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.
Program
By invitation only
Enjoy one complimentary drink on the ARRE Foundation
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. 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.
Our lab is using state-of-the-art quantitative mass-spectrometry based (interaction) proteomics and next generation DNA sequencing technology to decipher (epi)genetic regulation of gene expression in (differentiated) stem cells. In recent years, our lab has implemented and developed various proximity biotinylation workflows to characterize the proximal proteome for various chromatin associated protein complexes and epigenetic modifications. In this talk, Dr. Vermeulen will provide an update of these approaches and the results they have generated.
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.
We study how Polycomb group proteins modify chromatin. In particular, we recently revealed how Polycomb repressive complex 1 (PRC1), a ubiquitin ligase, searches, binds, and modifies chromatin to regulate gene expression. Using multi-color single-molecule imaging and FRET, we directly observe PRC1’s binding modes and dynamics in real time as it carries out ubiquitylation in a concerted reaction. This approach reveals individual reaction steps, enzymatic mechanisms, and the structural changes PRC1 induces in chromatin. Overall, our results show how chromatin modifications control chromatin structure and thus gene expression programs, providing mechanistic insights into chromatin regulatory processes.
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.
PR-DUB erases the repressive histone modification, H2AK119ub1, and comprises the enzymatic subunit, BAP1, and one of three paralogs, ASXL1-3. Somatic and germline variants in these subunits lead to cancer and developmental syndromes respectively. We have generated an isogenic mouse embryonic stem cell model system to determine the impacts of PR-DUB loss- vs gain-of-function variants in parallel. Both share a common mechanism in epigenomic disruption via the eviction of PRC2 from its target genes, impacting H3K27me3 levels. Variant ASXL1 causes genome-wide reductions in H2AK119ub1. The resulting reduction at Polycomb target promoters disrupts the PRC2.2-H2AK119ub1 recruitment axis, causing the convergent phenotypes of divergent PR-DUB variants and the disruption of transcriptional control at these genes. This gain-of-function appears to be caused by a major increase in the stability of the truncated protein, adjusting the balance of complex activity. These mechanisms contribute to our understanding of the role of H2AK119ub1 and PR-DUB across several human diseases and may shape the search for targeted treatments for patients.
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.
Dr. Conway is assistant professor at UCD, where his lab studies chromatin biology and epigenetics. His research team are focussed on understanding the contribution of histone modifications to gene regulation and how this can go awry in chromatinopathies and cancer. During his PhD and Post-Doctoral research in Dublin and Milan he studied the role of Polycomb Repressive Complexes in the deposition and removal of these histone modifications and how this can influence transcription. Importantly, this led Eric to study the tumour suppressor BAP1, the deubiquitinase subunit of the PR-DUB complex. This prompted Eric’s interest in the ASXL genes, which form part of the same PR-DUB complex, and has ultimately influenced his research group to study Polycomb-related chromatinopathies including Bohring-Opitz and Weaver syndromes to understand the basic mechanisms how gene variants can cause these disorders.
Epigenetic marks regulate chromatin structure and function, alter local chromatin environment, affect DNA accessibility and accelerate or impede DNA templated processes. Histone posttranslational modifications (PTMs) alter direct interactions between histones and DNA and serve as docking sites for the histone-binding domains or “readers”. This talk details the molecular mechanisms and biological roles of the readers and their complexes, comparing specificities and highlighting the significance of crosstalk between PTMs and the consequence of combinatorial readout for the recruitment of these complexes to chromatin. 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.
This talk will discuss recent progress in understanding the mechanisms mediated by mutations in PRC1 proteins and newly developed model systems. These advancements aim to shed light on how disruptions in PRC1 complexes interfere with neurodevelopmental programs.
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.
Dysregulation of histone H2AK119 mono-ubiquitination (H2AK119Ub) is implicated in a variety of human diseases including cancers and neurodevelopmental disorders. The molecular mechanisms underlying the regulation of H2AK119Ub dynamics, as well as its crosstalk with other chromatin modifications, remain incompletely understood. This talk covers recent work on the interplay between H2AK119Ub and DNA methylation and the identification of an H2AK119Ub regulatory network. Together, these studies provide insights into the pathogenesis and therapeutic targeting of H2AK119Ub-dysregulated human diseases.
