Resources for Researchers

The National Foundation for Ectodermal Dysplasias has been the leading catalyst for ectodermal dysplasias research for the last three decades. We host international research conferences, help coordinate on-going clinical trials, and support academic and industry researchers with a goal to better understand ectodermal dysplasias and develop new treatments. We invite you to learn about our impact and current research studies.

Explore Past & Current Research

Genetic Variant Database

One of the most significant challenges in treating individuals affected by ectodermal dysplasias is ensuring an accurate diagnosis through genetic testing. The accuracy of these diagnoses requires a comprehensive understanding of the genetic variants in genes that cause these syndromes.

A comprehensive understanding of the genetic variants that cause ectodermal dysplasias would also greatly benefit ectodermal dysplasia research—from finding patterns in disease mechanisms to informing pharmaceutical research programs.

Since published clinical information is disbursed across thousands of different articles across decades and in thousands of different periodicals, producing this comprehensive database is not possible using manual techniques. Working in collaboration with Genomenon, a genomic knowledge company, we have developed a database of genetic variants for the dozens of genes associated with various ectodermal dysplasia subtypes, including:

This comprehensive collection includes all the evidence from published medical literature and associated databases required to interpret the clinical significance of genetic variants associated with ectodermal dysplasias. You’ll also find that each of the individual genetic variants are already interpreted according to clinically accepted standards by genomic scientists and annotated for patient phenotypes and associated diseases.

In the future, it is our hope that this database will help clinicians better identify and diagnose ectodermal dysplasia patients based on genetic testing results.

Contact Us

If you are an academic researcher or scientist at a pharmaceutical organization and would like access to a comprehensive database of genetic variants associated with ectodermal dysplasia, feel free to reach out to get connected.

For more information about NFED’s research, email Becky, NFED Director, Research and Treatment Advocacy.

For access to or questions about the comprehensive ectodermal dysplasia genetic variant database, email Mark, Chief Science Officer of Genomenon.

Are you a healthcare provider? We offer additional resources to help you treat and care for individuals affected by ectodermal dysplasias.