Rare Genomics Institute Announces the winners of the 2018 BeHeard (Helping Empower and Accelerate Research Discoveries) Rare Disease Science Challenge


June 11, 2018: The Rare Genomics Institute (RG) is delighted to announce the winners of the 2018 BeHEARD (Helping Empower and Accelerate Research Discoveries) Rare Disease Science Challenge, a global competition that offers rare disease researchers, who traditionally have difficulty attracting funding, grants of the latest life science innovations and technologies. This unique crowdsourced biotechnology competition allows companies to contribute their technology to make a difference for the rare disease community.

“This year the competition received submissions on 24 rare diseases, coming from universities and foundations located in seven different countries", said Danielle Fumagalli, BeHEARD Director. “Sixteen cutting-edge technology prizes were awarded to study a number of rare diseases globally.”

Rare diseases affect more than 300 million worldwide, yet less than five percent of the 7,000 known rare diseases have treatments available. The winning scientists from BeHEARD 2018 will use their awards to potentially yield key medical research insights on rare diseases and have profound impact on therapeutic developments for patients.

One prize example is a mouse model, sponsored by Taconic Biosciences, that was awarded to Dr. Marco Giovannini at UCLA. This technology grant will allow his lab to test therapy options for schwannomatosis, a rare disease that occurs in 1 in 40,000 people, characterized by the growth of multiple nervous system tumors that cause severe chronic pain. There are currently no effective treatments aside from surgical removal of the tumors, which can lead to nerve damage and is sometimes unfeasible. The Taconic mouse model will serve as a pre-clinical model to test the therapeutic safety and efficacy of non-invasive treatment options.

Other winners were awarded reagents from Addgene, vector constructions from Cyagen, and software from SnapGene. These technologies will be put to good use to make progress on therapies for rare diseases with no effective treatments, ranging from Bohring-Opitz syndrome (BOS), a genetic disease that causes severe developmental defects and early childhood fatality, to chondrodysplasias, a set of skeletal conditions that cause debilitating early onset joint disease.

Rare Genomics, in collaboration with the INADCure Foundation, continues to offer INAD Research Discovery Grants of up to $100,000 for research and development of treatments for INAD (Infantile Neuroaxonal Dystrophy). BeHEARD will also consider awards for research on similar diseases, such as Parkinson’s disease, that can lead to treatments that may also be applicable to INAD.

INAD is a storage disorder where accumulation of lipids in nerve endings causes progressive damage. The symptoms of INAD usually start to appear between the ages of 6 months and 2 years. A common pattern in young children is the steady loss of previously acquired skills, and mental and physical ability. Most children with INAD do not survive beyond the age of ten, and there are currently no effective treatments for the disease, although there has been some promising initial research.

“BeHEARD and INADcure hope that by offering the Discovery Grants, we may be able to increase research on INAD. INAD has good potential for treatments, but has had difficulty attracting research and funding due to the relatively low number of sufferers,” says Dr. Arvin Gouw, Rare Genomics Vice President for Research & Development.

A full list of 2018 BeHEARD winners can be found on the RG website: http://www.raregenomics.org/contest-updates

Jill Wood is the founder of Jonah's Just Begun, an organization created to find a cure for Sanfilippo Syndrome. Jill and her husband founded the organization in 2010 after their son, Jonah, was diagnosed with Sanfilippo Syndrome. The organization, Jonah's Just Begun, is the Winner of RGIs BeHEARD 2013 contest - Taconic Mouse Model.

For complete information on the INAD grant application please visit: http://www.raregenomics.org/beheard-competition/

More information on INADcure Foundation: http://inadcure.org/

About the Rare Genomics Institute: Rare Genomics is an international 501(c) 3 non-profit that makes cutting edge research technologies of genome sequencing, physicians and scientists around the world accessible to rare disease patients. Rare Genomics helps families source, design and fund personalized research projects for diseases not otherwise studied helping rare disease patients find hope for a cure. By providing an expert network and an online crowdfunding mechanism Rare Genomics works alongside patients and their families, providing them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease. For further information on Rare Genomics, please visit http://www.raregenomics.org.