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.
We created a mouse model harboring ASXL3 exon 11 frameshift variants that exhibits a dose-dependent increase in H2AK119ub1 and asynchronous neural differentiation, reinforcing a role for H2AK119ub1 regulation in cortical neuron fate specification.
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. Ongoing studies will examine the role of ASXL1 in the developing posterior lobe of the pituitary gland.
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.
Histone 3 Lysine 4 Methylation (H3K4me) is one of the best characterized histone modifications. Loss of function mutations in most writer and eraser enzymes of H3K4me causes neurodevelopmental disorders, yet the mechanisms underlying the pathogenesis remain incompletely understood. This talk provides an update on efforts to understand the roles of H3K4me enzymes in neurodevelopment and potential therapeutic strategies.
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.
How do genetically identical cells give rise to the remarkable diversity of cell types in the human brain? This process is driven by a tightly controlled sequence of fate restrictions from pluripotent progenitors and is governed by epigenetic mechanisms that regulate gene activity and associated regulatory elements. However, resolving these mechanisms during early human brain development has remained challenging.
In our lab, we develop single-cell technologies to map epigenetic modifications and resolve cell fate decisions at high resolution. Using these approaches, we profiled histone modifications (H3K27ac, H3K27me3, and H3K4me3) in human central nervous system organoids across a developmental time course and reconstructed the epigenomic trajectories underlying cell identity acquisition from human pluripotency.
We analyzed transitions from pluripotency to neuronal and glial terminal states, as well as differentiation from progenitors to retinal and brain regional identities through the neuroepithelium. We found that cell fate decisions were accompanied by dynamic switching between repressive and activating epigenetic modifications at regulatory elements.
Furthermore, we established a temporal census of regulatory elements and transcription factors and integrated them into gene regulatory networks governing human cerebral cell-fate acquisition.
Together, this work provides a single-cell, genome-wide atlas of histone modification dynamics during human brain organoid development and offers a framework to study the regulatory logic of cell fate decisions in both normal development and neurodevelopmental disorders.
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 a group of related developmental syndromes — including Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes — that share features such as intellectual disability, delayed development, and distinctive physical characteristics. While these genes have long been known to regulate how DNA is packaged and read in cells, this talk shows that they also play an important role in how cells produce and use energy. Using cells donated by individuals with these syndromes, as well as laboratory cell models, loss of ASXL protein function was found to cause cells to shift toward a less efficient form of energy production and impair the function of mitochondria, the powerhouses of the cell. These findings reveal a new dimension to how ASXL mutations affect the body and suggest that energy metabolism may contribute to the developmental and neurological features seen in affected individuals. This work opens new directions for research into potential therapies that target metabolic pathways in ASXL-associated syndromes.
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.
Brain development depends on tight control of H2AK119ub, a chromatin mark that supports correct spatiotemporal gene expression patterns. The levels and distribution of this mark are regulated by two opposing protein complexes: PRC1, which adds H2AK119ub, and PR-DUB, which removes it. Pathogenic variants in genes encoding PRC1 and PR-DUB subunits cause rare, and often phenotypically overlapping, monogenic neurodevelopmental disorders (NDDs). Work from this lab and others has demonstrated that neural precursor cells that cannot maintain normal H2AK119ub levels display gene mis-regulation and an ectopic developmental programme. This talk presents recent research that looks at how disruption of H2AK119ub regulators reshapes the epigenome and explores shared mechanisms that could be targeted therapeutically in H2AK119ub-associated NDDs.
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.
Gene therapy has potential application in a range of neurodevelopmental disorders. This talk presents the translational path to developing a gene therapy from early proof of concept through to clinical development, highlighting critical steps in the process and giving examples of how patient and family foundations can support key aspects of the journey.
