Date Funded November 2025:

Friends of DBA donated $10,000 to the Diamond Blackfan Anemia Foundation for DBA Research.

Date Funded July 2024:

The Diamond Blackfan Anemia Foundation, in partnership with Friends of DBA and Diamond Blackfan Anemia Canada, has awarded $50,000 to Maria Barna, Ph.D., Stanford University for her project entitled, “Small molecule chemical screens to restore protein synthesis in DBA.” The proposal involves a high throughput screen for small molecule activators of protein synthesis, which the principal investigator hypothesizes will compensate for the protein synthesis deficiency caused by ribosomal protein haploinsufficiency and ameliorate the clinical features of DBAS. Dr. Barna has already identified a lead molecule that increases protein synthesis rates by approximately 15% in a human cellular model of DBAS. 

Date Funded April 2024:

Stanford University’s Kathleen Sakamoto, M.D., Ph.D. and Agnieszka Czechowicz M.D., Ph.D., were awarded $70,000 for their project entitled, “Development of non-genotoxic anti-c-Kit antibody-based conditioning for hematopoietic stem cell transplantation in DBA” by the Diamond Blackfan Anemia Foundation, with the support of Friends of DBA and DBA Canada. This proposal will develop a non-genotoxic preconditioning regimen for use in preparing DBAS patients for classical hematopoietic stem cell transplantation and/or gene therapy. This is a novel approach to HSCT for DBAS patients that will improve safety by replacing genotoxic conditioning agents with specific monoclonal antibodies that target a cell surface protein that is expressed on hematopoietic stem cells and is critical for their function. Based on preliminary data, it is hypothesized that this will safely eliminate the diseased DBAS bone marrow to make space for healthy donor, or gene-edited autologous, bone marrow cells that can then give rise to normal blood and immune cells after HSCT.

Date Funded April 2024:

Friends of DBA donated $30,000 to the Diamond Blackfan Anemia Foundation in support o the DBAS Meeting for Adults with Diamond Blackfan Anemia.

Date Funded April 2024:

Friends of DBA opened an endowment with the Cleveland Foundation in Cleveland, Ohio for $180,000 to create a legacy for Friends of DBA.

Date Funded December 2023:

Vijay G. Sankaran, M.D., Ph.D. and Richard A. Voit, M.D., Ph.D., were awarded a $70,000 grant for their project entitled “Assessing preclinical safety of a unified gene therapy cure for DBA” by the Diamond Blackfan Anemia Foundation (DBAF) with the support of Friends of DBA and DBA Canada. DBA syndrome is caused by mutations in one of more than two dozen ribosomal proteins and other related genes, limiting the focus of current preclinical traditional gene therapy efforts to select genes. One consequence of these mutations is impaired production of GATA1. The investigators plan to develop a gene therapeutic treatment based on GATA1 expression that could be used for patients with mutations in each of the ribosomal proteins affected in DBAS. The aim of this project is to determine the preclinical safety of regulated GATA1 gene therapy using FDA required approaches.

Date Funded November 2023:

The Diamond Blackfan Anemia Foundation, in partnership with Friends of DBA and Diamond Blackfan Anemia Canada, has awarded $116,573 to Professor John Strouboulis, Chair of Molecular Erythropoiesis at King’s College London. The aim of his research project entitled “Proteomic characterization of GATA1 short human erythroid cellular models” is to gain knowledge on how a specific class of mutations in the GATA1 gene leads to DBA syndrome. GATA1 is a transcription factor that plays a major role in erythropoiesis. Mutations in the GATA1 gene that give rise to DBA syndrome lead to the expression of a truncated form of the protein lacking a critical domain found at the amino terminus of the full-length protein. While the truncated form of the protein still functions as a transcription factor, it does not support erythropoiesis. Furthermore, the progenitor cells expressing this protein display enhanced apoptosis. Understanding how erythropoiesis is affected by the GATA1S mutation is critical for understanding DBA pathophysiology. Previous studies by the Strouboulis laboratory showed ribosomal protein genes are downstream target genes for the GATA1 transcription factor. Further studies of GATA1S could link this pathway to the bulk of DBA patients with mutations in ribosomal protein genes.

Date Funded November 2023:

Friends of DBA donated $1,500 to the Diamond Blackfan Anemia Foundation for ASH Convention expenses.

