Funded Projects

Since 2014, CCXDP has supported groundbreaking new studies of XDP at institutions throughout the world. Working as a global coalition, our investigators are performing cutting edge basic and clinical research to find new methods of treating this neurodegenerative disease.

  • Identify disease targets and perturbagens that modulate XDP-disease phenotypes with robotic microscopy, deep learning and OMICS in human in vitro XDP cell models
    • Leslie Thompson, PhD, University of California Irvine
    • Steven Finkbeiner, MD, PhD, Gladstone Institutes
  • A synthetic genomics approach to investigate the XDP/TAF1 locus
    • Jef Boeke, PhD, NYU Grossman School of Medicine
  • A novel XDP patient derived induced neuronal model to study the neuron specific effects of the SVA insertion
    • Vivien Horvath, PhD, Lund University, Sweden
  • The role of Olig2 transcription factor in striosome development, function, and X-linked dystonia parkinsonism 
    • Michelle Ehrlich, MD, Icahn School of Medicine at Mt. Sinai
  • Phenotypic analysis of a conditional humanize mouse mode of XDP
    • Michelle Ehrlich, MD, Icahn School of Medicine at Mt. Sinai
  • Molecular Mechanism and Therapeutic Targets of X-Linked Dystonia Parkinsonism
    • Lisa Ellerby, PhD, Buck Institute for Research on Aging
  • Elucidating the role of SVA-derived RNA in XDP
    • Jennifer Erwin, PhD, Johns Hopkins School of Medicine, Lieber Institute
    • Apua Paquola, PhD, Lieber Institute for Brain Discovery
  • Novel mouse models for the analysis of X-Linked Dystonia Parkinsonism
    • Elizabeth Fisher, PhD, University College London
    • Elizabeth Simpson, PhD, University of British Columbia
    • Ben Davies, PhD, University of Oxford
    • Sara Welles, PhD, MRC Mary Lyon Centre, Harwell, UK
  • A Drosophila Taf1 knockdown model for rapid testing of genetic interactions and therapeutic interventions
    • Naoto Ito, PhD,  Massachusetts General Hospital
    • Kristin White, PhD, Massachusetts General Hospital
  • Towards targeted neutralization of the XDP disease-causing SVA in XDP-patient cells (phase II)
    • Frank Jacobs, PhD, University of Amsterdam, The Netherlands
  • SVA-mediated chromatin re-organization in XDP
    • Johan Jakobsson, PhD, Lund University Stem Cell Center, Sweden
  • Novel AAV-compatible CRISPR gene editors for XDP SVA excision gene therapy
    • Keith Joung, MD, PhD, Massachusetts General Hospital, Harvard Medical School
  • Defining a Lipidomic Signature for XDP
    • Kim Kegel-Gleason, PhD, Massachusetts General Hospital
  • Phenotyping novel engineered XDP/TAF1 mice at the behavioral and cell level
    • Shane A. Liddelow, PhD, NYU Grossman School of Medicine
    • Adam Mar, PhD, NYU Grossman School of Medicine
    • Nicolas Tritisch, PhD, NYU Grossman School of Medicine
  • Biostatistical analysis of X-Linked Dystonia-Parkinsonism
    • Jeffrey Miller, PhD, Harvard T.H. Chan School of Public Health
  • Leveraging novel AAV capsids and CRISPR/Cas9 gene editing as a gene therapeutic approach to target the XDP-SVA
    • Casey Maguire, PhD,  Massachusetts General Hospital
  • Understanding pathophysiology in XDP using mosaicism
    • Steven McCarroll, PhD, Harvard Medical School
  • The molecular phenotype of human basal ganglionic neurons in XDP
    • Evan Macosko, PhD, The Broad Institute of Harvard and MIT
    • Charles Vanderburg, PhD, The Broad Institute of Harvard and MIT
  • Identification and refinement of therapeutic targets for XDP
    • Richard Novak, PhD, Unravel Biosciences, Inc
  • Investigating RNA- and RNA-binding protein mediated toxicity in iPSC-derived XDP cell culture models to potentially identify shared mechanisms with other dystonia types and neurodegenerative diseases
    • Rekha Patel, PhD, University of South Carolina
  • Mechanisms of Astrocyte Driven Pathology in X-Linked Dystonia Parkinsonism
    • Francisco Quintana, PhD, Brigham & Women’s Hospital
  • Presence and role of DNA and RNA G- and C-quadraplex structures in the pathogenesis of XDP
