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Press Release

Genomenon Releases Genomic Landscape for Ectodermal Dysplasias for Rare Disease Week

February 26, 2020 ANN ARBOR, MI

Genomenon Releases Genomic Landscape for Ectodermal Dysplasias for Rare Disease Week

National Foundation for Ectodermal Dysplasias (NFED) First Recipient of Vital Research Dataset

Genomenon®, home of the Mastermind® Genomic Search Engine, is celebrating Rare Disease Week 2020 by making the comprehensive genomic landscape of Ectodermal Dysplasias (ED) freely available to clinical and pharma researchers. The release of this data set will provide genetic insight for doctors and researchers searching for efficacious treatments for ED, a collection of more than 100 different disorders that affect the teeth, skin, sweat glands, hair, nails, and other ectodermal structures.

The National Foundation for Ectodermal Dysplasias (NFED), the worldwide expert on ectodermal dysplasias, is the only advocacy organization in the United States dedicated to those living with these disorders. They offer a range of educational resources and events to meet the changing needs of those affected by the different types of ectodermal dysplasias and provide support and community for families with ED.

Genomenon founder Dr. Mark Kiel was diagnosed with ectodermal dysplasia at age 13, which led to a connection with NFED and, ultimately, to his chosen career as an MD, PhD in molecular genetic pathology. Once Genomenon was able to produce data that could help NFED in their search for treatments and a cure, he reached out to offer assistance.

The Genomenon team produced a Mastermind Genomic LandscapeTM for the primary causative genes associated with ectodermal dysplasias, which included comprehensive evidence for 2,908 genetic mutations (variants), 112 unique clinical symptoms, annotated functional studies, and photos of the physical hallmarks of the ED disorders. They then presented the database to NFED.

“This genomic landscape of Ectodermal Dyplasias helps us understand the molecular drivers of ectodermal dysplasias. We can use the data to find correlations between genes, variants and the disease pathways, and find new discoveries that will lead to better treatments of the disease.” Said Mary Fete, executive director of NFED.

Expanding the body of knowledge on a disease requires access to all of the currently published medical and genetic literature on the disease. Unfortunately, finding this information can be like looking for a needle in a haystack. With the current publication rate at about 3 million articles a year, any rare disease makes up an extremely minute portion of this mass of literature. Mastermind’s Artificial Intelligence and Machine Learning processes find all of the available evidence and present it for researchers and clinicians, ensuring the best possible outcomes.

In 2019, Genomenon produced the Genomic Landscape for rare disease Beta-Propeller Protein-Associated Neurodegeneration (BPAN), making it available to researchers as the first in their rare disease efforts of this kind.

Read the BPAN Press Release

Learn more about NFED


Genomenon is a genomics intelligence company dedicated to improving the quality of life of genetic disease and cancer patients by making genomic information actionable. Blending the power of AI with the precision of genomic expertise, the company empowers pharmaceutical companies and the clinical diagnostic community with empirical genomic evidence and insights that both support the development of novel therapeutics and speed diagnostic assessments and treatment recommendations.

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