First Pitt Hopkins Research Symposium, MIT
The first ever Pitt Hopkins Research Symposium was held September 19, 2014 at the Whitehead Institute for Biomedical Research at MIT.
The event was attended by 60 researchers and parents alike, each side gaining a new perspective on this syndrome that plays such a critical role in many of our lives. In just two years, researchers from all over of the United States and the world have made incredible strides in the field, and have fostered much hope for new discoveries to come. Seventeen researchers presented talks detailing remarkable projects, ranging from studying patient-derived stem cell models of TCF4 haploinsufficiency to behavioral tests on TCF4 (+/-) mouse models.
Symposium Agenda
Welcome
Audrey Davidow Lapidus
President, Pitt Hopkins Research Foundation Board of Directors
Opening Remarks
J. David Sweatt, Ph.D, Professor
Evelyn F. McNight Endowed Chair
Director, Evelyn F. McKnight Brain Institute
University of Alabama at Birmingham
Session I: Neurobiology of TCF4, Co-Chairs: Diane Krell and Cristin Gavin, PhD (Sweatt Lab)
The Neurobiology of Pitt-Hopkins Syndrome
J. David Sweatt, Ph.D, Professor
Evelyn F. McKnight Endowed Chair
Director, Evelyn F. McKnight Brain Institute
University of Alabama at Birmingham
The Tcf4 (+/-) Mouse as a Platform for Therapeutic Development to Treat Pitt-Hopkins Syndrome
Andrew Kennedy, Ph.D. (Sweatt Lab)
Department of Neuroscience and Evelyn F. McKnight Brain Institute
University of Alabama Birmingham
Small Molecule-mediated Modulation of Wnt Signaling and Histone Deacetylase Activity Affects Expression of Specific TCF4 Isoforms in Human Neuronal Progenitor Cells
Krista Hennig, Ph.D. (Haggarty Lab)
Massachusetts General Hospital, Harvard Medical School
Session II: Molecular Studies of TCF4, Co-Chairs: Becky Burdine and Brad Carter, Ph.D. (Sive Lab)
Identification of genetic and molecular targets for Pitt-Hopkins Therapeutics
Courtney Thaxton, Ph.D. (Philpot Lab)
UNC Neuroscience Center, UNC School of Medicine
Signaling Pathways and Compounds Regulating Transcriptional Activity and Phosphorylation of TCF4 Protein in Neurons
Tonis Timmusk, Ph.D.
Department of Gene Technology
Tallinn University of Technology
Transcription factor 4 (TCF4) Isoforms Regulate the Expression of Different Genes in Neuroblastoma cells
Derek J. Blake, Ph.D., Professor
Institute of Psychological Medicine and Clinical Neurosciences
MRC Centre for Neuropsychiatric Genetics and Genomics
Cardiff University, School of Medicine
Gene Awakenings for the Treatment of Neurodevelopmental Disorders
Ben Philpot, Ph.D., Assistant Professor
UNC Neuroscience Center
UNC School of Medicine
Session III: Model Systems, Co-Chairs: Nicole Lenzen and Krista Hennig, Ph.D. (Haggarty Lab)
TCF4 Dosage is Critical to Proper Form and Function of the Developing Prefrontal Cortex
Brady J. Maher, Ph.D., Assistant Professor
Department of Psychiatry
Lieber Institute for Brain Development
Johns Hopkins
Developing Tools for the Identification of the Target Genes of TCF4
Silvia De Rubeis, Ph.D. (Buxbaum Lab)
Department of Psychiatry
Mount Sinai Icahn School of Medicine
Characterization and Therapeutic Screening of Pitt-Hopkins Syndrome using the Zebrafish
Hazel Sive, Ph.D., Professor
Whitehead Institute for Biomedical Research
MIT Department of Biology
Neuromuscular, Motor, and Pain Phenotypes in a Mouse Model of Pitt-Hopkins Syndrome
Elizabeth Rahn, Ph.D. (Sweatt Lab)
Department of Neuroscience and Evelyn F. McKnight Brain Institute
University of Alabama at Birmingham
Session IV: Clinical and Translational Studies, Co-Chairs: Sue Routledge and Stephanie Page, Ph.D. (Maher Lab)
Modeling the Pathophysiology & Treatment of Pitt-Hopkins Syndrome Using Patient-Derived Stem Cell Models
Stephen J. Haggarty, Ph.D.
Massachusetts General Hospital,
Harvard Medical School
Pitt-Hopkins Syndrome: Delineation of the Phenotype and Natural History using and Online Questionnaire
Melanie Baas, MSc
Department of Paediatrics and Translational Genetics, AMC
University of Amsterdam, the Netherlands
Infrastructure for the Clinical Assessment of Individuals with TCF4 Mutations or Deletions: The Chromosome 18 Clinical Research Center
Janine Cody, PhD
Professor, Department of Pediatrics
Director, Chromosome 18 Clinical Research Center UT Health Science Center
Clinical Characteristics of Individuals of TCF4 Mutations or Deletions
Daniel E. Hale, MD
Professor, Department of Pediatrics
Chief, Division of Endocrinology and Metabolism
Medical Director, Chromosome 18 Clinical Research Center
The X-linked Intellectual Disability Protein PHF6 Regulates Neuronal Migration in the Mammalian Brain
Chi Zhang, Ph.D. (Church Lab)
Harvard University
Closing Remarks
Studying Differences in the Lamination of the Cortex by Staining Cortical Brain Slices of TCF4 (+/-) Mouse Models, and a sincere thank you to all PTHS Researchers who have devoted their time to our cause
Sofia Pauca, sibling of a child with Pitt Hopkins Syndrome