    • Sara Richter, PhD, University of Padua, Italy
  • The Neurochemistry and Neuropathology in the Basal Ganglia of XDP brains
    • Malvindar Singh-Bains, PhD, University of Auckland, New Zealand
    • Sir Richard Faull, MBChB, PhD, Dsc, FRSNZ, University of Auckland, New Zealand
  • Developing a cell-based system to screen compounds countering XDP-SVA mediated transcriptional repression
    • Marc Timmers, PhD, German Cancer Research Center (DKFZ), University Medical Center Freiburg
  • Somatic repeat instability as a modifier of XDP pathogenesis
    • Vanessa Wheeler, PhD, Massachusetts General Hospital
  • Defining genetic pathways underlying neurodegeneration in XDP patient-derived neurons
    • Andrew Yoo, PhD, Washington University
  • Profiling chromatin regulation of the XDP-specific SVA insertion by targeted proximity labelling and epigenomics
    • Christopher Douse, PhD, Lund University, Sweden
  • Creating a Novel Knock in Control and XDP Mouse Models
    • Elizabeth Fisher, PhD, University College of London
  • Deciphering the role of histone cirtullination and inflammation in XDP
    • Ghazaleh Sadri-Vakili, PhD, Massachusetts General Hospital
  • Dissecting the influence of the XDP-linked SVA insertion in the TAF1 locus on promoter-proximal pausing
    • Matthew Simon, PhD, Yale School of Medicine
  • The Neurochemistry and Neuropathology in the Basal Ganglia of XDP brains
    • Henry Waldvogel, PhD, University of Auckland, New Zealand
    • Sir Richard Faull, MBChB, PhD, Dsc, FRSNZ, University of Auckland, New Zealand
    • Malvindar Singh-Bains, PhD, University of Auckland, New Zealand
    • Edwin Munoz, PhD, University of the Philippines
    • Mark Ang, MD, University of the Philippines
  • The Role of Hexanucleotide Repeat Instability in the Pathogenesis of XDP
    • Vanessa Wheeler, PhD, Massachusetts General Hospital
  • Mechanistic insights into the role of a proposed novel genetic modifier of X-linked Dystonia-Parkinsonism
    • Ana Westenberger, PhD, University of Luebeck
    • Christine Klein, MD,  University of Luebeck
    • Aleksandar Rakovic, PhD, University of Luebeck
  • Identification of pathogenic mechanisms underlying neurodegeneration of XDP neurons generated by direct conversion of fibroblasts
    • Andrew Yoo, PhD, Washington University
  • Molecular and Cellular Mechanisms of XDP Using Patient-derived Neuronal Models
    • Leslie Thompson, PhD, University of CA-Irvine
    • Steven Finkbeiner, PhD, University of California, San Francisco, The Gladstone Institutes
  • Probing XDP Phenotype Using High-Content Imaging in iPSC-Derived Neurons
    • Brian Wainger, MD, PhD, Massachusetts General Hospital
  • Proteomic Analysis of XDP Medium Spiny Neurons Derived From Human iPSCs to Identify Key Molecular Determinants of XDP Neuropathogenesis
    • Kizito-Tshitoko Tshilenge, PhD, The Buck Institute for Research on Aging
  • Identification of a Network Biomarker in XDP
    • Martin Niethammer, MD, Feinstein Institute
    • Chris Tang, MD, PhD, Feinstein Institute
    • Jeffrey Waugh, MD, PhD, UT Southwestern
    • Dominic Jamora, MD, FPNA, University of the Philippines, Manila
  • Identification of New Modifier Genes of TAF1 Protein Expression
    • Philip Seibler, PhD, University of Luebeck, Germany
    • Aleksander Rakovic, PhD, University of Luebeck, Germany
  • Structural, Functional, and Electrophysiological Network Connectivity of Effective Deep Brain Stimulation in XDP
    • Todd Herrington, MD, PhD, Massachusetts General Hospital
    • Ziv Williams, MD, Massachusetts General Hospital
  • Towards Targeted Neutralization of the Disease-Causing SVA in XDP Brain Organoids
    • Frank Jacobs, PhD, University of Amsterdam, The Netherlands
  • Identifying Shared Disease Pathways via Genomics and Transcriptomics in Cellular Models of XDP and Related Dystonias
    • Aloysius Domingo, MD, PhD, Mass General Brigham
  • Does SVA Polymorphism Reduce Expression of TAF1 During Neural Development of XDP Patients Through KRAB-ZNF/TRIM28-mediated Heterochromatinization?
