Heart and Soul Brain, Behavior, and Cardiovascular Gene Dosage Effects in 7q11.23 and 22q11.2 CNVs

NIMH and NHLBI Heart and Soul Workshop

Event Details

April 02, 2019
to
April 03, 2019
Porter Neuroscience Building 35A
NIH Campus, Bethesda, MD

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Description

Heart and Soul, Brain Behavior and Cardiovascular Gene Dosage Effects in 7q11.23 and 22q11.2 CNVs:
Williams-Beuren and 22q11.2 deletion/duplication syndromes in focus

Online registration will be open until 11:59 PM (EST) on Tuesday, 3/26/19. Onsite registration will be available throughout the event.

Abstract submission portal is now closed.The Heart and Soul workshop will bring together world experts on gene dosage effects in brain and cardiac development. Copy number variations in 7q11.23 (Williams Syndrome and the Duplication 7 syndrome) as well as in 22q11.2 (deletion and duplication syndromes) will serve as model conditions for this discussion. Speakers and participants will describe genotype-phenotype links, the molecular mechanisms by which gene dosage results in the syndrome phenotypes, and potential for therapeutic intervention, thus providing a rich and unique learning environment.

Trainees are welcome to attend and are encouraged to present. Short presentations will be selected from abstracts and a poster session is planned. Abstract awards will also be given.

Organizers

  • Dr. Beth Kozel, Investigator and Lasker Clinical Research Scholar, Chief, Laboratory of Vascular and Matrix Genetics, NHLBI, Intramural Research Program
  • Dr. Karen Berman, Senior Investigator & Chief, Clinical and Translational Neuroscience Branch, NIMH, Intramural Research Program

Speakers and Session Chairs:

  • Dr. Christopher Austin, National Center for Advancing Translational Sciences, NIH
  • Dr. Antonio Baldini, Consiglio Nationale delle Ricerche
  • Dr. Anne Bassett, , University of Toronto
  • Dr. Carrie Bearden, University of California, Los Angeles
  • Dr. Karen Berman, National Institute of Mental Health, NIH
  • Dr. Jennifer Blackford, Vanderbilt University
  • Dr. Manfred Boehm, National Heart, Lung, and Blood Institute, NIH
  • Dr. Caroline Burns, Harvard Medical School/Massachusetts General Hospital
  • Dr. R. Thomas Collins, Stanford University
  • Dr. William Gahl, National Human Genome Research Institute, NIH
  • Dr. William Gaynor, Children's Hospital of Pennsylvania
  • Dr. Elizabeth Goldmuntz, Children's Hospital of Pennsylvania
  • Dr. Joshua Gordon, National Institute of Mental Health, NIH
  • Dr. Eric Green, National Human Genome Research Institute, NIH
  • Dr. Daniel Greif, Yale School of Medicine
  • Dr. Raquel Gur, University of Pennsylvania
  • Dr. Robert Hufnagel, National Eye Institute, NIH
  • Dr. Beth Kozel, National Heart, Lung, and Blood Institute, NIH
  • Dr. Anthony LaMantia, George Washington University
  • Dr. Thomas Lehner, National Institute of Mental Health, NIH
  • Dr. Bruno Marino, University of Rome
  • Dr. Andrew Matisoff, Children's National Health Center
  • Prof. Donna McDonald-McGinn, Children’s Hospital of Pennsylvania
  • Dr. Robert Mecham, Washington University School of Medicine
  • Dr. Carolyn Mervis, University of Louisville
  • Dr. Bernice Morrow, Albert Einstein College of Medicine
  • Dr. Lucy Osborne, University of Toronto
  • Dr. Elaine Ostrander, National Human Genome Research Institute, NIH
  • Dr. Barbara Pober, Harvard Medical School/Massachusetts General Hospital
  • Dr. Silvia Racedo, Albert Einstein College of Medicine
  • Dr. Armin Raznahan, National Institute of Mental Health, NIH
  • Dr. Michael Shoykhet, Children’s National Medical Center
  • Dr. Helen Tager-Flusberg, Boston University
  • Dr. Audrey Thurm, National Institute of Mental Health, NIH
  • Dr. Zsolt Urban, University of Pittsburgh
  • Dr. Jacob Vorstman, Hospital for Sick Children
  • Dr. Stephanie Ware, Indiana University School of Medicine

Contact

For questions related to the meeting, please contact:

Agenda

8:00 am
-
Registration

8:30 am
-
Opening Remarks

Karen F. Berman, MD, National Institute of Mental Health

8:35 am
-
From Human Chromosome 7 to The Forefront of Genomics: A Personal Journey

The Study of Rare Disease
Moderator: Karen F. Berman, MD

Eric D. Green, MD, PhD, National Human Genome Research Institute

 

9:05 am
-
The Genetic and Phenotypic Architecture of Rare Genetic Disorders: Opportunities in the Era of Team Science

