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Supported Research

2017

Investigator: Jacob E. Corn, PhD, University of California Berkeley
Title: Defining tractable approaches for gene editing of Fanconi Anemia hematopoietic stem cells
Project Summary: My lab has developed a rapid and efficacious Cas9-based approach to introduce programmed sequence changes to human cells with ease. This work takes advantage of our discovery that Cas9 is extremely long-lived on its target DNA, yet releases a flap of single stranded DNA after cleavage. By using Cas9 ribonucleoprotein complexes (RNPs) and programming single stranded oligonucleotide donors (ssODNs) to anneal to the released flap, we have been able to achieve up to 60% allele replacement in a wide  variety of cell types. Building upon this initial discovery, we have further demonstrated highly effective replacement of SNPs in human hematopoietic stem cells (HSCs). Targeting the causative mutation of sickle cell anemia in HSCs, we can swap sequences at up to ~40% of alleles, with concordant benefit for the production of wild type hemoglobin over sickle hemoglobin.

Our approach could be promising for the treatment of other hematopoietic disorders, including Fanconi Anemia. However, recent work unpublished work in my lab has surprisingly revealed that interstrand crosslink repair may underlie Cas9-mediated sequence replacement using ssODNs. In fact, our data indicates that knocking down one of several FA complement groups completely abolishes editing when using ssODNs. We hypothesize that this is due to how cells recognize and process ssODN templates during Cas9-induced HDR and has major implications for the potential treatment of FA by genome editing, since it could suggest that certain editing modalities will be far more efficacious than others.

We propose to define editing modalities that will be efficacious in the cells of FA patients. We will determine whether FA mutations are truly inimical to ssODN-mediated HDR and determine alternate editing strategies in cell lines. We apply these alternate strategies in immortalized human progenitor cells as well as adult mobilized hematopoietic stem cells.

Investigators: Peter M. Glazer, MD, PhD and Gary M. Kupfer, MD, Yale University
Title: Use of triplex-forming PNAs as a strategy for correction of the FA phenotype
Project Summary: As a monogenic blood disorder with potential survival disadvantage, Fanconi anemia has long been considered an attractive target for conventional gene therapy but success has been elusive. Consequently, there has been increasing interest in developing techniques to catalyze correction of the disease-causing mutation at the cognate site by homologous recombination (HR). By achieving gene correction rather than gene addition, the deleterious effects of random integration can be avoided.

Towards this end, engineered zinc finger nucleases (ZFNs), CRISPR/Cas9, and other targeted nucleases have shown promise and some have entered clinical trials. Recent developments have put CRISPR/Cas9 technology in the forefront because of its ease of use and facile reagent design. However, studies have shown that such nucleases exhibit frequent off-target effects because the nuclease activity of the molecules cannot be completely restricted to the intended sites. Although substantial effort is being directed toward reducing off-target nuclease effects, this is one area in which triplex-forming PNAs (TFPs), which have no intrinsic nuclease activity and simply trigger the cells’ own repair activity when they bind tightly to their target site, may offer an advantage.

We have developed active TFPs for targeted beta globin gene editing. Recent results demonstrate that PNAs and donor DNAs delivered intravenously (IV) via PLGA nanoparticles (NPs) can mediate gene editing in vivo at a level sufficient to ameliorate the disease phenotype in thalassemic mice. We observed sustained reversal of the anemia, with normalization of blood hemoglobin concentrations and suppression of the reticulocytosis. We also noticed a morphologic improvement in RBC cytology, indicative of improved RBC stability, along with reduced extramedullary hematopoiesis and reduction in splenomegaly. This constellation of findings suggests that our therapeutic approach has the potential to deliver a significant clinical response that would relieve the morbidity and mortality associated with hematologic disorders like β-thalassemia and SCD. It is the goal of this proposal to apply this approach to Fanconi anemia.

Investigators: Eunike Velleuer, MD, Heinrich-Heine University, Duesseldorf; Ralf Dietrich, Deutsche Fanconi Anaemie Hilfe
Title: Reducing the burden of squamous cell carcinoma in Fanconi anemia
Project Summary: Eighty percent of FA patients survive beyond age 20, carry a high risk for squamous cell carcinoma (SCC) of the oropharyngeal and anogenital regions connected with high morbidity and mortality. In addition to intrinsic genetic instability, HSCT and a number of other factors contribute to the pathogenesis of SCC. It is unclear whether external risk factors for FA SCC are similar to or distinct from risk factors for the general population. The aggressive nature of these tumors mandates early surgical intervention and radiotherapy. In a pilot study of 466 patients, we evaluated the feasibility of replacing traditional invasive biopsy by non-invasive brush biopsy, followed by conventional cytology and/or DNA cytometry. Based on the experience and results of our pilot study, we propose a longitudinal screen of an international FA cohort for the early detection and follow up of head and neck cancer employing soft brush biopsy combined with cytology, DNA cytometry and LOH analysis. Included in these studies will be a questionnaire which correlates disease progression with exposure to environmental risk factors such as oral hygiene, alcohol and tobacco exposure. Cancer tissue from those diagnosed in the screen will be provided for basic and translational research in FA. Ultimate goal of the proposed study is improvement of early detection, timely diagnosis, individualized treatment, and understanding of pathogenesis and prognosis of SCC arising in the context of FA.

Investigators: Wei Tong, PhD & Joel Greenberger, MD, PhD, The Children's Hospital of Philadelphia
Title: Targeting LNK(SH2B3) to ameliorate hematopoietic stem/progenitor defects in Fanconi Anemia.
Project Summary: Dr. Tong recently discovered a novel gene called “LNK” that regulates bone marrow cell survival and growth. She found that loss of LNK in a mouse model of FA restores normal bone marrow functions and increases stem cell longevity. This new grant will allow Dr. Tong to explore the mechanisms underlying this important discovery and to develop new strategies to inhibit LNK to improve bone marrow function in Fanconi anemia. This work will also advance efforts to correct Fanconi mutations by gene therapy.

2016

Investigators: Andrew Deans, PhD & Wayne Crismani, PhD, St. Vincent’s Institute-Australia
Title: Detection and characterization of ubiquitinated FANCD2 and FANCI.
Project Summary: Fanconi anemia is caused by mutations in number of genes involved in DNA repair. Two key players are genes called FANCD2 and FANCI. These genes serve as central regulators of the Fanconi DNA repair pathway. Dr. Deans and others have shown that regulation occurs through the addition or removal of a molecule called ubiquitin. In this project, Dr. Deans and his team will develop an antibody that detects ubiquitinated FANCD2 and thus tell us when the Fanconi pathway functions normally. This new antibody will facilitate the development of quick assays to diagnose Fanconi anemia. Dr. Deans will also explore how ubiquitinated FANCD2 interacts with DNA damage and communicates with other Fanconi gene products.

