Research registry reveals new mutations in rare childhood blood disorders
May 28, 2013
This story originally appeared on the Boston Children's Hospital Blog 'Vector.'
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.
One such registry based out of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center—the Pediatric Myelodysplastic Syndromes (MDS) and Bone Marrow Failure (BMF) Registry—has recently starThis story originally appeared on the ted to bear fruit, finding that a unique set of mutations in a single gene may play a larger-than-realized role in a group of rare blood diseases.
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