2025 ASXL Research Symposium program
Sunday, October 19 - Monday, October 20, 2025
Simmons University
Boston, Massachusetts, U.S.A.
Venue information
The annual ASXL Research Symposium brings together scientists and clinicians from around the world to drive ASXL research forward. This meeting seeks to build and support a foundation of research upon which therapeutic treatments and standards of care can be developed for ASXL-related disorders. This highly collaborative and intimate meeting cultivates new collaborations and facilitates the sharing of data, knowledge, reagents, and resources.
This meeting is for scientists and research professionals. The next meeting that will include the ASXL Family Conference will be in 2026.
Schedule at a glance
Sunday, October 19
8:30am-7:00pm
8-8:30am: Registration
8:30am-3:30pm: Basic and translational science talks
12:30-1:30pm: Networking lunch
3:30-5:30pm: Workshop sessions
5:30-7:00pm: Poster session and reception
Monday, October 20
8:30am-12:30pm
8-8:30am: Registration
8:30am-12:30pm: Clinical research talks
12:30-1:30pm: Lunch (to stay or go)
Full agenda
Sunday, October 19
Helen G. Drinan Hall - 5th Floor; Simmons University
See detailed location and venue information
Registration/check in
8:00-9:30am
Light breakfast and coffee/tea served
Welcome and introduction
8:30-9:00am
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Laura Badmaev
Founder and Chair, ARRE Foundation
Welcoming remarks
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Karen Ho, PhD
Chief Scientific Officer, ARRE Foundation
Welcoming remarks
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Eric Conway, PhD
ARRE Foundation Medical and Scientific Advisory Board; University College Dublin
Overview of the day
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Bianca Russell, MD
University of California, Los Angeles
Overview of the clinical phenotype of ASXL-related disorders
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Stephanie Bielas, PhD
University of Michigan
Overview of the ASXL genes
Molecular mechanisms of ASXL proteins
9:00-10:30am
Moderator: Rob Illingworth, PhD (University of Edinburgh)
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Karim-Jean Armache, PhD
NYU Grossman School of Medicine
Visualizing the mechanisms of epigenetic inheritance and regulation
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Lucy Doyle
University of Edinburgh
Investigating the importance of H2AK119ub balance and Polycomb subunit expression dynamics during neurodevelopment
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Michael Sigfrid S. Reyes
UCLA and University of the Philippines Manila
ASXL1 mutations drive metabolic alterations through mitochondrial dysfunction
Developmental biology and pathogenic models of ASXL disorders
11:00am-12:30pm
Moderator: Eric Conway, PhD (University College Dublin)
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Thomas Koehnke, MD, PhD
Stanford University
Modeling ASXL1 mutations in primary human stem cells
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Lu Wang, PhD
Northwestern University
Decoding the BAP1 complex: From chromatin regulation to disease pathogenesis
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Michael Rauchman, MDCM
Washington University School of Medicine
Diverse mechanism of developmental defects in Townes-Brocks, an autosomal dominant syndrome
Networking lunch
12:30-1:30pm
Functional genomics and chemical biology approaches in ASXL disorders
1:30-3:00pm
Moderator: Stephanie Bielas, PhD (University of Michigan)
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Ollie Bell, PhD
Keck School of Medicine of the University of Southern California
Development of selective chemical probes targeting PRC1 functions
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Tomasz Cierpicki, PhD
University of Michigan
Discovery of small molecule inhibitors of Polycomb Repressive Complex 1 as novel therapeutic agents
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Vijay Kumar M.J., MSc, PhD
University of Texas Health Science Center at Houston
The G-quadruplex helicase DDX5 regulates ASXL3 expression in human astrocytes
Recognition of travel grant recipients and ARRE Foundation Research Advocate honoree
3:00-3:15pm
Presented by: Karen Ho, PhD (ARRE Foundation) and Daniel Ordower (ARRE Foundation)
Group photo and break
3:15-3:30pm
Workshops: Advancing progress toward therapeutic development and clinical trials