Investigators: Josephine Dorsman, PhD & Patrick May, PhD, VU Medical Center-Netherlands
Title: Towards improved clinical management of FA-related cancer via a novel functional genomics approach.
Project Summary: This project seeks to identify cellular pathways that could be targeted to treat or prevent cancer in FA. The investigators take a novel approach using a high-resolution CRISPR knockout library to screen for fitness genes and FANCA-specific cancer vulnerabilities. They will take advantage of their one-of-a-kind cell lines derived from primary human tumor specimens taken from FA patients. They will also screen for genes that affect oxygen-tolerance, hoping to identify candidate targets for chemoprevention in FANCA-mutant cells. The investigators propose that this state-of-the-art approach will reveal oncogenic drivers specific for tumor cells and that this information can be further exploited to identify drug targets for FA-associated tumors.

Investigators: Blanche Alter, MD, MPH & Philip S. Rosenberg, PhD, National Cancer Institute
Title: Cancer in Heterozygote Carriers of Fanconi Anemia
Project Summary: Fanconi anemia increases the risk of cancer as individuals’ age. This is likely due to defects in the Fanconi DNA repair pathway that lead to the formation of rare cancer-causing mutations. Fanconi anemia individuals are defective in both copies of a Fanconi gene (one from mom and one from dad) and thus are fully defective in Fanconi DNA repair. However, their parents are also partially defective (50%) because each parent carries one defective copy of the Fanconi gene. Dr. Alter hypothesizes that FA parents may also have a small increased risk of cancer as they age. This new grant will allow Dr. Alter and her team to study almost 600 FA relatives (siblings, parents, grandparents) to determine their cancer risk. If there is an increased risk, these studies will bring awareness to FA families and improve strategies for cancer prevention and early detection.

Investigator: Blanche Alter, MD, MPH, National Cancer Institute
Title: A Training Grant for Development of a Fanconi Anemia Cohort in Mexico.
Project Summary: This is a training grant for a medical geneticist from Mexico City, who will develop a registry and subsequently a cohort of patients with FA who reside in Mexico. The project addresses one of the research priorities of the FARF: “to support the creation of shared resources, databases, and technologies for the international FA research community”. The trainee will spend 2 years as a fellow in the Clinical Genetics Branch of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute (NCI) under the mentorship of Dr. Alter and her colleague Dr. Philip Rosenberg. The trainee will observe the operations at the NCI and will adapt the NCI structure, questionnaires, and survey instruments for use in Mexico. Training will involve an updated analysis of the NCI FA cohort data (last analyzed in 2008) and assessment of cancer types and risks in FA patients and their relatives.

Investigator: Anna Kajaste-Rudnitski, PhD, San Raffaele Telethon Institute for Gene Therapy (TIGET)
Title: Investigating the impact of lentiviral transduction on Fanconi anemia hematopoietic stem cells for improved gene therapy.
Project Summary: Many have proposed that lentiviral vector (LV)-mediated hematopoietic stem cell (HSC) gene therapy may constitute a new safe and efficient approach for the treatment/prevention of the bone marrow failure (BMF) characteristic of FA patients. To further improve the possibilities of developing a safe and efficient gene therapy protocol in FA patients, this collaborative project aims to explore in FA HSCs the relevance of observations showing that the LV itself activates DNA damage and apoptosis-related signaling pathways in HSCs from healthy donors. Because these pathways are already compromised in FA cells, the impact of LV-mediated signaling could be more severe in FA HSCs. Therefore, this projects aims to carefully investigate the short and long-term functional consequences of the LV-mediated signaling in FA HSCs, with the final goal to design safer and more efficient gene therapy protocols to guarantee the best possible therapeutic outcome for FA patients in the future.

Investigator: Harvey Lodish, PhD, Whitehead Institute for Biomedical Research
Title: How environment shapes the consequences of mutation within the Fanconi anemia pathway.
Project Summary: It has long been recognized that gene-environment interactions influence the clinical course of individuals with FA, yet the underlying mechanisms remain elusive. Drawing on this labs deep expertise in protein folding diseases this project proposes a pragmatic approach to address this issue which can directly impact FA patients. This work will seek to identify small molecules that can protect FA pathway integrity from environmental perturbations and represent promising leads for slowing disease progression. In addition, this project will identify harmful environmental factors and those FA mutants most susceptible to them, allowing stratification of FA patients based on their susceptibility to environmental stress. Achieving these aims will provide unprecedented insight into the molecular underpinnings that shape the FA phenotype. In turn, such insight will enable the refinement of diagnostic tools to guide more precise, more effective management of each individual patient.

Investigator: Jordi Surrallés, PhD, University Autonoma, Barcelona
Title: Drug screening and repurposing in Fanconi anemia therapeutics (acronym: REPAIR-FANC).
Project Summary: In the field of rare diseases it is extremely difficult to perform clinical trials with new chemical entities without prior information on bioavailability, dose and safety in humans. Drug repurposing is the application of known drugs and compounds to new indications. Thus, the aim of this project is to repurpose existing medicines to treat Fanconi anemia. This long term effort implies the development and use of disease-specific cell based systems to screen beneficial effects of known drugs.

Investigator: Susanne Wells, PhD, Cincinnati Children's Hospital Medical Center
Title: Targeting lipid metabolism in FA for the prevention and treatment of squamous cell carcinoma.
Project Summary: Dry and moist skin (e.g., in the mouth) plays a critical role in maintaining a barrier against environmental insults and cancer. Based on new data, this team believes that individuals with FA may have an impaired barrier and this may be why they are at risk for SCC. Specifically, data shows that FA pathway loss impairs adhesion between skin cells. FA pathway loss also stimulates motility in cells that would otherwise be stationary; this is particularly interesting, given that cancer cells have reduced attachments to their environment and tend to be highly motile. Moreover, the link between the FA pathway and changes in the skin may be due to altered lipid levels and Rac1 signaling. Fortunately, it is possible to restore lipid levels and signaling to normal with existing drugs and in this proposal it will be determined if this can normalize skin architecture to prevent and treat FA SCC.

