Grant Recipients | Page 4 | Aplastic Anemia & MDS International Foundation

Grant Recipients

For nearly 30 years, AAMDSIF has provided research grants totaling in excess of $5 million to an international group of more than 90 researchers to help advance the understanding and treatment of aplastic anemia, myelodysplastic syndromes (MDS), and paroxysmal nocturnal hemoglobinuria (PNH).

The two-year grants have helped bring forth new insights into the causes and therapeutic approaches for these diseases. These grantee profiles present the grantees by year the awards were granted, and a summary of their grant-funded research projects.

View a single grant year.

Grant Year: 2013

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Akiko Shimamura, MD, PhD

Torry Yahn Research Fund

Currently aplastic anemia is treated with immunosuppressive therapy (IST) or a bone marrow transplant.  Approximately 30% of aplastic anemia patients treated with IST are refractory to treatment or develop myelodysplastic syndromes (MDS) and leukemia.  Tests to predict which patients will fare poorly to immunosuppressive therapy would inform upfront treatment decisions.  We will utilize cutting edge genomic technologies to screen for genetic markers predictive of poor outcomes with IST.  This study will develop a novel diagnostic tool for aplastic anemia to guide treatment decisions with the goal of improving patient survival. 

Grant Year: 2012

David Araten, MD

PNH Research and Support Foundation

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a disorder in which  bone marrow failure is an important feature. The bone marrow failure in PNH is similar or identical to that which occurs in aplastic anemia. However, PNH has a few other features, some of which are well understood and some of which are not . One of the features that is not well understood in PNH includes the  expansion of an abnormal stem cell clone in the bone marrow (called clonal expansion) which can by itself provide a very large percentage of the patient's blood cells. This clone has as its feature the presence of a mutation in a gene called PIG-A. Different patients have different types of mutations in this gene, but it is always in this gene.  It has long been suspected that there may be other genes...

Lisa Minter, PhD

Caitlyn Langley Research Fund, Holly Cataldo Research Fund

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Jeffrey Pu, MD, PhD

PNH Research and Support Foundation

Acquired bone marrow failure diseases include myelodysplastic syndrome (MDS), acquired aplastic anemia (AA), and paroxysmal nocturnal hemoglobinuria (PNH). PNH is a clonal disorder originating from a multipotent hematopoietic stem cell (HSC) acquiring a PIG-A gene mutation. PIG-A mutations lead to the absence of glycosylphosphatidylinositol-anchor proteins (GPI-AP), which contributes to many manifestations of PNH. About 25% of MDS patients and 60% of AA patients also harbor small populations of PNH-like cells (0.01-10%). It was observed that: 1) 10-20% of AA patients harboring PNH-like cells eventually transform into PNH, but MDS patients seldom evolve to PNH; 2) AA patients harboring PNH-like cells may have a better response to immunosuppressive therapy; 3) PIG-A mutation...
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Matthew J. Walter, MD

Research is Hope Fund

The genes responsible for MDS initiation are largely unknown. Recently, a group of genes that are important for splicing together RNA in cells were found to be mutated in up to 57% of MDS patients. How these mutations contribute to MDS initiation is unknown. We will determine whether a mutation in one of these genes (U2AF1) affects blood cell formation in mice and alters the splicing of RNA in bone marrow cells from mice and MDS patients.
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Zhe Yang, PhD

Harold Spielberg Research Fund

Dr. Yang's project is Structural insights into deregulated epigenetic mechanisms and DNA demethylation in MDS. The exciting new discovery of frequent Tet2 mutation in a wide range of myeloid malignancies including myelodysplastic syndromes (MDS) highlights the clinical significance of this myeloid relevant protein with potential applications to disease diagnosis, treatment, and prognosis. Successful completion of this project that focuses on Tet2 structure and function will be important for unraveling the structural basis of MDS at the molecular level, providing a framework for understanding how pathological Tet2 mutations cause MDS, and most importantly, will potentially open avenues to novel therapeutic strategies to ameliorate a variety of myeloid disorders including MDS. "This...

Grant Year: 2011

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Kim-Hien T. Dao, DO, PhD

Torry Yahn Research Fund

Dr. Dao will investigate why the blood stem cells from patients who inherit a loss-of-function mutation in one of the genes of the Fanconi anemia pathway are highly susceptible to cell death yet also highly susceptible to conversion into an acute leukemia.

Keith McCrae, MD

PNH Research and Support Foundation

Dr. McCrae's study explores why patients with PNH are at increased risk for the development of thrombosis, or blood clots, that may affect arteries or veins and cause events such as pulmonary emboli or stroke.
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Parinda Mehta, MD

Trinity Ewert Research Fund

Dr. Mehta will study the use of Quercetin, a naturally occurring flavonoid (antioxidant) in patients with Fanconi anemia, one of the most common congenital bone marrow failure syndromes. She anticipates that the results of this pilot study will show that long term oral Quercetin therapy is feasible and well tolerated in patients with Fanconi anemia. These results will form the basis of the continuation phase of the study, which will demonstrate that Quercetin therapy in fact delays or prevents progressive marrow failure in children with Fanconi anemia.
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Mridul Mukherji, DPhil

Harold Spielberg Research Fund

TET2 is one of the most frequently mutated genes identified in patients with myelodysplastic syndromes (MDS). This study will help explore new avenues for the cure TET2 mutations, and Dr. Mukherji says he and his colleagues “will use our expertise to develop strategies to restore TET2 activity for the treatment of MDS.”