RESEARCH SYMPOSIUM

Topics to include:

 

Cell Biology of UBE3A - Nuclear functions, isoform roles, protein interactions, regulation of expression
Ype Elgersma, PhD, Erasmus Medical Center, Rotterdam

Stormy Chamberlain, PhD Neurogenomics at Roche

Omics Approaches - Transcriptomics, proteomics, metabolomics . . .
Nikhil Pandya, PhD, Genentech

Singe Cell Insights into Syndromic Forms of Autism
Jonatan Perez, PhD, University of California, San Francisco

Protein Structure and Function - Variant effects, protein interctions, modifiers
Giles Trave, PhD, European Center of Research and Biology, Illkirch, France


Tolerance and intolerance of UBE3A gene overdosage during neurodevelopment: lessons from mouse models and therapeutic implications
Matt Judson PhD, UNC Chapel Hill

Contributions of UBE3A and other non-imprinted genes to Angelman syndrome pathophysiology
Eric Levine, PhD, University of Connecticut School of Medicine

Quantitative Analysis of Overnight Home EEG in a Natural History Study of Patients with Angelman Syndrome

Ayan Ghoshal, Biogen

Rob Komorowski, Ionis Pharmaceuticals

Molecular interactions and physiological roles of the AS-associated Ubiquitin E3 ligase E6AP/UBE3A

Gwen Buel, PhD, National Cancer Institute (NIH)