2015

Investigators: Eunike Velleuer, MD, Heinrich-Heine University, Düsseldorf, Germany; Ralph Dietrich, German Fanconi Anemia Family Support Group and Research Fund
Title: Reducing the burden of squamous cell carcinoma in Fanconi anemia
Lay abstract: Today 80% of FA patients survive beyond age 20, carrying a high risk for SCC of the oropharyngeal and anogenital regions connected with high morbidity and mortality. In addition to intrinsic genetic instability, HSCT and a number of other factors contribute to the pathogenesis of SCC. It is unclear whether external risk factors for FA SCC are similar to or distinct from risk factors for the general population. The aggressive nature of these tumors mandates early surgical intervention and radiotherapy. In a pilot study of 466 patients, Dr. Velleuer and Mr. Dietrich evaluated the feasibility of replacing traditional invasive biopsy by non-invasive brush biopsy, followed by conventional cytology and/or DNA cytometry. Based on the experience and results of our pilot study, they propose a longitudinal screen of an international FA cohort for the early detection and follow up of head and neck cancer employing soft brush biopsy combined with cytology, DNA cytometry and LOH analysis. Included in these studies will be a questionnaire which correlates disease progression with exposure to environmental risk factors such as oral hygiene, alcohol and tobacco exposure. Cancer tissue from those diagnosed in the screen will be provided for basic and translational research in FA. The ultimate goal of the proposed study is improvement of early detection, timely diagnosis, individualized treatment, and understanding of pathogenesis and prognosis of SCC arising in the context of FA.

Investigator: Markus Grompe, MD, Oregon Health & Science University
Title: Bridge Funding for Metformin Studies
Lay Abstract: In the past funding period of the OHSU Fanconi Anemia Program Project we succeeded in discovering new drug targets and small molecules for FA therapy. All of these candidates have clinical potential and we are on the threshold of new interventions for this severe disease. The key goal of the project in the next funding period is to prioritize a single drug regimen from our small list of candidates and to generate the preclinical data needed for starting a clinical trial soon.This Program Project will use a multidisciplinary approach to achieve this goal. The clinical disciplines represented include pediatrics, hematology, oncology and medical genetics. The scientific areas of expertise include molecular hematology, xenotransplantation, DNA repair, cell biology and mouse genetics. Project 1 (Grompe Lab at OHSU) will explore drugs that have already shown promise in FA mouse models such as metformin, p38 MAPK inhibitors, antioxidants and androgens, both singly and in combination.  Project 2 (D'Andrea Lab at Harvard) will focus on inhibitors of the TGF-  pathway for the treatment of FA. This is a new class of medications being tested by multiple pharmaceutical companies to treat inflammatory diseases. We have found that these medicines can significantly improve blood formation in FA. Project 3 (Shimamura Lab at Harvard) will use primary human cells from FA patients (bone marrow specimens) to study the compounds from projects 1 and 2. In addition, the regulatory groundwork for a clinical trial will be done. These scientific projects will be supported by technical cores which can provide expertise in DNA repair, human patient specimen procurement and testing human bone marrow cells in living mice. Drugs may be developed from this work that help improve blood counts in individuals with different bone marrow failure disorders, including leukemia and aplastic anemia.

Investigator: Nicholas T. Woods, PhD, Eppley Institute for Research in Cancer; University of Nebraska Medical Center
Title: Deciphering the endocrine-specific role of FA proteins in pancreas
Lay Abstract: Since many FA patients also suffer from diabetes and insulin resistance, the research proposed in this application is designed to determine the function of Fanconi anemia proteins in the endocrine pancreas. This study will analyze the dynamic features of FA protein expression and response to glucose in purified human islets from donors and evaluate impaired expression on hormone secretion. Additionally, a comprehensive quantitative proteomics analysis of FA interacting proteins by mass spectrometry will delineate the "normal" molecular pathways by which FA proteins prevent diabetes and insulin resistance. Understanding these alternative pathways could lead to precision treatments in FA patients that help prevent or treat these endocrinopathies with the goals of diminishing adverse responses to hematopoietic cell transplant and improving their lives. Research my lead to new treatments for diabetes in both the FA and general population.

Investigators: Ashley Kamimae-Lanning, PhD; Ketan Patel, MD, PhD MRC Laboratory of Molecular Biology
Title: The Role of Aldehydes in Fanconi Anemia Oral Squamous Cell Carcinoma
Lay Abstract: Fanconi anemia (FA) patients are at high risk of developing head and neck cancer and have limited  options  for  treatment  due  to  their  sensitivity  to  chemotherapy  and  radiation.  We  have  recently  found  that  FA  model  mice  with  mutations  in  certain  aldehyde  detoxifying enzymes  (ALDH2,  ADH5)  develop  oral  tumors  after  exposure  to  alcohol.  However,  these  mice  are  highly  susceptible  to  bone  marrow  failure  and  leukemia,  suggesting  that modification to create a tissue‐specific inactivation of one of the alleles will allow use of the mouse to model FA‐associated oral squamous cell carcinoma (OSCC) whilst precluding loss of animals to hematopoietic defects. This would address the lack of OSCC animal models in the  FA  field,  allowing  in  vivo  research  into  carcinogenesis  and  treatment  without  the  confounding  factors  of  species  mismatch  and  immunodeficiency  in  xenograft  models,  or genetic  bias  toward  a  cellular  pathway  not  directly  related  to  DNA  crosslinking  and  FA  pathway‐mediated repair.  This research will help to discern why alcohol and other envronmental toxins increase cancer risk.

Investigator: Ian Mackenzie, BDS, FDSRCS, PHD Queen Mary University of London
Title: The effects of loss of Fanconi gene function on the behavior and therapeutic responses of head and neck cancers
Lay Abstract: In an attempt to explain the high frequency of head and neck cancers in FA patients we have examined  differences  in  the  behaviour  and  signaling  pathways  of  oral  epithelial cells (cells that line the oral cavity) lacking Fanconi gene function. Experimental reduction of expression of FA-­‐A and FA-­‐C genes in oral epithelial cells results, as expected, in reduced growth, lower survival, and  greater  sensitivity  to  DNA  damage.  However,  there  is  also  a  surprisingly  wide  and  consistent  range  of  further  changes  that  do  not  appear  to  be  explained  as  a  direct consequence of lack of DNA repair. Two of the most interesting changes are (a) the greater tendency of such cells to enter an epithelial-­‐mesenchymal transition (EMT), producing cells that  are  more  invasive  and  therapy  resistant,  and  (b)  reduced  expression  of  Aldh  enzymes  that  are  associated  with  detoxification  of  aldehydes  and  function  in  normal  cells  to  reduce DNA damage.  This research will also help to discern why alcohol and other envronmental toxins increase cancer risk.

