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


Neurological insights into UBE3A function and action
Matt Judson PhD
Ben Philpot, 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)