Completed Grants and Sponsored Research
Sponsoring Organization: Leukemia & Lymphoma Society
Modeling MDS and Leukemia Predisposition for Novel Therapeutics
Description of Major GoalsThe specific aim of this study is to identify small molecule compounds that target del7q clones in Shwachman Diamond Syndrome.
Sponsoring Organization: Department of Defense
Modeling Marrow Failure and MDS for Novel Therapeutics
Description of Major GoalsThis will utilize CRISPR/Cas to knock down genes. This approach will address the potential limitations of offtarget
effects engendered by siRNA screening approaches.
Sponsoring Organization: Ghighlione Aplastic Anemia
Molecular Pathogenesis and Treatment of Aplastic Anemia
Description of Major GoalsAim: Support research on aplastic anemia with the goal of improving diagnosis and treatment. I designed the study and experiments, analyze the data, and wrote the papers.
Sponsoring Organization: Butterfly Guild
MDS and Leukemia Development in Shwachman-Diamond Syndrome
Description of Major GoalsAim: Utilize induced pleuripotent stem cells to study clonal evolution in Shwachman-Diamond Syndrome. I designed the study and experiments and analyzed the data.
Sponsoring Organization: Aplastic Anemia & MDS International Foundation
Genetic Predictors of Response to Immunosuppressive Therapy for Aplastic Anemia
Description of Major GoalsAim: Investigate genomic markers to guide choice of therapy for aplastic anemia. I designed the study and experiments, analyzed the data, and am editing the paper manuscript.
Sponsoring Organization: NIH/NIAID
Severe Chronic Neutropenia International Registry
Description of Major GoalsAim: Coordinate studies investigating common mechanisms and clinical complications shared between SCN and other neutopenia/ marrow failure syndromes. I served as a collaborator to review clinical records to determine study eligibility and field questions from referring physicians.
Sponsoring Organization: NIH/ NHLBI
Shwachman-Diamond Syndrome: Molecular Pathogenesis
Description of Major GoalsAim: Investigate the role of SBDS in ribosome homeostasis. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: Butterfly Guild
Expansion of Shwachman-Diamond Syndrome Hematopoietic Stem/Progenitor Cells
Description of Major GoalsAim: Develop methods to expand autologous hematopoietic stem cells from Shwachman-Diamond syndrome patients to provide sufficient numbers of cells for mutational repair and for improved engraftment. I designed the experiments and analyzed the data.
Sponsoring Organization: NIH / NIAID
Characterization of Immune Deficiency in Congenital Bone Marrow Failure Syndrome
Description of Major GoalsAim: Investigate whether short telomere length is associated with immunologic dysfunction in patients presenting with and without marrow failure. I clinically phenotyped patients with marrow failure for this study and recruited study subjects.
Sponsoring Organization: NIH / NHLBI
Towards a Model of Fanconi Anemia
Description of Major GoalsAim: Utilize spermatogonial stem cell (SSC) transplantation to generate a canine model of Fanconi anemia. I served as administrative PI for this multi-PI grand and designed the experiments and analyzed the data for my project.
Sponsoring Organization: St. Baldrick’s Foundation
Translational Regulation in the Inherited Bone Marrow Failure Syndromes
Description of Major GoalsAim: Examine the role of translational control of gene expression in a ribosomal disorder contributing to leukemogenesis via marrow stromal cell dysfunction. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: NIH / NIDCR
Site-directed gene correction of iPS cells from patients with inherited bone marrow failure syndromes
Description of Major GoalsAim: Utilize engineered homing endonucleases to correct the mutations causing the inherited bone marrow failure syndrome Shwachman-Diamond syndrome (SDS) in SDS patient-derived iPS cells. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: Shwachman Diamond Syndrome Ltd
Shwachman-Diamond Syndrome International Registry and Repository
Description of Major GoalsAim: Establish a patient registry of clinical data and biological specimens to characterize the longitudinal natural history and molecular biology of Shwachman-Diamond syndrome. I organized and directed Registry activities.
