2025 ASXL Research Symposium

Speaker biographies and abstracts

Listed alphabetically by last name

Megan Abbott, MD

University of Colorado

Measuring better: How we determine severity in neurogenetic conditions

  • Dr. Megan Abbott is a pediatric epileptologist at Children’s Hospital Colorado, embarking on a career in clinical research focused on outcome measures in developmental and epileptic encephalopathies (DEEs). She is working to establish new multi-disciplinary clinics, generate gene-specific datasets, and devise outcome measures applicable to various DEE populations. Having grown up with a brother with autism, she has both a personal and professional connection to working with rare disease families. She is excited to begin this work with the hope that we can advance further towards clinical trial readiness and disease modifying therapies for DEEs.

Valerie Arboleda, MD, PhD

UCLA

ASXL Research Symposium Program Committee

  • I am a physician-scientist trained in human genetics, genomics and clinical pathology.

    The overarching research goals in my lab is to integrate large-scale data sets to improve our biological understanding and clinical treatment of human disease. In no other time in human history do we have such rich biological and clinical data, the bioinformatics tools to explore these relationships on a large scale, and the molecular genetic tools to rapidly experimentally validate findings in model systems.

Karim-Jean Armache, PhD

NYU Grossman School of Medicine

Visualizing the Mechanisms of Epigenetic Inheritance and Regulation

  • Karim-Jean Armache, Ph.D., is the Laura and Isaac Perlmutter Professor of Biochemistry at NYU Grossman School of Medicine. His research focuses on the mechanistic basis of chromatin regulation, with emphasis on Polycomb and Trithorax group complexes, histone modifications, and the epigenetic control of gene expression. Using integrative approaches spanning structural biology, chemical biology, biochemistry, and cell biology, Dr. Armache’s lab has uncovered fundamental mechanisms of key chromatin‐modifying enzymes and identified new therapeutic opportunities in cancer and developmental disorders.

  • H2AK119 monoubiquitination (H2AK119ub) is a central chromatin modification deposited by Polycomb Repressive Complex 1 (PRC1), removed by BAP1/ASXL1, and recognized by DNMT3A1. Mutations in these complexes disrupt the dynamic balance of H2AK119ub deposition, removal, and recognition, leading to widespread epigenetic misregulation. These mechanisms place H2AK119ub at the core of developmental regulation and disease-associated chromatin dysfunction. I will present new mechanistic insights from our studies of these complexes.

Laura Badmaev

ARRE Foundation

  • Laura is the Founder and Chair of the ASXL Rare Research Endowment Foundation and mother of Alex, who has Bohring-Opitz Syndrome (ASXL1). She is passionate about supporting evidence-based research and improving management of care for ASXL families. Laura grew up in the New York metropolitan area and eventually relocated to southern Maine where she lives with her husband, Michael, and their children, Alexander, Abigail, and Natalia. She is the first person in her family to attend college and has a B.S. in Operations Research & Industrial Engineering from Cornell University, and a Masters in Systems Engineering and Graduate Certificate in Engineering Management from Stevens Institute of Technology. She has completed a Certificate in Leadership Excellence from Harvard and is certified in Scaled Agile Framework as well as Six Sigma. Laura worked for the Department of Defense as an Integrated Logistics Support Manager and Research & Development Systems Engineering Advisor for several years. After completing her masters degree, she changed careers to work for American Express where she has served in various consultative and capability development roles for over a decade. American Express recognized Laura with the 2018 Top 10 Global Parent of the Year Award, 2019 Mother of the Year for Working Mother Media’s 100 Best Companies, and 2021 Chairman’s Award. Laura enjoys traveling and building relationships with individuals from around the world and learning about different cultures.

Oliver Bell, PhD

Keck School of Medicine of the University of Southern California

Development of selective chemical probes targeting PRC1 functions

  • Oliver Bell obtained his PhD in the lab of Dr. Dirk Schuebeler at the Friedrich Miescher Institute in Basel, Switzerland, where he studied the distribution and function of active histone modifications. For his postdoctoral training, he joined the lab of Dr. Gerald Crabtree at Stanford University, developing a reductionist approach to study the kinetics and inheritance of heterochromatin in living cells. In his own laboratory, Dr. Bell employs genetics and chemical biology approaches to investigate how heterochromatin regulators control cell identity in development and in disease.