3:30-5:30pm
Workshop participation assigned based on registration preferences; see badge for assignment
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Workshop A (basic/translational science)
Preclinical drug development: What we need to succeed
3:30–3:45pm: Find your assigned table(see assignment on badge)
3:45–3:50pm: Introduction to workshop activity
Karen Ho, PhD (ARRE Foundation)3:50–4:05pm: Gene therapies for rare disease: An overview of current approaches and challenges
Andrew Steinsapir (Deerfield)4:05–5:00pm: Table breakout sessions: Development of specific aims for assigned area
Table moderators:
Valerie Arboleda, MD, PhD (UCLA)
Stephanie Bielas, PhD (University of Michigan)
Eric Conway, PhD (University College Dublin)
Rob Illingworth, PhD (University of Edinburgh)5:00–5:30pm: Group discussion of findings
Facilitators:
Karen Ho, PhD (ARRE Foundation)
Rob Illingworth, PhD (University of Edinburgh) -
Workshop B (clinical research)
Developing a clinical severity assessment for ASXL-related disorders
3:30–3:35pm: Introduction to workshop activity
Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)3:35–3:55pm: Review of other severity assessments and CGIs
Audrey Thurm, PhD (Boston Children’s Hospital)3:55–4:15pm: Real-world experience: Creating, modifying, and applying severity assessments
Megan Abbott, MD (Children’s Hospital Colorado)4:15–4:30pm: Context for ASXL-related disorders: Phenotype overview, family-defined priority domains, and review of existing severity assessment for ASXL1
Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)
Bianca Russell, MD (UCLA)4:30–5:30pm: Discussion
Moderators:
Rujuta Wilson, MD (UCLA)
Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)
Bianca Russell, MD (UCLA)
Poster session and reception
5:30-7:00pm
Sponsored by Jamie and Daniel Ordower
Posters
*denotes travel grant recipient
Additional abstracts may be submitted for consideration for the poster session by Monday, September 29. Learn more
Investigating MBD5 and its contribution to PR-DUB complex function in the developing brain
Firuze Unlu Bektas*
University of Edinburgh
Chemical Rescue of ASXL3 expression in a stable cell model of Bainbridge-Ropers syndrome using readthrough agents
Amy Brady, MAEd, CNMT*
University of Alabama at Birmingham
‘Reading’ between the lines: investigating epigenomic function of ASXL PHD domains
Sarah Buggle*
University College Dublin
The functional role of Polycomb-mediated chromatin architecture during neuronal development
Eleftheria Chatzantonaki, PhD*
University of Edinburgh
Decoding the functions of ASXL1 mutations in hematopoietic malignancies and neurons
Zhen Dong, PhD*
La Jolla Institute for Immunology
Mechanistic evaluation of the effects of ASXL1 frameshift variants on Polycomb activity in Bohring-Opitz syndrome
Emma Doyle*
University College Dublin
Initial investigation of Cortical Visual Impairment in ASXL-Related Disorders
Amy Magallanes, MS*
Kennedy Krieger Institute and Johns Hopkins Medical Center
Initial use of the Physical Abilities and Mobility Scale (PAMS) in ASXL-Related Disorders
Heather B. McLean, PT, MPT, CBIS
Kennedy Krieger Institute
The importance of patient and academic partnerships in neurodevelopmental data collection for clinical trial readiness in ASXL-Related Disorders
Rachel Northrup*
Kennedy Krieger Institute
Functional profiling of ASXL3- and H2AK119ub1-linked pathology connects chromatin biology to neurodevelopmental disorders
Emily Peirent, BS*
University of Michigan
The role of Ring1b and Histone H2A monoubiquitination in brain development and disease
Samantha Regan, PhD
University of Michigan
Stem cell model of neurodevelopment for ASXL1 and ASXL2 mutations
Michael Sigfrid S. Reyes*
University of California, Los Angeles and University of the Philippines Manila
Using frogs to study the role of microtubules in Bainbridge-Ropers Syndrome
Christina Roca, MS*
University of California, San Francisco
The role of RNF2 missense variants in transcription
Jason Sheingold
University of Michigan
Understanding the role of ASXL1 in the rare genetic condition Bohring-Opitz Syndrome using an induced pluripotent stem cell model
Neerja Vashist, PhD*
University of California, Los Angeles
Monday, October 20
Helen G. Drinan Hall - 5th Floor; Simmons University
See detailed location and venue information
Registration/check in
8:00-9:30am
Light breakfast and coffee/tea served
