We are pleased to announce the funding of Dr. Johan Flygare’s project titled: Identification of Genetic and Chemical Modifiers of Erythropoiesis in Diamond Blackfan Anemia.

This project is significant for many reasons. The Diamond Blackfan Anemia Foundation is grateful to Diamond Blackfan Anemia Canada (DBAC) for their generous support in helping to fund Dr. Flygare’s work.  DBAC received charitable status only three months ago and has graciously offered to fund $10,000 of this $50,000 project. This first collaboration between DBAF and DBAC is certain to be just the beginning of many joint ventures.  We are proud to partner with DBAC and look forward to supporting each others’ efforts.  Way to go American and Canadian families and friends for joining forces to fund DBA research in Sweden!

Dr. Flygare’s project goal is to develop better treatments for DBA by identifying chemical compounds and molecular pathways that promote proliferation of RPS19-deficient erythroid progenitor cells.

This project has two parts: In the first part, Dr. Flygare will identify genes that when down-regulated allow RPS19-deficient erythroid progenitors to proliferate at normal levels. The findings of this study will increase understanding of DBA pathogenesis and generate a list of genes and pathways that potentially can be targeted to treat DBA.

In the second part, Dr. Flygare will use erythroid progenitors from a new and exciting Dox-inducible mouse model to screen for compounds that can rescue the RPS19-related erythroid defect. The chemical screens will lead to identification of compounds that rescue proliferation of RPS19-deficient erythroid progenitors. Such compounds will be lead compounds for development of new drugs for DBA. By studying the mechanism by which these compounds influence the proliferation of RPS19-deficienct erythroid progenitors, more will be learned about DBA pathogenesis.

The DBAF and DBAC are pleased and proud to be able to fund Dr. Flygare. This talented young investigator is well known to the DBA community, and has been supported by the DBAF throughout his career.  Dr. Flygare stated, “During my ten years of scientific training I have focused on DBA-related research. This has been an excellent preparation for becoming an independent researcher with the long-term goal to develop novel treatments for DBA.”  Dr. Flygare has completed postdoctoral fellowships in Dr. Stefan Karlsson’s lab in Lund University, Sweden and in Dr. Harvey Lodish’s lab at The Whitehead Institute for Biomedical Research, Boston, MA.  Dr. Flygare has recently established his own lab in Sweden and has earned the support and respect of many distinguished DBA researchers. We are grateful to Dr. Flygare for his continued interest in Diamond Blackfan Anemia and we wish him and his colleagues continued success.

The DBAF is also proud to fund Dr. Irma Dianzani’s project entitled: Understanding the causes of remission in DBA patients.

Dr. Irma Dianzani

Dr. Dianzani, Professor, University of Eastern Piedmont, Novara, Italy was awarded an initial $30,000 to begin her important research, with the intent of funding an additional $30,000 based on the progress of her findings and the availability of funds.

The goal of this project is to understand the molecular basis of remission in DBA patients. While remission occurs in approximately 20% of patients, the causes are unknown. Dr. Dianzani proposes to identify genes that, when mutated, lead to remission in DBA patients. The identification of genetic and molecular alterations resulting in disease remission is anticipated to reveal novel genetic and/or molecular pathways that may be therapeutically targeted in DBA treatment. Buona fortuna Dr. Dianzani and team!

Last Summer at Camp Sunshine, the Diamond Blackfan Anemia Foundation presented Hanna Gazda, MD, Ph.D a check for $51,512 towards her project entitled: New gene discoveries and biology of ribosomes in Diamond Blackfan Anemia.

Dr. Hanna Gazda

The DBAF is  proud to once again support her continuing efforts on this important project and has awarded Dr. Gazda, Instructor in Pediatrics, Harvard University, Children’s Hospital Boston, $41,028 to continue her efforts in identifying genes mutated in DBA patients. Dr. Gazda has played a major role in the identification of several of the known DBA genes.  Further, her discoveries have clearly established DBA as a ribosomopathy which has helped direct research efforts on many aspects of the disorder. We are grateful to Dr. Gazda for her commitment to Diamond Blackfan Anemia and wish her and her colleagues continued success!