal Dysplasias (NFED) is founded. Board of Directors identified research as key.

1986 – Hypohidrotic ectodermal dysplasia (HED) families provided first blood samples to Dr. Jonathan Zonana, a researcher at the Oregon Health and Science University.

1987 – Dr. Zonana and colleagues mapped the x-linked LHED (XLHED) gene, the first step in identifying it.

1987 – The NFED established a Research Fund and began fundraising.

1988 – NFED families participate in a study by Virginia P. Sybert which documents peeling skin at birth as a diagnostic marker for HED.

1990 – 2003 First of 6 seed grants given to Dr. Zonana for “Gene Identification in XLHED.” NFED’s financial and family support for Dr. Zonana enabled him to receive funding from the NIH for 12 consecutive years.

1996 – Dr. Zonana and international team of researchers identified the gene for XLHED and provided a drug target for scientists.

2002 – $24,970 given to Dr. Margret Casal at the University of Pennsylvania for “Immune Function in Canine Ectodermal Dysplasia: A Model for a Human Homologue.”

2002 – The NFED sponsors the first Skin Erosion Workshop at Saint Louis University to investigate skin erosions associated with anykyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Families participated.

2003 – The NFED funds and provides access to families for study, “Psychoeducational Characteristics in Children with HED,” by Drs. Fete, Maxim and Skinner. Findings were published documenting that cognitive impairment is not a feature of HED as previously stated in the literature.

2004 – $20,400 given to Drs. Olivier Gaide at the University of Geneva. He and Dr. Pascal Schneider at the University of Lausanne successfully developed and used a recombinant protein called APO200 to replace the missing protein in tabby mice with XLHED.

2006 – The NFED sponsors the International Research Symposium on Ankyloblepaharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome with the Department of Dermatology at Texas Children’s Hospital/Baylor College of Medicine.  Twenty-three individuals with AEC participated in the symposium. The findings were published, documenting a treatment protocol for skin erosion and characterizing AEC syndrome.

2007 – Dr. Casal successfully used APO200 to treat canine ectodermal dysplasia. The treated canines had significant improvement in dentition and sweat ability.

2008 – The NFED co-sponsored International Conference on Ectodermal Dysplasia Classification with the Medical University of South Carolina (MUSC).  Clinicians and researchers from 23 countries convened to develop a consensus on a new classification of ectodermal dysplasias to lead to a better diagnostic approach and treatment for individuals affected by ectodermal dysplasias.

2008 – $25,000 given to Dr. Casal to study the use of EDA in canines with XLHED.

2009 – present  The NFED collaborates with Edimer Pharmaceuticals by providing supportive data and resources and granting access to patients for XLHED research.

2010 – The NFED launched the Ectodermal Dysplasias International Registry to capture XLHED data.

2010 – 2011  The NFED collaborates with Edimer to determine the number of sweat glands in skin and their ability to produce sweat. All participating males received genetic testing to build a real natural history of XLHED.

2011 – XLHED families help validate technologies and assessment endpoints for upcoming clinical studies of EDA replacement therapy. This was the largest study of affected siblings ever done with the goal of demonstrating consistent symptoms within families.

2012 – XLHED families provided information for Edimer study that helped develop a completely non‐invasive screening tool that could use a computer program to detect XLHED from a regular photograph of a face.

2013 – The NFED co-sponsors the first Goltz Research Conference with Baylor College of Medicine and Texas Children’s Hospital. Scientists shared the latest research. Clinicians collected data from 19 participants affected by Goltz syndrome to better understand how Goltz syndrome affects them. All findings were published in the American Journal of Medical Genetics.

2013 – 2015 Edimer dosed 10 newborn males with EDI200 in the Newborn XLHED Clinical Trial.

2015 – Individuals affected by Goltz syndrome participate in second Goltz Research Conference a study, “Growth Arrest in Focal Dermal Hypoplasia.” It was a collaborative effort from investigators at the University of Colorado Health School of Medicine, Baylor College of Medicine, the University of Missouri-Columbia School of Medicine, and the NFED, and is partially funded by the NFED.

2015 – Individuals affected by AEC syndrome and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome participate in a study with Dr. Maranke Koster at the University of Colorado to develop a treatment for skin erosions.

2016 – Dr. Holm Schneider successfully treats three babies in utero with the protein, EDI200. The babies are affected by XLHED.

 

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.

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