2012 Scientific Meeting

The 2012 Dup15q Scientific Meeting was held on August 9-10, 2012 at Boston Children's Hospital. The two-day conference was attended by more than sixty scientists, researchers and professionals interested in chromosome 15q duplication syndrome. It was sponsored in part by:


Below are the speakers and presentation titles, as well as links to the video of each, if they are available.

Introduction and Familial Reports

Brenda Finucane

Genetics I: Molecular Genetics 

N. Carolyn Schanen - Introduction to 15q duplications

Stormy Chamberlain -  Human induced pluripotent stem cell models of 15q duplication syndrome 

Janine LaSalleDup15q brain expression, methylation, and environmental analyses


Ian King - Unsilencing of paternal Ube3a by topoisomerase inhibitors
Caleigh Mandel-Brehm - Genetic rescue of behavioral deficits in a mouse model of Angelman Syndrome

Genetics II: Animal Models and Translational Research

Randall Carpenter- Scientific Discoveries Allow Development of Targeted Therapeutics for Individuals with Autism Spectrum Disorders


Matt Anderson - Idic(15): Where in the cell is that drug target?

Robert Nicholls - New animal models to study human 15q11-q13 syndromes

Scott Dindot - Genomic Imprinting of Ube3a in the Brain

Lawrence Reiter - From flies to bedside: identification of UBE3A targets that may influence the phenotypes in maternal duplications and deletions of 15q


Kadi Luchsinger - Registry Update


Clinical Insights I: Autism, language, learning, and behavior

Jerzy Weigel - Clinicopathological stratification of diopathic autism and autism associated with duplications 15q11.2-q13   

Lawrence Reiter - Characterization of the interstitial duplication 15q syndrome 


Andrew Papanicolaou - Detection of Autism through resting and task-related neuronal networks


Chris McDougle Psychopharmacology of Autism Spectrum Disorders



Clinical Insights II: Epilepsy, sleep and SUDEP

Ron Thibert - Clinical data from the first year of the Dup15q Center and brief seizure study update
Kiran MaskiHeart reponse to arousals from sleep in 15dup children and potential contribution to sudden death
Daniel Friedman -Identifying risk factors for SUDEP in patients with Dup15q
Ed Cook