Fanconi Anemia Research Fund

Scientific Symposium Poster Presentations October 2004, Cambridge, Massachusetts
Apoptosis Bone Marrow Transplantation Clinical Series Complementation Group Diagnosis of Mosaicism DNA Damage Responses and Repair Experimental Therapeutics FA Protein Function Leukemogenesis and Carcinogenesis Miscellaneous Model Organisms and Systems

Apoptosis

Dufour, Carlo	G. Galini Children's Hospital, Genova, Italy	TRAIL Receptors are Expressed on FANCA and FANCC cell lines and TRAIL and TRAIL R 1 are up-modulated by TNF-α in FANCA cell lines.
Fagerlie, Sara	Fred Hutchinson Cancer Center, Seattle	FANCC-/- Lymphocytes Fail to Properly Support Normal Hematopoiesis
Pagano, Giovanni	Italian National Cancer Institute, Naples, Italy	Specific Features of the Prooxidant State in FA Patients vs. Patients with Other Genetic Disorders
Pang, Qishen	Cincinnati Children's Hospital Medical Center	Reoxygenation Induces Excessive DNA Damage in FA Hematopoietic Progenitor/Stem Cells

Bone Marrow Transplantation

Buzzell, Kristen	Department of Pediatrics, University of Minnesota	Bone Mineral Density and Turnover after Hematopoietic Stem Cell Transplantation in Children with FA or Malignancy
Ferrara, Mara	Department of Pediatrics, II University, Naples, Italy	Coccidioidomycosis following Bone Marrow Transplant in FA Patient
Gangopadhyay, Nupur	Division of Thoracic Surgery, U. of Pittsburgh Cancer Institute, Pittsburgh	Facilitation of Allogeneic Hematopoietic Stem Cell Engraftment in Young Mouse by Utilizing CD8+ Lymphoid Progenitor Cells
Gerson, Stan	Case Western Reserve, Cleveland	Hematopoietic Stem Cells of DNA-PK Defective Scid Mice have a Transplant Repopulation Defect
Gluckman, Eliane	Hospital St. Louis, Paris	Results of Unrelated Cord Blood Transplants in Fanconi Anemia
Korthof, Elilsabeth	Leiden University, Leiden, The Netherlands	Haploidentical Peripheral Blood Stem Cell Transplantation for Severe Aplastic Anemia in FA
O'Donnell, Paul	Fred Hutchinson Cancer Center, Seattle	Nonmyeloablative Hematopoietic Cell Transplantation of Advanced Hematologic Malignancies Using Haploidentical Donors
Pasquini, Ricardo	Hospital de Clinicas, Curitiba, Brazil	Unrelated Donor Stem Cell Transplantation for FA: The Experience from Curitiba, Brazil in 33 Patients
Pasquini, Ricardo	Hospital de Clinicas, Curitiba, Brazil	Lymphoproliferative Disease Following Unrelated Donor-Umbilical Cord Blood Transplantation in FA Patient
Yabe, Miharu	Specialized Clinical Science, Pediatrics, Tokai University, Isehara, Japan	Clinical and Therapeutic Aspects of Bone Marrow Transplantation for Japanese FA Patients by Chromosomal Fragility Test

Clinical Series

Uysal, Zumrut	Ankara University School of Medicine, Ankara, Turkey	Fanconi Aplastic Anemia: 24 Years Follow Up in a Single Center
Valverde, Kathia	Department of Hematology, Hospital Nacional de Ninos, San Jose, Costa Rica	FA in a Developing Country: Costa Rica. First Report of Central America

Complementation Group

Callen, Elsa	Universitat Autonoma de Barcelona, Barcelona	A Common Founder Mutation in FANCA Underlies the World's Highest Prevalence of FA in Gypsy Families from Spain
Rischewski, Johannes	University of Basel, Switzerland	Detection of Large Heterozygous Genomic Deletions in the FANCA Gene by a Novel HPLC-based Semiquantitative Method

Diagnosis of Mosaicism

Akkari, Yasmine	Oregon Health & Science	Somatic Mosaicism in FA: Investigation of the Dynamics of Phenotype Correction
Alter, Blanche	National Cancer Institute	Chromosome Breakage Analyses in the NCI Inherited Bone Marrow Failure Syndrome Patients
Auerbach, Arleen	The Rockefeller University	A 25-Year Perspective of the DEB Test for FA: Correction of Mosaicism with Clinical Outcome
Olson, Susan	Oregon Health & Science	Clinical Follow-up on 1060 Patients Tested for FA Using a Two-Clastogen System

DNA Damage Responses and Repair

Campbell, Colin	Department of Pharmacology, University of Minnesota	V(D)J Recombination in FA Cells: The Rad50 Protein Controls the Precision of Immunoglobin Rearrangement
Godthelp, Barbara	Leiden University, Leiden, The Netherlands	FANCD1/BRCA2 Deficient Cells are Not X-ray Sensitive but Display Radioresistant DNA Synthesis and Have Normal SCE Formation
Hinz, John	Lawrence Livermore National Laboratory	Decreased Spontaneous and Induced HPRT Mutations in FancG-deficient CHO Cells
Lambert, Clark	New Jersey Medical School	Xeroderma Pigmentosum as a Model for the Effect of Cell Cycle Modulation in FA
Nakanishi, Koji	Memorial Sloan-Kettering Cancer Institute	Human Fanconi Anemia Monoubiquitination Pathway Promotes Homologous DNA Repair at an Early Step
Newell, Amy	Oregon Health & Science	RAD51-Mediated Recombination is Not Responsible for the Process of Radial Formation in FA Cells
Olsen, Anna	Cancer Research UK Laboratories, Oxford, UK	The Relationship between Cross-Link Processing by NER and the Activation of the FANC Pathway