Investigator: Rui Yu, PhD University of North Carolina
Title: Identifying the nature of the endogenous aldehydes-induced DNA damage that Fanconi anemia DNA repair pathways counteract
Lay Abstract: All living cells form formaldehyde and acetaldehyde through normal metabolism (also from food and alcohol consumption). However, these aldehydes also induce severe DNA damage, which must be tolerated or repaired to prevent diseases. Currently, ~1 billion people in the world have difficulty in detoxifying aldehydes. Various studies have shown that bone marrow failure (BMF) and leukemia are prominent diseases of Fanconi anemia (FA) patients, due to reduced tolerance and repair of aldehyde-induced DNA damage. Nonetheless, the specific types of DNA damage [DNA base damage and DNA-protein crosslinks (DPCs)] that counteracted by the FA DNA repair pathway are poorly understood. Lack of such knowledge is a critical problem that limits our understanding of the mechanism of BMF and leukemia caused by DNA damage, and compromises our ability to effectively prevent and treat such diseases. The short-term goal of this project is to identify and promote our understanding of the specific type(s) of aldehyde-induced DNA damage that the intact FA DNA repair pathways can repair. Although challenging, we have developed unique ultra-sensitive quantitative assays (unavailable elsewhere) for measuring specific types of DNA damage induced by aldehydes. Other methods available are unable to distinguish specific DNA damage products. Based on our strong preliminary data, we hypothesize that DPCs will be repaired under the intact FA DNA repair pathways. Our long-term goal is to find out which specific aldehyde is most toxic and how DNA damage can be prevented, repaired, and cured. The results of our study will define the nature of DNA damage and lead to the identification of novel therapies and new drugs for managing BMF and leukemia. The work performed here may lead to identification of drugs to help prevent cancer and bone marrow failure in individuals that have mutations in aldehyde processing genes (greater than 1 billion in the world).

Investigator: William Fleming, MD, PhD; Markus Grompe, MD Oregon Health & Science University
Title: A Porcine Model of Fanconi Anemia
Lay Abstract: A major limitation in FA research is the absence of an animal model that faithfully recapitulates the clinical features of this disease in humans. While mice have the characteristic DNA repair defects, they do not spontaneously develop the progressive anemia or acute leukemia seen in many patients. It is thought that the short lifespan of mice provides insufficient time for the development of the progressive bone marrow failure observed in patients. This proposal is potentially very significant as it will create the first large animal model of FA. Based on the remarkable success of the pig model of cystic fibrosis, it is anticipated that our proposed  FANCA deficient pig will serve as an excellent model for studying FA disease progression and even more importantly, as a pre-clinical platform to test novel therapies.   The research here will develop an animal model of cancers that occur due to mutations in FA genes, including five different breast cancer genes. The animal model can then be used to test the ability of differernt drugs to prevent tumor formation.

2014

Investigator: Toshiyasu Taniguchi, MD, PhD, Fred Hutchinson Cancer Research Center
Title: Phosphatases that regulate the Fanconi anemia pathway

Investigator: Yigal Dror, MD, Hospital for Sick Kids, Toronto, Canada
Title: A prospective phase I/II study to evaluate the cysteine and glutathione prodrug N-acetylcysteine for safety and amelioration of DNA damage, oxidative stress, and hematological anomalies in patients with Fanconi anemia

Investigator: Henri van de Vrugt, PhD, Dutch Cancer Society, Amsterdam, Netherlands
Title: Correcting Fanconi anemia mutations by CRISPR/Cas9 genome editing to explore a novel therapeutic strategy

Investigator: Agata Smogorzewska, MD, PhD, Rockefeller University
Title: Clinical Investigation of Factors Affecting the Development and Outcomes of Squamous Cell Carcinoma in Fanconi Anemia Patients

Investigator: Robert Sclafani, PhD, University of Colorado Denver
Title: Potential Therapeutic Use of Resveratrol for Head and Neck Carcinogenesis in Fanconi Anemia (supplement)

Investigator: Andrew J. Deans, PhD,  Genome Stability Unit, St Vincent’s Institute for Medical Research, Fitzroy, Australia
Title: A biochemical system for testing the function of unclassified FANC protein variants

2013

Investigator: Alan D’Andrea, MD, Dana-Farber Cancer Institute/Harvard University, Boston
Title: Novel therapeutic agents for the treatment of bone marrow failure in Fanconi anemia

Investigator: Ian Mackenzie BDS, FDSRCS, PhD, University of London, London
Title: The effects of loss of Fanconi gene function on the behavior and therapeutic responses of head and neck cancers

Investigator: Jason Taylor, MD, PhD, Oregon Health & Science University, Portland, Oregon
Title: HPV-associated immune defects in Fanconi anemia

Investigator: Flavia Teles, DDS, MS, DMSc, The Forsyth Institute, Cambridge, Mass.
Title: Identification of microbial and host-derived determinants of oral carcinogenesis in Fanconi Anemia

Investigators:  Michael Garbati, PhD, and Grover Bagby, MD, Oregon Health & Science University, Portland, Oregon
Title: The Role of Aldehyde Dehydrogenases in Protecting Fanconi Anemia Hematopoietic Stem Cells During the Inflammatory Response

Investigators:  Ashwin Shinde, medical student, and Joel Greenberger, MD, University of Pittsburgh Cancer Institute, Pennsylvania
Title: Protection with JP4-039 of Normal Oral Cavity and Oropharyngeal Tissue During Radiotherapy of Cancer in Fanconi Anemia D2-/- and HPV+ K14E7 FancD2-/- Mice

Investigator: Elizabeth Eklund, MD, Northwestern University, Chicago, Illinois
Title: Impaired Emergency Granulopoiesis in FA leads to Immuno-deficiency and Predisposes to Acute Myeloid Leukemia (Year Three)

2012

Berhane, Hebist and Greenberger, Joel, MD, University of Pittsburgh, Pittsburgh, Pennsylvania, GS-Nitroxide (JP4-039)/F15 Liposome Oral Radioprotective Therapy for FA Patients Requiring Chrmoradiotherapy for HNSCC

Brakenhoff, Ruud, PhD, Free University, Amsterdam, Netherlands, Targeted Treatments of Oral Cancer and Precancer in FA Patients

Carreau, Madeleine, PhD, Laval University, Quebec, Canada, Exploring the Role of FANCC in the Development of Cell Death

Grompe, Markus, MD, Oregon Health & Science University, Portland, Oregon, Testing Clinically Relevant Compounds in FA

Katzenellenbogen, Rachel, MD, Seattle Children's Research Institute/University of Washington, Seattle, Washington, HPV Infection and Serology in FA Patients

Mehta, Parinda, MD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Serology Biomarker for Immune Response to HPV Vaccination & Exposure in FA

Sclafani, Robert, PhD, University of Colorado, Aurora, Colorado, Potential Therapeutic Use of Resveratrol for Head and Neck Carcogenesis in FA

Spiotto, Michael, University of Chicago, Chicago, Illinois, Non-genotoxic Inhibitors for HPV-induced HNSCC in FA

Wong, David, DMD, DMS, UCLA School of Medicine, Los Angeles, California, Salivary Biomarkers for Oral Cancer Detection in FA

Zhang, Dong, PhD, University of South Dakota, Vermillion, South Dakota, Investigate the Molecular Mechanisms of How FANCJ Regulates Centrosome Cycle


2011

Dorsman, Josephine, PhD, Free University, Amsterdam, The Netherlands, Identification of Pathway(s) Compensating for FA Gene Defects

