The Rare Genomics Institute: Fostering Collaboration by Breaking Down Barriers

Jimmy Lin, MD PhD MHS, thinks of his digital health nonprofit startup, The Rare Genomics Institute, as an “Amazon-slash-Kickstarter for Science.”  Jimmy was inspired to start the RGI when he met a family whose young son had a rare disease.  The family was exhausting their resources going from doctor to doctor, failing to find anyone who could help their child; not one organization was conducting research on his particular disease.  Jimmy was aware of advanced genomic techniques from his background in cancer, and he was aware of the deplorable lack of progress in fighting rare disease.  As he and his friends – all veterans of top medical institutes – founded RGI, they wanted to figure out how to “leverage the technologies that have been so helpful in cancer, in order to help kids diagnosed with rare diseases.”

Jimmy knew that genomic sequencing could help in rare diseases, but one major barrier to sequencing is the high cost: $7 – 10 thousand.  Since paying such a price out-of-pocket is not feasible for most families, RGI incorporated an innovative crowdfunding platform.  Families create a profile to describe their child’s struggle and solicit donations from friends, families, and even strangers.  Once the funding goal is reached, RGI’s volunteer scientists conduct a full DNA sequence and identify genes with unusual changes that might be responsible for a patient’s symptoms.  The goal is to develop a diagnosis, conduct research on the mutations using living organisms such as worms, and ultimately deliver a tailor-made treatment to the patient.

RGI is a pioneer in the field of truly personalized, individualized medicine.  As Jimmy says, “rare disease is the perfect place to start out with personalized medicine. By definition, with rare disease, there are no large numbers, so it has to be personalized.”  RGI’s approach is also extremely patient-focused.  By putting patients in control of their own data, the pace of innovation can be increased, says Jimmy: “[patients] have the greatest stake, and they can say, ‘it’s my data; I’ll give it to anybody who wants it.”

This is just one way that the RGI benefits science as a whole – not just individual families.  Ultimately, the organization serves to create a landscape of increased connectedness among all rare disease stakeholders, most of whom were previously acting alone.  Patients get unprecedented access to cutting-edge tools that used to be the preserve of the wealthy.  The scientific community is introduced to questions that are so rare they might never have otherwise been asked.  Jimmy hopes that the RGI’s collaborative network can help overcome the siloing that has slowed research in rare diseases and in medicine generally.  He has ambitious plans for the organization’s future: “In a year I would like to be able to officially launch our platform’s ultimate goal: to help anybody with any disease do any research.”

Personally, I’m hopeful that such a model could also break down barriers and speed up progress in the siloed world of autoimmune disease.  Are you?

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