2014 Symposium


      

 

 

The Angelman Syndrome Foundation (ASF) and the Dup15q Alliance (DA), cohosted a joint scientific symposium, “Two Sides of a Coin: Deletions and Duplications on 15q”, on August 14-16 in Cambridge, MA.
 
As with past ASF and DA meetings, the conference brought together scientists and clinicians studying all aspects of these syndromes. Given the close molecular relationship between Angelman syndrome and Dup15q syndrome, an additional goal of the symposium was to feature research and foster discussion that may lead to mutually productive collaboration between professionals whose focus was hitherto restricted to one syndrome or the other. As always it is hoped that the discussions will advance understanding and treatment development for these syndromes, and for autism spectrum disorders in general.   

(The next ASF Scientific Symposium will be held July 2015 in Chicago.)


Schedule of Events 

Thursday, August 14 

7:00 am -
6:00pm
REGISTRATION Charles View Foyer
8:00 am BREAKFAST
Provided by ASF & Dup15q
Charles View Foyer
9:00 am

Eileen Braun, Guy Calvert,
Brenda Finucane, Kadi Luchsinger

Opening Remarks
Charles View Ballroom
9:10 am

Dr. Chris Austin
NIH Clinical Studies

Charles View Ballroom
9:40 am

Dr. Richard Mooney  
Birdsong:  A System for Analyzing How Learning-Related Genes Affect Neural Circuits and Behavior

Charles View Ballroom
10:20 am BREAK (20 minutes) Charles View Foyer
10:40 am Dr. Scott Dindot
Making Sense and Antisense of Ube3a in the Brain
Charles View Ballroom
11:20 am

Dr. Jill Silverman
Therapeutic Development in Mouse Models of Neurodevelopmental Disorders

Charles View Ballroom
Noon  LUNCH (1 hour) 
Provided by ASF & Dup15q
Empress Room
1:00 pm

Dr. Ugo Mayor
Using Animal Models to Elucidate the Molecular Mechanisms Regulated by UBE3A and Ubiquitin

Charles View Ballroom
1:40 pm

Dr. Ype Elgersma
Understanding the Molecular Mechanisms Underlying Angelman Syndrome

Charles View Ballroom
2:20 pm BREAK (20 minutes) Charles View Foyer
2:40 pm

Dr. Shafali Spurling Jeste
Autism and Related Neurodevelopmental Disorders in Dup15q Syndrome: Can Clinical Profiles Guide Treatment Targets?

Charles View Ballroom
3:20 pm

Dr. Connie Kasari
Engaging Children to Improve Social-Communication Skills: Developmental Implications for Dup15q

Charles View Ballroom
4:00 pm BREAK (20 minutes) Charles View Foyer
4:20 pm

Dr. Stephen Moss
Examining the Role that Modifications in the Phosphorylation of the GABAAR Beta3 Subunit Play in the Pathophysiology of Autism Spectrum Disorders

Charles View Ballroom
5:00 pm

Dr. Ron Thibert
Epilepsy in Angelman Syndrome and 15q Duplication Syndrome

Charles View Ballroom
5:40 pm End sessions  
6:00 -
8:00 pm
RECEPTION Empress Room

 

Friday, August 15 

7:00 am -
5:00 pm
REGISTRATION Charles View Foyer
8:00 am BREAKFAST
Provided by ASF & Dup15q
Charles View Foyer
9:00 am

Dr. Orrin Devinsky
Efficacy and Safety of Epidiolex (Cannabidiol) in Children and Young Adults with Treatment-Resistant Epilepsy: Preliminary Data from an Expanded Access Program

Charles View Ballroom
9:40 am

Dr. Lawrence Reiter
Significant Transcriptional Changes in 15q Duplication but not Angelman Syndrome Deletion Dental Pulp Stem Cell Derived Neurons

Charles View Ballroom
10:20 am BREAK (20 mins) Charles View Foyer
10:40 am

Dr. Stormy Chamberlain
Induced Pluripotent Stem Cell Models of Angelman and Dup15q Syndromes

Charles View Ballroom
11:20 am

Dr. Eric Levine
Pathophysiology of Autism Spectrum Disorders Using Human Stem Cell Models

Charles View Ballroom
Noon LUNCH (1 hour)
Provided by ASF & Dup15q
Empress Room
1:00 pm

Dr. Seth Margolis
Mechanisms of Angelman Syndrome: Insights from UBE3A Substrates

Charles View Ballroom
1:40 pm

Dr. Janine LaSalle
Methylome and Synaptic Gene Impacts of an Organic Pollutant in Dup15q Syndrome 

Charles View Ballroom
2:20 pm BREAK (20 minutes) Charles View Foyer
2:40 pm

Dr. Edwin Cook
15q11.2 BP1-BP2 Copy Number Variation

Charles View Ballroom
3:10 -
4:40 pm

Schedule for Dup15q Alliance

Charles View Ballroom

 

3:10 - Dr. T. Grant Belgard
Congruent Changes in Cortical Gene Expression in Duplication 15q Syndrome and Idiopathic Autism

3:40 - Olena Marchenko
Dendritic Spine Morphologenesis in Neurons derived from Neurotypical and Dup15q iPSCs

4:10 - Matthew Lollar
Investigating the Neuronal Circuitry Underlying Behaviors Associated with Autism Spectrum Disorders Using Targeted Gene Expression of UBE3A in Drosophila

3:10 -
4:40 pm

Schedule for Angleman Syndrome Foundation

William Dawes Room

 

3:10 - Kylee Miller
Investigating Anxiety in Individuals with Angelman Syndrome

3:40 - Dr. Ron Thibert/Kylee Miller
Angelman Syndrome Clinics: Updates from the Ground and Next Steps

3:55 - Jennifer Willen
Molecular Subtypes and Neurodevelopmental Status Influence Behavioral Phenotype in Angelman Syndrome

4:20 - Sarah Pollack
Myoclonus in Angelman Syndrome

4:40 pm BREAK (20 minutes) Charles View Foyer

5:00 pm

 

Joint Panel Discussion

Moderator: Dr. Lawrence Reiter

Panelists: 

Dr. Wen-Hann Tan
Dr. Ron Thibert
Dr. Ben Philpot
Dr. Stormy Chamberlain
Dr. Ed Cook
Dr. Shafali Jeste

Charles View Ballroom
6:00 pm End sessions for Day 2  
 

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