Ongoing Projects

Towards targeted neutralization of the disease-causing SVA in XDP brain organoids

Frank Jacobs, PhD, University of Amsterdam, The Netherlands


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


Biostatistical analysis of X-linked Dystonia Parkinsonism

Jeffrey Miller, PhD, Harvard T.H. Chan School of Public Health


Presence and role of DNA and RNA G- and C-quadruplex structures in the pathogenesis of XDP

Sara Richter, PhD, University of Padua, Italy


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


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


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


Identification of new modifier genes of TAF1 protein expression

Philip Seibler, PhD, University of Luebeck, Germany

Aleksander Rakovic, PhD, University of Luebeck, Germany


Comprehensive characterization of XDP-specific changes in RNA metabolism using TimeLapse-Seq

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


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


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


Probing XDP phenotype using high-content imaging in iPSC-derived neurons

Brian Wainger, MD, PhD, Massachusetts General Hospital


The role of hexanucleotide repeat instability in the pathogenesis of XDP

Vanessa Wheeler, 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


Cell-type specific basis of striatal degeneration patterns in XDP

Jill Crittenden, PhD, MIT


Evaluation of new C-TAF1 and N-TAF1 antisera by immunohistology in normal human brain sections

Jill Crittenden, PhD, MIT
Sir Richard Faull, KNZM, FRSNZ, University of Auckland
Henry Waldvogel, PhD, University of Auckland


Identifying shared disease pathways via genomics and transcriptomics in cellular models of XDP and related dystonias

Aloysius Domingo, MD, PhD, Massachusetts General Hospital


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


Creating a Novel Knock In Control and XDP Mouse Models

Elizabeth Fisher, PhD University College of London


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


Evaluating the Role of Chromatin Modification and Altered Transcription as an Underlying Mechanism in XDP

Ghazaleh Sadri-Vakili, 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


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


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


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


Modeling X-Linked Dystonia–Parkinsonism using Patient-derived Neurons through Direct Neuronal Reprogramming of Dermal Fibroblasts

Andrew Yoo, PhD, Washington University


Completed Projects

Characterization of Striatal Compartmental Transcriptomes and Transcription Factors In Vivo and Application to XDP iPSC Biology

Michelle Ehrlich, MD, Ichan 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 iPS-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