Research
Symposium Agenda
July 22 - 23
Subscribe to ASF on YouTube
for a collection of recorded sessions post-event.
Time
Title
Location
Presenter
-
Symposium Registration Desk Open
-
Registration Booth A
Registration Booth A
-
Breakfast On Your Own
-
Various
Various
-
LADDER Learning Network Meeting
-
Kilimanjaro 1
Kilimanjaro 1
Hosted by
Angelman Syndrome Foundation & Dup15q Alliance
-
Break
-
Various
Various
SESSION #1: Genomics of Angelman Syndrome/Duplication 15q Syndrome
-
Lunch & Opening Remarks
-
Kilimanjaro 1
Kilimanjaro 1
-
NIH Address by Walter Koroshetz, M.D., Director of NINDS
-
Kilimanjaro 1
Kilimanjaro 1
-
The Role of UBE3A and the Additional 15q11-13 Genes in Angelman Syndrome and Duplication 15q Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Contributions of Non-Imprinted Genes to Angelman Syndrome and Duplication 15q Syndrome Pathophysiology
-
Kilimanjaro 1
Kilimanjaro 1
-
UBE3A Mouse Models
-
Kilimanjaro 1
Kilimanjaro 1
-
Integration of CTCF loops, Methylome and amd Transcriptome in Differentiating LUHMES
-
Kilimanjaro 1
Kilimanjaro 1
-
Empowering research through genetic disorder online portals
-
Kilimanjaro 1
Kilimanjaro 1
SESSION #2: Clinical Assessments
-
Climbing the LADDER to treatment: The impact of data sharing.
-
Kilimanjaro 1
Kilimanjaro 1
-
Early Findings from the First Deep Phenotyping Study of Infants with Angelman Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
The Relationship Between Cortical Visual Impairment (CVI) and Communication: Preliminary Data from Two Studies
-
Kilimanjaro 1
Kilimanjaro 1
-
BREAK
-
Various
Various
SESSION #3: Therapeutic Approaches
-
Angelman Syndrome Therapeutics
-
Kilimanjaro 1
Kilimanjaro 1
-
Investigating UBE3A/HERC2 synergy as a driver of Dup15q syndrome pathogenesis
-
Kilimanjaro 1
Kilimanjaro 1
-
shRNA-Mediated Gene Therapy for the Treatment of Angelman Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Multi-Target AAV-Cas9 Vectors for Angelman syndrome Efficiently Disrupt Ube3a-ATS
-
Kilimanjaro 1
Kilimanjaro 1
-
A Vectorized miRNA-based Approach to Unsilence UBE3A in Angelman Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Defining UBE3A Pathways in Neuronal Development
-
Kilimanjaro 1
Kilimanjaro 1
-
Final Questions & Wrap Up
-
Kilimanjaro 1
Kilimanjaro 1
-
BREAK
-
Various
Various
-
Poster Session/ Scientific Reception
GAYATHRI BALASURIYA, Research Fellow, PhD
RMIT University
Using Prebiotics as a Non-Invasive Treatment Option for Gut Dysfunction in Autism
MONICA CIAFFI, B.S.
Boston Children’s Hospltal
Twins with Angelman Syndrome: Exploring Their Similarities & Differences
CARINA CRISAN, Undergraduate Student
Purdue University
Differences in Gut Microbial Patterns between Individuals with Angelman Syndrome and their First-Degree Relatives
BRIGIT ROEST CROLLIUS, ANP
Erasmus MC
Parental Experiences Regarding Transition from Child to Adult Healthcare in Patients with Angelman Syndrome
GLORIA DIETZ, B.S.
Purdue University
Characterizing the Natural History of Angelman Syndrome in Early Childhood: Initial Results from Phase I and Il of the Purdue Early Phenotype Study (2016-2024)
KIMBERLY GALVEZ-ORTEGA, M.S.
Purdue University
The development of a Remote, Home-Based EEG Protocol for English-and Spanish-Speaking Families Affected by Angelman Syndrome
ROSLYN HAROLD, Doctoral Candidate
Purdue University
Perdue University Reliability and Internal Consistency of a Telehealth Protocol for EEG Assessment in Families Affected by Angelman Syndrome.
GALI HEIMER, M.D., Ph.D
Tel-Aviv University
Distinct Growth Characteristics in Angelman Syndrome
SYDNEY JACOBS, B.S.
