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brilliant minds in  Dup15q and Angelman syndromes collaborated for two days in Chapel Hill, North Carolina, sharing unpublished data and knowledge.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.

 

Charlotte DiStefano, PhD
University of California Los Angeles

View interview here

 

Audrey Thurm, PhD
National Institute of Mental Health       

Measuring Meaningful Change in Individuals with Intellectual Disability

View interview here

 

Gene Yeo, Professor at University of California, San Diego

Targeting and elimination of RNA in RNA disorders

View interview here

 

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