Pharma & drug development

Being heard

Researchers working in rare diseases can struggle to access funding, a situation the Rare Genomics Institute aims to address. Abi Millar finds out how its annual BeHEARD challenge is helping research projects get underway. 

In October 2017, the Rare Genomics Institute announced the launch of the 2018 BeHEARD (Helping Empower and Accelerate Research Discoveries) science challenge. This competition, which has been hosted annually since 2012, aims to advance rare disease research via cash and technology grants.

While there are 7,000 known rare diseases, affecting more than 300 million people worldwide, fewer than 5% have treatments. This comes down largely to a lack of clinical studies, with researchers typically struggling to attract the requisite funding. (A disease is classed as rare when it affects fewer than 200,000 Americans, or fewer than 1 in 2,000 Europeans.)

As Danielle Fumagalli, director of the BeHEARD initiative, explains, access to financing and other resources remains a serious challenge in this field.

“The US government (National Institutes of Health) has to allocate a lot more funding to diseases that affect more people, such as cancer,” she says. “Outside of the government, it is also challenging to find foundations who are able to fund research for rare diseases.”

With its unique crowdfunding mechanism, BeHEARD gives winners the chance to get their research proposals off the ground. The competition is open to academics, patient advocacy groups, foundations, and anyone else whose research is constrained by limited resources.

The power of sequencing

 An international non-profit, the Rare Genomics Institute (RG) was set up to help patients with rare diseases. It connects patients’ families with a network of experts, allowing them to pursue personalised research opportunities.

Since most rare diseases are genetic in nature, properly diagnosing (and ultimately treating) these conditions begins with genome sequencing. Although sequencing costs have plummeted in recent years (from over $95 million in 2001 to under $5,000 in 2014), it can still represent a significant financial burden to families, many of whom are already under strain. RG aims to redress the situation via an individualised crowdfunding platform.

“We believe that genome sequencing has the power to help these patients in a way that conventional diagnostics cannot,” says Fumagalli. “We act as a hub to help families raise funds and connect them to scientists who can help them.”

BeHEARD, then, is just one of the ways RG makes a difference. Participating companies can donate technologies (e.g. mouse models, genome analysis software and cell lines), which competition entrants then apply for.

“We started by reaching out to our closest contacts in various companies who share the same concerns for rare disease research,” says Fumagalli. “These core companies help us not only in contributing product prizes but also in promoting the event to their contacts, which created the base community that since then is still expanding.”

 Successes so far

The way the competition works is simple. After selecting a technology grant, or grants, applicants submit their research proposals. These are passed on to a judging panel, which includes a representative of the company that supplied the technology, along with scientific experts and RG staff.

Proposals are judged based on innovation, impact, feasibility, and fit with the desired product prize.

“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 the expert panel,” says Fumagalli.

Since the competition began, RG has raised over $2 million in technology and cash grants, including $750,000 worth of technology last year alone. The 2016-2017 competition saw hundreds of submissions, with the prizes awarded to research projects across 23 rare diseases.

One of the previous winners was Jill Wood, whose son, Jonah, suffers from Sanfilippo syndrome. This is a lysosomal storage disease characterised by degeneration of the central nervous system, with no effective treatment or cure.

“Jill and her husband founded Jonah’s Just Begun, an organization created to find a cure for Sanfilippo syndrome Subtype D,” says Fumagalli. “She 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.”

Another winner was Dr Roser Urreizti of the University of Barcelona, who was awarded genetic sequencing services for her work on Opitz C Syndrome. She has already used the technology to identify the disease-causing mutation, and is now working on the search for therapies.

The latest competition

This year, BeHEARD is offering over $500,000 worth of grants, including its largest chunk of funding yet – $100,000 in Discovery Grants in conjunction with the INADcure Foundation.

These will be awarded to research projects focusing on Infantile Neuroaxonal Dystrophy (INAD), a lipid storage disorder that causes lipids to accumulate in nerve endings. Sufferers start to display symptoms in infancy, with few living past their 10th birthday.

“INADcure reached out to RG about the current research status on INAD, and after we followed up with them with the idea of promoting INAD-BeHEARD, the rest was history,” says Fumagalli. “We hope the $100K can make a significant difference in finding a cure for INAD, because now not only have we provided funding for INAD research, we have effectively raised awareness and gathered the INAD community for this grant challenge.”

She hopes that in subsequent competitions, RG might see further collaborations with other rare disease foundations, with a view to hosting disease-specific grant challenges. More broadly, she feels that RG’s business model might be more widely emulated in future.

“We have learned that with an emphasis on individual stories, crowdfunding may be a more effective method of raising money for rare disease research than traditional funding from organisations such as the NIH,” she says. “We propose that crowdfunding will be a major way for other organisations to raise funds for rare disease research.”

This article appears in the February 2018 edition of Pharma Technology Focus

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