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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.
For questions related to the meeting, please contact:
Karen F. Berman, MD, National Institute of Mental Health
The Study of Rare Disease
Moderator: Karen F. Berman, MD
Eric D. Green, MD, PhD, National Human Genome Research Institute
The Study of Rare Disease
Moderator: Karen F. Berman, MD
Thomas Lehner, PhD, MPH, National Institutes of Mental Health
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
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
Clinical Forum 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD
Carolyn B. Mervis, PhD, University of Louisville
Clinical Forum 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD
Jacob Vorstman, PhD, The Hospital for Sick Children
Clinical Forum 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD
Anne Bassett, MD, FRCPC, University of Toronto
Data Blitz 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD
Daniel McGinn, BS, The Children’s Hospital of Philadelphia
Data Blitz 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD
Elaine H. Zackai, MD, The Children’s Hospital of Philadelphia
Data Blitz 1 (Neurodevelopment)
Moderator: Audrey Thurm, PhD
Model Systems 1 (7q11.23)
Moderator: Zsolt Urban, PhD
Lucy R. Osborne, PhD, University of Toronto
Model Systems 1 (7q11.23)
Moderator: Zsolt Urban, PhD
Elaine A. Ostrander, PhD, National Human Genome Research Institute
Model Systems 1 (7q11.23)
Moderator: Zsolt Urban, PhD
Robert Mecham, PhD, Washington University School of Medicine at St. Louis
Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD
Zsolt Urban, PhD, University of Pittsburgh
Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD
Andrew Tebbenkamp, PhD, Yale University School of Medicine
Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD
Yehuda Ben-Shahar, PhD, Washington University
Data Blitz 2: Animal Models
Moderator: J. Shane Kippenhan, PhD
Model Systems 2 (22q11.2)
Moderator: Silvia Racedo, PhD
Joshua Gordon, MD, PhD, National Institute of Mental Health
Model Systems 2 (22q11.2)
Moderator: Silvia Racedo, PhD
Anthony LaMantia, PhD, The George Washington School of Medicine and Health Sciences
Model Systems 2 (22q11.2)
Moderator: Silvia Racedo, PhD
Caroline E. Burns, PhD, Massachusetts General Hospital/Harvard Medical School
Translation 1: Small Molecule Screening for Rare Disease
Moderator: Beth Kozel, MD, PhD
Christopher P. Austin, MD, National Center for Advancing Translational Sciences
Karen F. Berman, MD
National Institute of Mental Health
Beth Kozel, MD, PhD
National Heart, Lung, and Blood Institute
Beth Kozel, MD, PhD, National Heart, Lung, and Blood Institute
Cardiac Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Manfred Boehm, MD
Bernice E. Morrow, PhD, Albert Einstein College of Medicine
Cardiac Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Manfred Boehm, MD
Bruno Marino, MD, Sapienza University of Rome
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
Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD
R. Thomas Collins, MD, Stanford University
Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD
Phoebe Parrish, BS, National Heart, Lung, and Blood Institute
Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD
Heather Hain, PhD, The Children’s Hospital of Philadelphia
Data Blitz 3: Cardiology and Genetics
Moderator: Robert Hufnagel, MD, PhD
Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD
Andrew J. Matisoff, MD, Children’s National Health System
Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD
Elizabeth Goldmuntz, MD, FAAP, FACC, University of Pennsylvania Perelman School of Medicine
Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD
Stephanie Ware, MD, PhD, Indiana University School of Medicine
Clinical Forum 2 (Cardiovascular Disease and Anesthesia)
Moderator: R. Thomas Collins, MD
J. William Gaynor, MD, University of Pennsylvania Perelman School of Medicine
Williams Syndrome Association, Terry Monkaba
The International 22q.11 Foundation, Inc., Donna McDonald-McGinn
Organizers Awards, Beth Kozel and Karen Berman
Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD
Armin Raznahan, MD, PhD, National Institute of Mental Health
Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD
Karen F. Berman, MD, National Institute of Mental Health
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
Neuroimaging Findings in 7q11.23 and 22q11.2 Copy Number Variations
Moderator: Jennifer Blackford, PhD
Carrie E. Bearden, PhD, University of California, Los Angeles
Data Blitz 4: Neuroimaging and Development
Moderator: Jennifer Blackford, PhD
Michael Gregory, MD, National Institute of Mental Health
Data Blitz 4: Neuroimaging and Development
Moderator: Jennifer Blackford, PhD
Nathan Kopp, BS, Washington University School of Medicine
Data Blitz 4: Neuroimaging and Development
Moderator: Jennifer Blackford, PhD
Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD
William Gahl, MD, National Human Genome Research Institute
Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD
Daniel Greif, MD, Yale University School of Medicine
Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD
Michael Shoykhet, MD, PhD, Children’s National Medical Center
Translation 2: Treatment Strategies for WS and 22q11.2 Deletion
Moderator: William Gahl, MD
Antonio Baldini, PhD, University Federico II
Karen F. Berman, MD
National Institute of Mental Health
Beth Kozel, MD, PhD
National Heart, Lung, and Blood Institute