By Clinical Informatics News Staff

August 20, 2015 | Yesterday, the Rare Genomics (RG) Institute announced the winners of the 2015 BeHEARD (Helping Empower and Accelerate Research Discoveries) science challenge, a global competition that offers technology tools to rare disease researchers. Tools and technology were provided by Jackson Lab, Taconic Biosciences, Tute Genomics, Cypher Genomics, Maverix Biomics, Biovista, and more. The crowdsourced biotechnology contest allows many companies to gather together to make a difference for the rare disease community.

“This year alone, the competition received hundreds of outstanding quality submissions, coming from 99 universities and foundations located in 21 different countries", said Dr. Claudia OuYang, BeHEARD Co-Director. “Over $600,000 worth of cutting-edge technologies were awarded to study 31 rare diseases.”

Researchers focusing on rare diseases traditionally have difficulty attracting funding. Rare diseases affect more than 300 million worldwide, yet less than five percent of the 7,000 known rare diseases have treatments available. In light of the enormous diversity of research in the rare disease space, the BeHEARD challenge helps non-profits, academic researchers, rare disease advocacy groups, families of rare disease patients, and for-profit companies to collaborate in their collective mission to advance rare disease research.

Among this year’s winners is Dr. Carolyn Suzuki, a CRISPR mouse model, sponsored by Taconic Biosciences and Jackson Laboratory, will allow her to work on CODAS syndrome, a rare multi-system developmental disorder. Another winner, Dr. Michael Harris, a parent of a Vici syndrome patient, says: “We are thrilled to receive this generous award on behalf of our son and other patients suffering from Vici syndrome. Though it is a devastating neurodegenerative disorder, this award will hopefully lead to new therapies and a better future for Vici syndrome patients.”

Genome analysis platforms donated by Tute Genomics, Cypher Genomics, and Maverix Biomics were awarded to 13 research proposals to help identify disease genes and biomarkers in rare diseases. Drug repositioning services sponsored by Biovista were awarded to Dr. Steven Laffoon for the study of Acid Sphingomyelinase Deficiency, a rare and fatal neurodegenerative disorder.

“We want to congratulate the winners and thank everyone who participated: our sponsors, the reviewers, and all the applicants,” noted Dr. Arvin Gouw, BeHEARD Co-Director. “Their knowledge, resources and selfless support are crucial in our journey for fighting against rare diseases.”

Rare Genomics Institute uses crowdsourcing to tackle many of the challenges associated with rare disease research. The group is currently conducting a research study on crowdsourcing as a model for disease research funding.