2026 ASXL Research Symposium
Thursday, June 25 - Friday, June 26, 2026
Sheraton Ann Arbor
Ann Arbor, Michigan, U.S.A.
The annual ASXL Research Symposium brings together innovative scientists, clinicians and industry leaders from around the world to drive ASXL research forward. This highly collaborative and interactive meeting establishes the critical foundation upon which therapeutic treatments and standards of care will be developed for ASXL-related disorders. By fostering new collaborations and facilitating the sharing of data, knowledge, reagents, and resources, this meeting unites our scientific community and accelerates our efforts to improve the quality of life of everyone living with an ASXL-related disorder.
This portion of the meeting is for scientists, doctors, and research professionals. ASXL Family Conference programming begins the evening of Friday, June 26.
Share your work at the ASXL Research Symposium with a poster. Abstracts are due by Monday, June 1.
Submit a poster
Program
Laura Badmaev is the Founder and Chair of the ASXL Rare Research Endowment Foundation and mother of Alex, who has Bohring-Opitz Syndrome (ASXL1). She holds a BS in Operations Research & Industrial Engineering from Cornell University, a Masters in Systems Engineering from Stevens Institute of Technology, and a Certificate in Leadership Excellence from Harvard. She is certified in Scaled Agile Framework and Six Sigma. Laura worked for the Department of Defense before joining American Express, where she has served in various roles for over a decade. American Express recognized Laura with the 2018 Top 10 Global Parent of the Year Award, the 2019 Mother of the Year (Working Mother Media), and the 2021 Chairman’s Award.
Dr. Bianca Russell is a clinical geneticist at UCLA who sees patients with metabolic and genetic conditions. She has been following patients with ASXL-related disorders since 2013 and started the ASXL Registry as a resident at Cincinnati Children’s, expanding it to include a biobank at UCLA. She received her MD from UC Irvine in 2013 and completed her residency in Pediatrics and Human Genetics at Cincinnati Children’s Hospital.
Dr. Stephanie Bielas is the Morton S. and Henrietta K. Sellner Professor in Human Genetics and Associate Professor of Human Genetics and Pediatrics at the University of Michigan Medical School. Her lab focuses on discovering the genetic basis of human neurodevelopmental disorders using mouse models and human forebrain organoids. She serves as a scientific advisor to the ARRE Foundation and Leo’s Lighthouse Foundation.
Michiel Vermeulen is Professor of Molecular Biology at Radboud University Nijmegen and Senior Group Leader at the Netherlands Cancer Institute. He pioneered the application of quantitative interaction proteomics to identify and characterize proteins that recognize epigenetic modifications, and has published over 250 scientific papers. He is a member of Academia Europaea and EMBO.
Beat Fierz studied molecular biology and biophysical chemistry at the University of Basel, earning his PhD in 2006 before postdoctoral training at Rockefeller University with Tom Muir. In 2012 he was appointed to the Sandoz Foundation Chair at EPFL, where he studies the structure, dynamics, and function of chromatin and related multi-protein complexes using an interdisciplinary approach combining chemistry, biology, and biophysics.
Emma obtained her undergraduate degree at Trinity College Dublin in 2022. She started her PhD in the Conway Chromatin Lab at University College Dublin in 2022, where her research focuses on Polycomb-related chromatinopathies, in particular Bohring-Opitz Syndrome, aiming to uncover mechanisms of epigenetic dysregulation caused by truncating ASXL1 variants.
Bio coming soon.
Epigenetic marks regulate chromatin structure and function, alter local chromatin environment, and affect DNA accessibility. Histone posttranslational modifications (PTMs) serve as docking sites for histone-binding domains or “readers”. This talk details the molecular mechanisms and biological roles of readers and their complexes, comparing specificities and highlighting the significance of crosstalk between PTMs. Novel functions of the ASXL proteins, methyltransferases MLL4 and MLL3, and BRD4 will be discussed.
Tatiana Kutateladze is a Professor in the Department of Pharmacology at the University of Colorado School of Medicine. Her research focuses on epigenetic and chromatin remodeling signaling, posttranslational histone modifications, and the role of epigenetic misregulation in human diseases. Her lab is credited with determining molecular bases underlying methyllysine and acyllysine recognition by epigenetic readers.
