Research on rare disorders, or in new fields, often follows a particular trajectory. It tends to start out fragmented, carried out by one or two isolated researchers at a few institutions.
But as researchers find each other, identify more patients and start to collaborate systematically, patterns of disease biology emerge, researchers start speaking the same language and new treatments materialize.
The field of complex vascular anomalies—a set of conditions characterized by blood vessels that have not developed normally—is in this kind of early days. In large part this is because they are relatively rare. In addition, few centers worldwide have the multidisciplinary experience to provide comprehensive care to these rare patients.
But a new coalition forming around vascular anomaly research and care could help unravel the biology of vascular anomalies and fashion better treatments for these children by bringing to bear the resources and knowledge of specialists from across the continent. …
To really understand rare conditions, you need a lot of data from a lot of patients. But no one hospital or center usually sees more than a few patients with any given rare disease, precisely because they’re rare.
This is where case registries become important. These research collaborations, which usually span several institutions, typically focus on a single rare disease or a few related conditions, serving as a data warehouse for collecting information from as many patients and as many places as possible.