  • Dysregulation of Polycomb Repressive Complexes 1 and 2 (PRC1 and PRC2) is associated with various human malignancies, including cancer. While PRC2 has been the primary focus of pharmaceutical research, our lab’s objective is to develop chemical probes that can specifically antagonize different PRC1 activities. Validated and selective PRC1 antagonists could provide unique insights beyond conventional genetic techniques to enable mechanistic exploration and assess preclinical target validity, motivating future drug development efforts and impacting patient care.

Stephanie Bielas, PhD

University of Michigan

ASXL Research Symposium Program Committee

Advisor, ARRE Foundation Medical and Scientific Advisory Board

  • 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. Research in her lab focuses on discovering the genetic basis of human neurodevelopmental disorders. The Bielas lab performs functional follow-up using mammalian models of neural development, including primarily mouse models and human forebrain organoids. The Bielas lab has revealed novel features of human brain development and pathogenic mechanisms that are critical for developing therapeutic interventions. Dr. Bielas serves as a scientific advisor to Leo’s Lighthouse Foundation and ASXL Rare Research Endowment Foundation. Dr. Bielas also serves a principle investigator building clinical and research infrastructure to improve access to pediatric genetic diagnostic testing in India. This highly impactful research has been critical for identifying founder variants, with the direct impact of reducing testing cost, expanded availability of genetic testing to potential carriers and highlighting therapeutic targets.

Tomasz Cierpicki, PhD

Department of Pathology, University of Michigan

Discovery of small molecule inhibitors of Polycomb Repressive Complex 1 as novel therapeutic agents

  • Dr. Cierpicki is a Professor in the Department of Pathology at the University of Michigan. His research interest is in the area of chemical biology and cancer epigenetics. Current focus of his research is development of small molecule inhibitors for novel and challenging proteins in cancer. His laboratory discovered first-in-class inhibitors of menin as well as other epigenetic proteins including PRC1, NSD1 and GAS41.

  • Polycomb Repressive Complex 1 (PRC1) is a key epigenetic regulator that controls gene expression by modifying chromatin structure, primarily through monoubiquitination of histone H2A. We have developed first-in-class small-molecule inhibitors of PRC1 that bind to RING1A and RING1B, leading to a global reduction of H2Aub in cells. Treatment of multiple leukemia cell lines with these inhibitors results in potent growth inhibition, induction of differentiation, and in vivo efficacy. These findings highlight the potential of PRC1-targeting small molecules as novel therapeutic agents.

Eric Conway, PhD

University College Dublin

ASXL Research Symposium Program Committee

Advisor, ARRE Foundation Medical and Scientific Advisory Board

  • Dr. Conway completed his PhD in 2017 in Prof. Adrian Bracken’s lab at Trinity College Dublin. His Doctoral work focused on defining the function of a new vertebrate-specific family of Polycomb Repressive Complex 2 proteins, called PALI1 and PALI2. For his Post-doc, Dr. Conway joined Prof. Diego Pasini’s group at the IEO in Milan where he worked primarily on the contribution of H2AK119ub1 to transcriptional repression and chromatin compaction. This work focussed in particular on the tumour suppressor BAP1 and how to target BAP1-null cancers. Dr. Conway returned to Ireland in 2022 to establish his own research group at UCD focused on the mechanisms of chromatin architecture dysregulation in human disease. Dr. Conways lab focuses on establishing the molecular mechanisms of chromatin and transcriptional regulation. Mutations in epigenetic regulators that control these processes often drive human disease such as cancer and neurodevelopmental syndromes. This includes a major focus on the role of mutations in ASXL1 which can cause acute myeloid leukemia and Bohring-Opitz syndrome. The group uses next-generation genomics and molecular biology techniques such as Hi-C, Hi-ChIP, STORM, CUT&Tag, ChIP-seq and RNA-seq to explore the function of these epigenetic regulators. The ultimate aim is to understand the pathological role of these proteins in order to improve patient treatment. 

Lucy Doyle

University of Edinburgh

Investigating the importance of H2AK119ub balance and Polycomb subunit expression dynamics during neurodevelopment

  • Lucy Doyle is a PhD student in the Illingworth lab at the University of Edinburgh. Her research focuses on how epigenetic regulators, including PRC1 and PR-DUB, control neural stem cell fate and early brain development. Using a combination of biochemical approaches, single-cell and spatial transcriptomics, she investigates how changes in H2AK119ub and Polycomb subunit expression impact lineage specification and cortical organisation, with implications for understanding neurodevelopmental disorders.