Date Funded August 2023:

Dr. Abdulrahman Aldeeri, MBBS and Dr. Timothy Yu, MD, PhD of Boston Children’s Hospital were awarded $138,408 for the research study “Genomic Sequencing for Novel Gene Discovery in Unsolved DBA Patients” by the Diamond Blackfan Anemia Foundation, with the support of Friends of DBA and DBA Canada. The objective of this project is to expand upon the previous exome sequencing work by this group at Boston Children’s through further exome sequencing, genome sequencing, and pre-ribosomal RNA maturation assays to identify new causative mutations in patients without known mutations for DBA. Previously, this group has performed exome sequencing on 472 clinically diagnosed DBA patients and identified the underlying molecular defect in 78% of them. This effort also led to the discovery of previously unreported connections between DBA and 9 ribosomal protein genes, enhanced understanding of the biology of DBA, and uncovered potentially targetable genes and pathways. It is estimated that by more comprehensively evaluating copy number variants, cryptic sites, and non-coding regions, the diagnostic rate in DBA cohorts may increase from 78% by exome sequencing to more than 90% by combined whole genome sequencing and RNA sequencing. This could greatly aid the 25% of DBA cases that exist without a known genetic mutation.

Date Funded July 2023:

Friends of DBA donated $20,000 to the Diamond Blackfan Anemia Foundation for the ICC Meeting in October 2023.

Date Funded April 2023:

The Diamond Blackfan Anemia Foundation, in partnership with Friends of DBA and Diamond Blackfan Anemia Canada, has awarded over $67,000 to Laura Paulette Fernández-Cárdenas, PhD of the Joslin Diabetes Research Center at Harvard Medical School for the project entitled “Leveraging C. elegans as a DBA discovery and therapeutic model.” Dr. Fernández-Cárdenas shared the following statement: “We thank the Diamond Blackfan Anemia Foundation, Inc., Friends of DBA, and Diamond Blackfan Anemia Canada for supporting our research: ‘Leveraging C. elegans as a DBA discovery and therapeutic model.’ Our research uses the powerful genetic model organism Caenorhabditis elegans to study a gene expression response that protects against metabolic and proteostasis perturbations that are caused by ribosomal stress. By investigating this response, we have begun to identify strategies that ameliorate the defects caused by ribosomal stress in C. elegans. We expect that knowledge gained from this work will help us understand mechanisms that underlie DBA and that this will lead to therapeutic strategies that may be applicable to any DBA mutation.”

Date Funded January 2023:

Dr. Senthil Bhoopalan, MBBS, PhD and Dr. Mitchell Weiss, MD, PhD of St. Jude’s Children’s Research Hospital, were awarded $70,000 for the research study “Preclinical Development of Lentiviral Vector Gene Therapy for Diamond-Blackfan Anemia” by the Diamond Blackfan Anemia Foundation, with the support of Friends of DBA and DBA Canada. These doctors have developed a third-generation, self-inactivating lentiviral vector expressing codon-optimized RPS19 and a novel model of human DBA using healthy donor CD34+ hematopoietic stem/progenitor cells. The objectives of this late-stage preclinical study are to assess the essential efficacy and safety of the clinical RPS19 lentiviral vector using this novel experimental DBA model system. If successful, this study could lead to a Phase I/II clinical trial for DBA gene therapy. While this study will begin with the RPS19 gene, the findings could, in principle, be applied to any gene affected in DBA patients.

Date Funded December 2022:

Friends of DBA donated $2,000 to the Diamond Blackfan Anemia Foundation to cover ASH Convention expenses.

Date Funded December 2022:

The Diamond Blackfan Anemia Foundation, with the support of Friends of DBA and DBA Canada, awarded $70,000 to Dr. Johan Flygare, MD, PhD of The Lund Stem Cell Centre for the research project entitled, “Clonal Dynamics and Molecular Signatures in the Bone Marrow of DBA Patients Undergoing Clinical Gene Therapy.” Research at Lund University has supported the development of a clinical gene therapy drug, which is expected to enter in Phase I/II trials in 2023 in Sweden, representing the first clinical gene therapy study for DBA patients with the RPS19 mutation. Dr. Flygare’s project is a sub-study of this clinical trial, whereby samples collected during the trial will be used to study the competition between the gene-rescued cells and disease cells in the bone marrow. The goal of this study is to increase safety and improve outcomes for gene therapies and similar therapeutic approaches in patients with DBA syndrome.