Children’s Hospital Los Angeles
Visual Disorders and Visual Attention in Children with Dup15q and Angelman Syndrome: VISiON-15q Study
BRIDGETTE KELLEHER, PhD
Purdue University
Project Well-CAST: How the Angelman Community Helped Launch a Virtual Treatment Network for Supporting Rare Disorder Caregivers
SARAH POTTER, PhD, CCC-SLP
RTI International
Adapting the Parents and Infants Inter(X)action Intervention (PIXI) for Angelman Syndrome
SHADY SEDHOM, Global Patient Partnership Leader, pRED – NDD
Roche
Results from the Prematurely Terminated Phase 2 Trial of Basmisanil in Children with Dup15q Syndrome (Quindecim study)
AVIA SUTTON, Genetic Counselor
University of North Carolina at Greensboro
Black Caregiver Perspectives on the Representation of Black, Indigenous & People of Color (BIPOC) in the Angelman Syndrome Community
XIN YANG, PHD
Brown University
UBEA Controls Oligodendrocyte Function via Estrogen Receptor
Signaling
-
Merakesh Market
Merakesh Market
Hosted by
Angelman Syndrome Foundation & Dup15q Alliance
Time
Title
Location
Presenter
-
Symposium Registration Desk Open
-
Registration Booth A
Registration Booth A
-
Breakfast On Your Own
-
Various
Various
SESSION #4: UBE3A Function
-
Epilepsy iPSC models
-
Kilimanjaro 1
Kilimanjaro 1
-
Inhibitory Neural Circuitry Driving Seizure Phenotypes in a Mouse Model of Angelman Syndrome
-
Zambezi
Zambezi
-
White Matter Deficit and Delayed Myelination in Angelman syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Linking UBE3A Misexpression to Altered Circuit Dynamics Controlling Skilled Movements
-
Kilimanjaro 1
Kilimanjaro 1
-
Understanding the Molecular Mechanisms that Goven Synaptic Plasticity and Neuronal Function
-
Kilimanjaro 1
Kilimanjaro 1
-
UBE3A and Gut Function in Angelman syndrome Mice
-
Kilimanjaro 1
Kilimanjaro 1
-
BREAK
-
Various
Various
SESSION #5: ASOs & Clinical Trial Updates
-
Kicho: A Parent-led Drug Discovery Program
-
Kilimanjaro 1
Kilimanjaro 1
-
Boosting UBE3A Expression with Antisense Oligonucleotides Targeting 5’UTR Splicing
-
Kilimanjaro 1
Kilimanjaro 1
-
PACIFIC Trial Update
-
Kilimanjaro 1
Kilimanjaro 1
-
Results from TANGELO, a Phase 1 Open Label Multicenter Study of Rugonersen
-
Kilimanjaro 1
Kilimanjaro 1
-
Results from the prematurely terminated Phase 2 trial of basmisanil in children with Dup15q syndrome (Quindecim study)
-
Kilimanjaro 1
Kilimanjaro 1
-
Break for a Boxed Lunch
-
Kilimanjaro 1
Kilimanjaro 1
SESSION #6: Newborn Screening and Clinical Features
-
Long Read Sequencing for Angelman Syndrome in Newborn Screening
-
Kilimanjaro 1
Kilimanjaro 1
-
In Utero Antisense Oligonucleotide Administration in Mice
-
Kilimanjaro 1
Kilimanjaro 1
-
Assessment of a Screening Assay for NBS for Angelman syndrome, Prader-Willi Syndrome, and Duplication 15q syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
High Frequency Ultrasonic Vocalizations are Disrupted in a Mouse Model of Angelman Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Duplication 15q Syndrome: A Parental Genetic Education Needs Assessment
-
Kilimanjaro 1
Kilimanjaro 1
-
The Tale of two Therapies for Angelman syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
BREAK
-
Various
Various
SESSION #7: Outcome Measures
-
Improving Administration of Critical Outcome Measures in Clinical Trials
-
Kilimanjaro 1
Kilimanjaro 1
-
C-BiLLT in Angelman Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Feasibility and Acceptability of PANDABox Virtual Assessment for Infants and Toddlers with Angelman Syndrome
-
Kilimanjaro 1
Kilimanjaro 1
-
Development of an Observer-Reported Outcome Measure for Behaviors Associated with Anxiety in Angelman Syndrome: Results from the Concept Elicitation Phase
-
Kilimanjaro 1
Kilimanjaro 1
-
Construct Validity of the Angelman Syndrome Video Assessment (ASVA)
-
Kilimanjaro 1
Kilimanjaro 1
-
Final Questions & Wrap Up
-
Kilimanjaro 1
Kilimanjaro 1
Thank You to Our Sponsors
