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).
Schedule at a glance
Sunday, October 19
All day
Basic and translational science talks
Workshop sessions
Poster session including trainee posters
Monday, October 20
Half-day
Clinical research talks
Full agenda
Sunday, October 19
Schedule subject to change
Welcome
8:30-9:00am
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
Mechanisms of PR-DUB in 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
Molecular dissection of the gene essentiality and transcriptional reprogramming in cancer
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
Developing chemical probes against PRC1 to investigate the pathogenic mechanisms
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Tomasz Cierpicki, PhD
University of Michigan
Discovery of small molecule inhibitors of Polycomb Repressive Complex 1 as novel therapeutic agents
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
Posters
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
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
Monday, October 20
Insights from the ASXL family community: Barriers and motivations to research participation
8:30-9:00am
Improving neurodevelopmental phenotyping, outcome assessment, and intervention in ASXL-related disorders: Lessons from habilitative therapies
9:00-10:30am
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Beate Peter, PhD, CCC-SLP
Arizona State University
Knowledge is Power: How to leverage speech and language profiles of children with Bainbridge-Ropers syndrome toward improving outcomes
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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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Heather B. McLean, PT, MPT, CBIS
Kennedy Krieger Institute
Gross motor observations from the 2024 ASXL Family Conference: A physical therapy perspective
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Kristina T. Johnson, PhD
Northeastern University
Language and communication for individuals with complex neurodevelopmental differences
Additional clinical research session to be determined
11:00am-12:30pm
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