Date Funded 6/19:

The DBAF awarded a grant for $50,000 to Dr. Lionel Blanc, PhD, who is at the Feinstein Institute for Medical Research in New York City, with co-investigator Dr. Jeffrey Lipton. The project is entitled, “Beyond the erythron, skeletal defects in Diamond Blackfan anemia.” The overall goals of this research are (1) to understand the defects in bone development (poor linear growth, osteopenia, skeletal anomalies) as a consequence of RP haploinsufficiency (2) to acquire a fuller understanding of the etiology of osteogenic sarcoma in the context of DBA, and thus (3) to determine the role of ribosomal protein gene mutations in oncogenesis, using DBA as a model. These studies by two leaders in the field will advance our knowledge of the effects of ribosomal protein haploinsufficiency on bone development and also create a model system for studying carcinogenesis that promises to increase our understanding of how ribosomal protein insufficiency increases the risk for solid tumors.

Date Funded 3/19:

Kathleen Sakamoto M.D., Ph.D., a professor in the School of Medicine at Stanford University, received a grant for $62,409 with support from DBA Canada and Friends of DBA. The project is entitled “Targeting Nemo-like Kinase for the Treatment of Diamond Blackfan Anemia.” The goal of this research is to examine the signaling pathways regulating mTOR activity as a consequence of Nemo-like kinase (NLK) inhibition in models of Diamond Blackfan Anemia. If these results are confirmed, it would suggest that inhibition of this kinase could be an effective therapeutic intervention for treating the bone marrow failure associated with DBA.