Rare-X Wants to Build the Data Infrastructure for Rare Disease Research

<p>For people with common health problems like diabetes or high blood pressure or high cholesterol, progress in pharmaceuticals has worked wonders and extended lifespans enormously. But there’s another category of people who tend to get overlooked by the drug industry: patients with rare genetic disorders that affect only one in a thousand or one in two thousand people. If you add up all the different rare genetic disorders known to medicine, it’s a very <i>large</i> number; Harry's guest this week, Charlene Son Rigby, says there may be as many as 10,000 separate genetic disorders affecting as many as 30 million people in the United States and 350 million people worldwide. That's a lot of people who are being underserved by the medical establishment.</p><p>Rigby is the head of a new non-profit organization called Rare-X that’s trying to tackle a systematic problem that affects everyone with a rare disease: Data. In the rare disease world, Rigby says, data collection is so inconsistent that each effort to understand and treat a specific disease feels like reinventing the wheel. For longtime listeners of the show, that’s a familiar story. Time and again, Harry has talked with people who point out the harms of storing patient data in separate formats in separate silos, and who have new ideas for ways to break down the walls between these silos. Rare-X is trying to do exactly that for the rare disease world, by building what Rigby calls a federated, cloud-based, cross-disorder data sharing platform. The basic idea is to take the burden of data management off of rare disease patients and their families and create a single central repository that can help accelerate drug development.</p><p>Harry talked with Rigby about the challenges involved in that work, how it gets funded, how soon it might start to benefit patients, and what it might mean in a near-future world where every child’s genome is screened at birth for potential mutations that could lead to the discovery of rare medical disorders.</p><p><strong>Please rat