Selected Publications

Academic Article

Year Title Altmetric
2020 Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report. 2020
2019 Understanding the evolving phenotype of vascular complications in telomere biology disorders 2019
2019 The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). 2019
2018 SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery 2018
2018 Bone Marrow Transplantation after Nonmyeloablative Treosulfan Conditioning Is Curative in a Murine Model of Sickle Cell Disease 2018
2018 Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study 2018
2017 Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: A PIDTC natural history study 2017
2017 Immune-mediated cytopenia in pediatric primary immune deficiency patients following HSCT 2017
2017 Pulmonary complications post hematopoietic stem cell transplant in dyskeratosis congenita: Analysis of oxidative stress in lung fibroblasts 2017
2017 Inferior outcomes for black children with high risk acute lymphoblastic leukemia and the impact of socioeconomic variables 2017
2016 Novel HDAd/EBV Reprogramming Vector and Highly Efficient Ad/CRISPR-Cas Sickle Cell Disease Gene Correction 2016
2016 Robust DNA damage response and elevated reactive oxygen species in TINF2-mutated dyskeratosis congenita cells 2016
2016 Extremely early onset IPEX syndrome caused by a novel small exonic deletion in FOXP3 2016
2015 Modeling Human Severe Combined Immunodeficiency and Correction by CRISPR/Cas9-Enhanced Gene Targeting 2015
2014 Transplantation of Severe Combined Immunodeficiency in 240 Patients from 2000-2009: A Report from the Primary Immune Deficiency Treatment Consortium of North America. 2014
2014 Primary Immune Deficiency Treatment Consortium (PIDTC) report 2014
2014 Improving the safety of cell therapy products by suicide gene transfer. 2014
2013 DNA Damage Responses and Oxidative Stress in Dyskeratosis Congenita 2013
2013 The Natural History of Children with Severe Combined Immunodeficiency: Baseline Features of the First Fifty Patients of the Primary Immune Deficiency Treatment Consortium Prospective Study 6901 2013
2013 Outcomes of Allogeneic Hematopoietic cell transplantation in patients with Dyskeratosis Congenita 2013
2012 Toward a safer cure for low-risk Hodgkin lymphoma in children 2012
2012 Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the ikaros gene 2012
2012 Exogenous immunoglobulin downregulates T-cell receptor signaling and cytokine production 2012
2012 Dyskeratosis congenita dermal fibroblasts are defective in supporting the clonogenic growth of epidermal keratinocytes 2012
2012 Randomized Trial of Hydroxychloroquine for Newly Diagnosed Chronic Graft-versus-Host Disease in Children: A Children’s Oncology Group Study 2012
2011 Early and Late Extensive Chronic Graft-versus-Host Disease in Children Is Characterized by Different Th1/Th2 Cytokine Profiles: Findings of the Children's Oncology Group Study ASCT0031 2011
2011 Phase I study of tandem high-dose chemotherapy with autologous peripheral blood stem cell rescue for children with recurrent brain tumors: A pediatric blood and marrow transplant consortium study 2011
2011 Comparison of outcomes after transplantation of g-csf-stimulated bone marrow grafts versus bone marrow or peripheral blood grafts from hla-matched sibling donors for patients with severe aplastic anemia 2011
2011 ICA-17043-10 Study Investigators. Improvements in Haemolysis and Indicators of Erythrocyte Survival Do Not Correlate with Acute Vaso-Occlusive Crises in Patients with Sickle Cell Disease: A Phase III Randomized, Placebo-Controlled, Double-Blind Study of the Gardos Channel Blocker Senicapoc (ICA-17043). 2011
2011 The p53/p21WAF/CIP pathway mediates oxidative stress and senescence in dyskeratosis congenita cells with telomerase insufficiency 2011
2010 Anti-CD13 Abs in children with extensive chronic GVHD and their relation to soluble CD13 after allogeneic blood and marrow transplantation from a Children's Oncology Groups Study, ASCT0031 2010
2010 Evidence of receptor-mediated elimination of erythropoietin by analysis of erythropoietin receptor mRNA expression in bone marrow and erythropoietin clearance during anemia 2010
2010 Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients 2010
2010 Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or the telomerase RNA component, TERC 2010
2010 Idiopathic Thrombocytopenic Purpura in a Boy With Ataxia Telangiectasia on Immunoglobulin Replacement Therapy 2010
2010 Impaired T-cell receptor activation in IL-1 receptor- associated kinase-4-deficient patients 2010
