Funded Projects
Ongoing Projects
Parallel recombineering of the XDP TAF1 locus for human cell systems and for mouse models
Marc Timmers, PhD, German Cancer Research Center (DKFZ), University Medical Center Freiburg
Weimin Zhang, PhD, NYU Grossman School of Medicine
Silencing the impact of the hexameric repeat associated with XDP in the Taf1 gene
Markus Noyes, PhD, NYU
Quantifying global SVA and G-rich short tandem repeat RNA levels in X-linked Dystonia Parkinsonism ventral forebrain organoids and post-mortem brain tissue using a hybrid sequencing approach
Alan Lorenzetti, PhD Lieber Institute for Brain Discovery
Processing, diagnostic pathology and storage of XDP brains for future research
Malvindar Singh Bains, PhD, University of Auckland, New Zealand
Richard Faull MBChB, PhD, Dsc, FRSNZ, University of Auckland, New Zealand
Identification and therapeutic use of G4-processing proteins in XDP
Sara Richter, PhD, University of Padua, Italy
Phenotyping novel engineered XDP/TAF1 mice at the behavioral and cell level
Shane A. Liddelow, PhD, Grossman School of Medicine NYU
Adam Mar, PhD, Grossman School of Medicine NYU
Nicolas Tritsch, PhD, Grossman School of Medicine NYU
Phenotypic analysis of a conditional humanized mouse model of X-linked Dystonia Parkinsonism
Michelle E. Ehrlich, MD, Icahn School of Medicine at Mt. Sinai
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, Mt. Sinai School of Medicine
Molecular Mechanism and Therapeutic Targets of X-Linked Dystonia Parkinsonism
Lisa Ellerby, PhD Buck Institute
Elucidating the role of SVA-derived RNA in XDP
Jennifer Erwin, PhD Lieber Institute for Brain Discovery
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, The Francis Crick Institute
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
Defining a Lipidomic Signature for XDP
Kim Kegel-Gleason, PhD, Massachusetts General Hospital
Biostatistical analysis of X-Linked Dystonia-Parkinsonism
Jeffrey Miller, PhD, Harvard School 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
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
Completed Projects
Profiling chromatin regulation of the XDP-specific SVA insertion by targeted proximity labelling and epigenomics
Christopher Douse, PhD, Lund University, Sweden
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
Novel AAV-compatible CRISPR gene editors for XDP SVA excision gene therapy
Keith Joung, MD, PhD, Massachusetts General Hospital, Harvard Medical School
Rapid drug discovery of TAF1 deficiency therapeutics in vivo
Richard Novak, PhD, Unravel Biosciences, Inc
Naoto Ito, PhD, UT Massachusetts General Hospital
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
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 Aging Research
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, Lieber Institute for Brain Discovery
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
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