Sponsoring Organization: Butterfly Guild
Preclinical models for Shwachman-Diamond Syndrome
Description of Major GoalsAim: Characterize the hematopoietic phenotype of a mouse model of SDS. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: NIH/NIAID
Shwachman-Diamond Syndrome International Registry and Repository
Description of Major GoalsAim: Work with the Severe Chronic Neutropenia Registry to establish international studies of Shwachman-Diamond syndrome. I directed the development of the Shwachman Diamond Syndrome Registry and Repository.
Sponsoring Organization: NIH /NIDDK
Model Systems for Hematologic Disorders Caused by Ribosomal Protein Deficiency
Description of Major GoalsAim: Study the signaling pathways leading from ribosomal protein insufficiency to p53 activation through 5’TOP translation regulation. I performed the studies knocking down ribosomal protein gene expression in primary human CD34+ cells and assessed effects on p53 activation.
Sponsoring Organization: NIH/NHLBI
Shwachman-Diamond Syndrome: Molecular Pathogenesis
Description of Major GoalsAim: Evaluate the effect of HDAC inhibitors on ribosome biogenesis and hematopoiesis. These compounds were identified as strong and reproducible hits in the unbiased chemical library screen in yeast. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: NIH/NIDDK
Ribosomes and Translational Regulation in Hematopoiesis
Description of Major GoalsAim: Study the translational control of gene expression during hematopoiesis. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: NIH/NHLBI
4th International Congress on Shwachman-Diamond Syndrome
Description of Major GoalsAim: Support the Fourth International Congress on Shwachman-Diamond syndrome to discuss the latest clinical and research advances from multiple medical and scientific disciplines. I wrote the grant, worked with Dr. Grand to organize the conference, and wrote up the conference summary.
Sponsoring Organization: NIH/NHLBI
Clinical Applications of a Novel Fanconi Anemia Assay
Description of Major GoalsAim: Investigate diagnostic and therapeutic applications of the FANCD2 activation assay. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: The Gracie Fund
Molecular studies of Shwachman-Diamond Syndrome
Description of Major GoalsAim: Understand the molecular pathogenesis of Shwachman Diamond syndrome. I designed the study and experiments, analyzed the data, and wrote the papers
Sponsoring Organization: Center for Disease Control (CDC)
Diamond Blackfan Anemia Education and Outreach
Description of Major GoalsAim: Develop a system of care for assessment and education, regional outreach to caregivers and families, and data collection to improve care for patients with Diamond Blackfan Anemia. I served as director for Boston Children’s Hospital Center of Excellence for Diamond Blackfan Anemia.
Sponsoring Organization: SCOR/ NIH/ NHLBI (PI: Dr. Nathan)
Stem Cell Therapy of Congenital Defects in Hematopoiesis: Project 5
Description of Major GoalsDevelop and conduct clinical trials to correct congenital disease of the human hematopoietic stem cell. Project 5 focused on gene replacement for marrow failure syndromes. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: Scholars in Medicine
Signaling Pathways Regulating Tumorigenesis and Myelopoiesis.
Description of Major GoalsAim: Investigate pathways regulating myelopoiesis and malignant transformation. I designed the experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: Hood Foundation
Establishment of a Bone Marrow Failure Clinic
Description of Major GoalsAim: Establish a clinical program to improve the care of patients with marrow failure and to develop resources for basic research on marrow failure. I developed a Bone Marrow Failure program integrating clinical and research activities.
Sponsoring Organization: Howard Hughes Medical Institute
Signal Transduction Pathways Regulating Cell Growth and Apoptosis
Description of Major GoalsIdentify signaling pathways regulating apoptosis. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsoring Organization: V Foundation
Cell-Free Analysis of p53 and the Apoptosis Cascade
Description of Major GoalsAim: Investigate the regulation of apoptosis using a cell-free system. I designed the study and experiments, analyzed the data, and wrote the papers.