Dr. Morey is a Tenured Associate Professor at the Human Genetics Department at University of Miami and member of the Cancer Epigenetics Program at Sylvester Comprehensive Cancer Center. His lab focuses on how chromatin-modifying enzymes regulate oncogenic and developmental programs and how perturbations of epigenetic pathways can be exploited for therapeutic interventions.
Dr. Chao Lu received his PhD from the University of Pennsylvania and completed postdoctoral training at the Rockefeller University. He joined Columbia University in 2018 as an Associate Professor in the Department of Genetics and Development and the Herbert Irving Comprehensive Cancer Center. His lab uses high-throughput genetic and epigenomic technologies to study chromatin compartmentalization and regulation.
Dr. Val Arboleda is a physician-scientist trained in human genetics, genomics, and clinical pathology at UCLA. The overarching goals of her lab are to integrate large-scale datasets to improve biological understanding and clinical treatment of human disease, using bioinformatics and molecular genetic tools to validate findings in model systems.
Dr. Stephanie Bielas is the Morton S. and Henrietta K. Sellner Professor in Human Genetics and Associate Professor of Human Genetics and Pediatrics at the University of Michigan Medical School. Her lab focuses on discovering the genetic basis of human neurodevelopmental disorders using mouse models and human forebrain organoids. She serves as a scientific advisor to the ARRE Foundation and Leo’s Lighthouse Foundation.
Mice homozygous for loss of function mutations in Asxl1 exhibit embryonic lethality and have multiple developmental abnormalities including anophthalmia, microcephaly, cleft palate, and mandibular malformation. Asxl1 mutant mice also have anterior pituitary hypoplasia and dysmorphology, and absent posterior pituitary lobe. Conditional deletion of Asxl1 in the developing anterior pituitary had no effect on pituitary hormone gene expression, indicating that Asxl1 has important roles in anterior and posterior pituitary development prior to formation of the pituitary primordia.
Sally Camper is the Margery W. Shaw Distinguished University Professor of Human Genetics at the University of Michigan. She joined the U-M faculty in 1988, serving as founding Director of the Transgenic Animal Model Core and Chair of the Dept of Human Genetics. Her research interests include the genetic basis of neuroendocrine birth defects, mouse models of hypopituitarism, and pituitary stem cells.
The goal of Dr. Iwase’s research group is to elucidate chromatin regulatory mechanisms engaged in development and function of the brain. His lab studies post-translational modifications of histones as a ‘language’ describing nuclear events and investigates how mutations in histone modification regulators lead to neurodevelopmental disorders.
Rob Illingworth pursued a PhD with Sir Adrian Bird at the University of Edinburgh, developing tools to isolate DNA by methylation status and producing some of the first genome-wide DNA methylomes. After postdoctoral work in Prof. Wendy Bickmore’s lab at the MRC Human Genetics Unit, he established his lab in the Centre for Regenerative Medicine and Simons’ Initiative for the Developing Brain in Edinburgh in 2018.
Using single-cell technologies, we profiled histone modifications (H3K27ac, H3K27me3, H3K4me3) in human CNS organoids across a developmental time course, reconstructing epigenomic trajectories underlying cell identity acquisition from pluripotency. Cell fate decisions were accompanied by dynamic switching between repressive and activating epigenetic modifications at regulatory elements. We established a temporal census of regulatory elements and transcription factors integrated into gene regulatory networks governing human cerebral cell-fate acquisition.
Fides Zenk is a scientist working to understand how the human brain develops and what goes wrong in neurodevelopmental disorders. Her lab studies epigenetic mechanisms guiding nervous system formation using stem cell models, human brain organoids, and advanced genomic technologies to examine gene regulation at single-cell resolution.
Mutations in the ASXL genes cause Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes. While these genes regulate DNA packaging, we show they also play a role in cellular energy production. Loss of ASXL protein function causes cells to shift toward less efficient energy production and impairs mitochondrial function, opening new directions for potential therapies targeting metabolic pathways.
Dr. Val Arboleda is a physician-scientist trained in human genetics, genomics, and clinical pathology at UCLA. The overarching goals of her lab are to integrate large-scale datasets to improve biological understanding and clinical treatment of human disease, using bioinformatics and molecular genetic tools to validate findings in model systems.
