RESEARCH SYMPOSIUM AGENDA
Monday, August 1, 2022
Kilimanjaro Suite 3&4
Session 1: Natural History
Moderator Liz Jalazo
Virtual Session links were sent via email. If you have not received information on
how to join the virtual sessions please reach out to angelman@sswmeetings.com
7:00AM - 5:00PM CST
Research Symposium Registration Desk Open
Prefunction 7AB
12:00PM CST
Lunch
12:30PM CST
Welcoming remarks
Liz Jalazo, MD
12:45PM CST
Remotely Monitoring the Early Development of Children with Angelman Syndrome
Bridgette Kelleher, PhD
Purdue University
1:15PM CST
A Prospective, Longitudinal, Observational Clinical Trial in Individuals with Angelman syndrome to Enable Endpoint Development for Interventional Trials (FREESIAS)
Jorrit Tjeertes
1:30PM CST
Longitudinal case series of development and behavior among children with Dup15q Syndrome
Maya Ayoub, MD, EdM
1:45PM CST
Hyperphagia in Angelman Syndrome and Other Neurogenetic Syndromes: Early Childhood Profiles
Sara Andrews and Anita Panjwani
2:00PM CST
Oscillatory EEG activity in the beta-frequency range indexing excess GABA-A receptor function in Dup15q syndrome correlates with symptom severity
Jorge Hipp
Roche
2:15PM CST
Angelman syndrome: Lessons from over 450 children and adults
Katherine Anderson
Boston Children’s Hospital
2:30PM CST
Parents and Infants Inter(X)action Intervention for Angelman Syndrome
Samantha Scott
RTI International
2:45PM CST
Discussion and Break
Kilimanjaro Suite 3&4
Session 2: Biomarkers and Outcome Measure Development
Moderator Becky Burdine
3:15PM CST
Quantitative Analysis of Overnight Home EEG in a Natural History Study of Patients with Angelman Syndrome
Ayan Ghoshal
Biogen
Rob Komorowski
Ionis Pharmaceuticals
3:45PM CST
Development of clinician-reported and caregiver-reported global impression scales for Dup15q Syndrome
Eugenie Suter
4:00PM CST
MyA: A Multi-Biometric Sensor Vest for People Living with Angelman Syndrome
Orlando Hoilett
Identifying priorities, challenges, and key gaps of wearable biosensor technology for people with Angelman Syndrome
Carolyn McCormick
4:15PM CST
Quality of Life for Families with Angelman syndrome
Sarah Potter
RTI International
4:30PM CST
Reactivating paternal Ube3a alleviates the disturbance of brain rhythms and sleep in juvenile and adult Angelman syndrome mouse models
Wu Chen
Baylor College of Medicine
4:45PM CST
Tools for assessing preclinical and clinical improvement in Angelman syndrome
Mike Sidorov
Children's National
Kilimanjaro Suite 3&4
Session 3: Intervention/Therapeutic Development
Moderator Becky Burdine
5:30PM CST
Angelman syndrome’s patient neuron screen identifies a potent and selective clinical ASO targeting UBE3A-ATS with long lasting efficacy in cynomolgus monkey
Thomas Kremer, PhD
Roche
5:45PM CST
A Phase 1/2 Open-label, Multiple-dose, Dose-escalation Clinical Trial of the Safety and Tolerability of GTX-102 in Pediatric Patients with Angelman Syndrome
Camille Bedrosian
Ultragenyx
Elizabeth Berry-Kravis
Rush
6:00PM CST
Development of an antisense oligonucleotide therapeutic targeting UBE3A for Dup15q syndrome using Q-State's BRITE system
James Fink, PhD
QState Biosciences
6:30PM CST
Omics Approaches – Transcriptomics, proteomics, metabolomics
Nikhil Pandya, PhD
Genentech
7:00PM CST
Welcome Reception - Event Barn
Tuesday, August 2, 2022
Kilimanjaro Suite 3&4
Session 4: UBE3A Day
Moderator: Becky Burdine
7:00AM - 5:00PM CST
Research Symposium Registration Desk Open
Prefunction 7AB
8:30AM CST
Understanding the role of UBE3A through (novel) AS mouse models
Ype Elgersma, PhD
Erasmus Medical Center, Rotterdam
Cell Biology of UBE3A - Nuclear functions, isoform roles, protein interactions, regulation of expression
Stormy Chamberlain, PhD
Neurogenomics at Roche
9:15AM CST
Tolerance and intolerance of UBE3A gene overdosage during neurodevelopment: lessons from mouse models and therapeutic implications
Matt Judson PhD
UNC Chapel Hill
9:45AM CST
Contributions of UBE3A and other non-imprinted genes to Angelman syndrome and Dup15q pathophysiology
Eric Levine, PhD
University of Connecticut School of Medicine
10:15AM CST
Break
10:30AM CST
The Effect of UBE3A on the Function of the Proteasome
Mattijs Punt
10:45AM CST
Molecular interactions and physiological roles of the AS-associated Ubiquitin E3 ligase E6AP/UBE3A
Gwen Buel, PhD
National Cancer Institute (NIH)
11:15AM CST
Single cell insights into Syndromic Forms of Autism
Jonatan Perez, PhD
University of California, San Francisco
11:45AM CST
Protein Structure and Function - Variant effects, protein interactions, modifiers
Giles Trave, PhD
European Center of Research and Biology, Illkirch, France
12:30PM CST
Lunch
Discussion and Wrap up