  • H2AK119 monoubiquitination, deposited by PRC1 and counteracted by PR-DUB, is a key epigenetic mark controlling neural stem cell self-renewal and differentiation. Overlapping human neurodevelopmental disorders caused by mutations in PRC1 and PR-DUB subunits implicate the importance of this balance, yet the precise role of H2AK119ub remains unclear. Using a hypomorphic RING1B mouse model, we show that reduced H2AK119ub disrupts neural progenitor identity, leading to inappropriate activation of non-neural transcription factor networks and developmental defects. Synthetic activation experiments support a model in which H2AK119ub acts as a molecular buffer against lineage-inappropriate transcription. PRC1 and PR-DUB exist as multi-subunit complexes with diverse compositions, but their functional specificity during neurodevelopment is poorly understood. To address this, we analysed single-cell datasets of mouse brain development and performed MERFISH spatial transcriptomics, revealing distinct expression patterns of various PRC1 and PR-DUB subunit genes, suggesting region- and cell type–specific roles. These findings provide insight into how catalytic activity, transcription factor interactions, and dynamic subunit composition may collaboratively maintain lineage fidelity and contribute to our understanding of mechanisms by which Polycomb dysfunction leads to neurodevelopmental disorders.

Karen S. Ho, PhD

ARRE Foundation

Chief Scientific Officer

  • Karen is delighted to join the ARRE Foundation in 2025 as Chief Scientific Officer. Karen has spent the majority of her professional career in biotech, first as lead scientist at a startup diagnostic testing company, where she streamlined and innovated new methodologies for the scientific interpretation of genetic testing results for children with autism, developmental delays, and/or cognitive impairment, and presently as VP, Translational Medicine at Clene Nanomedicine, where she leads the development of a novel neuroprotective, remyelinating drug candidate for the treatment of neurodegenerative disease from basic science to early clinical studies. Karen trained as a basic scientist whose favorite model organism is the fruit fly.  After receiving her Bachelor of Science degree in Biochemistry summa cum laude from Washington University as a Compton Scholar, she lived in England for two years where she earned a Masters degree in Genetics from the University of Cambridge as a Marshall Scholar. She has a PhD in Developmental Biology from Stanford and completed her postdoctoral training as a National Sleep Foundation Pickwick Scholar and Howard Hughes Medical Institute Postdoctoral Fellow at University of Pennsylvania in the Department of Neuroscience.  Karen serves on several rare disease group Scientific Advisory Boards and holds a concurrent position as adjunct faculty at the University of Utah School of Medicine in the Department of Pediatrics, Division of Medical Genetics. She has gotten some of the best and most memorable hugs from children with rare disease. She lives in Salt Lake City, Utah with her husband, Suresh Venkatasubramanian, two inspiring sons, a very silly cat, and nearly 100 orchids.

Rob Illingworth, PhD

University of Edinburgh

ASXL Research Symposium Program Committee

Advisor, ARRE Foundation Medical and Scientific Advisory Board

  • Whilst studying Molecular Biology at the University of Edinburgh, Rob became fascinated by chemical modifications that could alter the functionality of DNA; a field known as epigenetics. This led Rob to embark on a PhD project with Sir Adrian Bird to develop novel biochemical tools to isolate DNA based on its methylation status. The timely advent of next generation sequencing provided a means to deep profile these isolates and, in so doing, to produce amongst the first genome-wide DNA methylomes from human and mouse cells. During this early phase of what is now known as ‘genomics’, a lack of analytical tools led Rob to develop his computational skills. He then leveraged this combination of genomics and bioinformatics in the lab of Prof. Wendy Bickmore in the MRC Human Genetics Unit. This postdoctoral research focussed on understanding the contribution of polycomb repressive complex 1(PRC1) structural and catalytic functions during early mammalian development. Through this work, Rob started to unpick the requirement for different functions of this essential regulator in the control of developmental gene expression in mammalian cells. In 2018, Rob established his lab in the Centre for Regenerative Medicine (CRM) and the Simon’s Initiative for the Developing Brain (SIDB) in Edinburgh. The Illingworth lab investigates how chromatin-based mechanisms control gene expression programmes to balance the need for cellular expansion and specification, and how derailing these processes leads to pathology. 

