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Helping Rare Disease Reseach BeHEARD

Helping Rare Disease Reseach BeHEARD content piece image
Credit: Rare Genomics Institute
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Earlier this summer, the Rare Genomics Institute announced the winners of the 2018 BeHEARD (Help Empower & Accelerate Research Discoveries) Challenge. The Challenge tasks researchers or foundations working in fields of rare disease research to apply for grants, either financial or technological (providing model systems, equipment etc.) to assist their research. In the 2018 competition, 14 winners received grants from industry including mouse models for studying the rare disease schwannomatosis from Taconic Biosciences, software provided by Snapgene and plasmids provided by Addgene. 

We caught up with Arvin M. Gouw, Ph.D, SPARK & Cancer Nanotechnology Fellow, Department of Oncology at Stanford University School of Medicine, who is also the Rare Genomics Institute’s BeHEARD division, to discuss the awards and the battle against rare disease. 

Ruairi Mackenzie (RM): What is the background of the BeHEARD awards and why are they important?

Arvin M Gouw (AG): Given the current funding situation of the National Institutes of Health, getting funding for rare disease research is extremely difficult. In light of the enormous potential for research in the rare diseases and the scarcity of research funding, we started the BeHEARD competition as a case study of a novel successful crowdfunding approach. We partner with biotechnology companies willing to donate their products, such as mouse models, gene editing software, and sequencing services, for which researchers can apply.


RM: What were Rare Genomics looking for when selecting between the submissions for the awards?

AG: Our organization partners with biotechnology companies, primarily those in the rare disease field, that are willing to provide in-kind donations of their products, such as mouse models, gene editing software, and sequencing. Through BeHEARD, we offer these products as free technology grants to researchers studying underfunded rare diseases. Foundations and academic institutions apply for specific technologies, filling out a grant application that explains how the technologies would be used to further research on a specific rare disease. Applications for each technology are evaluated by a panel composed of a representative of the company that supplied the given technology and scientific experts in the rare disease field. Each winner of a specific technology is then entered into a grand prize competition for a cash research grant, the winner of which is determined by a combination of social media voting and the opinions of expert panel. 


RM: What are some of the most exciting projects that RG has funded in this year’s BeHEARD awards?

AG: Sanfilippo syndrome has benefitted the most from crowdfunding models of fundraising. Sanfilippo syndrome is a lysosomal storage disease, caused when lysosomes have problems breaking down unwanted materials and instead store them inside the cells. This causes apoptosis, including degeneration of the central nervous system. There is no cure or effective treatment, and children die after losing the ability to walk, talk, and eat.

Jill Wood was one of BeHEARD’s science challenge winners last year. Jill and her husband founded Jonah’s Just Begun, an organization created to find a cure for Sanfilippo syndrome Subtype D after their son, Jonah, was diagnosed with the rare disease. Jill Wood won a knockout mouse for Sanfilippo Subtype D from Taconic, which provided the groundwork for Jonah’s Just Begun’s scientists to better understand the disease and propose research for future treatments. As a result, the foundation won a National Institutes of Health (NIH) grant for $223,102 for the first pre-clinical research for a treatment for Sanfilippo Subtype D.

RM: When rare diseases affect 300 million people worldwide, it’s alarming how few of them have treatments available. How can companies and funding bodies be motivated to provide the investment needed to tackle these diseases?

AG: Here are three reasons why companies and funding bodies should be  motivated to join our efforts:

1. Donating free products as opposed to cash is a simpler and more cost-effective way for companies to support researchers. In general, it is easier for company representatives to get approval to donate products than money.

2. By providing a technology, companies gain exposure for their products with their target market, as potential applicants browse the technologies. If companies were to provide a cash grant instead, potential applicants might not bother to see what the company’s products were.

3. Winners of a technology who find the product useful and have a good experience with the company may become long-term customers.

Last but not least, for research programs that successfully discover a therapy or cure for a rare disease, they could be eligible for orphan drug status.

 Arvin M. Gouw was speaking to Ruairi J Mackenzie, Science Writer for Technology Networks