Eklund, Elizabeth, MD, Northwestern University, Chicago, Illinois, Impaired Emergency Granulopoiesis in FA leads to Immuno-deficiency and Predisposes to Acute Myeloid Leukemia (Year Two)

Sturgis, Erich, MD, University of Texas, MD Anderson Cancer Center, Houston, Texas, Prevalence of FA Gene Germline Mutations Among Young Adults with Head and Neck Cancer

Zhong, Li, University of Florida, College of Medicine, Gainesville, Florida, Recombinant Adeno-associated Vectors for in vivo Gene Therapy of Fanconi Anemia (Year Two)


2010

Boulad, Farid, MD, Memorial Sloan Kettering Cancer Center, New York, New York, Multicenter Pilot Trial of HSCT Lacking a Genotype Identical Donor

Eklund, Elizabeth, MD, Northwestern University, Chicago, Illinois, Impaired Emergency Granulopoiesis in FA leads to Immuno-deficiency and Predisposes to Acute Myeloid Leukemia

Sale, Julian, MD, PhD, Cambridge University, Cambridge, United Kingdom, G Quadruples-induced Epigenetic Instability in FA

Yang, FengChun, MD, PhD, Indiana University Medical School, Indianapolis, Indiana, Investigating the Role of Microenvironment in the Development of Bone Marrow Failure in Fanconi anemia


2009

Bagby, Jr., Grover, MD, Oregon Health & Science University, Portland, Oregon, Preclinical Evaluation of Small Molecules as Potential Therapeutic Agents in Fanconi Anemia

Connell, Phillip, MD, University of Chicago, Chicago, Illinois, Restoration of Homologous Recombination in Fanconi Anemia

Giri, Neelam, MD, MBBS, National Cancer Institute, Rockville, Maryland, Studies of Immune Function in Patients with Fanconi Anemia

Grompe, Markus, MD, Oregon Health & Science University, Portland, Oregon, iPS Cells from Fanconi Anemia Fibroblasts

Lakin, Nick, PhD and Annette Medhurst, PhD, St. Peter's College, Oxford University, Oxford, United Kingdom, Defining the Molecular Function of FA proteins during S-Phase (Year 2)

Lako, Majlinda, PhD, Lyle Armstrong, PhD, and Christopher Mathew, PhD, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom, Using iPSC Technology to Understand Early Haematopoietic Development in FA Patients

Mallery, Susan, DDS, PhD, Ohio State University, Columbus, Ohio, Mucoadhesive Patch Delivery of Fenretinide and Berry Anthocyanins for Oral Cancer Chemoprevention

Olson, Susan, PhD, Oregon Health & Science University, Portland, Oregon, Pathophysiology and Treatment of Fanconi Anemia

Tolar, Jakub, MD, PhD, University of Minnesota, Minneapolis, Minnesota, Correction of Human Fanconi Anemia Induced Pluripotent Cells by Homologous Recombination

Wells, Susanne, PhD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, HPV Replication and Transformation in FA Squamous Cell Carcinomas

West, Stephen C., PhD and Andrew Deans, PhD, Cancer Research UK, South Mimms, United Kingdom, Coordination of the Fanconi Anemia and Bloom's Syndrome Complexes by FANCM


2008

Joenje, Hans, PhD and Josephine Dorsman, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Expression Profiling of Human Cells under Oxidative Stress: Relevance for FA

Pang, Qishen, PhD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Role of NPM in FA

Patel, K.J., PhD, MRCP, University of Cambridge, Cambridge, United Kingdom, Reconstituting and Dissecting Monoubiquitination in the FA Tumour Suppressor Pathway

Postlethwait, John, PhD, University of Oregon, Eugene, Oregon, Michael A. Pack, MD, University of Pennsylvania, Philadelphia, Pennsylavania, Alan D'Andrea, MD, A. Thomas Look, MD, and John Kanki, PhD, Dana-Farber Cancer Institute, Boston, Massachusetts, Screening for Therapeutics in Fanconi Anemia

Strayer, David, MD, PhD, Jefferson Medical College, Philadelphia, Pennsylvania, Bone Marrow-directed Gene Transfer for FA

Wang, Weidong, PhD, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, Identification of New FA-associated Genes and Understanding the Disease Mechanism through Protein Association, Part 3

Zhong, Li, MD, University of Florida College of Medicine, Gainesville, Florida, Recombinant Adeno-associated Vectors for in vivo Gene Therapy of FA


2007

Boulton, Simon, PhD, London Research Institute, London, United Kingdom, Elucidating the Role of HCLK2 in the FA Network

Brosh, Robert, PhD, National Institute on Aging, NIH, Baltimore, Maryland, Molecular and Cellular Investigation of the FANCJ Helicase Defective in FA

Hays, Laura, PhD, Oregon Health & Science University, Portland, Oregon, Comparative Genetic and Metastatic Potential Analyses of Head and Neck Squamous Cell Carcinomas from Wild-type and Fancc-deficient Mice

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, DNA Structure-specific Activation of the FA Proteins FANCM and FANCD2

Hoehn, Holger, MD and Detlev Schindler, MD, University of Wuerzburg, Wuerzburg, Germany, Revertant Mosaicism in FA: Causes and Consequences

Lakin, Nick, PhD and Annette Medhurst, PhD, St. Peter's College, Oxford University, Oxford, United Kingdom, Defining the Molecular Function of FA Proteins during S-phase

Mackenzie, Ian, DDS, PhD, Queen Mary, University of London, London, United Kingdom, Influences of Stem Cell Behavior in Head and Neck Cancers of FA Patients

Meetei, Ruhikanta, PhD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Defining the FA-DNA Repair Pathway by Protein Association Analysis

Skinner, Amy and Peter Kurre, PhD, Oregon Health & Science University, Portland, Oregon, Systemic In Situ Delivery of Lentivector to Hematopoietic Stem Cells to Reverse Fanconi Anemia-associated Bone Marrow Failure

Taniguchi, Toshiyasu, MD, PhD, Fred Hutchinson Cancer Research Center, Seattle, Washington, Identification of MicroRNAs Regulating the Fanconi Anemia-BRCA Pathway

Thakar, Monica and Hans-Peter Kiem PhD, Fred Hutchinson Cancer Research Center, Seattle, Washington, Non-myeloablative Hematopoietic Cell Transplantation for Patients with FA using Related, HLA-Haploidentical Donors: A Phase I/II Dose-Finding Study


2006

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Cloning and Partial Characterization of FANCI

Mankad, Anuj, PhD, Cincinnati Children's Medical Center, Cincinnati, Ohio, Characterization of the FANCA Protein and Patient-Derived FANCA Mutants

Pellegrini, Luca, PhD and Shobbir Hussain, PhD, University of Cambridge, Cambridge, United Kingdom, The Structural Basis for the Role of FANCG in Homologous Recombination (second year)

