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Completed Grants and Sponsored Research

Sponsor Grant ID: Research Award Project Date: October 01, 2015 - September 30, 2018
Sponsoring Organization: Leukemia & Lymphoma Society

Modeling MDS and Leukemia Predisposition for Novel Therapeutics

Description of Major Goals
The specific aim of this study is to identify small molecule compounds that target del7q clones in Shwachman Diamond Syndrome.
Sponsor Grant ID: W81XWH-16-1-0054 Project Date: February 15, 2016 - February 14, 2018
Sponsoring Organization: Department of Defense

Modeling Marrow Failure and MDS for Novel Therapeutics

Description of Major Goals
This will utilize CRISPR/Cas to knock down genes. This approach will address the potential limitations of offtarget effects engendered by siRNA screening approaches.
Sponsor Grant ID: Research Award Project Date: February 19, 2013 - December 31, 2015
Sponsoring Organization: Ghighlione Aplastic Anemia

Molecular Pathogenesis and Treatment of Aplastic Anemia

Description of Major Goals
Aim: 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.
Sponsor Grant ID: Research Award Project Date: February 1, 2014 - June 30, 2015
Sponsoring Organization: Butterfly Guild

MDS and Leukemia Development in Shwachman-Diamond Syndrome

Description of Major Goals
Aim: Utilize induced pleuripotent stem cells to study clonal evolution in Shwachman-Diamond Syndrome. I designed the study and experiments and analyzed the data.
Sponsor Grant ID: Research Award Project Date: July 1, 2013 - June 30, 2015
Sponsoring Organization: Aplastic Anemia & MDS International Foundation

Genetic Predictors of Response to Immunosuppressive Therapy for Aplastic Anemia

Description of Major Goals
Aim: 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.
Sponsor Grant ID: R24 AI049393-10 Project Date: September 1, 2010 - August 31, 2014
Sponsoring Organization: NIH/NIAID

Severe Chronic Neutropenia International Registry

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 5 R01 HL079582-11 Project Date: September 30, 2004 - May 31, 2014
Sponsoring Organization: NIH/ NHLBI

Shwachman-Diamond Syndrome: Molecular Pathogenesis

Description of Major Goals
Aim: Investigate the role of SBDS in ribosome homeostasis. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsor Grant ID: Research Award Project Date: August 1, 2012 - July 31, 2013
Sponsoring Organization: Butterfly Guild

Expansion of Shwachman-Diamond Syndrome Hematopoietic Stem/Progenitor Cells

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 1 R03 A1092423 Project Date: August 1, 2011 - July 31, 2013
Sponsoring Organization: NIH / NIAID

Characterization of Immune Deficiency in Congenital Bone Marrow Failure Syndrome

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 5 RC1HL100270 Project Date: September 30, 2009 - June 30, 2013
Sponsoring Organization: NIH / NHLBI

Towards a Model of Fanconi Anemia

Description of Major Goals
Aim: 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.
Sponsor Grant ID: Research Award Project Date: July 1, 2011 - June 30, 2012
Sponsoring Organization: St. Baldrick’s Foundation

Translational Regulation in the Inherited Bone Marrow Failure Syndromes

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 5 UL1 DE019582 Project Date: July 1, 2010 - June 30, 2012
Sponsoring Organization: NIH / NIDCR

Site-directed gene correction of iPS cells from patients with inherited bone marrow failure syndromes

Description of Major Goals
Aim: 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.
Sponsor Grant ID: Registry/Repository Project Date: July 1, 2008 - June 30, 2012
Sponsoring Organization: Shwachman Diamond Syndrome Ltd

Shwachman-Diamond Syndrome International Registry and Repository

Description of Major Goals
Aim: 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.
Sponsor Grant ID: Research Award Project Date: June 15, 2011 - June 14, 2012
Sponsoring Organization: Butterfly Guild

Preclinical models for Shwachman-Diamond Syndrome

Description of Major Goals
Aim: Characterize the hematopoietic phenotype of a mouse model of SDS. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsor Grant ID: 1 R03 AI079734 Project Date: September 17, 2008 - August 31, 2011
Sponsoring Organization: NIH/NIAID

Shwachman-Diamond Syndrome International Registry and Repository

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 1 RC1 DK087680 Project Date: September 30, 2009 - July 31, 2011
Sponsoring Organization: NIH /NIDDK

Model Systems for Hematologic Disorders Caused by Ribosomal Protein Deficiency

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 3 R01 HL079582-06S1 Project Date: July 1, 2009 - June 30, 2011
Sponsoring Organization: NIH/NHLBI

Shwachman-Diamond Syndrome: Molecular Pathogenesis

Description of Major Goals
Aim: 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.
Sponsor Grant ID: CCEH, 5 P30 DK056465 Project Date: December 1, 2008 - November 30, 2009
Sponsoring Organization: NIH/NIDDK

Ribosomes and Translational Regulation in Hematopoiesis

Description of Major Goals
Aim: Study the translational control of gene expression during hematopoiesis. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsor Grant ID: R13 HL088725-01 Project Date: April 20, 2007 - March 31, 2008
Sponsoring Organization: NIH/NHLBI

4th International Congress on Shwachman-Diamond Syndrome

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 5 K23 HL68632
Sponsoring Organization: NIH/NHLBI

Clinical Applications of a Novel Fanconi Anemia Assay

Description of Major Goals
Aim: Investigate diagnostic and therapeutic applications of the FANCD2 activation assay. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsor Grant ID: Research Award
Sponsoring Organization: The Gracie Fund

Molecular studies of Shwachman-Diamond Syndrome

Description of Major Goals
Aim: Understand the molecular pathogenesis of Shwachman Diamond syndrome. I designed the study and experiments, analyzed the data, and wrote the papers
Sponsor Grant ID: Clinical Project Project Date: June 1, 2006 - September 30, 2007
Sponsoring Organization: Center for Disease Control (CDC)

Diamond Blackfan Anemia Education and Outreach

Description of Major Goals
Aim: 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.
Sponsor Grant ID: 5 P50 HL54785 Project Date: September 1, 2000 - August 31, 2005
Sponsoring Organization: SCOR/ NIH/ NHLBI (PI: Dr. Nathan)

Stem Cell Therapy of Congenital Defects in Hematopoiesis: Project 5

Description of Major Goals
Develop 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.
Sponsor Grant ID: Career Development Award
Sponsoring Organization: Scholars in Medicine

Signaling Pathways Regulating Tumorigenesis and Myelopoiesis.

Description of Major Goals
Aim: Investigate pathways regulating myelopoiesis and malignant transformation. I designed the experiments, analyzed the data, and wrote the papers.
Sponsor Grant ID: Clinical Project
Sponsoring Organization: Hood Foundation

Establishment of a Bone Marrow Failure Clinic

Description of Major Goals
Aim: 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.
Sponsor Grant ID: Career Development Award Foundation Project Date: September 1, 1997 - August 31, 2000
Sponsoring Organization: Howard Hughes Medical Institute

Signal Transduction Pathways Regulating Cell Growth and Apoptosis

Description of Major Goals
Identify signaling pathways regulating apoptosis. I designed the study and experiments, analyzed the data, and wrote the papers.
Sponsor Grant ID: Research Award Foundation Project Date: August 1, 1997 - July 31, 1999
Sponsoring Organization: V Foundation

Cell-Free Analysis of p53 and the Apoptosis Cascade

Description of Major Goals
Aim: Investigate the regulation of apoptosis using a cell-free system. I designed the study and experiments, analyzed the data, and wrote the papers.