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