Date Funded June 2021:

The Diamond Blackfan Anemia Foundation with the support of Friends of DBA and DBA Canada awarded $60,000 to Dr. John Crispino, St. Jude Children’s Research Hospital, Memphis, TN, and Dr. Lionel Blanc, the Feinstein Institute for Medical Research, Manhasset, NY, for the research project entitled, “Uncoupling ribosomal protein and GATA1 biology in DBA.” Dr. Crispino has recently moved from Northwestern University to St. Jude Children’s hospital to join and strengthen an already impressive cadre of researchers investigating inherited bone marrow failure syndromes, including DBA. Drs. Crispino and Blanc hypothesize that there are significant differences in the pathways that lead to ineffective erythropoiesis between the two groups, GATA1 and RP mutant cases. The aims of this study are to compare gene expression profiles of erythroid progenitor cells from Gata1s and Rps19+/- mutant mice and further, determine the extent to which differences in the animal models are recapitulated in patients with DBA; to perform epigenetic profiling, including ATAC-seq and CUT&RUN for GATA1, H3K27me3 H3K27ac, and H3K4me1, in erythroid progenitor cells from the Gata1s and Rps19+/- mutant mice; and to leverage CRISPR/Cas9 to identify genes whose dysregulation ameliorates aberrant maturation of red cells from the Gata1s and Rps19+/- models. Ultimately, the goal is to determine the similarities and differences in gene expression and GATA1 activity in GATA1 and RP mutant DBA.

Date Funded October 2020:

Friends of DBA donated $30,000 to various DBA Families in the form of a “DBA Stimulus Check” to financially assist them during COVID.

Date Funded October 2020:

The Diamond Blackfan Anemia Foundation is pleased to support the Diamond Blackfan Anemia Registry (DBAR) and the Feinstein Institute for Medical Research, with $113,000 for the project entitled, “A Vital Tool for the Study of DBA: The Diamond Blackfan Anemia Registry”. The DBAF, in partnership with Friends of DBA and DBAC, is pleased to fund this worthwhile project. The main objective of the project is to continue to improve and utilize DBAR to facilitate epidemiology and biology of DBA; provide a clinical context for laboratory studies; provide an accurate phenotype for DBA patients and facilitate genotype/phenotype correlations; utilize the DBAR patient database to develop and manage clinical trials; provide patients and health care providers access to novel treatments, gene discoveries, and other research studies; provide patients and health care providers access to the results of treatment, gene discovery, and other research studies; serve as a resource to patients and their doctors to guide diagnostic, therapeutic, and reproductive decisions; and solicit national and international collaborative research. Friends of DBA donated $57,000 in support of this research.

Date Funded December 2019:

Friends of DBA donated $40,000 to the Daimond Blackfan Anemia Foundation for DBA Research

Date Funded September 2019:

DBAF proudly hosted our first Meeting for Adults with DBA in New York City. Participants and a support person attended medical seminars and group sessions and enjoyed the friendship and fellowship of this very special community. Friends of DBA donated $15,000 in support of this meeting.

Date Funded July 2019:

Friends of DBA donated $500 to the Daimond Blackfan Anemia Foundation to help offset family travel to DBA Camp Sunshine in Casco, ME

Date Funded December 2018:

The DBAF has awarded $54,754 with support from DBAC and from Friends of DBA to Dr. Scott C. Blanchard, PhD, from Weill Cornell Medicine for the project entitled “Identifying associations between DBA and genomic variation in ribosomal DNA”. The overall aims of the proposal are to sequence the ribosomal DNA (rDNA) repeat to assess whether sequence variation within this repeat contributes to the clinical features of DBA. This is a novel approach to understanding clinical variability among DBA patients.

Date Funded February 2018:

Johan Flygare, M.D., Ph.D. of Lund University in Sweden was awarded $75,000, with support from DBA Canada and Friends of DBA, for his project entitled, “Targeted corticosteroid therapy for DBA.” The goal of the proposal is to enhance the delivery of steroids directly to erythroid progenitors in DBA to reduce the overall toxicity of steroids, which often limits their effectiveness as a treatment for DBA. The approach Dr. Flygare will use is to attach steroids to an antibody that specifically recognizes a protein expressed on erythroid progenitors. After binding to the erythroid progenitors, the antibody gets internalized, delivering the steroids specifically to only those cells that are recognized by the antibody. Using this approach, one could presumably lower the amounts of steroids used to get a beneficial effect, and since the delivery is specific, it would reduce the amounts of steroids hitting other tissues causing side effects.

Date Funded July 2017:

Friends of DBA donated $2,500 to the Daimond Blackfan Anemia Foundation to help offset DBA expenses for family education at Camp Sunshine in Casco, ME

Friends of DBA donated $93,000 to the Daimond Blackfan Anemia Foundation in support of DBA Research.