Postlethwait, John, PhD, University of Oregon, Eugene, Oregon, A Small Molecule Screen for FA

Walsh, Christopher, MD, PhD, Mount Sinai Medical School, New York, New York, Generation and Differentiation of FA Human Embryonic Stem Cells

Wells, Susanne I., PhD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Fanconi Anemia and HPV-associated Disease

Zavras, Athanasios, DMD, DMSc, Harvard School of Dental Medicine, Boston, Massachusetts, Technology Assessment for Oral Cancer Early Diagnosis


2005

Brakenhoff, Ruud, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Genetic Progression of FA-SCC and Development of a Non-Invasive Screening Method for Precursor Lesions

de Winter, Johan, PhD and Hein te Riele, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, A Knock-Out Mouse for Fancm

Fagerlie, Sara, PhD, Fred Hutchinson Cancer Research Center, Seattle, Washington, Establishing an FA Canine Model

Haneline, Laura, MD, Indiana University School of Medicine, Indianapolis, Indiana, Preclinical Analysis of Potential Therapeutic Agents Targeted to Enhance FANC-/-HSC Function

Howlett, Niall, PhD and Thomas Glover, PhD, University of Michigan Medical School, Ann Arbor, Michigan, Role of the FA Pathway in the DNA Replication Stress Response

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Cloning and Partial Characterization of FANCI (second year)

Kelly, Patrick, MD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Gene Transfer for Patients with FA Genotype A

Lehtinen, Duane, PhD and Thomas Hollis, PhD, Wake Forest University School of Medicine, Winston-Salem, North Carolina, Crystallographic Studies of the FANCL Protein

Richards, Sue C., PhD, Oregon Health & Science University, Portland, Oregon, Development of a Comprehensive Clinical Program for FA Diagnosis: A Molecular Approach

Rose, Susan, MD, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, Thyroid Hormone in Children with FA

Tonnies, Holger, PhD and Heidemarie Neitzel, PhD, Humboldt University of Berlin, Medical University, Charite' - Institute for Human Genetics, Berlin, Germany, Multi-Center Study for Correlating the Clinical Data with Clonal Aberrations in Mononuclear Peripheral Blood Cells of FA


2004

Carreau, Madeleine, PhD, Laval University, Quebec City, Canada, Characterization of FANCC Proteolytic Fragments

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Functional Analysis of FA Pathway

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Cloning and Partial Characterization of FANCI and FANCJ

Kelly, Patrick, MD, David Williams, MD, and Franklin Smith, MD, Cincinnati Children's Medical Center, Cincinnati, Ohio, Hematopoietic Cells from Patients with FA for Future Autologous Reinfusion and Research

Patel, K.J., PhD, MRCP, University of Cambridge, Cambridge, United Kingdom, A Proteomic Genetic Approach to Defining the Precise Enzymatic Function of the FA Nuclear Complex in DNA Repair

Pellegrini, Luca, PhD, University of Cambridge, Cambridge, United Kingdon, The Structural Basis for the Biological Role of FANCG in Homologous Recombination

Petryk, Anna, PhD, University of Minnesota Medical School, Minneapolis, Minnesota, Glucose and Insulin Abnormalities in Fanconi Anemia

Postlethwait, John, PhD, University of Oregon, Eugene, Oregon, A Zebrafish Model for FA

Tolar, Jakub, MD, PhD and Bruce Blazar, MD, University of Minnesota Medical School, Minneapolis, Minnesota, In vivo Human Hematopoietic Stem Cell Transgenesis by Transposition

Verfaillie, Catherine, MD and Uma Lakshmipathy, PhD, University of Minnesota Medical School, Minneapolis, Minnesota, FANCC Gene Correction Mediated by PhiC31 Intergrase


2003

Bagby, Jr., Grover, MD, Oregon Health & Science University, Portland, Oregon, The Fanconi Anemia Transcriptome Consortium (addendum for genotyping)

Brakenhoff, Ruud, PhD, Hans Joenje, PhD, and Vincent van Beusechem, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Development of Virotherapy Using Retargeted Adenoviruses to Eradicate Preneopolastic Lesions for the Oral Cavity and Oropharynx

Grompe, Markus, PhD, Oregon Health & Science University, Portland, Oregon, Non-viral Gene Therapy for Fanconi Anemia

MacMillan, Margaret, MD, The University of Minnesota Medical School, Minneapolis, Minnesota, Immune Reconstitution and Risk of Opportunistic Infections After Unrelated Donor Hematopoietic Cell Transplantation in Patients with Fanconi Anemia.

Pang, Qishen, PhD, Cincinnati Children's Medical Center, Cincinnati, Ohio, Role of FA Protein Complexes in Fanconi Anemia

Patel, K.J., PhD, MRC Laboratory of Molecular Biology, Gonville and Caius College, Cambridge University, Cambridge, United Kingdon, Biochemical Analysis and Structural Determination of FAE and D2 Proteins

Seidman, Michael, PhD, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, Repair and Recombination Induced by Targeted Geonomic Crosslinks in FA Cells

Verma, Inder, PhD, Salk Institute for Biological Studies, La Jolla, California, Gene Therapy for Fanconi Anemia Using Lentiviral Vectors

Wang, Weidong, PhD, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, Identify New FA Genes and Understand the Disease Mechanism through Protein Association


2002

Blazar, Bruce, MD, and Jakub Tolar, MD, University of Minnesota Medical School, Minneapolis, Minnesota, Multipotent Adult Progenitor Cell Effects on Tissue Repair after Bone Marrow Transplant in Fanconi anemia

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Development of a Xenopus Model for Fanconi anemia

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Retroviral Expression Cloning of FANCI and FANCJ

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Complementation Analysis in Fanconi Anemia

Verfaillie, Catherine, MD and Uma Lakshmipathy, PhD, University of Minnesota Medical School, Stem Cell Institute, Minneapolis, Minnesota, FANCC Gene Correction by Homologous Recombination in Multipotent Adult Progenitor Cells

Verfaillie, Catherine, MD and Balkrishna Jahagirdar, MD, University of Minnesota Medical School, Minneapolis, Minnesota, Transplantation of Adult Stem Cells for Treatment of Fanconi anemia


2001

Bagby, Grover, Jr., MD, Oregon Cancer Institute, Oregon Health & Science University, Portland, Oregon, The Fanconi Anemia Transcriptome Consortium

Grompe, Markus, Oregon Health & Science University, Portland, Oregon, Functional Studies of Drosophila FANCD2

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Complementation Analysis in Fanconi Anemia

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Characterization of the Fanconi anemia Proteins FANCE and FANCF


2000

D'Andrea, Alan, MD, Dana-Farber Cancer Institute, Boston, Massachusetts, Mutational Analysis of Fanconi Anemia Genes in Leukemia and Preleukemia in the General (Non-FA) Population

