Stories about: myelodysplastic syndrome

Research registry reveals new mutations in rare childhood blood disorders

A research registry helped Inga Hofmann, MD, PhD, search the genomes of several patients with a rare blood disorder and reveal new mutations behind it. (Michael David Pedersen/Flickr)

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 started 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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