Grants Funded by the A-T Children’s Project
2022
A-T Clinical Center
Johns Hopkins University
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
A Software System for Asking Open-Ended Research Questions about A-T
Valerie Natale, PhD – Forgotten Diseases Research Foundation
Repurposing Screen in A-T Deficient Cells
Charles River Laboratories
Quanterix & Elisa Assay Verification and Sample Testing
Precision for Medicine
Means to Rebalance ATM Loss Upon Oxidative Stress
Gabriel Balmus, PhD – University of Cambridge
Use of Machine Vision and Learning Techniques to Characterize and Quantify Neurophenotypes in A-T
Anoopum Gupta, MD, PhD – Massachusetts General Hospital
2021
A-T Clinical Center
Johns Hopkins University
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
Genetically Tailored Splice-Modulating Therapy for A-T
Timothy Yu, MD, PhD – Boston Children’s Hospital
Ex Vivo Targeted Delivery of ATM using FiCAT
Marc Guell, PhD – Pompeu Fabra University
A Software System for Asking Open-Ended Research Questions about A-T
Valerie Natale, PhD – Forgotten Diseases Research Foundation
Repurposing Screen in A-T Deficient Cells
Charles River Laboratories
Quanterix & Elisa Assay Verification and Sample Testing
Precision for Medicine
2020
A-T Clinical Center
Johns Hopkins University
A Software System for Asking Open-Ended Research Questions about A-T
Valerie Natale, PhD – Forgotten Diseases Research Foundation
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
Genetically Tailored Splice-Modulating Therapy for A-T
Timothy Yu, MD, PhD – Boston Children’s Hospital
Single-Cell Analysis of Somatic Mutations in Human A-T Neurons
E. Alice Lee, PhD & Christopher Walsh, PhD – Boston Children’s Hospital
Use of Machine Vision and Learning Techniques to Characterize and Quantify Neurophenotypes in A-T
Anoopum Gupta, MD, PhD – Massachusetts General Hospital
Death Sequelae in A-T Patients
Nadine Kridli – University of Michigan
2019
A-T Clinical Center
Johns Hopkins University
Non-Viral Gene Therapy for Ataxia Telangiectasia (A-T)
James Dixon, PhD – University of Nottingham
Use of Machine Vision and Learning Techniques to Characterize and Quantify Neurophenotypes in A-T
Anoopum Gupta, MD, PhD – Massachusetts General Hospital
Single-Cell Analysis of Somatic Mutations in Human A-T Neurons
E. Alice Lee, PhD & Christopher Walsh, PhD – Boston Children’s Hospital
Growth Analysis for Ataxia Telangiectasia: Data Collection at the A-T Clinical Center at Johns Hopkins Hospital
Valerie Natale, PhD – Forgotten Diseases Research Foundation
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
Pharmacologic Correction of the Cellular Sulfide Pool as a Treatment for A-T
Rodney Shackelford, DO, PhD – LSU Health Shreveport
Understanding the Cerebellar Degeneration in Ataxia-Telangiectasia
Yosef Shiloh, PhD – Tel Aviv University, Israel
Effects of Nicotinamide Riboside (vitamin B3) in Patients with A-T
Michel Willemsen, PhD – Radboud University Medical Center
Genetically Tailored Splice-Modulating Therapy for A-T
Timothy Yu, MD, PhD – Boston Children’s Hospital
2018
A-T Clinical Center
Johns Hopkins University
Ataxia-Telangiectasia: Epidemiological Survey in Latin America
Beatriz Tavares Costa-Carvalho, MD – Universidade Federal de Sao Paolo, Brazil
International Neuroimaging Collaboration for Ataxia-Telangiectasia
Rob Dineen, PhD – University of Nottingham
Molecular Analysis of iPSC-derived PCs from Patients with A-T
Mary Beth Hatten, PhD – Rockefeller University
RNAseq as Biomarkers for Immune Dysregulation and Malignancy in Ataxia Telangiectasia
Sharon McGrath-Morrow, MD – Johns Hopkins University
Growth Analysis for Ataxia Telangiectasia: Data Collection at the A-T Clinical Center at Johns Hopkins Hospital
Valerie Natale, PhD – Forgotten Diseases Research Foundation
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
Understanding the Cerebellar Degeneration in Ataxia-Telangiectasia
Yosef Shiloh, PhD – Tel Aviv University, Israel
Genetically Tailored Splice-Modulating Therapy for A-T
Timothy Yu, MD, PhD – Boston Children’s Hospital
2017
A-T Clinical Center
Johns Hopkins University
Use of Machine Vision and Learning Techniques to Characterize and Quantify Neurophenotypes in Ataxia-Telangiectasia
Anoopum Gupta, MD, PhD – Massachusetts General Hospital
Identifying Potential Mechanisms to Suppress A-T Pathologies
Stephen Jackson, PhD – University of Cambridge, UK
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
Therapeutic Strategies for Ataxia-Telangiectasia Lung Disease
JoAnn M. Sekiguchi, PhD – University of Michigan
iPSC Processing and Quality Control
Michael Sheldon, PhD – Rutgers University RUCDR INFINITE BIOLOGICS
Understanding the Cerebellar Degeneration in Ataxia-Telangiectasia
Yosef Shiloh, PhD – Tel Aviv University, Israel
2016
A-T Clinical Center
Johns Hopkins University
Enabling Drug Screening for Ataxia-Telangiectasia
Edward C. Gilmore, MD, PhD – Case Western Reserve University
Investigation of the Role of Oxidative Stress in Pulmonary Disease in Ataxia-Telangiectasia
Martin Lavin, PhD – University of Queensland, Australia
Global A-T Family Data Platform and Genome Sequencing Project
Anthony Philippakis, MD, PhD – Broad Institute at MIT and Harvard
Exploring the Cognitive and Motor Phenotype in Ataxia-Telangiectasia
Jeremy D. Schmahmann, MD – Harvard University/Massachusetts General Hospital
Understanding the Cerebellar Degeneration in Ataxia-Telangiectasia
Yosef Shiloh, PhD – Tel Aviv University, Israel
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Stefan Zielen, MD & Ralf Schubert, PhD – Goethe University, Germany
2015
A-T Clinical Center
Johns Hopkins University
Childhood Ataxia Telangiectasia Neuroimaging Assessment Project – The Catnap Study
Dr. Rob Dineen – University of Nottingham
Enabling Drug Screening for Ataxia Telangiectasia
Christopher Gibson, PhD – Recursion Pharmaceuticals
Defined A-T iPSC Lines With Genetic Diversity
Ronald P. Hart, PhD – Rutgers, The State University of New Jersey
Investigation of the Role of the Cerebellum in the Developmental Neurocognitive Profile of Ataxia-Telangiectasia
Jeremy D. Schmahmann, MD – Massachusetts General Hospital
Pharmacologic Manipulation of Nicotinamide Dinucleotide Metabolism as a Treatment for Ataxia-Telangiectasia
Rodney Shackelford, DO, PhD – LSU Health Shreveport
Proof-of-Principle Studies on Using Mitochondrial Antioxidants for Ataxia-Telangiectasia
Gerald S. Shadel, PhD – Yale University School of Medicine
Understanding the Cerebellar Degeneration in Ataxia-Telangiectasia
Yosef Shiloh, PhD – Sackler School of Medicine
Induced Pluripotent Stem Cells (iPSC) Models of Ataxia-Telangiectasia
Anthony Wynshaw-Boris, PhD – Case Western Reserve University School of Medicine
2014
A-T Clinical Center
Johns Hopkins University
Telomere Length as a Biomarker of Clinical Outcomes in AtaxiaTelangiectasia
Mary Armanios, MD – Sidney Kimmel Comprehensive Cancer Center & McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Genome Editing to Produce Inducible ATM Deletions in iPSCs
Ronald P. Hart, PhD – Rutgers, The State University of New Jersey
Metabolic Sensing and Stress Response Deficit in Ataxia Telangiectasia
Michael B. Kastan, MD, PhD – Duke University School of Medicine
Development and Validation of the Ataxia-Telangiectasia Neurological Examination Scale Toolkit (A-T NEST)
Howard Lederman, MD, PhD – Johns Hopkins University
Generation of Lymphoma and Leukemia Cell Lines from Individuals with A-T
Mark D. Noble, PhD – University of Rochester Medical Center
Investigation of the Role of the Cerebellum in the Developmental Neurocognitive Profile of A-T
Jeremy D. Schmahmann, MD & Franziska Hoche, MD – Massachusetts General Hospital
2013
A-T Clinical Center
Johns Hopkins University
Childhood Ataxia Telangiectasia Neuroimaging Assessment Project – The Catnap Study
Dr. Rob A. Dineen, PhD & Prof Dorothee Auer, MD, PhD, FRCR – University of Nottingham
Neurons from Blood-Derived Stem Cells as a Model of A-T Neurodegeneration
Ronald P. Hart, PhD – The State University of New Jersey
Therapeutic Strategies for Offsetting Neurological Sequelae in A-T
Margot Mayer-Proschel, PhD – University of Rochester
Analyzing Eye and Head Movements in Patients with Ataxia-Telangiectasia
Pavan Vaswani, MD PhD Candidate – Johns Hopkins University
Assessing the Dynamics of Reaching Movements in Patients with Ataxia-Telangiectasia
Pavan Vaswani, MD PhD Candidate – Johns Hopkins University
2011 – 2012
A-T Clinical Center
Johns Hopkins University
Linking Neurodegeneration to Protein Turnover in Ataxia Telangiectasia
Shyamal D. Desai, PhD – LSU-Health Sciences Center
PCD Mice as an Animal Model of Ataxia in A-T
Kamran Khodakhah, PhD – Albert Einstein College of Medicine
Investigating Connectivity and Neuroinflammation within Corticomotor Networks in Ataxia-Telangiectasia: Improving our Understanding of the Clinical Phenotype
Associate Professor Stephen Rose – University of Queensland, Dr. Kate Sinclair – Royal Children’s Hospital, Professor Martin Lavin – University of Queensland
Inspiratory Muscle Training in Patients with Ataxia-Telangiectasia
Emma Ross, PhD – University of Brighton
Mitochondrial Reactive Oxygen Species and Dysfunction in Ataxia-Telangiectasia
Gerald S. Shadel, PhD – Yale University School of Medicine
Addressing Neurological Dysfunction in Ataxia Telangiectasia: Investigation into Novel, Physiologic ATM Activation in Neurons and ATM-PP1 Signaling in Reorganization and Refinement of Post Synaptic Architecture (Post-doctoral Fellowship Award)
Benjamin Siddoway PhD – Health Science Center
Developing ATM Conditional Knockout Human Embryonic Stem Cells Into a Disease Model for A-T Neurodegeneration
Yang Xu, PhD – University of California, San Diego
2009 – 2010
A-T Clinical Center
Johns Hopkins University
Non-Traditional Roles of ATM in Neurons
Karl Herrup, Ph.D. – Case Western Reserve University School of Medicine
Maintenance of Congenic Mice
Michael M. Weil, Ph.D. – Colorado State University
Systemic Inflammation in Patients with Ataxia Telangiectasia
Sharon McGrath, MD – Johns Hopkins School of Medicine
2008
A-T Clinical Center
Johns Hopkins University
Impact of Growth Factor (GF) Supplementation on Growth Retardation and Neurodegeneration in Ataxia telangiectasia
Ralf Schubert, PhD – Klinikum der Johann Wolfgang Goethe Universität
Increasing A-T Cell Viability by Pharmacologic Modulation of Intracellular Nicotinamide Adenine Dinucleotide Levels
Rodney Shackelford, DO, PhD – Johns Hopkins University and Howard Lederman, MD, PhD – Johns Hopkins University
Generation of a Panel of Monoclonal Antibodies Against the Human and Mouse ATM Proteins
Yossi Shiloh, PhD – Tel Aviv University
Signaling Pathways Involved in Oxidative Stress-mediated Neurodegeneration in ATM Gene Deficiency
Paul Wong, PhD – MD Anderson Cancer Center
ATM, a Novel Activator of Akt that Regulates Neuronal Survival in Response to Insulin and IGF-1
Da-Qing Yang, Ph.D. – The University of South Dakota
2007
A-T Clinical Center
Johns Hopkins University
Non-Traditional Roles of ATM in Neurons
Karl Herrup, Ph.D. – Case Western Reserve University School of Medicine
Functional Dissection of an ATM-CREB Signaling Pathway in the Nervous System
Randal Tibbetts – U. of Wisconsin, Madison
Quantitative Proteomic Analysis of Cerebrospinal Fluid (CSF) from Ataxia-telangiectasia Patients Using LC/MS-based Label-free Protein Quantification Method
Mu Wang, Ph.D. – Indiana University School of Medicine
Gait Analysis in A-T Mice
Michael M. Weil, Ph.D. – Colorado State University and Mouse Specifics, Inc.
Generation of Disease-Specific Human Embryonic Stem Cells to Study the Mechanism of Pathogeneses in Ataxia-telangiectasia
Yang Xu, Ph.D. – University of California San Diego
A-T Clinical Center
Johns Hopkins University
ATM in Immune Responses
Jessamyn Bagley, PhD – Brigham and Women’s Hospital
The Role of the DNA Damage Response in Cerebellar Degeneration of A-T
Ari Barzilai, PhD – Tel Aviv University
Identification and Characterization of Chemicals that Readthrough PTC Mutations in the ATM Gene
Richard A. Gatti, M.D. – UCLA School of Medicine
The role of pro-apoptotic BID as an ATM effector in the DNA-damage response
Atan Gross, Ph.D. – Weizmann Institute of Science
Genome (Chromosome) Instability in the Brain and Neuronal Death in Ataxia Telangiectasia
Prof. Yuri B. Yurov – Russian Academy of Medical Sciences
2005
A-T Clinical Center
Johns Hopkins University
Role of ATM in the Control and Execution of Apoptosis: Crosstalk between ATM and Abl Kinases and Caspases
Daniela Barilá, PhD – Dulbecco Telethon Institute at University of Tor Vergata
Down Regulation of Nucleophosmin (NPM): A New Mechanism to Activate p53 in AT Cells
France Carrier, PhD – University of Maryland, Baltimore
Perinatal Implantation of Human Glial Progenitor Cells as a Treatment Strategy for the Childhood Myelin Disorders
Steven A. Goldman, PhD – Cornell University
The Zebrafish as a Novel Model System of Ataxia-Telangiectasia and Other Related Diseases
Shuji Kishi, M.D., PhD – Instructor in Pathology, Harvard Medical School
Correction of the Neurological Defect in Atm gene-disrupted Mice by the Insoindolin Nitroxide, 5 carbocy-1,1,3,3-tetramethylisoindoline-2-yloxyl (CTMIO)
Martin F. Lavin, PhD – Queensland Institute of Medical Research
Regulation of ATM Pathways by Oncogenic Phosphatase PPM1D
Xiongbin Lu, PhD – Baylor College of Medicine
Lung Function in Ataxia-Telangiectasia
Sharon McGrath, MD – Johns Hopkins School of Medicine
Relationship Between DNA Damage Detection and Signaling Revealed in Humanized Mouse Models of AT and NBS
Andre Nussenzweig, PhD – NIH, NCI
Functional Interactions between ATM,E2F1 and the M/R/N DNA repair complex.
Tanya T. Paull, PhD – The University of Texas at Austin
Exploration of the Function of ATM in Glial Biology
Prithi Rajan, PhD – The Burnham Institute
Iron Chelators as a Pharmacological Treatment to Reduce Spontaneous dsDNA Breaks in Ataxia-Telangiectasia Cells
Rodney Shackelford – Louisiana State University at Shreveport
Aberrant Regulation of Mitochondrial DNA in Ataxia-telangiectasia
Gerald S. Shadel, PhD – Yale University School of Medicine
Understanding ATM
Yossi Shiloh, PhD – Tel Aviv University
Multimodal Stem Cell Action in Inherited CNS Disease
Evan Snyder, MD, PhD – The Burnham Institute
Cell Cycle and Cell Death in atm-Deficient Neuron
Yan Yang, MD, PhD – Case Western Reserve University School of Medicine
2004
A-T Clinical Center
Johns Hopkins University
Gene Therapy for Ataxia-Telangiectasia
Maria Luisa Cortes, PhD – Massachusetts General Hospital
Generation of a Rat Model for Ataxia-Telangiectasia
Martin F. Lavin, PhD – Queenslands Institute of Medical Research and Michael M. Weil, PhD – Colorado State University
ATM Activates the Myocyte Enhancer Factor-2 (MEF2) Family of Transcription Factors Implicated in Regulation of Neuronal Differentiation and Survival
Stuart Lipton, MD, PhD – The Burnham Institute
The Function of ATM in Neuronal Differentiation: Identification of Targets for High Throughput Screening
Brendan Price, PhD – Dana-Farber Cancer Institute
ATM Gene Transfer for Ataxia-Telangiectasia by a Novel Herpes Amplicon Vector
Suming Wang, MD, PhD
Understanding ATM
Yossi Shiloh, PhD – Tel Aviv University
2003
A-T Clinical Center
Johns Hopkins University
The Role of Atm Protein in the DNA Damage Response in Cerebellar Neuronal Cells
Ari Barzilai, PhD – Tel Aviv University
New Mechanisms to Activate p53 Function in A-T Cells
France Carrier, PhD – University of Maryland
Induction for Hematopoietic Chimerism for Treatment of Immune System Defects in Ataxia-Telangiectasia
John Iacomini, PhD – Massachusetts General Hospital
ATM Modulation of CREB Phosphorylation in the Developing Thymus, Testes and Cerebellum
Wenan Qiang, PhD – Northwestern University Feinberg School of Medicine
Understanding ATM
Yossi Shiloh, PhD – Tel Aviv University
Developing PARP Inhibitors that can Penetrate the Blood Brain Barrier by Oral Dosing
Jir Zhang, PhD – Guilford Pharmaceuticals, Inc.
Desferrioxamine as a Pharmacological Treatment to Increase the Life-Span of Ataxia-Telangiectasia Mice
Suming Wang, MD, PhD
Cell Cycle Events in Ataxia-Telangiectasia: Human and Mouse
Yan Yang, MD, PhD
The Role of ATM in the Mitochondrial Pathway of Apoptosis
Leman Yel, MD – University of California, Irvine
2002
A-T Clinical Center
Johns Hopkins University
Pilot Study: Evaluating the Relative Radiation Sensitivity of ATM Functional & ATM Inactive Human Cell Lines After Treatment With Small-Molecule Modulators
SRI International
Glucocorticoid Mimics Functional ATM Kinase to Prevent Thymic Lymphoma Development in Atm -/- Mice
Mingshan Yan, MD – University of Texas MD Anderson Cancer Center
A Drosophila Model for Ataxia-Telangiectasia
Shelagh Diane Campbell, PhD – University of Alberta
Understanding ATM
Yossi Shiloh, PhD – Tel Aviv University
Induction for Hematopoietic Chimerism for Treatment of Immune System Defects in Ataxia-Telangiectasia
John Iacomini, PhD – Massachusetts General Hospital
Creation of a Transgenic Porcine Model of A-T
Christopher Counter, PhD – Duke University
A Novel Alternative Model System for Identifying Candidate Therapeutics for Ataxia-Telangiectasia
Shuji Kishi, MD, PhD – Dana-Farber Cancer Institute
Experimental Gene Therapy for Ataxia-Telangiectasia
Xandra O. Breakefield, PhD – Massachusetts General Hospital
Effect of EUK – 189 on Motor Performance (Rotarod), Oxidative Damage Markers, and Survival in ATM Knockout Mice
M. Flint Beal, MD – Cornell University Medical College
Linking ATM and Breast Cancer
Kevin D. Brown, PhD – Louisiana State University Health Sciences Center
Telomeres, Telomerase and Lifespan of Brain Cells of ATM Null Mice
Tej K. Pandita, PhD – Washington School of Medicine
2001
A-T Clinical Center
Johns Hopkins University
Overlapping Functions of ATM and ATX in Genome and RNA Surveillance
Robert T. Abraham, PhD – Burnham Institute
Molecular Basis of Pleiotropic Phenotypes of Ataxia-Telangiectasia
Jun Qin, PhD – Baylor College of Medicine
Understanding ATM – Multi-year Grant
Yossi Shiloh, PhD – Tel Aviv University
Strain Background Effects on Atm Nullizygosity
Michael M. Weil, PhD – University of Texas MD Anderson Cancer Center
Identification of Novel ATM-RAD 17 Associated Proteins that Function as Regulators or Downstream Targets
Xiao-Fan Wang, PhD – Duke University Medical Center
Telomeres, Telomerase and Lifespan of Brain Cells of ATM Null Mice
Tej K. Pandita, PhD – Columbia University
Effect of loss of ATM on Glial Cell Function
Martin F. Lavin, PhD – Queenslands Institute of Medical Research
2000
A-T Clinical Center
Johns Hopkins University
Experimental Gene Therapy for A-T Using HSV Amplicon Vectors
Xandra Breakefield, PhD – Massachusetts General Hospital
ATM Gene Transfer for Ataxia-Telangiectasia by a Novel Herpes Amplicon Vector
Suming Wang, MD, PhD – Human Gene Therapy Research Institute
Development of DNA Diagnostic Test for the Ataxia-Telangiectasia (ATM) Gene
A-T Clinical Center at Johns Hopkins University
Neurologic Pathophysiology of Ataxia-Telangiectasia
A-T Clinical Center at Johns Hopkins University
Understanding ATM – Multi-year Grant
Yossi Shiloh, PhD – Tel Aviv University
Molecular Role of Oxidative Stress in Cerebellar Degeneration in A-T
Ari Barzilai, PhD – Tel Aviv University
Mouse Ataxia-Telangiectasia Intervention Study
M. Flint Beal, MD – Cornell University Medical College
Ataxia-Telangiectasia: An Assessment of Global Biochemical Abnormalities
David S. Lawrence, PhD – Albert Einstein College of Medicine
Production of ATM Gene-Targeted Pigs and Cattle by Nuclear Transfer from Cultured Fibroblast Cells
Steven Stice, PhD – University of Georgia
1999
A-T Clinical Center
Johns Hopkins University
Neural Autoantibodies in the Sera of A-T Patients
Robert B. Darnell, MD, PhD – Rockefeller University
Mechanisms of Cytokine-Mediated Neuroprotection in ATM Mutant Mice
Lorise C. Gahring, PhD – University of Utah School of Medicine
Regulation of the Aspergillus DNA Damage Response by Suppressors of ATM Kinase Mutations
Steven D. Harris, PhD – University of Connecticut Health Center
ATR-Activating Therapy for Ataxia-Telangiectasia
Robert T. Abraham, PhD – Duke University Medical Center
Ataxia-Telangiectasia: Activation of Cytoprotective Signaling Pathways
David S. Lawrence, PhD – The Albert Einstein College of Medicine
Neural Stem Cell Transplantation in Animal Models of A-T
Evan Y. Snyder, MD, PhD – Children’s Hospital Boston
Generation of Immunological Reagents to Atm, the Mouse Homolog of the ATM Gene Product
Kevin D. Brown, PhD – Louisiana State University Medical Center
Molecular Basis of Pleiotropic Phenotypes of Ataxia-Telangiectasia
Jun Qin, PhD – Baylor College of Medicine
Development of Improved Protective Strategies Against Free Radical Damage in Ataxia-Telangiectasia
Michael H.L. Green, PhD – University of Brighton
Cloning the Murine Atm Gene
Suming Wang, MD, PhD – Human Gene Therapy Research Institute
A Primate Model for Ataxia-Telangiectasia
Don Wolf, PhD – Oregon Health Sciences University
DNA Damage Signaling in ATM-/- Neurons
Herbert M. Geller, PhD – University of Medicine and Dentistry of New Jersey – Robert Wood Johnson Medical School
1998
A-T Clinical Center
Johns Hopkins University
Ocular Manifestations of Ataxia-Telangiectasia – A Prospective Study
Arman K. Farr, MD – The Wilmer Ophthalmological Institute
Characterization of ATM Kinase Activity
Yossi Shiloh, PhD – Tel Aviv University
Use of Atm Deficient and Atm/Rag2 Deficient Mice to Assess Abnormalities in Eye Movements and Associated Brain Pathology
Carrolee Barlow, MD, PhD – The Salk Institute for Biological Studies
Defects in Cerebellar Purkinje Cell Properties May Underlie Ataxias in Ataxia-Telangiectasia
Peter H. Reinhart, PhD – Duke University Medical Center
Brain Pathology in ATM-deficient Mouse: Correlating Structure and Functions
Menahem Segal, PhD – The Weizmann Institute
Gene Therapy for Ataxia-Telangiectasia by a Novel Herpes Amplicon Vector
Suming Wang, MD, PhD – Human Gene Therapy Research Institute
Defining a Minimal Functional Domain Within the ATM Gene Product
Kevin D. Brown, PhD – Louisiana State University Medical Center
Molecular Mechanism of Cerebellar Degeneration in A-T
Ari Barzilai, PhD – Tel Aviv University
Role of the Extranuclear ATM Protein in Neuronal Function
Martin F. Lavin, PhD – Queensland Institute of Medical Research
Biochemical Analysis of the Ataxia-Telangiectasia Gene Product ATM and Its Relative ATR
Stephen P. Jackson, PhD – University of Cambridge
1997
A-T Clinical Center
Johns Hopkins University
Experiments on Ectopic Expression of the ATM Protein and the Production of Polyclonal and Monoclonal Antibodies Against the ATM Protein
Yossi Shiloh, PhD – Tel Aviv University
ATM in Neurodegeneration
Eva Y.-H.P. Lee, MD, PhD – University of Texas Health Science Center
Role of Purkinje Cell Specific Interacting Partners in ATM Function
Ines Ibanez-Tallon, PhD – The Rockefeller University
Nitric Oxide-Synthesizing Neurons in Pathology of A-T
Rodrigo O. Kuljis, MD – University of Miami School of Medicine
Oxidative Stress and Antioxidants in Ataxia-Telangiectasia
Gerald Cohen, PhD – Mount Sinai School of Medicine
ATM-related Checkpoint Pathway in Saccharomyces cerevisiae
David F. Stern, PhD – Yale University School of Medicine
Contribution of Reactive Oxygen Species to Neuronal Vulnerability in Ataxia-Telangiectasia
Laura L. Dugan, MD – Washington University School of Medicine
Functions of ATM Protein in Neurodevelopment
Rosalind A. Segal, MD, PhD – Beth Israel Deaconess Medical Center
Responses to DNA Damage in Cerebellar Neurons of Atm Mice
Piergiorgio Strata, MD, PhD – University di Torino
Poly (ADP-ribose) Polymerase and Oxidative Stress in Ataxia-Telangiectasia
Joe M. McCord, PhD – University of Colorado Health Sciences Center
Mechanisms of Neuronal Pathogenesis in Ataxia-Telangiectasia
Yang Xu, PhD – University of California, San Diego
1996
A-T Clinical Center
Johns Hopkins University
Translational Regulation of ATM Expression
Orna Elroy-Stein, PhD – Tel Aviv University
Purkinje Cell Development in Genetic Murine Model of Ataxia-Telangiectasia: Effects of Atm Gene Knock-out Purkinje Cell Morphogenesis, Survival and Responsiveness to Neurotrophic Factors
Howard T.J. Mount, PhD – Robert Wood Johnson Medical School
The Mechanism of Neurodegeneration in Ataxia-Telangiectasia
Peter J. McKinnon, PhD – St. Jude Children’s Research Hospital
Purification and Biochemical Analysis of the Ataxia-Telangiectasia Gene Product and Identification of Accessory Proteins
Stephen P. Jackson, PhD – University of Cambridge
A Mouse Model for Ataxia-Telangiectasia
David Baltimore, PhD – Massachusetts Institute of Technology
1995
A-T Clinical Center
Johns Hopkins University
Characterization of the Saccharomyces cerevisiae Homologues, HAT1 and MEC1, of the Human Gene ATM Mutated in Ataxia-Telangiectasia
Dwight M. Morrow, PhD – John Hopkins University
Ataxia-Telangiectasia: From Gene Back to Phenotype
Yossi Shiloh, PhD – Tel Aviv University
MEC1: Understanding its Multiple Functions in Yeast and Relevance to ATM
Ted Weinert, PhD – University of Arizona
The Drosophila mei-41 Gene: An Animal Model for Ataxia-Telangiectasia
Scott Hawley, PhD – University of California at Davis
1994
Complementation of A-T Radioresistant DNA Synthesis by Human Gene Transfer
Timothy J. Jorgensen, PhD – Georgetown University Medical Center
Cloning of genes involved in the induction of neuronal death
Santosh D’Mello, PhD – University of Connecticut
Mechanisms of Neuronal PCD
Eugene M. Johnson, PhD – Washington University Medical School
Lymphocyte Biology and Epstein-Barr Virus Activation in Ataxia-Telangiectasia
Donald E. Mosier, MD, PhD – Scripps Research Institute
Protein Kinase C and the A-T Dependent Response to Ionizing Radiation
Michael Christman, PhD – University of California, San Francisco
Complementation of A-T Groups and A-T Gene Function
Michael B. Kastan, MD, PhD – Johns Hopkins Oncology Center
Localization of the A-T Gene
Aslihan Tolun, PhD – Bogazici University (Collaboration with Patrick Concannon)
1993
Ataxia-Telangiectasia, From Phenotype to Genes
Yossi Shiloh, PhD – Tel Aviv University
Anomalies in Cell Cycle Control in Ataxia-Telangiectasia Post-irradiation
Martin F. Lavin, PhD – Queensland Institute of Medical Research
Characterization of a Candidate Gene for Ataxia-Telangiectasia
Leon Kapp, PhD – SRI International
Isolation and Functional Characterization of the Gene for Ataxia-Telangiectasia
Glen A. Evans, MD, PhD – Salk Insitute for Biological Studies
Cloning the Ataxia-Telangiectasia Gene
Michael Swift, MD – New York Medical College
Isolation of a Gene for Ataxia-Telangiectasia
Richard A. Gatti, MD – UCLA School of Medicine
Isolation of Ataxia-Telangiectasia Genes by cDNA Complementation
Stephen Meyn, MD, PhD – Yale University School of Medicine
Molecular Analysis of Cellular Responses to Ionizing Radiation in Ataxia-Telangiectasia
Kathleen Dixon, PhD – University of Cincinnati