2019 Research Symposium

July 23 -24, 2019  *  Louisville, KY 

Angelman Syndrome Foundation 2019 Research Symposium and Family Conference

The 2019 ASF Research Symposium features two full days of world-class scientific, translational and clinical presentations. The symposium allows for the sharing of unpublished work, which leads to conceptual discussions with an outstanding community of researchers and clinicians, helping accelerate therapeutic opportunities for both disorders.

The cost to attend is $275 until July 1 and $325 after.
The student rate is $150 until July 1 and $175 after.

online registration closed July 8

Thank You Event Sponsors

Roche logo
Gold Sponsor
Ultragenyx Pharmaceutical
Gold Sponsor

Schedule subject to change. More details to come.


Tuesday, July 23

Speaker / Topic

7:00 am – 6:30 pm

Registration Desk Open

7:15 am


8:30 am


8:45 am

Noelle Germain, Ph.D.
University of Connecticut Health

Investigating the efficacy of novel therapeutic approaches for restoring UBE3A expression in human Angelman syndrome neurons

9:30 am

Ype Elgersma, Ph.D.
Erasmus Medical Center, Rotterdam

Angelman Syndrome-associated mutations reveal the mechanism and importance of UBE3A nuclear targeting

10:15 am

Jason Yi, Ph.D.
Washington University, St. Louis

A functional genetics approach to dissect UBE3A regulation

11:00 am


11:30 am

Steven Gray, Ph.D.
University of Texas Southwestern Medical Center

Steps Toward Gene Therapy for Angelman Syndrome

12:00 pm

Bin Gu, Ph.D.
UNC-Chapel Hill

Cannabidiol attenuates seizures and EEG abnormality in Angelman syndrome model mice

12:45 pm


1:45 pm

David Godler, PhD
Murdoch Children’s Research Institute in Melbourne, Australia

Prevalence and Feasibility of Newborn Screening for Chromosome 15 Imprinting Disorders: Progress to Date from 20,000 Infants 

2:30 pm

Mark Zylka, Ph.D.
UNC-Chapel Hill

Development of a CRISPR/Cas9-based treatment for Angelman syndrome

3:15 pm


3:45 pm

Scott Dindot, Ph.D.
Texas A&M University

An Antisense Oligonucleotide Therapy for Angelman Syndrome

4:30 pm

Michelle Krishnan
Roche – Translational Medicine Leader, Rare Diseases

Endpoint Enabling Study in Angelman Syndrome (FREESIAS)

4:50 pm

Frank Rigo, PhD
Executive Director, Ionis Pharmaceuticals

5:10 pm


5:45 pm


Wednesday, July 24

Speaker / Topic

7:00 am – 630 pm

Registration Desk Open

7:00 am


8:15 am

Larry Reiter, PhD
University of Tennessee Health Science Center

Synergistic in vivo interactions between UBE3A and HERC2 reveal defects in ASD-like behaviors, synaptic morphology and circadian rhythm in Drosophila

8:40 am

Melinda Peters
University of South Florida, Tampa

Intracerebroventricular AAV injection of human UBE3A recovers deficits in a mouse model for Angelman syndrome

9:05 am

Ulrika Beitnere, PhD
University of California, Davis

Delivery of an Artificial Transcription Factor and a RNA-targeting nuclease for Angelman Syndrome using AAV-PHP.eB

9:30 am

Emma Baker, PhD
Murdoch Children’s Research Institute in Melbourne, Australia

Peripheral Blood Biomarkers as Predictors of Phenotypes Related to Brain Specific Changes in Angelman Syndrome

9:55 am

Lynne Bird, M.D.
Rady Children’s Hospital, San Diego

STARS: Results from a safety and efficacy study of OV101 (gaboxadol) in adults and
adolescents with Angelman syndrome

10:15 am


10:35 am

Karen Bindels-de Heus
Erasmus Medical Center, Sophia

An overview of health issues and development in a large clinical cohort of children with AS

11:00 am

Wen-Hann Tan, MD
Boston Children’s Hospital

Natural History Study – What have we learned and what more can we learn?

Gina Schur and Anna Booman
Boston Children’s Hospital

A Novel Method to Study Natural History in Angelman Syndrome: Use of Home-Based Video Recordings

Catherine Merton
Boston Children’s Hospital

Case Study: 21-year-old adult with Angelman syndrome with fluent verbal and independent functional living skills

11:40 am

Bridgette Tonnsen, PhD
Purdue University, Department of Psychological Sciences

Novel Remote Outcome Measures for Young Children with Angelman Syndrome

12:15 pm

Break to get boxed lunch

12:20 pm

Bianaca van Iperen-Kolk
Erasmus Medical Center, Sophia

Gait analyses of children with the Angelman syndrome. What is achievable?

12:45 pm

Research Blitz: 1-minute talks

Cindy Navis  |  Maartja ten Hooven  |  Anne Wheeler, PhD 

Parking at the Marriott for Hotel Guests

The parking garage is located on the south side of the hotel off Liberty Street. It is an underground garage within the hotel.

When you enter the garage, you will take a white ticket. Upon check in, make sure to tell the associate you are parking so that they can activate your key card.

The self-parking rate is $19 for overnight guests. Valet parking is not applicable at this discount.

Upon departure, use your room key card to raise the gate and then drop your key card in the box.


Parking Near the Conference for those Not Staying at the Hotel

There are parking lots/garages within blocks of the hotel where you can pay a daily parking fee. 

Below are a few options:

  • Jefferson Centre Garage ($10 per day) – 115 W. Jefferson St
  • Stark’s Parking Center ($10 per day)  – 430 S. Third St.
  • YMCA Outdoor Lot – ($3 per day)  –  601 S. Third St.

See these and more parking options here.

The 2019 ASF Research Symposium will take place at:

Louisville Marriott Downtown
280 W Jefferson St, Louisville, KY 40202

Marriott Louisville Downtown

Room rate: $159/night + tax.  For rooms reserved by June 30.

Group name: Angelman Syndrome

UPDATE: Hotel rooms at Louisville Marriott Downtown are full on Tuesday, July 23

The ASF has arranged for an overflow hotel one block over from the Louisville Marriott Downtown. 

Springhill Suites Louisville Downtown
132 E Jefferson – Louisville, Kentucky
(502) 569-7373

Room rate: $159/night + tax.  For rooms reserved by July 12.
Group name: Angelman Syndrome Foundation