Experimental Therapeutics

Essner, Jeffrey	Discovery Genomics, Minneapolis	Long-term Gene Expression and Phenotypic Correction of FANCC Deficient Lymphoblastoid Cells Using the Sleeping Beauty Transposon Vector
Kiem, Hans-Peter	Fred Hutchinson Cancer Center, Seattle	Molecular Long-Term Follow-Up in Nonhuman Primates that Received Retrovirally Transduced Stem Cells: Despite Proto-Oncogene Insertion, No Leukemia or Hematopoietic Abnormalities

FA Protein Function

Bucheimer, Natalie	University of Virginia	The FA Core Complex Binds RNA
Bueren, Juan	Gene Therapy Program, CIEMAT, Madrid	DNA Damage and Sensitivity of FA Hematopoietic Cells Exposed to Ionizing Radiation
Carreau, Madeleine	Laval University, Quebec	FANCC Proteolytic Fragments Interact with the FA Core Complex
DeMuth, Ilja	Molecular Genetics Program, University of Washington	Depletion of hSNM1B (siRNA) Results in an FA-like Cellular Phenotype
Franco, Sonia	Children's Hospital, Boston	Telomere Dynamics in Fancg-deficient Mouse and Human Cells
Leveille, France	Free University, Amsterdam	Functional Characterization of the FA Proteins FANCE and FANCF
Ling, Chen	National Institute on Aging	Evidence That FAAP100 is an Essential Component of the FA Core Complex
Mi, Jun	University of Virginia	Stimulation of FANCA and FANCG Phosphorylation
Nahas, Shareef	UCLA School of Medicine, Los Angeles	SMC1 Phosphorylation is Independent of the Fanconi Protein Complex
Stone, Stacy	Oregon Health & Science	Xenopus FANCG Contains Highly Conserved Domains and is Subject to Alternative Splicing during the Earliest Stages of Vertebrate Development
Wang, XiaoZhe	Dana-Farber Cancer Institute	Functional Interaction of Monoubiquitinated FANCD2 and BRCA2/FANCD1 in Chromatin

Leukemogenesis and Carcinogenesis

Arthur, Diane	National Cancer Institute	Significance of Abnormal Marrow Karyotypes in Patients with FA
Barlow, Rosemary	Cancer Immunogenetics Laboratory, Manchester, UK	No Major Role for Heterozygous FANCD1/BRCA2 IVS7 Splice Site Mutations in Sporadic Childhood AML
Ben-Porat, Leah	Memorial Sloan-Kettering Cancer Institute	Analysis of First Adverse Outcome in Patients from the International FA Registry
Chen, Fei	Free University, Amsterdam	Apparent Absence of BRCA2 Protein in a Proportion of Acute Myeloid Leukaemia Cell Lines
Harris, Rick	Cincinnati Children's Hospital Medical Center	Retrospective Cytogenetic Analyses in FA Patients Evaluated at Cincinnati Children's Hospital Medical Center
Houghtaling, Scott	Oregon Health & Science	Heterozygosity for p53 (Trp53-/+) Accelerates the Tumor Phenotype of FA Complementation Group D2 (Fancd2) Knockout Mice
Meyer, Stefan	University of Manchester, Manchester, UK	A Cross-Linker Sensitive Myeloid Leukaemia Cell Line from a 2-year-old Boy with Severe FA and Bi-allelic FANCD1/BRCA2 Mutations
Sheth, Frenny	Foundation for Research in Genetics and Endocrinology, Genetics Centre, Ahemadabad, India	Conventional Cytogenetics is Still the Founder Pillar in the Diagnosis of Leukemia
Tonnies, Holger	Institute of Human Genetics, Berlin, Germany	Establishment of an Automated Scanning System for the High-Throughput FA-Specific Interphase FISH-Assay Sensitively Detecting MDS- and AML- Associated Chromosomal Imbalances in Interphase Cells
Van Zeeburg, Hester	Department of Otolaryngology, Free University, Amsterdam	Comparison between FA HNSCC and Sporadic HNSCC; Generation and Characterization of Cell Lines
White, Daniel	Cancer Immunogenetics Laboratory, Manchester, UK	Rapid Screening of the FANCE Gene in Childhood Sporadic Acute Myeloid Leukaemia Using a MetaPCR Based Methodology

Miscellaneous

Carr, Ann	National Cancer Institute	Genetic Education and Counseling for FA: The NCI Strategy
Doro, Maribel	Federal University of Parana, Curitiba, Brazil	Neuropsychological Evaluation of FA Children
Giri, Neelam	National Cancer Institute	Fanconi's Anemia - Endocrinopathies in Association with Structural Central Nervous System Malformations

Model Organisms and Systems

Hammer, Luke	University of Minnesota	Human Embryonic Stem Cells Deficient in FANCA
McCabe, Kevin	Oregon Health & Science	Characterization of Drosophila fancd2
Zdzienicka, Margaret	Leiden University, Leiden, The Netherlands	Hamster XRCC11/Brca2-Deficient Mutant can be Used as a Model to Examine Phenotypic Effects of Brca2 Heterozygosity

Fanconi Anemia Research Fund, Inc. Fanconi Anemia Research Fund, Inc.

Yabe, Miharu

Uysal, Zumrut

Valverde, Kathia

Alter, Blanche

Olson, Susan

Campbell, Colin

Hinz, John

Lambert, Clark

Nakanishi, Koji

Newell, Amy

White, Daniel