Amanda Johnson

ARRE Foundation

Executive Director

  • Amanda joined the ARRE Foundation in 2021 as the organization’s first staff member. She leads the activities that support the ARRE Foundation’s mission of advancing research and improving quality of life for families living with ASXL-related disorders, including fundraising, programs, events, and partnerships. She is proud to have contributed to many advancements for the ASXL-related disorders community in her time with the ARRE Foundation, but her proudest achievement to date is supporting the development of a first GeneReviews article for Shashi-Pena Syndrome that published in November 2024 as it represents a true partnership between the family community, the medical community, and the ARRE Foundation.

    Amanda brings over 15 years of experience in donor-centered fundraising, event management and nonprofit administration experience to the ARRE Foundation. In previous roles, she served at the Pulmonary Hypertension Association, DC Central Kitchen, and the ARVO Foundation for Eye Research. She holds a BS in Organizational Communication from Ithaca College and an MA in Nonprofit Management from the Notre Dame of Maryland University. Amanda is originally from Western New York (Go Bills!) and lives in Maine with her family.

Kristina T. Johnson, PhD

Northeastern University

Language and communication for individuals with complex neurodevelopmental differences

  • Dr. Kristina (Kristy) Johnson is an Assistant Professor at Northeastern University, jointly appointed in Electrical & Computer Engineering and Communication Sciences & Disorders. Kristy received her Ph.D. in Affective Computing from MIT and was a postdoctoral fellow at Boston Children’s Hospital and Harvard Medical School in the Rosamund Stone Zander Translational Neuroscience Center. She also holds an M.S. and Honors B.S. in Physics. Her research focuses on individuals with complex neurodevelopmental differences, especially those with autism, intellectual disabilities, rare genetic disorders, and minimal spoken speech. She works at the intersection of science and engineering, specializing in personalized naturalistic studies, developmental science, digital healthcare, and augmentative technology. She is also the parent of a child with a rare genetic neurodevelopmental disorder and autism (MEF2C Haploinsufficiency Syndrome).

Thomas Koehnke, MD, PhD

Stanford University

Modeling ASXL1 mutations in primary human stem cells

  • After completing medical school at the University of Goettingen, Germany and research at Massachusetts General Hospital in Boston and the Charité University hospital in Berlin, Dr Koehnke completed his clinical training in Hematology/Oncology at the University of Munich, Germany. Following this, he trained as postdoctoral fellow in the laboratory of Ravi Majeti at Stanford studying ASXL1 mutant pre-leukemic evolution and progression into leukemia. He currently works at the Institute for Stem Cell Biology and Regenerative Medicine at Stanford developing novel approaches to perform prospective genetic experiments directly in patient specimens.

  • Recent technological advancements have enabled us to conduct prospective, functional, genetic studies in primary human stem cell systems. These approaches allow us to move beyond purely descriptive studies in human primary cells, complementing functional interrogation of hypotheses in mouse and cell line studies. These techniques have provided valuable insights into the role of mutations in ASXL1 on stem cell function and offer opportunities to explore therapeutic approaches. In this talk, we will discuss strategies to interrogate the role of ASXL1 mutations on normal and malignant hematopoietic stem cells and which challenges remain.

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

  • Dr Vijay Kumar M. J. is a postdoctoral researcher in the department of Neurology at McGovern Medical School, UTHealth, Houston, working in the laboratory of Dr. Andrey Tsvetkov. His research explores the molecular mechanisms of brain aging, with a particular focus on the role of G-quadruplex (G4) structures and G4 helicases in chromatin remodeling, epigenetics and neurological disorders.

    His work aims to uncover fundamental mechanisms by which G4 structures shape transcriptional programs and epigenetic states during aging. As a part of his research, he discovered that G4-resolving helicase DDX5 regulates ASXL3 expression, opening new directions for investigating the intersection of G4 biology with chromatin-associated genes implicated in neurodevelopmental processes.

    Dr Vijay's work bridges the field of G4 biology and chromatin dynamics with an emerging interest in how G4s may contribute to ASXL-related disorders