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.
Base editing and prime editing technologies have enabled efficient in vivo correction of mouse models of disease. There are currently over a dozen clinical trials using these tools to address monogenetic disease. This talk presents the mechanisms of editing and preclinical data on the correction of liver and brain, discussing the current capabilities and limitations of existing technology.
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.
Precise genome-editing technologies have the potential to correct many disease-causing mutations, but most approaches require the development of a unique therapeutic for each variant. This talk presents a more generalizable strategy for treating diseases caused by premature stop codons by using prime editing to permanently convert an endogenous transfer RNA (tRNA) into an engineered suppressor tRNA (sup-tRNA). Through iterative screening of thousands of human tRNA variants, optimized sup-tRNAs were identified that efficiently promote readthrough of premature stop codons without requiring toxic overexpression. Using this approach, termed prime editing-mediated readthrough of premature termination codons (PERT), protein expression was restored in cellular models of Batten disease, Tay-Sachs disease, and cystic fibrosis, and disease pathology was rescued in a mouse model of Hurler syndrome. Importantly, PERT did not induce detectable readthrough of natural stop codons or cause major transcriptomic or proteomic changes, highlighting its specificity and therapeutic potential as a disease-agnostic genome-editing platform.
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.
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.
The UCLA ASXL-Related Disorders Natural History Study (ASXL NHS) and the Rare Epigenetic and Chromatin Disorders Biobank (REACH Biobank) are key pillars of the ASXL research ecosystem, supporting both clinical trial readiness and improvements in patient care. Since 2018, these efforts have expanded our understanding of the clinical and biological features of ASXL-related disorders and have contributed to numerous publications on biomarkers, disease mechanisms, and clinical outcomes. Together, the studies include more than 190 participants and nearly 90 biological samples, creating a robust foundation for translational research and therapeutic development. In this presentation, I will highlight key findings and accomplishments from these studies and discuss priorities and opportunities for future research.
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.
Motor impairments are highly prevalent across genetic neurodevelopmental conditions and can significantly impact communication, adaptive functioning, and independence. This presentation highlights the importance of motor function as a core domain of investigation in genetic neurodevelopmental disorders and discusses approaches for quantitatively characterizing motor phenotypes. It reviews the use of objective motor measures to enhance phenotypic assessment and examines how these tools can be applied in ASXL-related conditions to improve understanding of clinical presentation, variability, and natural history.
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.
Mendelian disorders of the epigenetic machinery (MDEMs) are a group of disorders that may be particularly amenable to therapeutic interventions. However, before therapies can be tested, robust outcome measures and biomarkers specific to the disease must be developed. This talk covers how the Harris lab has done this for several MDEMs and concludes with how this may be applicable to ASXL disorders.
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.
Dr. Wen-Hann Tan a clinical geneticist at Boston Children’s Hospital with an interest in diagnosis and management of rare genetic syndromes, including pediatric cancer predisposition syndromes, vascular malformations, and other unusual clinical findings. He has also been actively involved in a longitudinal natural history study and various clinical trials in Angelman syndrome, which is a rare neurodevelopmental disorder.
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 who are 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. With a focus on identifying and building on skills rather than focusing on deficits, adapted testing is discussed as an opportunity to facilitate cognitive growth in children with complex delays.
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.
The Inchstone Project is focused on advancing neurodevelopmental measures for individuals with intellectual disability and severe neurological impairment. This talk covers two topics: current projects including the Parents Speak Survey 2, and the importance of small steps in development to quality of life.
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, i.e. randomized controlled trials (RCTs), is limited.
- ASXL-opathies: evidence suggests secondary neurogenic vomiting via chromatinopathy, distinct from idiopathic CVS.
- Unknown-unknowns: lack of biomarkers, modifiers, sequelae.
- Future directions: RCTs, functional genomics, 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. Dr. Ludwig serves patients with a wide variety of medical and neurodevelopmental conditions from birth through adulthood primarily with an identified or presumed genetic etiology. 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
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