    • Johan Jakobsson, PhD, Lund University Stem Cell Center, Sweden
  • Presence and Role of DNA and RNA G- and C-quadruplex Structures in the Pathogenesis of XDP
    • Sara Richter, PhD, University of Padua, Italy
  • Comprehensive Characterization of XDP-specific Changes in RNA Metabolism Using TimeLapse-Seq
    • Matthew Simon, PhD, Yale School of Medicine
  • Harnessing X-Chromosome Inactivation and Retrotransposon Biology To Gain Insights Into XDP
    • Jennifer Erwin, PhD, Johns Hopkins School of Medicine, Lieber Institute
    • Apua Paquola, PhD, Lieber Institute for Brain Discovery
  • Connecting Aberrant Splicing and Transcription of the TAF1 Gene to the SVA-F Retrotransposon in XDP
    • Marc Timmers, PhD, German Cancer Research Center (DKFZ), University Medical Center Freiburg
  • Modeling X-Linked Dystonia–Parkinsonism Using Patient-derived Neurons through Direct Neuronal Reprogramming of Dermal Fibroblasts
    • Andrew Yoo, PhD, Washington University
  • Assessing histone modifications in XDP
    • Ghazaleh Sadri-Vakili, PhD, Massachusetts General Hospital
  • Characterization of Striatal Compartmental Transcriptomes and Transcription Factors in vivo and Application to XDP iPSC Biology
    • Michelle Ehrlich, MD, Icahn School of Medicine at Mt. Sinai
    • Lisa Ellerby, PhD, Buck Institute for Research on Aging
  • DTI Tractography of Striatal Connectivity in XDP: Relationship to Striatal Compartments and Disease Characteristics
    • Anne J. Blood, PhD, Massachusetts General Hospital
    • Norbert Brueggemann, MD University of Luebeck, Germany
  • Exploring Noncoding RNAs in XDP Using RNA-seq in Various Endogenous Models
    • Aloysius Domingo, MD, PhD, University of Luebeck, Germany
    • Christine Klein, MD University of Luebeck, Germany
    • Manuela Marz, PhD, University of Jena
  • Rapid drug discovery of TAF1 deficiency therapeutics in vivo
    • Richard Novak, PhD, Unravel Biosciences, Inc
    • Naoto Ito, PhD, Massachusetts General Hospital
  • Harnessing X-chromosome Inactivation to Gain Insights into XDP
    • Jennifer Erwin, PhD, Salk Institute
  • Creating a Novel Mouse Model with Human XDP Haplotype Towards Identifying and Characterizing the Causative Mutation
    • Elizabeth Fisher, PhD, University College of London
  • Response of DYT3 iPSC-derived Neurons to ER and Metabolic Stressors
    • Paul J. Gadue, PhD, Children’s Hospital of Pennsylvania
    • Pedro Gonzalez-Alegre, MD, PhD, University of Pennsylvania
  • Modeling XDP Using BAC Transgenesis
    • Michelle Gray, PhD, University of Alabama, Birmingham
  • Next Generation RNA Sequencing to Identify TAF-1 Splice Forms and Striosome-Enriched mRNAs
    • Ann Graybiel, PhD, Massachusetts Institute of Technology
    • Jill Crittenden, PhD, Massachusetts Institute of Technology
  • Advancing Genome Editing Technologies to Engineer Cell-based Models of XDP
    • J. Keith Joung, MD, PhD, Massachusetts General Hospital
  • Building up a Collaborative Resource of Biomaterials to Unravel the Genetic Cause and Molecular Pathways of XDP and to Enable Comprehensive –omics Approaches and Drug Screening
    • Christine Klein, MD and Philip Seibler, PhD, University of Luebeck, Germany
    • Eva Cutiongco-de la Paz, MD, University of the Philippines, Manila, National Institutes of Health Manila, Philippines
    • Mike Talkowski, PhD, Massachusetts General Hospital
  • Exploring Transcriptomopathy Syndromes Related to X-liked Dystonia-Parkinsonism and TAF1
    • Gholson Lyon, MD, PhD, Cold Spring Harbor Laboratory
    • Jesse Gillis, PhD, Cold Spring Harbor Laboratory