Insights from the ASXL family community: Barriers and motivations to research participation
8:30-9:00am
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Amanda Johnson
ARRE Foundation
Enabling ASXL clinical research: Using the ARRE Foundation as a liaison between families and researchers
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Sarah Scott
ARRE Foundation
Results of the Family Research Engagement Survey: Barriers and motivations for family participation in ASXL research
Improving neurodevelopmental phenotyping, outcome assessment, and intervention in ASXL-related disorders: Lessons from habilitative therapies (Part 1)
9:00-10:20am
Moderator: Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)
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Natasha N. Ludwig, PhD
Kennedy Krieger Institute and Johns Hopkins School of Medicine
Review of clinical research projects in ASXL-related disorders
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Mary Wojnaroski, PhD
Nationwide Children’s Hospital
Updates from the Inchstone Project: What are we learning about ASXL-related disorders?
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Heather B. McLean, PT, MPT, CBIS
Kennedy Krieger Institute
Gross motor observations from the 2024 ASXL Family Conference: A physical therapy perspective and introduction of the Physical Abilities and Mobility Scale (PAMS) in ASXL-related disorders
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Julia T. O'Connor, PhD
Kennedy Krieger Institute
Qualitative analysis to understanding behavior challenges in ASXL-related disorders
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Beate Peter, PhD
Arizona State University
Knowledge is Power: How to leverage speech and language profiles of children with Bainbridge-Ropers syndrome toward improving outcomes
Improving neurodevelopmental phenotyping, outcome assessment, and intervention in ASXL-related disorders: Lessons from habilitative therapies (Part 2)
10:50am-11:30am
Moderator: Natasha Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)
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Kristina T. Johnson, PhD
Northeastern University
Understanding and augmenting communication of non- and minimally-speaking individuals with complex neurodevelopmental differences
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Latha Valluripalli Soorya, PhD
Rush University Medical Center
Functional Behavioral Treatment (FBT) adaptations for Neurogenic Sydromes: one treatment, two targets
Improving neurodevelopmental phenotyping, outcome assessment, and intervention in ASXL-related disorders: Lessons from habilitative therapies
11:30am-12:15pm
Discussion with all panelists
Moderator: Natasha N. Ludwig, PhD (Kennedy Krieger Institute and Johns Hopkins School of Medicine)
Closing remarks
12:15pm-12:30pm
Networking lunch
12:30-1:30pm
Boxed lunch to stay or go
Thank you to our event sponsors!
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Lauren and Jimmy Adams
Platinum Sponsor ($10,000)
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Jamie and Daniel Ordower
Poster Reception Sponsor ($5,000)
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Leo's Lighthouse
Silver Sponsor ($2,500)
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Ultragenyx
Partner ($500)
This program was partially funded through a Patient Centered Outcomes Research Institute® (PCORI®) Eugene Washington PCORI Engagement Award (EASO-42359). The views presented in this convening are are solely the responsibility of the author(s) and do not necessarily represent the views of PCORI®.
Not just a scientific meeting
You can contribute to improving the lives of hundreds of families living with ASXL-related disorders by attending the ASXL Research Symposium. There are so many unanswered questions — and we need your help to answer them.
ASXL Research Symposium Program Committee
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Valerie Arboleda, MD, PhD
UCLA
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Stephanie Bielas, PhD
University of Michigan
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Eric Conway, PhD
University College Dublin
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Natasha N. Ludwig, PhD
Kennedy Krieger Institute and Johns Hopkins University School of Medicine
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Bianca Russell, MD
UCLA
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Wen-Hann Tan, BMBS
Boston Children’s Hospital