2009 TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements 2009
2008 Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita 2008
2008 Biomarkers in newly diagnosed pediatric-extensive chronic graft-versus-host disease: A report from the Children's Oncology Group 2008
2007 Change in erythropoietin pharmacokinetics following hematopoietic transplantation 2007
2007 Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts 2007
2007 Altered Toll-Like Receptor 9 Responses in Circulating B Cells at the Onset of Extensive Chronic Graft-versus-Host Disease 2007
2007 Androgen and c-Kit receptors in desmoplastic small round cell tumors resistant to chemotherapy: Novel targets for therapy 2007
2007 Severe autoimmune hemolytic anemia after unrelated umbilical cord blood transplant for familial hemophagocytic lymphohistiocytosis: Significant improvement after treatment with rituximab 2007
2007 Emerging Targets for Hematopoietic Cell Transplantation (HCT): Genetic Disorders of Hematopoiesis and Immunity 2007
2006 Immune globulin IV therapy: Optimizing care of patients in the oncology setting 2006
2006 Intact T cell responses in ataxia telangiectasia 2006
2006 Chronic granulomatous disease presenting with disseminated intracranial aspergillosis 2006
2005 The effect of TERC haploinsufficiency on the inheritance of telomere length 2005
2005 Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome 2005
2005 Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8 2005
2005 Complete remission following clofarabine treatment in refractory juvenile myelomonocytic leukemia 2005
2005 Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita 2005
2005 Cardiac manifestations of graft-versus-host disease 2005
2004 The Chemotaxis Defect of Shwachman-Diamond Syndrome Leukocytes 2004
2003 Effect of in vivo lymphocyte-depleting strategies on development of lymphoproliferative disorders in children post allogeneic bone marrow transplantation 2003
2003 Protracted radiotherapy treatment duration in medulloblastoma 2003
2002 gp120-mediated induction of the MAPK cascade is dependent on the activation state of CD4+ lymphocytes 2002
2002 Aberrant T-cell antigen receptor-mediated responses in Autoimmune Lymphoproliferative Syndrome 2002
2002 Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome 2002
2001 The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita 2001
2000 Hydroxychloroquine inhibits calcium signals in T cells: A new mechanism to explain its immunomodulatory properties 2000
2000 Hydroxychloroquine for the Treatment of Chronic Graft-Versus-Host Disease 2000
2000 Poor outcome in children with refractory/relapsed leukemia undergoing bone marrow transplantation with mismatched family member donors 2000
1999 Treatment of therapy-refractory B-lineage acute lymphoblastic leukemia with an apoptosis-inducing CD19-directed tyrosine kinase inhibitor 1999
1999 Ten-year experience of unrelated bone marrow donor transplants in children with malignant and non-malignant conditions 1999
1999 Clinical pharmacokinetics of the CD19 receptor-directed tyrosine kinase inhibitor B43-genistein in patients with B-lineage lymphoid malignancies 1999
1998 Defective expression of p561ck in an infant with severe combined immunodeficiency 1998
1998 Bone marrow transplantation for relapsed acute lymphoblastic leukemia 1998
1998 Complete heart block in association with graft-versus-host disease 1998
1998 Removing T lymphocytes from bone marrow: present dangers and future benefits 1998
1997 Sequestration of p56lck by gp120, a Model for TCR Desensitization 1997
1997 Reconstruction of the immune system after unrelated or partially matched T-cell-depleted bone marrow transplantation in children: Functional analyses of lymphocytes and correlation with immunophenotypic recovery following transplantation 1997
1996 Lovastatin inhibits T-cell antigen receptor signaling independent of its effects on ras 1996
1996 Reconstruction of the immune system after unrelated or partially matched T-cell-depleted bone marrow transplantation in children: Immunophenotypic analysis and factors affecting the speed of recovery 1996
1994 The association between CD45 and LCK does not require CD4 or CD8 and is independent of T cell receptor stimulation 1994
1994 Restoration of CD2-mediated signaling by a chimeric membrane protein including the cytoplasmic sequence of CD45 1994
1994 gp120 Ligation of CD4 induces p56(lck) activation and TCR desensitization independent of TCR tyrosine phosphorylation 1994
1993 Rescue of signaling by a chimeric protein containing the cytoplasmic domain of CD45 1993

Research Overview

  • 1. CRISPR gene editing to cure Sickle Cell Disease:
    Using human hemabpoeiti stems as well as a murine model of Sickle Cell Disease (SCD). We are testing varying gene editing strategies that will be used in sickle cell disease autologous transplant.
    2. Dyskeratosis congenita (DC) and DNA damage repair responses:
    We have been using cells acquired from patients with DC and studying the interplay of oxidative stress, DNA damage response, and telomere shortening. Our goal is to identify regulators of oxidative stress as a means of halting the progression of the disease phenotype.
    3. Creation of patient-specific gene corrected hematopoietic stem cells using inducible pluripotent stem cell technology:
    We have several IRB approved protocols to study gene repair in diseases of hematopoiesis, including Sickle cell disease, Diamond Blackfan Anemia, Dyskeratosis congenita, and severe combined immune deficiency. iPS technology allows us to create cells for disease modeling as well as therapeutic intervention. These studies are carried out in collaboration with Tim Townes, PhD. Our goal is to create gene-corrected hematopoietic stem cells (HSC) that can be given back to patients, ameliorating their underlying disease and forgoing the need for an allogeneic bone marrow transplant.
    4. Molecular defects in immunodeficiencies.
    We have identified several patients with immune deficiencies lacking a genetic diagnosis. Using iPS technology and whole genome sequencing, we are identifying novel disease causing mutations in patients. Our goal is to have a confirmed genetic mutation on all patients with SCIDs, optimally prior to allogeneic bone marrow transplantation.
    5. Optimizing BMT in SCIDs:
    I am part of a collaborative with the PIDTC working to develop a protocol for reduced intensity preparation therapy for SCIDs, part of the CSIDE investigator team.
  • Principal Investigator On

  • Private Grant  awarded by JAZZ PHARMACEUTICALS, INC. 2018 - 2028
  • Primary Immune Deficiency Treatment Consortium  awarded by University of California, San Francisco 2019 - 2020
  • Primary Immune Deficiency Treatment Consortium  awarded by University of California, San Francisco 2016 - 2019
  • Private Grant  awarded by ASTELLAS PHARMA GLOBAL DEVELOPMENT, INC. - NEW 2017 - 2019
  • Generation of Suicide Gene Modified Anti-CD19 CAR Redirected T Cells  awarded by St. Baldrick's Foundation 2017 - 2019
  • Private Grant  awarded by JAZZ PHARMACEUTICALS, INC. 2017 - 2019
  • A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders/ PBMTC PIDTC #6901  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2014 - 2019
  • DNA Damage and Oxidative Stress in Dyskeratosis Congentia: Analysis of Pathways and Therapeutic Strategies Using CRISPR and iPSC Model Systems  awarded by DOD - ARMY MEDICAL RESEARCH ACQUISITION ACTIVITY 2015 - 2018
  • Production of T Cells from Human Inducible Pluripotent Stem Cells (hIPS) Expressing a Chimeric Antigen Receptor (CAR) Against Precursor-B Leukemia Cells  awarded by HYUNDAI HOPE ON WHEELS 2014 - 2016
  • DNA Damage Responses and Oxidative Stress in Dsykeratosis Congenita  awarded by KAUL PEDIATRIC RESEARCH INSTITUTE 2013 - 2015
  • Gene Therapy for Diamond Black Fan Anemia Using Induced Pluripotent Stem Cell Technology  awarded by KAUL PEDIATRIC RESEARCH INSTITUTE 2011 - 2015
  • Toward a Cure for DBA: Creation of Patient-Specific Gene Corrected Hematopoietic Stem Cells Using Inducible Pluriopotent Stem Cell Technology  awarded by DIAMOND BLACKFAN ANEMIA FOUNDATION, INC. 2012 - 2014
  • Private Grant  awarded by GENTIOM 2009 - 2013
  • Private Grant  awarded by CHIMERIX, INC. 2011 - 2013
  • Multi-Center, Open-Label, Randomized Trial Comparing Single Versus Double Umbilical Cord Blood (UCB) Transplantation in Pediatric Patients with High Risk Leukemia and Mylodysplasia BMT CTN Protocol #0501  awarded by NATIONAL CHILDHOOD CANCER FOUNDATION 2011 - 2013
  • A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders/ PBMTC PIDTC #6901  awarded by NATIONAL CHILDHOOD CANCER FOUNDATION 2010 - 2012
  • Private Grant  awarded by CHILDREN'S HOSPITAL (MINNESOTA) 2011 - 2012
  • Investigator On