  • Evaluating the Role of Chromatin Modification and Altered Transcription as an Underlying Mechanism in X-linked Dystonia-Parkinsonism
    • Ghazaleh Sadri-Vakili, PhD, Massachusetts General Hospital
  • Novel Reference Free Assembly of the Panay Island Genome to Delineate the Genetic Architecture of XDP
    • Michael Talkowski, PhD, Massachusetts General Hospital
    • David B. Jaffe, PhD, Broad Institute of Harvard and MIT
    • Neil Weisenfeld, PhD, Broad Institute of Harvard and MIT
  • The International XDP Genomics Consortium: Integrative Genomic Studies of X-Linked Dystonia-Parkinsonism
    • Michael Talkowski, PhD, Massachusetts General Hospital
    • David B. Jaffe, PhD, Broad Institute of Harvard and MIT
    • Christine Klein, MD, University of Luebeck, Germany
    • Cristopher Bragg, PhD, Massachusetts General Hospital
  • Understanding the Molecular Basis of XDP
    • Marc Timmers, PhD, University Medical Center, Utrecht
  • iPSC-based Physiological Modeling in X-linked Dystonia-Parkinsonism (XDP)
    • Brian J. Wainger, MD, PhD, Massachusetts General Hospital
  • Assessment of Presymptomatic Stages of XDP
    • Anne J. Blood, PhD, Massachusetts General Hospital
    • Cid Diesta, MD, Makati Medical Center
      Norbert Brueggemann, MD, University of Luebeck, Germany
    • Jeff Waugh, MD, PhD, UT Southwestern
  • Pallidal Neurostimulation in XDP
    • Norbert Brueggemann, MD
      Christine Klein, MD, University of Luebeck, Germany
    • Dominic Jamora, MD, FPNA, University of the Philippines, Manila
  • Evaluating the Role of Chromatin Modification and Altered Transcription as an Underlying Mechanism in XDP
    • Ghazaleh Sadri-Vakili, PhD, Massachusetts General Hospital
  • Cell-Type Specific Basis of Striatal Degeneration Patterns in XDP
    • Jill Crittenden, PhD, MIT
  • Identifying Shared Disease Pathways via Genomics and Transcriptomics in Cellular Models of XPD and Related Dystonias
    • Jill Crittenden, PhD, MIT
    • Sir Richard Faull, KNZM, FRSNZ, University of Auckland
    • Henry Waldvogel, PhD, University of Auckland
  • Exploring the Interaction Between N-TAF Function and Neuronal Stress in Cultured Neurons and in vivo
    • Pedro Gonzalez, MD, PhD, University of Pennsylvania, Children’s Hospital of Philadelphia
  • Development of Epigenetic Editing Technologies for Research and Therapy of XDP
    • J. Keith Joung, MD, PhD, Massachusetts General Hospital
  • Examination of Hexanucleotide Repeat Instability and Modifiers of Age of Onset in XDP
    • Laurie Ozelius, PhD, Massachusetts General Hospital
    • Vanessa Wheeler, PhD, Massachusetts General Hospital
  • A Genomics Hub for Collaborative Studies of XDP
    • Michael Talkowski, PhD, Massachusetts General Hospital
    • Laurie Ozelius, PhD, Massachusetts General Hospital
    • Cristopher Bragg, PhD, Massachusetts General Hospital
  • Dynamics of the in vivo RNA Transcriptional/Translational Landscape in XDP Patient-specific Cells
    • Sherman M. Weissman, MD, Yale University School of Medicine
    • Anna M. Szekely, MD, Yale University School of Medicine
  • Identifying Physiological Markers of Speech and Swallowing Impairment Across Phenotypes in Individuals With XDP: A Longitudinal Study
    • Jordan Green, PhD, SSS-CLP, MGH Institute for Health Professions
  • A synthetic genomics approach to investigate the XDP/TAF1 locus
    • Jef Boeke, PhD, NYU Grossman School of Medicine
  • Developmental, Behavioral, and Transcriptomic Characterization of the Postnatal and Adult Striatum Following Selective Total- or N-Taf1 knockdown
    • Michelle Ehrlich, MD, Mt. Sinai School of Medicine

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