RESEARCH SYMPOSIUM AGENDA
Monday, August 1, 2022
Kilimanjaro Suite 3&4
Session 1: Natural History
Moderator Liz Jalazo
12:30PM CST
Welcoming remarks
Liz Jalazo, MD
Remotely Monitoring the Early Development of Children with Angelman Syndrome
Bridgette Kelleher, PhD
Purdue University
12:45PM CST
A Prospective, Longitudinal, Observational Clinical Trial in Individuals with Angelman syndrome to Enable Endpoint Development for Interventional Trials (FREESIAS)
Jorrit Tjeertes
1:15PM CST
Longitudinal case series of development and behavior among children with Dup15q Syndrome
Maya Ayoub
1:30PM CST
Hyperphagia in Angelman Syndrome and Other Neurogenetic Syndromes: Early Childhood Profiles
Sara Andrews
1:45PM 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
2:00PM CST
Angelman syndrome: Lessons from over 450 children and adults
Katherine Anderson
Boston Children’s Hospital
2:15PM CST
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
Development of clinician-reported and caregiver-reported global impression scales for Dup15q Syndrome
Mia Tichy
3:45PM 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
4:00PM CST
Quality of Life for Families with Angelman syndrome
Sarah Potter
RTI International
4:15PM CST
Reactivating paternal Ube3a alleviates the disturbance of brain rhythms and sleep in juvenile and adult Angelman syndrome mouse models
Wu Chen
4:30PM EST
4:45PM CST
Discussion and Break
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
Roche
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
Scott Stromatt
GeneTX Therapeutics
5:45PM CST
PTC Therapeutics-Gene Therapy for Angelman Syndrome: A Preclinical Update of PTC-AS
Ed Weeber
PTC Therapeutics
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
6:15PM CST
Omics Approaches – Transcriptomics, proteomics, metabolomics
Nikhil Pandya, PhD
Genentech
6:45PM EST
7:00PM CST
Reception
Tuesday, August 2, 2022
Kilimanjaro Suite 3&4
Session 4: UBE3A Day
Moderator: Becky Burdine
8:30AM CST
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
Tolerance and intolerance of UBE3A gene overdosage during neurodevelopment: lessons from mouse models and therapeutic implications
Matt Judson PhD
UNC Chapel Hill
9:15AM CST
Contributions of UBE3A and other non-imprinted genes to Angelman syndrome and Dup15q pathophysiology
Eric Levine, PhD
University of Connecticut School of Medicine
9:45AM CST
10:15AM CST
Break
The Effect of UBE3A on the Function of the Proteasome
Mattijs Punt
10:30AM CST
Molecular interactions and physiological roles of the AS-associated Ubiquitin E3 ligase E6AP/UBE3A
Jonatan Perez, PhD
University of California, San Francisco
11:00AM EST
11:30AM CST
Single cell insights into Syndromic Forms of Autism
Jonatan Perez, PhD
University of California, San Francisco
12:00PM CST
Protein Structure and Function - Variant effects, protein interactions, modifiers
Giles Trave, PhD
European Center of Research and Biology, Illkirch, France
Discussion and Conclude
Wrap up
12:30PM CST