Navigation Links
Genomenon Releases Genomic Landscape for Ectodermal Dysplasias for Rare Disease Week
Date:2/26/2020

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 Landscape(TM) 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

About Genomenon

Genomenon is a genomic health IT company whose mission is to ensure that every rare disease patient is accurately diagnosed and properly treated. With over 7,000 rare diseases impacting more people combined than cancer and a $262 billion orphan drug market targeting rare diseases, Genomenon delivers the genomic tools and data needed to diagnose and treat the genetic drivers of each rare disease.

The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.

Mastermind Genomic Landscapes inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

Genomenon was named 2020 Global Company of the Year in Clinical Genomic Interpretation by Frost & Sullivan.

For more information, visit Genomenon.com

Read the full story at https://www.prweb.com/releases/genomenon_releases_genomic_landscape_for_ectodermal_dysplasias_for_rare_disease_week/prweb16938682.htm.


'/>"/>
Source: PRWeb
Copyright©2020 Vocus, Inc.
All rights reserved


Related medicine news :

1. Genomenon and Diploid Sign Partnership Agreement to Accelerate Rare Disease Diagnostics
2. LifeMap Sciences and Genomenon Partner to Integrate Mastermind Genomic Search Engine into GeneCards Suite and TGex
3. Genomenon Partners with BPAN Warriors to Find a Cure for Ultra-Rare Disease
4. Genomenon’s Mastermind to be Integrated into SOPHiA Platform and Alamut Suite
5. Fenway Health Releases Transgender Awareness Week 2013 Infographic
6. Pixel Film Studios Releases PRO16mm Vintage Film Effects for Final Cut Pro X
7. Forget Computers Releases Device Scout 3.0 for Robot Cloud — Manage All Apple Devices Smarter, Faster
8. Viewpoints Industry TV Releases November Air Dates for Champaign, Illinois and Surrounding Area
9. Searchen Releases Statement on Celebrity and Athletic Endorsement Study
10. Spiritual River Releases Restyled Ebook on Creative Recovery
11. National Patient Safety Foundation Releases Educational Module on Health IT
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/27/2020)... ... May 27, 2020 , ... The podiatrists and foot doctors of Advanced Foot ... Michigan , and Ann Arbor Michigan. Dr. Tomasz Biernacki states that “Podiatrists ... and at the hospital. We have been seeing patients in the hospital for the ...
(Date:5/26/2020)... (PRWEB) , ... May 26, 2020 , ... Today TRC ... , a free online tool that will help business owners and leaders assess whether ... and ramp up. This latest offering from TRC is intended to assist business leaders ...
(Date:5/21/2020)... ... ... In response to the Coronavirus pandemic, Industrial Magnetics, Inc.(IMI) has developed the ... without using their hands or fingertips. , The new Arm-Pull attaches to ... wrist or elbow when entering or exiting a room. , Perfect for public restrooms, ...
(Date:5/21/2020)... ... ... Friends of Lisa Campbell, announce that Lisa Campbell, candidate for the Georgia House ... (PPSEA). PPSEA educates and lobbies on behalf of women’s health and works to ... PPSEA educates and lobbies on behalf of women’s health and works to elect candidates ...
(Date:5/21/2020)... ... May 21, 2020 , ... A new report from ... over 90 companies involved in the point of care test industry. Given the ... testing, COVID-19 has made point-of-care more important than in the past, according to the ...
Breaking Medicine News(10 mins):
(Date:5/28/2020)... ... May 28, 2020 , ... Escalating healthcare costs and ... leader and innovator in essential vision testing products, to launch web-based vision testing/screening. ... Testing has been released and considering the circumstances, could not be more timely. ...
(Date:5/27/2020)... ... 27, 2020 , ... Focus Technology , a leading provider of next-generation ... once again sponsor the American Heart Association’s 2020 Boston Heart Walk, earning ... year the firm is sponsoring the AHA event. The sponsorship donation will be used ...
(Date:5/26/2020)... ... May 26, 2020 , ... ... has acquired Open CoVIDx, the laboratory division of the Open Medicine Institute based ... Laboratories is Dr. Konstance Knox, the Virologist who previously co-founded what is now ...
Breaking Medicine Technology: