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