Stories about: bone marrow failure

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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Taking the toxicity out of stem cell transplants

Colombian twins Miranda and Olivia Agudelo (with their parents) were the first patients in a clinical trial aimed at making the bone marrow transplant process less toxic.

One thing that most people don’t realize about stem cell transplants (also called bone marrow or hematopoietic stem cell transplants) is that for patients, the transplant itself is probably the easiest part of the process. The grueling part is the preparation for a transplant, called conditioning.

There’s been a lot done at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC) and elsewhere to make conditioning less toxic. With a new clinical trial in a rare genetic syndrome called dyskeratosis congenita (DC), doctors at DF/CHCC are taking an even bolder step.

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