CAF Awards $100,000 in Medical Research Fellowships

CAF is pleased to announce one new Cooley’s Anemia Foundation Medical Research Fellowship and one renewal Fellowship have been awarded for the 2022-2023 grant cycle. The total amount of funding for the two research Fellowships is $100,000.

These Fellowship recipients were assessed on the basis of the quality of the scientific content, the academic accomplishments and future promise of the investigator, the quality of the mentor in the case of postdoctoral fellowships, and, of particular importance, the relevance of the project to the understanding and treatment of Cooley’s anemia. The CAF Grant Review Committee reviewed all applications carefully while adhering to the highest standard for scientifically un-biased reviews and made its recommendations for funding to the CAF Board of Directors, who approved those recommendations at its annual Board meeting.

We thank Dr. Janet Kwiatkowski, Chair of the CAF Grant Review Committee and Medical Advisory Board, and the other members of the Grant Review Committee for carefully reviewing the grant applications and making these important recommendations. We are excited to see what the investigators learn in these important and cutting-edge experiments.

First-Year Fellow


Francesca Vinchi, PhD, of New York Blood Center, will study the role of Non-Transferrin Bound Iron (NTBI) and iron toxicity in Bone Marrow Transplant (BMT) complications, focusing on beta-thalassemia.

Bone Marrow Transplantation (BMT) remains the only fully curative therapy for diseases such as b-thalassemia, and a relevant procedure for gene therapy protocol. Iron overload is a very common but often neglected transplant-related complication, which if uncontrolled, can potentially affect transplant outcome. Recent evidence has proven that the formation of free iron occurs during conditioning and last through the peri-transplant period, being exacerbated in b-thalassemia patients by chronic transfusions.

Dr. Vinchi aims to characterize the pathophysiological processes leading to peri-transplant NTBl formation and identify the molecular mechanisms elicited by the toxic action of NTBI. In addition, she plans to limit BMT-NTBl-related toxicities by iron restriction approaches.

Second Year-Renewal Fellow


Mahesh Ramamoorthy, PhD, of Cleveland State University, will continue investigating the role of ATRX mediated subtelomere cohesion on alpha globin expression in ATRX syndrome.

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition in which alpha­ thalassemia is associated with intellectual disability, muscle weakness, short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene on the X-chromosome (not an alpha globin gene mutation).

Telomeres and subtelomeres are specialized protein-DNA structures present at the ends of chromosomes. These structures prevent chromosomes from breaking down and end-to-end chromosomal fusion. Telomeres and subtelomeres are dynamic structures that change during the cell cycle. These modifications also influence the transcription located in subtelomeric regions.

Dr. Mahesh is studying how ATRX interactions with other proteins alters the expression of the subtelomeric alpha globin genes. The significance is the potential to develop small molecules to target this mechanism that could be used to either enhance a-globin expression in a-thalassemia or decrease a-globin expression in beta-thalassemia.

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