  • COG PCR - Per Case Reimbursement NIH National Clinical Trials Network (NCTN) Grant (U10CA180886) Successor to NIH COG Chair Grant (U10CA098543)  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2019 - 2025
  • Identifying Predictors of Poor Health Related Quality of Life among Pediatric Hematopoietic Stem Cell Donors  awarded by National Marrow Donor Program 2019 - 2023
  • Reduced Intensity Conditioning for Haploidentical Bone Marrow Transplantation in Patients with Symptomatic Sickle Cell Disease, BMT CTN PROTOCOL #1507  awarded by National Marrow Donor Program 2017 - 2023
  • PBMTC Study No. 1701 "Eliminating Total Body Irradiation (TBI) for NGS-MRD Negative Children with B-ALL (Endrad) Trial"  awarded by CHILDREN'S HOSPITAL LA 2019 - 2022
  • Private Grant  awarded by BLUEBIRD BIO INC. 2019 - 2021
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2018 - 2020
  • Project EveryChild APEC14B1  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2017 - 2020
  • AALL1331: Risk-Stratified Randomized Phase III Testing of Blinatumomab (IND#100135, NSC#765986) in First Relapse of Childhood B-Lymphoblastic Leukemia (B-ALL)  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2015 - 2020
  • Acute GVHD Suppression using Co-Stimulation Blockage to Expand Non-Malignant Transplant (ASCENT)  awarded by Emory University 2018 - 2020
  • Per Case Reimbursement COG NCORP Research Base  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2019 - 2020
  • A Phase 3 Randomized Trial for Newly Diagnosed High Risk B-precursor Acute Lymphoblastic Leukemia (ALL) Testing Clofarabine (IND# 73789, NSC # 606869) in the Very High Risk Stratum  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2014 - 2020
  • St. Baldrick's Foundation Supplemental Reimbursement  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2018 - 2020
  • Per Case Reimbursement: COG NCORP Research Base  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2017 - 2019
  • Predictive Biomarkers of Pediatric Graft-Versus-Host Disease  awarded by Canadian Institutes of Health Research 2014 - 2019
  • AAML 1031 - Bayer  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2017 - 2019
  • COG PCR - Per Case Reimbursement NIH National Clinical Trials Network (NCTN) Grant (U10CA180886) Successor to NIH COG Chair Grant (U10CA098543)  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2018 - 2019
  • Project Everychild APEC14B1  awarded by CHILDREN'S ONCOLOGY GROUP 2015 - 2018
  • A Multicenter Safety Study of Unlicensed, Investigational Cryopreserved Cord Blood Units (CBUs) Manufactured by the National Cord Blood Program (NCBP) and Provided for Unrelated Hematopoietic Stem Cell Transplantation of Pediatric and Adult Patients  awarded by New York Blood Center 2013 - 2018
  • St. Baldricks Fdn Supplemental Reimbursement  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2012 - 2018
  • 11-TREO: A Phase II Study of Treosulfane/Fiudarabine/Low Dose Total Body Irradiation as a Preparative Regimen for Children with AMLIMDS Undergoing Allogeneic Hematopoietic Cell Transplantation  awarded by National Marrow Donor Program 2013 - 2017
  • CTSU: Phase II Supplemental Payments (N02-CM-62212)  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2012 - 2017
  • Prospective Multi-Center Cohort for the Evaluation of Biomarkers Predicting Risk of Complications and Mortality Following Allogeneic HCT  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2015
  • Reduced-Intensity Conditioning for Children and Adults with Hemaphagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI)  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2014 - 2015
  • Unrelated Donor Hematopoietic Cell Transplantation for Children with Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen / BMT CTN Protocol 0601  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2012 - 2015
  • BIQSFP-COG AALL1131 11XS189 Per Case Reimbursement  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2012 - 2015
  • Hematopoietic Stem Cell Therapy for Young Adults with Severe Sickle Cell Disease  awarded by Emory University 2014 - 2015
  • COG PCR - Per Case Reimbursement NIH National Clinical Trials Network (NCTN) Grant (U10CA180886) Successor to NIH COG Chair Grant (U10CA098543)  awarded by CHILDREN'S HOSPITAL (PHILADELPHIA) 2014 - 2015
  • Unrelated Donor Hematopoietic Cell Transplantation for Children with Severe Sickle Cell Disease Using a Reduced Intensity Conditioning Regimen / BMT CTN Protocol 601  awarded by NATIONAL CHILDHOOD CANCER FOUNDATION 2011 - 2014
  • The Role of Minimal Residual Disease Testing Before and After Hematopoietic Cell Transplantation for Pediatric Acute Myeloid Leukemia.  awarded by National Marrow Donor Program 2012 - 2014
  • Teaching Overview

  • UAB Graduate Biomedical Science Program, Phenotyping Human Disease course(2015-present)
    Pediatric Hematology/Oncology fellows teaching conferences, UAB (2009-present)
    Pediatric Hematology/Oncology fellows teaching conferences, U of Iowa (1995-2009)
    Present didactic lectures on areas related to bone marrow transplantation, immune deficiencies and bone marrow failure syndromes.

    Adult Hematology/Oncology fellows teaching conference (2015)
    Present lectures on pediatric bone marrow failure syndromes

    Pediatric BMT nurses (2009-present)
    Lectures consist of best clinical practices in BMT, and background on diseases for upcoming patients admissions.

    UAB Pediatric Tumor Board (2009-present)
    Morbidity and mortality case conferences related to BMT patients, done quarterly.
    Foundations for Clinical Practice: Personal and Professional Development (2001-2009)
    A teaching module for 1st year medical students at the University of Iowa that integrated ethics, history taking, and problem solving in a group setting.

    Pediatric Resident Orientation, University of Iowa (1995-2009)
    Responsible for didactic lectures on immune deficiencies, neutrophil disorders, BMT emergencies, aplastic anemia
  • Education And Training

  • Doctor of Medicine, Louisiana State University System : University of New Orleans 1985
  • Tulane University Hospital, Internship 1986
  • Tulane University Hospital, Residency 1988
  • University of Colorado Health Sciences Center, Postdoctoral Fellowship 1991
  • Full Name

  • Frederick Goldman
  • Fax

  • 205-975-1941