Hanenberg, Helmut MD, Heinrich Heine University, Dusseldorf, Germany, Complementation of Primary Fanconi Anemia Fibroblasts with Retroviral Vectors

Jasin, Maria, PhD and Andrew J. Pierce, PhD, Memorial Sloan-Kettering Cancer Center, Sloan-Kettering Institute, New York, New York, Genetic Instability in FA Cells: Possible Role of Homologous Recombinations

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Cloning & Characterization of the Fanconi Anemia Genes FANCE and/or FANCF

Lambert, Clark W., MD, PhD, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, New Jersey, DNA Cross-Link Induced Cell Cycle Dynamics in Fanconi Anemia

Lee, Suk-Hee, PhD, Indiana University School of Medicine, Indianapolis, Indiana, Functional Analysis of Fanconi Anemia Genes

Orchard, Paul, MD and John Wagner, MD, University of Minnesota Medical School, Minneapolis, Minnesota, Co-Infusion of Genetically Modified Unrelated Donor T-Cells to Enhance Safety of Unrelated Donor Marrow Transplantation in Patients with Fanconi Anemia

Schindler, Detlev, MD, University of Wuerzberg, Wuerzberg, Germany, Expanding and Accelerating Mutational Analysis in the Fanconi Anemia Gene

Taylor, Malcolm G., MD, Immunogenetics Laboratory, Manchester, England, Pilot Study to Assess the Risk of Early Onset Sporadic Childhood Leukemia Associated with Sequence Variations in the Fanconi Anemia Group G (FANCG) Gene

Verma, Inder, PhD, Salk Institute for Biological Studies, LaJolla, California, Gene Therapy for Fanconi Anemia

Vos, Jean-Michel, D.Sc, University of North Carolina School of Medicine, Chapel Hill, North Carolina, Fanconi Anemia Type C Gene Therapy: Use of a HSV1/EBV Vector in Vitro and in Vivo Studies

Youssoufian, Hagop, MD, Baylor University School of Medicine, Houston, Texas, Analysis of Candidate Modifying Genes in Fanconi Anemia in Transgenic Mouse Models


1999

Blau, Anthony, MD, University of Washington School of Medicine, Seattle, Washington, In Vivo Selection for Fanconi Anemia

Carreau, Madeleine, PhD, Hospital for Sick Children, Toronto, Canada, Hematopoietic Stem Cell Development in FANCC Mouse Model and Long-Term Curative Potential of Lentivirus-Targeted Gene Transfer

Curiel, David, MD, University of Alabama, Birmingham, Alabama, A Novel Vector Strategy to Accomplish Gene Therapy for Fanconi Anemia

Guinan, Eva, MD, Children's Hospital, Dana-Farber Cancer Institute, Boston, Massachusetts, Amifostine for the Treatment of Fanconi Anemia

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Production and Characterization of Polyclonal and Monoclonal Antibodies for FAA and FAC

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Complementation Analysis in Fanconi Anemia

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Cloning and Characterization of the Fanconi Anemia Genes FANCE and/or FANCF

Kurre, Peter, MD and Hans-Peter Kiem, MD, Fred Hutchinson Cancer Research Center, Seattle, Washington, Design and Production of a Clinical Grade Retroviral Vector for a Phase I Clinical Study to Investigate Replacement Gene Therapy for the Treatment of Fanconi Anemia

Mathew, Chris, PhD, Guy's Hospital, King's College, London, United Kingdom, Investigation of the Effect of Mutations in the Fanconi Anemia Group A Gene on the Expression and Function of the FAA Protein

Surralles, Jordi, PhD, Universitat Autonoma de Barcelona, Spain, Fanconi Anemia: Study on Telomere Shortening and Development of a Novel Molecular Cytogenetic Diagnosis

Wagner, John, MD, University of Minnesota Medical School, Minneapolis, Minnesota, Treatment of Fanconi Anemia by Alternative Donor Hematopoietic Stem Cell Transplantation

Walsh, Chris, MD, PhD, University of North Carolina, Chapel Hill, North Carolina, Genetic Correction of Fanconi Anemia Group C Patients


1998

Auerbach, Arleen, PhD, The Rockefeller University, New York, New York, Genetic Mapping of New FA Genes and Mutation Analysis of FAA

Curiel, David T., MD, University of Alabama, Birmingham, Alabama, A Novel Vector Strategy to Accomplish Gene Therapy for Fanconi Anemia

D'Andrea, Alan, MD, Dana-Farber Cancer Institute, Boston, Massachusetts, Rapid Subtype Analysis of Fanconi Anemia Patients by Retroviral-Mediated Transfer of FA Genes

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Production and Characterization of Polyclonal and Monoclonal Antibodies Specific for FAA and FAC

Xie, Yan, MD, Hubei Medical University, Shijiazhuang, China, Toward a Diagnostic Service for Fanconi Anemia in Central China

Youssoufian, Hagop, MD, Baylor College of Medicine, Houston, Texas, Localization and Regulation of the FA-A Protein


1997

Auerbach, Arleen, PhD, The Rockefeller University, New York, Isolation of FA Genes and Mutation Analysis of FAA

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Complementation analysis in Fanconi anemia

Kelley, Mark, PhD, Indiana University Medical Center, Indianapolis, Indiana, Complementation of Fanconi's Anemia A with the S3 8 - Oxoguanine DNA Gylcosylase DNA Repair Gene

Mathew, Chris, PhD, Guys Hospital, King's College, London, United Kingdom, Investigation of the Nature and Effect of Mutations in the Fanconi anemia Group A Gene in the Populations of Europe

Prchal, Josef, MD, University of Alabama, Birmingham, Alabama, Cellular Events Leading to Progression of Fanconi Anemia

Pronk, Jan, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Molecular Basis of Somatic Mosaicism in Fanconi Anemia

Roifman, Chaim, PhD, Hospital for Sick Children, Toronto, Canada, Development of Tyrophostin Inhibitors for Treatment of Acute Myeloblastic Leukemia in Fanconi's Anemia Patients

Youssoufian, Hagop, MD, Baylor College of Medicine, Houston, Texas, Localization and Regulation of the FA-A Protein

Wagner, John, MD, University of Minnesota, Minneapolis, Minnesota, Treatment of Fanconi Anemia by Alternative Donor Hematopoietic Stem Cell Transplantation


1996

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Fanconi Anemia: Role of the C Protein

Joenje, Hans, PhD, Vrije Universiteit Medical Center ,Amsterdam, The Netherlands, Complementation Analysis in Fanconi Anemia

Joenje, Hans, PhD, Vrije Universiteit Medical Center ,Amsterdam, The Netherlands, Complementation Cloning of FANCA

