Before bidding adieu to the year past and benvenuto to the year ahead, I thought I would use this end-of-year article to mention what I have perceived as five trends in the DBA-related sciences in 2014.

 1) Increased globalization - Last spring many clinical and basic science researchers met in Atlanta for the 13th Diamond Blackfan International Consensus Conference.  This conference has been a forum for clinicians and researchers (predominantly, but not exclusively) from the US, Canada, and Europe to get together to discuss their latest findings and build collaborations that have led to significant advances in the DBA field over the years.  The DBA community increased its global reach with the EuroDBA conference held in Freiburg, Germany in September where representatives from 26 countries (including many countries from the Middle and Far East) came together to share challenges and successes in dealing with DBA in different cultures.  It is clear from these meetings that there is much to learn from one another and that by pooling resources as the DBA global community continues to grow, further advances can be made to improve the lives of individuals affected by DBA.

 2) Focus on iron - While iron overload has always been a major cause of morbidity and mortality in DBA and other transfusion dependent patients, the past couple of years have marked a watershed in terms of the number of studies that have been published comparing and contrasting iron overload in DBA relative to other transfusion dependent patient populations. Considerable evidence is mounting that DBA patients load iron in ways that are distinct from, and more deadly, than other patient populations receiving similar transfusion burdens. This increased awareness has led to calls for more forceful efforts to strengthen patient compliance with chelation therapy. Further, as more and more is learned about the molecular basis for the differences in iron loading in DBA patients, more effective disease-specific strategies may be devised to address this critical problem.

 3) From gene to genome - From 1999 when the first DBA gene was identified to 2014 when several additional genes were added to the still growing list of DBA genes, we've gone from sequencing individual genes to sequencing the expressed regions for virtually all genes in the human genome (termed whole exome) in DBA patients.  This approach has led to the discovery of additional ribosomal protein genes affected in DBA and to the first non-ribosomal protein gene, GATA1 (published in 2012).