  • Guanine (G)-rich nucleic acid sequences in the human genome and transcriptome can fold into non-canonical secondary structures called G-quadruplexes (G4s or G4-DNA and G4-RNA). G4-DNA regulates replication, transcription, recombination, and telomere maintenance, while G4-RNA influences RNA processes including translation. However, overly stable G4-DNA induces genomic instability, and abnormally stabilized G4-RNA disrupts RNA-dependent functions. Numerous G4-binding transcription factors, G4-binding proteins (G4BPs), and G4 helicases interact with G4s and shape their cellular landscapes. The DEAD-box protein 5 (DDX5) is an ATP-dependent G4 helicase that resolves G4-DNA and G4-RNA and regulates transcription by unfolding promoter G4s. We found that G4 homeostasis is altered in aged human astrocytes, marked by increased G4s and reduced DDX5 expression. To define the transcriptional role of DDX5, we performed RNA-seq in primary human astrocytes from epilepsy surgeries. Of 14,821 genes measured, 460 were differentially regulated by DDX5: 214 upregulated and 246 downregulated, forming networks central to the cell cycle, p53 signaling, senescence, and longevity. Among the top hits was ASXL3, encoding a chromatin modifier and epigenetic regulator. Mutations in ASXL3 cause Bainbridge-Ropers Syndrome, a neurodevelopmental disorder with intellectual disability, seizures, and microcephaly. We observed an age-dependent decline in ASXL3 expression in human astrocytes, with significantly reduced levels in aged cells. Notably, ectopic DDX5 expression upregulated ASXL3 protein. We also identified putative G4-DNA motifs in ASXL3’s promoter and gene, suggesting DDX5 may promote ASXL3 transcription by unfolding G4s. Our study uncovers a novel mechanism of DDX5-dependent ASXL3 regulation, linking G4s to Bainbridge-Ropers Syndrome etiology and suggesting potential therapeutic strategies for this disorder.

Natasha Ludwig, PhD

Kennedy Krieger Institute and Johns Hopkins School of Medicine

ASXL Research Symposium Program Committee

Advisor, ARRE Foundation Medical and Scientific Advisory Board

Review of clinical research projects in ASXL-related disorders

  • 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.

  • This presentation will highlight key clinical research initiatives advancing the understanding of ASXL-related disorders. The ASXL Natural History Study, led by Dr. Bianca Russell, is building a foundational dataset to inform diagnosis, care, and future therapeutic development. Feeding into this effort are the ALPS Project, directed by Dr. Natasha Ludwig, which focuses on behavioral phenotyping to better characterize neurodevelopmental profiles, and the CHAMPION Study, led by Dr. Rujuta Wilson, which investigates autism symptoms and motor functioning in children with chromatinopathies. Together, these studies contribute critical phenotypic and functional data to the Natural History Study. Complementing these initiatives is a PCORI-funded focus group project that facilitated the development of an engaged network of diverse stakeholders and the implementation of community-based focus groups and survey. This effort has been instrumental in identifying and prioritizing patient-centered research questions across gastrointestinal, neurodevelopmental, and behavioral domains. Collectively, these initiatives are aligned toward a shared goal of clinical trial readiness.

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- RD

  • Heather McLean, PT, MPT, CBIS, C/NDT has over 34 years of experience in clinical practice as well as education and mentoring in both academic and clinical settings. Her pediatric clinical experience includes acute care (NICU, PICU, cardiac, orthopedic, neurosurgical, general medicine), multidisciplinary outpatient clinics, outpatient, and inpatient rehabilitation.

  • Physical Therapy (PT) is frequently a recommendation starting with early intervention, but often caregivers and professionals don’t appreciate the realm of pediatric PT. This presentation will take a look at PT-related opportunities for individuals with ASXL-RD. The Physical Abilities and Mobility Scale (PAMS), a gross motor function outcome measure, will be introduced as incorporated during the 2024 ASXL Family Conference.

Jürg Müller, PhD

Max-Planck Institute of Biochemistry, Munich

Functional analysis of the Asx C-terminal region and its interacting proteins in Drosophila

  • Jürg Müller studied biology at the University of Zürich where he received his PhD in 1991. For his post-doctoral studies, he joined the laboratory of Peter Lawrence at the MRC Laboratory of Molecular Biology in Cambridge. Jürg Müller has led his own research group since 1996, first at the Max Planck Institute for Developmental Biology in Tübingen and then at the European Molecular Biology Laboratory in Heidelberg. Since 2010 he is at the Max Planck Institute of Biochemistry in Munich. His lab studies the role of chromatin in transcriptional regulation in Drosophila, using genetics, biochemistry and structural biology.

