Mastermind Genomic Search Engine Produces Database of Mutations Related to Genetic Disease BPAN
ANN ARBOR, MICH. (PRWEB) SEPTEMBER 17, 2019
Genomenon today announced a partnership with rare disease advocacy group BPAN Warriors, with the goal of providing resources to assist researchers and encourage pharmaceutical companies to invest in finding efficacious treatments for Beta-Propeller Protein-Associated Neurodegeneration (BPAN), a progressive disease causing abnormal iron deposits in the brain.
BPAN Warriors is an international community of advocates who have loved ones directly affected by BPAN. Their goal is to facilitate access to scientific research and community resources, and to support families dealing with the ultra-rare disease. The Genomenon team became aware of the organization when founder Sarah Chisholm signed up for the Mastermind Genomic Search Engine, which provides access and insight into scientific research.
As a result of the connection with Chisholm, Genomenon used Mastermind to produce a curated database of the research related to 94 unique variants (genetic mutations) found within the gene linked to BPAN (WDR45). The annotated “genomic landscape” provides a comprehensive overview of all existing research related to the disease.
As part of the partnership, Genomenon will make the comprehensive genomic landscape for BPAN freely available to any pharmaceutical company or researcher interested in using the data. The availability of this data will not only help researchers better understand the disease, but will provide a solid foundation for pharmaceutical companies to begin the search for a cure with a resource that would otherwise take years to assemble. Genomenon has also donated Mastermind Professional Edition licenses to the BPAN Warriors team.
“It is our hope that providing the BPAN Warriors with this vital information on the genetic markers related to BPAN will spur more research and drug development to find a cure for this devastating disease.” said Mike Klein, CEO of Genomenon. “By starting with a comprehensive genomic landscape curated from the published research, scientists can stand on the shoulders of their predecessors to understand the molecular drivers of a disease and accelerate their own research.”
“We are so grateful to Genomenon, and couldn’t be more excited to bring this valuable resource to our scientific, industry, and academic partners. BPAN Warriors understands the importance of having the most up to date genomic data readily available, and recognizes the role that the Mastermind search engine can play in advancing the knowledge base for BPAN,” said Sarah Chisholm, founder and executive director of BPAN Warriors. “Now our research partners will have access to latest research publications at their fingertips. We are hopeful that this data can accelerate treatment discoveries.”
Genomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.
Our flagship product, 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.
We license our Mastermind Curated Genomic Datasets to pharmaceutical and bio-pharma companies to inform precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.
For more information, visit http://www.genomenon.com.
About BPAN Warriors
BPAN Warriors is a U.S. based 501(c)(3) nonprofit organization dedicated to accelerating a cure for BPAN. Our mission is to actively support, facilitate and expedite therapeutic initiatives and scientific research that will enhance the quality of life for individuals living with BPAN. We forge collaborations in the scientific, biotech, medical and academic arenas and work to bridge the gap between scientific discoveries and meaningful progress toward treatments and a cure for BPAN.
BPAN Warriors also mobilizes and empowers families worldwide, through access to community resources, information and most importantly, connection.
For more information, visit http://www.BPANWarriors.org.
BPAN Warriors recognizes the role that the Mastermind search engine can play in advancing the knowledge base for BPAN.