Highlights From The ASF/Dup15q Science Symposium
The most brilliant minds in Dup15q and Angelman syndromes collaborated for two days in Chapel Hill, North Carolina, sharing unpublished data and knowledge. Our own Board of Directors, Julia Jordanich took a moment to sit down with some of the presenters.
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Charlotte DiStefano, PhD
University of California Los Angeles
Audrey Thurm, PhD
National Institute of Mental Health
Measuring Meaningful Change in Individuals with Intellectual Disability
Gene Yeo, Professor at University of California, San Diego
Targeting and elimination of RNA in RNA disorders
Please see the “Shared Pathways to Discovery” website for the complete schedule.
National Institute of Health
NINDS perspectives on translational and clinical research for neurodevelopmental disorders: new directions and opportunities
Chris Keary, MD
MassGeneral Hospital for Children
Anxiety in Angelman syndrome
Ron Thibert, DO, MsPH
MassGeneral Hospital for Children
Seizures in Angelman and 15q Duplication Syndromes
Anne Wheeler, PhD
RTI International
Report from the ground: Clinical needs of individuals with Angelman syndrome
Kimberly Parkin
AS Clinic, Massachusetts General – Clinical Research Coordinator/Manager
Myoclonus in Angelman Syndrome
Shafali Jeste
Dup15 Clinical Update
Bin Gu, PhD
UNC Chapel Hill
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice
Larry Reiter, PhD
UTHSC
A screen to identify approved drugs that suppress seizures in Dup15q syndrome
Laura Hiruma, PhD
UNC Carolina Institute for Developmental Disabilities
Sleep Patterns Among Individuals with Angelman Syndrome: Prevalence of Sleep Difficulties and Clinical Correlates
Casey Okoniewski, PhD
UNC Carolina Institute for Developmental Disabilities
Examining the Needs of Parents of Children with Angelman Syndrome
Kevin Hope, B.A.
University of Tennessee Health Science Center
Transcriptomic and proteomic profiling of a Dup15q epilepsy fly model reveals cell non-autonomous downregulation of synaptic proteins
Eric Levine, Ph.D.
University of Connecticut Health Center
Hyperexcitability in stem cell-derived neurons from patients with chromosome 15q-associated neurodevelopmental disorders
Carl Johnson, PhD
Vanderbilt University
Circadian and Sleep Phenotypes in Angelman-model Rodents
Mark Shen, PhD
University of North Carolina School of Medicine
Integrating neuroimaging, clinical assessment, and microarray data to validate white matter as a biomarker in children with Angelman syndrome
Judy Bloom, BS, Biology
University of Connecticut School of Medicine
Altered Neuron Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons from Angelman Syndrome and Chromosome 15q Duplication Syndrome Patients