Brief Synopsis of Current DBAR Research Priorities

 1. Gene Discovery
The DBAR is collaborating with Drs. Hanna Gazda and Colin Sieff from the Dana-Farber Cancer Institute in trying to identify the second DBA gene. The Registry is particularly interested in all multiplex DBA families (those with more than one affected individual) who are willing to participate in this study.

2. Congenital Anomalies and DBA
In collaboration with Dr. Karen W. Gripp, a clinical geneticist specializing in craniofacial abnormalities at the AI Dupont Hospital for Children, DE, the DBAR is currently investigating the association between Diamond Blackfan anemia and cleft palate . Preliminary studies have shown that there is a higher incidence of cleft palate among DBA patients than is found in the general population (6.7% vs 0.5%). We hypothesize that DBA patients with abnormalities of the face, head and palate may represent a genetically distinct subgroup of DBA patients. In order to optimally study this association, we are inviting any DBA patient with a cleft palate to contact the DBAR for participation in this study.

3. Cancer Predisposition and DBA
The DBAR is interested in accurately assessing the risk of cancer in DBA patients. Any history of cancer in a family affected with DBA should be reported to the Registry.

For those families wishing more information or are interested in participating in any of these studies should contact the DBAR Clinical Research Coordinator, Eva Atsidaftos, M.A. at 888-884-DBAR