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
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
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