The Study of Rare Disease
Moderator: Karen F. Berman, MD

Thomas Lehner, PhD, MPH, National Institutes of Mental Health

9:20 am
-
Two Differing Sides of the Same Coin: Deletion 7q11.23 (Williams syndrome) versus Duplication 7q11.23

Introduction to Copy Number Variation in 7q11.23 and 22q11.2
Moderator: Helen Tager-Flusburg, PhD

Barbara R. Pober, MD, Massachusetts General Hospital/Harvard Medical School

9:55 am
-
22q11.2—A Tiny Piece Leading to a Big Picture

Introduction to Copy Number Variation in 7q11.23 and 22q11.2
Moderator: Helen Tager-Flusburg, PhD

Donna McDonald-McGinn, MS, CGC, The Children’s Hospital of Philadelphia

10:30 am
-
Coffee break

10:50 am
-
Neurodevelopmental Phenotypes of Children with Classic Deletions or Duplications of the Williams Syndrome Region: Effects of Gene Dosage

Clinical Forum 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD

Carolyn B. Mervis, PhD, University of Louisville

11:10 am
-
The Pediatric Psychiatric Phenotype of the 22q11.2 Deletion

Clinical Forum 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD

Jacob Vorstman, PhD, The Hospital for Sick Children

11:30 am
-
Modifiers of Schizophrenia Risk in the Presence of a 22q11.2 Deletion

Clinical Forum 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD

Anne Bassett, MD, FRCPC, University of Toronto

11:50 am
-
Maternal Origin of Familial 22q11.2 Deletions Negatively Impacts FSIQ Scores

Data Blitz 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD

Daniel McGinn, BS, The Children’s Hospital of Philadelphia

12:00 pm
-
Correlation of Congenital Heart Disease Severity with Developmental Outcomes in Patients with 22q11.2 Deletion Syndrome

Data Blitz 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD

Elaine H. Zackai, MD, The Children’s Hospital of Philadelphia

12:10 pm
-
Questions

Data Blitz 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD

12:15 pm
-
Lunch/Poster Session

1:10 pm
-
Gtf2i Gene Dosage Impacts Brain Development and Function

Model Systems 1 (7q11.23)
Moderator: Zsolt Urban, PhD

Lucy R. Osborne, PhD, University of Toronto

1:40 pm
-
Genetics and Behavior Studies in the Domestic Dog Informs Human Health

Model Systems 1 (7q11.23)
Moderator: Zsolt Urban, PhD

Elaine A. Ostrander, PhD, National Human Genome Research Institute

2:10 pm
-
Effects of Elastin Over- and Under-expression on Cardiovascular Development and Function

Model Systems 1 (7q11.23)
Moderator: Zsolt Urban, PhD

Robert Mecham, PhD, Washington University School of Medicine at St. Louis

2:40 pm
-
Zebrafish Elastin A is Required for Cardiac Valve Development

Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD

Zsolt Urban, PhD, University of Pittsburgh

2:50 pm
-
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD

Andrew Tebbenkamp, PhD, Yale University School of Medicine

3:00 pm
-
Modeling WBS-related Gene Dosage Effects on Neuronal and Behavioral Traits in Drosophila

Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD

Yehuda Ben-Shahar, PhD, Washington University

3:10 pm
-
Questions

Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD

3:15 pm
-
Coffee Break

3:35 pm
-
Mechanisms of Working Memory Dysfunction in a Mouse Model of 22q11 Hemizygosity

Model Systems 2 (22q11.2)
Moderator: Silvia Racedo, PhD

Joshua Gordon, MD, PhD, National Institute of Mental Health

4:05 pm
-
Cortical Under-connectivity and Oxidative Stress: Is There a Heart in this Matter?

Model Systems 2 (22q11.2)
Moderator: Silvia Racedo, PhD

Anthony LaMantia, PhD, The George Washington School of Medicine and Health Sciences

4:35 pm
-
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11 Deletion Syndrome

Model Systems 2 (22q11.2)
Moderator: Silvia Racedo, PhD

Caroline E. Burns, PhD, Massachusetts General Hospital/Harvard Medical School

5:05 pm
-
Catalyzing Translational Innovation in Rare Disease Research

Translation 1: Small Molecule Screening for Rare Disease
Moderator: Beth Kozel, MD, PhD

Christopher P. Austin, MD, National Center for Advancing Translational Sciences

5:30 pm
-
Conclusion

Karen F. Berman, MD
National Institute of Mental Health

Beth Kozel, MD, PhD
National Heart, Lung, and Blood Institute

8:00 am
-
Registration

8:30 am
-
Opening Remarks

Beth Kozel, MD, PhD, National Heart, Lung, and Blood Institute

8:35 am
-
Human and Mouse Genetic Studies of 22q11.2 Deletion Syndrome

Cardiac Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Manfred Boehm, MD

Bernice E. Morrow, PhD, Albert Einstein College of Medicine

9:05 am
-
22 Deletion Syndrome: Types and Sub-types of Cardiac Defects, Surgical Prognosis and Cardiac Function

Cardiac Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Manfred Boehm, MD

Bruno Marino, MD, Sapienza University of Rome

9:35 am
-
Of Mice and Men, Cardiovascular Disease in Williams Beuren Syndrome

Cardiac Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Manfred Boehm, MD

Beth Kozel, MD, PhD, National Heart, Lung, and Blood Institute

10:05 am
-
Peripheral Pulmonary Artery Stenosis in Williams Syndrome: A Role for Serotonin?

Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD

R. Thomas Collins, MD, Stanford University

10:15 am
-
Human and Mouse Genomic Studies Point to Extracellular Matrix and Immune Pathways as Modifiers of Cardiovascular Phenotype Severity in Williams Beuren Syndrome

Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD

Phoebe Parrish, BS, National Heart, Lung, and Blood Institute

10:25 am
-
22q11.2CNV Prevalence Studies in Preparation for General Population Newborn Screening

Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD

Heather Hain, PhD, The Children’s Hospital of Philadelphia

10:35 am
-
Questions

Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD

10:40 am
-
Coffee Break

11:00 am
-
Williams Syndrome: New Insights into Perioperative Management

Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD

Andrew J. Matisoff, MD, Children’s National Health System

11:20 am
-
Cardiac Manifestations of the 22q11.2 Deletion Syndrome and the Impact of Deletion Status on Clinical Cardiac Outcomes

Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD

Elizabeth Goldmuntz, MD, FAAP, FACC, University of Pennsylvania Perelman School of Medicine

11:40 am
-
Cardiac Features of 7q11.23 Duplication Syndrome

Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD

Stephanie Ware, MD, PhD, Indiana University School of Medicine

12:00 pm
-
Genetic Modifiers of Outcomes after Surgery for Congenital Heart Defects

Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD

J. William Gaynor, MD, University of Pennsylvania Perelman School of Medicine

12:20 pm
-
Lunch/Poster Session

1:10 pm
-
Awards

Williams Syndrome Association, Terry Monkaba

The International 22q.11 Foundation, Inc., Donna McDonald-McGinn

Organizers Awards, Beth Kozel and Karen Berman

1:20 pm
-
Resolving Genetic Influences on Brain Organization in Copy Number Variation Disorders: Core Challenges and New Opportunities

Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD

Armin Raznahan, MD, PhD, National Institute of Mental Health

1:35 pm
-
Brain Phenotypes in the 7q11.23 Hemizygous Deletion of Williams Syndrome and the 7q11.23 Duplication Syndrome: From Genes to Neural Circuits to Behavior and Back Again

Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD

Karen F. Berman, MD, National Institute of Mental Health

2:05 pm
-
Developmental Trajectories of Brain and Behavior in 22q11.2 Deletion Syndrome

Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD

Raquel Gur, MD, PhD, University of Pennsylvania Perelman School of Medicine

2:35 pm
-
Effects of Reciprocal 22q11.2 Copy Number Variation on Brain and Behavior

Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD

Carrie E. Bearden, PhD, University of California, Los Angeles

3:05 pm
-
Wiring Williams Syndrome and 7q11.23 Duplication Syndrome Brains: Multimodal and Developmental Insights from The NIMH Longitudinal Study of Children with 7q11.23 CNVs

Data Blitz 4: Neuroimaging and Development
Moderator: Jennifer Blackford, PhD

Michael Gregory, MD, National Institute of Mental Health

3:15 pm
-
Gtf2i and Gtf2ird1 Combined Effects on Behavior and Transcription

Data Blitz 4: Neuroimaging and Development
Moderator: Jennifer Blackford, PhD

Nathan Kopp, BS, Washington University School of Medicine

3:25 pm
-
Questions

Data Blitz 4: Neuroimaging and Development
Moderator: Jennifer Blackford, PhD

3:30 pm
-
Coffee Break

3:50 pm
-
Introduction

Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD

William Gahl, MD, National Human Genome Research Institute

3:55 pm
-
Polyclonal Aortic Smooth Muscle in Development and Disease: Integrin Beta3 as a Target in Elastin Aortopathy

Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD

Daniel Greif, MD, Yale University School of Medicine

4:25 pm
-
Minoxidil Remodels Blood Vessels, Treats Hypertension and Improves Brain Perfusion in a Mouse Model of Elastin Insufficiency

Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD

Michael Shoykhet, MD, PhD, Children’s National Medical Center

4:55 pm
-
To Rebalance Tbx1 Gene Haploinsufficiency: Challenges and Successes

Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD

Antonio Baldini, PhD, University Federico II

5:25 pm
-
Conclusion

Karen F. Berman, MD
National Institute of Mental Health

Beth Kozel, MD, PhD
National Heart, Lung, and Blood Institute