Wagner, John, MD, University of Minnesota, Minneapolis, Minnesota, Treatment of Fanconi Anemia by Alternate Donor Hematopoietic Stem Cell Transplantation

Mathew, Chris, PhD, Guys Hospital, King's College, London, United Kingdom, Identification of Mutations in the Fanconi Anemia Group A Gene

Arceci, Robert, PhD, MD, Children's Hospital Medical Center, Cincinnati, Ohio, Testing Immune Co-Stimulatory Therapy for Human AML

Arwert, Freerk, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Experimental Mouse Model for Fanconi Anemia Complementation Group A

Auerbach, Arleen, PhD, The Rockefeller University, New York, New York, Isolation of FA Genes by Functional Complementation

Buchwald, Manuel, PhD, Hospital for Sick Children, Toronto, Canada, Studies of FAC Structure and Function

Heerema, Nyla A., PhD, Indiana School of Medicine, Indianapolis, Indiana, Interphase Cytogenetic Studies of Fanconi Anemia Patients: Significance of Monosomy 7

Kelley, Mark, PhD, Indiana University Medical Center, Indianapolis, Indiana, Complementation of Fanconi's Anemia A with the S3 8 - Oxoguanine DNA Gylcosylase DNA Repair Gene


1995

Auerbach, Arleen, PhD, The Rockefeller University, New York, New York, Isolation of Fanconi Anemia Genes By Functional Complementation

Hoatlin, Maureen, PhD, Oregon Health & Science University, Portland, Oregon, Identification of Proteins that interact with the Fanconi Anemia Complementation Group C protein

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Complementation Analysis in Fanconi Anemia

Arwert, Freerk/Mathew, Chris, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands/Guys Hospital, King's College, London, United Kingdom, Positional Cloning of the FA Complementation Group A Gene (Joint Proposal)


1994

Grompe, Markus, MD and Robb E. Moses, MD, Oregon Health & Science University, Portland, Oregon, FA Cell Repository, Gene Isolation by Complementation Studies

Joenje, Hans, PhD, Vrije Universiteit Medical Center, Amsterdam, The Netherlands, Complementation Analysis in Fanconi Anemia

Hoatlin, Maureen, Oregon Health & Science University, Portland, Oregon, Production of Fanconi Anemia protein antibodies and identification of functional FA protein-protein interactions

Lambert, Muriel, PhD, New Jersey Medical School, Newark, New Jersey, Repair of DNA Interstrand Cross-Links in Fanconi Anemia Cells

Zdienicka, Margaret, PhD, Lieden University, The Netherlands, Identification of the defective gene in Fanconi anemia (group A) patients


1993

Boyd, Jim, PhD/ transferred to Ken Burtis, PhD, University of California, Davis, California, Genetic Characterization of the Drosphilia mus115gene

Buchwald, Manuel, PhD, Hospital for Sick Children, Toronto, Canada, Molecular Genetics of Fanconi Anemia

Grompe, Markus, MD and Robb E. Moses, MD, Oregon Health & Science University, Portland, Oregon, FA Cell Repository

Grompe, Markus, MD and Robb E. Moses, MD, Oregon Health & Science University, Portland, Oregon, Fanconi Anemia: The Molecular Defect

Meyn, Stephen, MD, PhD, Yale University, New Haven, Connecticut, Isolation of Fanconi Anemia Gene by cDNA Complementation

Vos, Jean-Michel, DSc, Lineberger Cancer Research Center, University of North Carolina, Chapel Hill, North Carolina, Epstein-Barr Viral Vector for Cloning and Gene Therapy of Fanconi Anemia

Zdienicka, Margaret, PhD, Lieden University, The Netherlands, Identification of the defective gene in Fanconi anemia (group A) patients

 

1992

Boyd, Jim, PhD, University of California, Davis, California, FA-A Gene Cloning with Drosophila mus308 Gene

Buchwald, Manuel, PhD, Hospital for Sick Children, Toronto, Canada, Molecular Genetics of Fanconi Anemia

Meyn, Stephen, MD, PhD Yale University, New Haven, Connecticut, Isolation of Fanconi Anemia Gene by cDNA Complementation

Moses, Robb E., MD and Marcus Grompe, MD, Oregon Health & Science University, Portland, Oregon, Molecular Studies in Fanconi Anemia

Vos, Jean-Michel, DSc Lineberger Cancer Research Center, University of North Carolina, Chapel Hill, North Carolina, Epstein-Barr Viral Vector for Cloning and Gene Therapy of Fanconi Anemia


1991

Alter, Blanche, MD, Mt. Sinai University, New York, New York, Erythropoiesis in Fanconi Anemia

Auerbach, Arleen, PhD, The Rockefeller University, New York, New York, RFLP Mapping and FA Register

Guinan, Eva, MD, Dana-Farber Cancer Institute, Boston, Massachusetts, Performance of Cytokine Assays

Boyd, Jim, PhD, University of California, Davis, California, Unrestricted Grant for Fanconi Anemia Research

Buchwald, Manuel, PhD, Hospital for Sick Children, Toronto, Canada, Molecular Genetics of Fanconi Anemia

Zdienicka, Margaret, PhD, Lieden University, The Netherlands, Identification of the defective gene in Fanconi anemia (group A) patients


1990

Auerbach, Arleen, PhD, The Rockefeller University, New York, New York, RFLP Mapping and FA Register

Boyd, Jim, PhD, University of California, Davis, California, Molecular and Genetic Analysis of Fanconi's Anemia

Vos, Jan-Michel, DSc, Lineberger Cancer Research Center, University of North Carolina, Chapel Hill, North Carolina, Cloning and Characterization of the Defective Gene in the hereditary disease Fanconi Anemia

Moses, Robb. E., MD, Baylor College of Medicine, Houston, Texas, The Identification of the Fanconi Anemia Gene

Zdienicka, Margaret, PhD, Lieden University, The Netherlands, Identification of the defective gene in Fanconi anemia
(group A) patients


1989

Alter, Blanche, MD, Mt. Sinai University, New York, New York, Fanconi's Anemia Studies in Hematopoiesis

Auerbach, Arleen, PhD, The Rockefeller University, New York, New York, Mapping the Gene(s) for Fanconi Anemia by Linkage Analysis of DNA Markers

Pagano, Giovanni, PhD, Naples Research Group on FA, Naples, Italy, Physiological and synthetic antioxidants for counteracting the cytogenetic damage induced by oxygen free radicals: A study on Fanconi anemia cells, normal blood cells, and sea urchin embryos

Shahidi, Nasrollah, University of Wisconsin, Madison, Wisconsin, Mutation with Environmental Change

of note

Submit your abstract for the 2017 FA Symposium! learn more...

We are pleased to welcome Mark Quinlan to the FARF team as Executive Director learn more...

Five Fanconi Anemia Projects Funded in Last Year Thanks to Knight Family learn more...