Rob Illingworth pursued a PhD with Sir Adrian Bird at the University of Edinburgh, developing tools to isolate DNA by methylation status and producing some of the first genome-wide DNA methylomes. After postdoctoral work in Prof. Wendy Bickmore’s lab at the MRC Human Genetics Unit, he established his lab in the Centre for Regenerative Medicine and Simons’ Initiative for the Developing Brain in Edinburgh in 2018.
Dr. Stephanie Bielas is the Morton S. and Henrietta K. Sellner Professor in Human Genetics and Associate Professor of Human Genetics and Pediatrics at the University of Michigan Medical School. Her lab focuses on discovering the genetic basis of human neurodevelopmental disorders using mouse models and human forebrain organoids. She serves as a scientific advisor to the ARRE Foundation and Leo’s Lighthouse Foundation.
Amanda Johnson joined the ARRE Foundation in 2021 as its first staff member and leads fundraising, programs, events, and partnerships. Her proudest achievement is supporting the first GeneReviews article for Shashi-Pena Syndrome (published November 2024). She brings over 15 years of nonprofit experience and holds a BS from Ithaca College and an MA in Nonprofit Management from Notre Dame of Maryland University.
Karen Ho joined the ARRE Foundation in 2025 as Chief Scientific Officer. She has a BS in Biochemistry from Washington University (summa cum laude), a Masters in Genetics from Cambridge, a PhD in Developmental Biology from Stanford, and completed postdoctoral training at the University of Pennsylvania as an HHMI Fellow. She serves on several rare disease Scientific Advisory Boards and holds an adjunct faculty position at the University of Utah.
Dr. Val Arboleda is a physician-scientist trained in human genetics, genomics, and clinical pathology at UCLA. The overarching goals of her lab are to integrate large-scale datasets to improve biological understanding and clinical treatment of human disease, using bioinformatics and molecular genetic tools to validate findings in model systems.
Stuart Cobb is Professor of Translational Neuroscience at the University of Edinburgh, where his lab develops genetic therapies for neurological and neurodevelopmental disorders. His group was the first to report ameliorative gene therapy in a Rett syndrome mouse model. Since 2018 he has also served as Chief Scientific Officer at Neurogene, a clinical-stage gene therapy company.
Gregory Newby runs a research laboratory at Johns Hopkins University focused on gene editing treatments for genetic disease. He completed his postdoctoral fellowship with David Liu at the Broad Institute and Harvard, applying base editor and prime editor tools to models of disease including primary human cells and mouse models. He received his BS from Carnegie Mellon and his PhD in Biology from MIT.
Sarah Pierce is a postdoc in David Liu’s laboratory at the Broad Institute. Her research centers on gene editing and RNA engineering technologies for disease-agnostic therapeutic strategies, including programmable RNA-based platforms such as suppressor tRNAs to modulate translational outcomes and correct pathogenic mutations at the RNA level.
Dr. Bianca Russell is a clinical geneticist at UCLA who sees patients with metabolic and genetic conditions. She has been following patients with ASXL-related disorders since 2013 and started the ASXL Registry as a resident at Cincinnati Children’s, expanding it to include a biobank at UCLA. She received her MD from UC Irvine in 2013 and completed her residency in Pediatrics and Human Genetics at Cincinnati Children’s Hospital.
Dr. Rujuta B. Wilson is a behavioral child neurologist specializing in autism spectrum disorders and related neurodevelopmental disorders. She is an Assistant Professor at the UCLA David Geffen School of Medicine and leads the motor phenotyping core at UCLA CART. Her NIH-funded research focuses on quantitative motor phenotyping to improve characterization of motor development in NDDs.
Dr. Jacqueline Harris is the Director of the Epigenetics Clinic at Kennedy Krieger Institute and Associate Professor of Neurology, Pediatrics, and Genetics at Johns Hopkins. Her work focuses on Mendelian Disorders of the Epigenetic Machinery and all aspects of clinical trial readiness, including neurodevelopmental phenotyping, natural history, outcome measures, and biomarker development.
Bio coming soon.