  • The Polycomb Repressive Deubiquitinase (PR-DUB) complex functions as a major deubiquitinase that removes monoubiquitin from histone H2A at lysine 119 within nucleosomes (H2Aub1). Binding and deubiquitination of H2Aub1-modified nucleosomes depends on the interaction between the deubiquitinase adaptor domain (DEUBAD) of the PR-DUB subunit Asx and the catalytic subunit Bap1. The Drosophila Asx protein, encoded by a single-copy gene, and its mammalian paralogs ASXL1, ASXL2, and ASXL3 all share a conserved architecture: the N-terminal DEUBAD domain, followed by an extended low-complexity region (LCR) of more than 1000 amino acids, and a C-terminal PHD finger domain. While these C-terminal regions are not required for PR-DUB assembly or for H2Aub1 deubiquitinase activity in vitro, work in Drosophila suggests that they are essential for targeting PR-DUB to Polycomb-regulated genes in vivo. In flies, deletion of the entire Asx LCR together with the adjacent PHD finger results results in embryonic lethality through excessive H2Aub1 accumulation specifically at Polycomb target genes, disrupting their repression. We have investigated the role of the Asx C-term in Drosophila by generating diverse deletion mutants and by identifying proteins that interact with discreet sequence elements in this region of Asx. Progress in understanding the role of these interactions in shaping the H2Aub1 chromatin landscape and the regulation of PR-DUB target genes will be presented.

Julia T. O'Connor, PhD

Kennedy Krieger Institute and Johns Hopkins University

Qualitative analysis to understanding behavior challenges in ASXL-related disorders

  • Dr. Julia O'Connor is a research scientist and licensed psychologist at Kennedy Krieger Institute. She is the Associate Director of the Neurobehavioral Unit Outpatient Programs and an assistant professor in the Department of Psychiatry and Behavioral Sciences at the Johns Hopkins University School of Medicine. She completed her master's and doctoral training at the State University of New York in Binghamton in clinical psychology. Dr. O'Connor's research has focused on the assessment and treatment of severe behavior problems including self-injury, aggression, pica, property destruction and other problem behaviors exhibited by individuals with neurodevelopmental disabilities.

  • Provide an overview of the qualitative analysis process to analyze the outcome data from the parent focus groups highlighting the priority areas for families in relation to behaviors in ASXL. Development of focus group themes to formulate research questions. Top research questions will be highlighted.

Beate Peter, PhD, CCC-SLP

College of Health Solutions, Arizona State University

Knowledge is Power: How to foster speech and language skills of children with Bainbridge-Ropers syndrome using personalized and proactive strategies

  • Beate Peter, Ph.D., CCC-SLP, is an Associate Professor in the College of Health Solutions at Arizona State University. Peter heads the Speech/Language Genetics lab, which is home to three lines of research: genetic etiologies of communication disorders, gene-brain-behavior links in communication dis-/abilities, and early and proactive interventions for children at genetic risk for communication disorders. At Arizona State University, Peter established a Ph.D. concentration called Translational Genetics of Communication Abilities (TGCA) for future scientists who wish to train in a unique environment combining genome science, neuroscience, and communication behaviors. The Speech/Language Genetics Lab created a novel prophylactic speech/language intervention called Babble Boot Camp for infants who have a known genetic risk for speech and language disorders. As the first intervention of this type, Babble Boot Camp has been successfully trialed with infants with a newborn diagnosis of classic galactosemia. Subsequent trials are underway with infants who have other predictable risks for speech and language delays. The overarching theme of the work in the Speech/Language Genetics lab is translating some key principles of precision medicine, especially prophylaxis and personalization, into the world of speech-language pathology.

  • Difficulty learning to talk is one of the most common challenges faced by children with Bainbridge-Ropers syndrome (BRPS), and one of the most worrisome to their parents. According to the literature, children with BRPS either do not develop spoken language at all, or their verbal communication is delayed or disordered; however, detailed descriptions of speech and language have not been provided. Here, for the first time, we present the speech and language trajectories of two brothers with BRPS, for whom developmental coordination disorder underlies motor processes across domains. We show how understanding one sibling’s childhood apraxia of speech informed his speech and language therapy, resulting in remarkable progress, and how understanding the motoric limitations for the other resulted in a comprehensive functional communication system. We also showcase two unrelated infants with BRPS whose parents participated in ten months of weekly Babble Boot Camp sessions. Babble Boot Camp is a prophylactic speech and language intervention that we developed for infants at predictable risk. These four cases all exemplify successfully translating core principles of precision medicine (personalization; prevention) into the world of speech-language pathology.

