Date Funded: 11/11

Dr. Adrianna Vlachos was awarded a grant for the project “A Strategic Approach to Gene Discovery in Diamond Blackfan Anemia”. Diamond Blackfan anemia (DBA) is the first known “ribosomopathy”. There are two objectives for this study. The first objective is to perform whole genome Single Nucleotide Polymorphism Array (SNP-Array) Genotyping on DBA patients who have not had mutations detected by sequencing. The second objective is to perform a pilot study of whole exome sequencing on DBA patients who have not had mutations detected by SNP-Array or the sequencing projects.

Date Funded: 8/11

Dr. Hanna Gazda was awarded a grant to continue her efforts for the project “New gene discoveries and biology of ribosomes in Diamond Blackfan Anemia.”. The aim of this study is (1) to perform comparative genomic hybridization to search for deletions and duplications in ribosomal protein genes that could not have been picked up by DNA sequencing; (2) to perform whole exome sequencing (“next generation” sequencing) to potentially identify non-ribosomal protein genes that may be mutated in DBA.

Date Funded: 8/11

Dr. Irma Dianzani was awarded a grant to for the project “Understanding the causes of remission in DBA patients”. The goal of this project is to understand the molecular basis of remission in DBA patients. Dr. Dianzani proposes to identify genes that, when mutated, lead to remission in DBA patients.

Date Funded: 7/11

Dr. Johan Flygare was awarded a grant to for the project “Identification of Genetic and Chemical Modifiers of Erythropoiesis in Diamond Blackfan Anemia”. The 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.