Date Funded: 12/17

The DBAF and DBA Canada proudly increased DBA awareness among attendees at the 59th American Society of Hematology (ASH) Annual Meeting and Exposition held in Atlanta. The event was attended by over 20,000 worldwide hematologists, researchers and other health-related professionals. Visitors to the DBA booths received information regarding DBA clinical care, patient opportunities, and research.

Date Funded: 11/17

A DBAF grant of $20,000 was awarded to Dr. Anna Aspesi, a junior investigator who for the past 14 years has been working in various capacities (graduate student, postdoctoral fellow) in the laboratory of Dr. Irma Dianzani at the Universita del Piemonte Orientale in Novara Italy for the project entitled, “The problem of interpreting missense mutations of DBA genes: proposal of a new functional assay.” The aim of this study is using a functional complementation assay in order to determine if a variant of unknown significance is involved in the pathogenesis of DBA.

Date Funded: 11/17

The DBAF supported the 2017 GATA Meeting with a $3500 donation. The scientific program includes talks by more than 30 speakers who are international experts in the biology of GATA factors. The meeting will provide an excellent opportunity to discuss, amongst others, recent progress made through “omics” technologies in providing an unprecedented view of the transcriptional landscapes that GATA factors regulate and the mounting genetic and molecular evidence implicating GATA factors in human disease.

Date Funded: 7/17

DBAF and DBA Canada hosted a family meeting and donated $10,000 to Camp Sunshine.

Date Funded: 7/17

A DBAF grant of $56,021 was awarded to Vijay G. Sankaran, M.D., Ph.D., Harvard Medical School,  Broad Institute of MIT and Harvard, Boston Children’s Hospital, Boston, MA for the project, “Dissecting the genetic architecture of Diamond Blackfan anemia.” The goal of this proposal is to mine whole exome sequencing data to identify novel genes responsible for DBA. Offshoots of this study will be new approaches to identifying slice site mutations responsible for human disease and developing a database to study clonal hematopoiesis in DBA patients.  The latter will be important for understanding the progression of blood cancers in DBA patients.

Date Funded: 2/17

DBAF funded Barry H. Paw’s, M.D., Ph.D., Harvard Medical School, Brigham and Women’s Hospital, Boston Children’s Hospital, and Dana-Farber Cancer Institute, Boston, MA research project entitled, “Therapeutic targeting of protein translation in DBA” for $50,866. This application addresses the broad challenge of identifying new therapeutics for DBA patients. It involves the use of a new zebrafish model to monitor protein translation and has potential implications on gene discovery.