Rare diseases, defined as affecting fewer than 200,000 Americans at a given time, affect 250 million people worldwide. These diseases are often undiagnosed or misdiagnosed, information on how to manage the disease and its symptoms is not known, and treatment is unavailable. In fact, 30% of individuals with rare diseases die before the age of 5. Affected individuals and their families struggle to understand and manage their disease symptoms, which are often severe, chronic and progressive. The medical, psychological, social and financial burden on families is tremendous. Yet, because of the rarity of their diseases, scientific and philanthropic organizations do not have the funds or resources to help them. With the recent congressional cuts on scientific research spending, this is only likely to worsen.
However, the union of powerful scientific technology and the internet is bringing hope for families affected by these 6000-8000 rare diseases. As about 80% of rare diseases are due to defects in genes, sequencing an affected individual’s whole genome can lead to the discovery of a cause, which can in turn help in the development of targeted therapy. Indeed, Genome sequencing is getting cheaper by the day and quickly approaching the $1,000 mark. Additionally, with internet-based social media, patient and disease advocacy groups are forming, giving affected individuals a voice and raising awareness. Moreover, the internet is also creating a new and effective way for organizations to raise money for rare disease research: crowdfunding.
Crowdfunding allows internet users to donate money to projects directly and allows people who need funds for very specific funding goals to solicit a large user base. Traditionally crowd funded projects have included artwork, independent films, startup companies and disaster relief. Now, Rare Genomics Institute (RGI), a non-profit organization founded by TED fellow Jimmy Lin has brought crowd funding to science. RGI recently raised 142% of the funds necessary to sequence the genome of a little girl with an unknown genetic disease in just 6 hours.
Four-year-old Maya Nieders hasn’t been able to speak aside from a few short words for most of her life. Her doctors could not diagnose her mysterious disease but suspected genetics. Conventional genetic testing—which only examines genes already known to cause diseases—offered no help. Without a diagnosis, Maya’s doctors could not effectively treat the disease. Maya needed sequencing: analysis of her entire genome to the digital level. However, Maya’s parents could not afford sequencing nor could research labs muster the requisite grant or philanthropy dollars. Through crowd funding, RGI raised funds to sequence Maya’s genome and unearthed a disease-causing mutation in a gene responsible for fetal development. Although discovering the mutation is only the first step in characterizing this new disease, with the mutation in hand, researchers can now replicate the mutation in model organisms to better study it. Down the road, this research supported by crowd funding could lead to the development of a cure for Maya’s disease.
RGI’s mutation discovery represents a proof of concept for crowdfunded scientific research. Perhaps crowdfunding may become an effective alternative to federal grants and philanthropic institutions that lack resources to focus on rare diseases. Or perhaps RGI’s model will democratize science—allowing the public and researchers to lay the path of research endeavors together.