top of page

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

bottom of page