For children with severe developmental delays affecting cognition, movement and communication, cognitive testing is more complicated and not well served by typical neuropsychological assessment approaches. This presentation focuses on using “out of the box” techniques to access cognitive skills and strengths in children often described as “untestable patients”. The importance of establishing intact choice making capacity and the relative merits of cognitive neuroscience versus clinical strategies for assessment are discussed.
Dr. Jacqueline Kaufman is an Associate Professor at the University of Michigan, Department of Physical Medicine and Rehabilitation. She is a clinical pediatric rehabilitation neuropsychologist and founder/director of the Michigan-Adapted Cognitive Assessment Clinic. She is the co-founder and coach of the Ann Arbor Rockets, an adapted ice hockey team, and serves as board president for MI-UCP.
Dr. Mary Wojnaroski is a licensed clinical psychologist at Nationwide Children’s Hospital and Associate Professor of Pediatrics at The Ohio State University. She provides assessment and treatment of children with neurodevelopmental disabilities including autism, ADHD, and cognitive delay, with specialization in epilepsy. She is a core member of the Inchstone Project.
CVS has a complex multifactorial pathophysiology, including malfunction of cation membrane channels and mitochondrial dysfunction. Management is symptom-driven but solid evidence from RCTs is limited. ASXL-opathies suggest secondary neurogenic vomiting via chromatinopathy, distinct from idiopathic CVS. Future directions include RCTs, functional genomics, and CGRP trials.
Dr. Wiley’s research focuses on the brain-gut axis, including mechanisms underlying enteric nerve dysfunction in diabetes-associated neuropathy, chronic stress-associated enhanced abdominal pain, and the roles of endocannabinoids, epigenetics, and the microbiome in visceral hypersensitivity. Clinically he sees patients with functional GI disorders including chronic abdominal pain and cyclic vomiting.
Dr. Andres Jimenez-Gomez is a developmental neurologist focused on lifelong care of individuals with genetic neurodevelopmental disorders at Baylor College of Medicine / Texas Children’s Hospital. His clinical research focuses on deep phenotyping, natural history of monogenic neurodevelopmental conditions, behavioral biomarkers, and facilitation of clinical trials for rare diseases.
Dr. Natasha Ludwig is a clinical neuropsychologist and Program Director of the Developmental Neuropsychology Phenotyping Unit at Kennedy Krieger Institute. She is also an Assistant Professor of Psychiatry and Behavioral Sciences at the Johns Hopkins University School of Medicine. Her research focuses on measurement of cognitive and functional skills in individuals with genetic conditions associated with neurodevelopmental disorders (GCAND). Dr. Ludwig is also the sibling of an adult with Bainbridge-Ropers Syndrome (ASXL3) and shares the lived experience of many of the families in our community.
Karen Ho joined the ARRE Foundation in 2025 as Chief Scientific Officer. She has a BS in Biochemistry from Washington University (summa cum laude), a Masters in Genetics from Cambridge, a PhD in Developmental Biology from Stanford, and completed postdoctoral training at the University of Pennsylvania as an HHMI Fellow. She serves on several rare disease Scientific Advisory Boards and holds an adjunct faculty position at the University of Utah.
Attendee testimonials
“[This is a] small meeting interactions with clinicians and scientists. The size and focus of the meeting makes interactions very easy and productive. There is an energy to the ARRE Foundation meetings that makes them very engaging. I have attended two and developed collaborations from both.”
“Both meetings I have attended have improved my technical knowledge of ASXL and PR-DUB, but also hearing from and meeting ASXL family members is very inspiring and provides huge motivation to focus research more directly on ASXL syndrome research and adjacent research questions.”
“[The ASXL Research Symposium] expanded my understanding and helped me identify ways to modify my current [clinical] practices.”
Past ASXL Research Symposia
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2025 ASXL Research Symposium
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2024 ASXL Research Symposium
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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Rob Illingworth, PhD
University of Edinburgh
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Natasha N. Ludwig, PhD
Kennedy Krieger Institute and Johns Hopkins University School of Medicine
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Cory Rillahan, MD, PhD
Dana Farber Cancer Institute
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Bianca Russell, MD
UCLA
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Wen-Hann Tan, BMBS
Boston Children’s Hospital