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Completed Grants and Sponsored Research

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.