2025 ASXL Research Symposium program
Sunday, October 19 - Monday, October 20, 2025
Simmons University
Boston, Massachusetts, U.S.A.
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 (date and location to be announced).
Accepting poster abstracts by Monday, September 29: Abstracts focused on basic, translational, and clinical research will be considered on broad range of topics that advance our understanding of the ASXL genes and medical management of their related disorders. Abstracts may include work from related fields if the work includes insights that could be translated to the ASXL community. Abstracts must be received by Monday, September 29 to be considered for inclusion in the poster session. Learn more
Schedule at a glance
Sunday, October 19
8:30am-7:00pm
Basic and translational science talks
Workshop sessions
Poster session, including trainee posters
Monday, October 20
8:30am-12:30pm
Clinical research talks
Full agenda
Sunday, October 19
Schedule subject to change
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
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Karim-Jean Armache, PhD
NYU Grossman School of Medicine
Structural Mechanisms of Epigenetic Regulation: Insights into PR-DUB and ASXL1 Function
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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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Jürg Müller, PhD
Max-Planck Institute of Biochemistry
The low complexity region in Asx and its mechanism for targeting PR-DUB to DNA
Developmental biology and pathogenic models of ASXL disorders
11:00am-12:30pm
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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
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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
Workshops
3:30-5:00pm
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Biochemistry and molecular biology
Focus groups: Technical problems, negative data, collaborations, and resources
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Developmental and translational biology
Focus groups: Technical problems, negative data, collaborations, and resources
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Clinical research
Workshop: Developing a severity assessment for ASXL-related disorders
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
Initial investigation of Cortical Visual Impairment in ASXL-Related Disorders
Amy Magallanes, MS*
Kennedy Krieger Institute and Johns Hopkins Medical Center
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
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
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
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
Monday, October 20
Insights from the ASXL family community: Barriers and motivations to research participation
8:30-9:00am
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Amanda Johnson
ARRE Foundation
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Sarah Scott
ARRE Foundation
Improving neurodevelopmental phenotyping, outcome assessment, and intervention in ASXL-related disorders: Lessons from habilitative therapies (Part 1)
9:00-10:20am
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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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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
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Kristina T. Johnson, PhD
Northeastern University
Language and communication for 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
Closing remarks
12:15pm-12:30pm
Thank you to our event sponsors!
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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