Angelman and Dup15q Syndromes:  Shared Pathways to Discovery

August 6-7, 2018  *  Chapel Hill, NC 

The 2018 ASF/Dup15q Research Symposium features two full days of world-class scientific, translational and clinical presentations. The symposium allows for the sharing of unpublished work, which leads to conceptual discussions with an outstanding community of researchers and clinicians, helping accelerate therapeutic opportunities for both disorders.

See highlights of the 2018 symposium shared by attendees.

Thank You Event Sponsors

Ovid Therapeutics - Bold Medicine
Platinum Sponsor
Roche logo
Gold Sponsor

More details to be added

Monday, August 6

Speaker / Topic

7:00 am


8:00 am


8:15 am

Laura Mamounas, PhD
National Institute of Health

NINDS perspectives on translational and clinical research for neurodevelopmental disorders: new directions and opportunities

9:00 am

Audrey Thurm, PhD
National Institute of Mental Health

Measuing Meaningful Change in Invisiduals with Intellectual Disability

9:45 am

Charlotte DiStefano, PhD
University of California Los Angeles

Developmental and Behavioral Characteristics of Children with Dup15q Syndrome: Updates from a Large Cohort Study

10:30 am


11:00 am

Gail Mandel, PhD
Oregon Health and Science University

How close are we to repairing epigenetic neurological diseases: Lessons from Rett Syndrome

11:45 am

Gene Yeo

Targeting and elimination of RNA in RNA disorders

12:30 pm


1:30 pm

Yong-Hui Jiang, MD, PhD
Duke Institute for Brain Sciences

Development of Novel Therapy for Angelman syndrome

2:15 pm

Seth Margolis, PhD
Johns Hopkins Medicine

Deleting a UBE3A substrate rescues impaired hippocampal function and learning in Angelman syndrome mice

3:00 pm


3:45 pm

Chris Keary, MD
MassGeneral Hospital for Children

Anxiety in Angelman syndrome

4:30 pm

Ron Thibert, DO, MsPH
MassGeneral Hospital for Children

Seizures in Angelman and 15q Duplication Syndromes

5:15 pm


5:30 pm


Tuesday, August 7

Speaker / Topic

7:00 am


8:00 am

Anne Wheeler, PhD
RTI International

Report from the ground: Clinical needs of individuals with Angelman syndrome

8:20 am

Kimberly Parkin
AS Clinic, Massachusetts General – Clinical Research Coordinator/Manager

Myoclonus in Angelman Syndrome

8:40 am

Shafali Jeste

Dup15 Clinical Update

9:00 am


9:30 am

Bin Gu, PhD
UNC Chapel Hill

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice

9:50 am

Gustavo Martinez-Noel, PhD
Harvard Medical School

UBE3A interaction with the proteasome and PSMD4 is affected in two Angelman mutants

10:10 am

Larry Reiter, PhD

A screen to identify approved drugs that suppress seizures in Dup15q syndrome

10:30 am

Kiyoshi Egawa, MD, PhD
Department of Pediatrics, Hokkaido University Graduate School of Medicine

Pathophysiological impact of diverse dysregulation of tonic inhibition in Angelman syndrome

10:50 am


11:05 am

Marine Murphee, MS, LCGC
Mayo Clinic Rochester MN

Mosaic Angelman syndrome

11:25 am

Laura Hiruma, PhD
UNC Carolina Institute for Developmental Disabilities

Sleep Patterns Among Individuals with Angelman Syndrome: Prevalence of Sleep Difficulties and Clinical Correlates

11:45 am

Casey Okoniewski, PhD
UNC Carolina Institute for Developmental Disabilities

Examining the Needs of Parents of Children with Angelman Syndrome

12:05 pm


1:15 pm

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

1:35 pm

James Fink, Ph.D.
University of Connecticut Health Center

Hyperexcitability in stem cell-derived neurons from patients with chromosome 15q-associated neurodevelopmental disorders

1:55 pm

Carl Johnson, PhD
Vanderbilt University

Circadian and Sleep Phenotypes in Angelman-model Rodents

2:15 pm


2:45 pm

Michael Sidorov, PhD
University of North Carolina

Modeling prefrontal dysfunction in Angelman mice

3:05 pm

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

3:25 pm

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

3:45 pm


4:00 pm

Eric Morrow, MD PhD
Brown University

Shared Clinical and Cellular Features of Christianson Syndrome and Angelman Syndrome

4:20 pm

Simon Lopez, PhD
UC Davis

Gain or loss of UBE3A affects large networks of neuronal and imprinted genes

4:40 pm

Stormy Chamberlain, Ph.D. | Ben Philpot, Ph.D. | Shefali Jeste, M.D.

Wrap Up Session


The Symposium was held at:

The Carolina Inn
Chapel Hill, NC