Michael Rauchman, MDCM

Washington University School of Medicine

Diverse Mechanism of Developmental Defects in Townes-Brocks, an Autosomal Dominant Syndrome

  • Michael Rauchman, MDCM is Chromalloy Professor of Medicine and Professor of Developmental Biology and Pediatrics at the Washington University School of Medicine. He is a physician-scientist with clinical specialty training in nephrology (kidney disease). Dr. Rauchman directs a pediatric-to-adult transition clinic for patients with kidney disease, which provides care for many individuals with neurodevelopmental disorders including autism. His laboratory investigates mechanisms of gene regulation by transcription factors and their associated chromatin-remodeling complexes during kidney development and disease. Ongoing studies focus on cell fate specification of nephron progenitor cells during formation of the embryonic kidney, and growth and maturation of the kidney from birth through adolescence. We apply this knowledge to understand the basis of birth defects of the kidney and childhood kidney disease. A second area of emphasis is investigation of epigenetic mechanisms in response to kidney injury that promote tissue repair versus progressive fibrosis leading to kidney failure. To advance knowledge in these areas of study, his lab uses multiple genomic technologies (single cell RNA/ATAC-seq, spatial transcriptomics, chromatin profiling with CUT&RUN & ChIP-seq, Hi-ChIP) to interrogate genetically engineered mice, rodent models of injury and human kidney tissue samples.

  • Truncating mutations in SALL1 cause Townes-Brocks, an autosomal dominant syndrome characterized by congenital anomalies affecting multiple organs. SALL1 mutation associated phenotypes are caused by loss-of-function, dominant negative and dominant interference effects on other SALL family proteins. These studies may inform genetic mechanisms of other dominant disorders due to truncating mutations, such as syndromes due to ASXL gene mutations. Ongoing studies of human congenital anomalies of the kidney and urinary tract (CAKUT) identified ASXL3 as a novel CAKUT gene, thereby expanding the phenotypic spectrum of Bainbridge-Ropers syndrome.

Michael Sigfrid S. Reyes

University of the Philippines Manila and UCLA

ASXL1 mutations drive metabolic alterations through mitochondrial dysfunction

  • Michael Sigfrid. S. Reyes is a MD/PhD student at the University of the Philippines and a visiting graduate researcher in the Arboleda Lab at UCLA.

Bianca Russell, MD

UCLA

ASXL Research Symposium Program Committee

Advisor, ARRE Foundation Medical and Scientific Advisory Board

  • Dr. Bianca Russell is a clinical geneticist at University of California, Los Angeles (UCLA) who sees patients with metabolic and genetic conditions. She has been following patients with ASXL-related disorder since 2013 and has made this the research focus of her career. She started the ASXL Registry as a resident at Cincinnati Children's and expanded it to include a biobank when she transitioned to UCLA.

    Dr. Bianca Russell received her bachelors degree from Connecticut College in New London, Connecticut in 2008 and her medical degree from the University of California, Irvine in 2013. She completed her residency in Pediatrics and Human Genetics at the Cincinnati Children's Hospital in Cincinnati, Ohio.

Sarah Scott

ARRE Foundation

Family Education and Engagement Coordinator

  • Sarah served as a long-time volunteer with the ARRE Foundation prior to joining the staff team in 2024. Her son Sammy was one of the first children diagnosed with Shashi-Pena Syndrome (ASXL2-related disorder) in the first paper describing the disorder in 2016. Sarah has been actively involved in supporting other families ever since. She brings a wealth of experience to the role with her background in social work and her deep personal connection to the ASXL community. Sarah has previously served on the Newly Diagnosed Outreach Committee and as a speaker at past ARRE Foundation family conferences and educational events.

    Sarah lives in Chicago with her husband Shawn and their three children.

Latha Valluripalli Soorya, PhD

Rush University Medical Center

Functional Behavioral Treatment (FBT) adaptations for Neurogenic Sydromes: one treatment, two targets

  • Latha Valluripalli Soorya, PhD is a clinical psychologist, board certified behavior analyst, Associate Professor, and Director of the AARTS Center a lifespan autism program in the Department of Psychiatry and Behavioral Sciences at Rush University Medical Center. Dr. Soorya specializes in complex neurodevelopmental conditions, focusing her clinical research and clinical care on social, emotional, and behavioral needs in neurodevelopmental conditions. Dr. Soorya is also active in teaching and service, holding positions on training faculty in several institutions and local advocacy and philanthropic boards.

  • This talk will provide an overview of WINGS: a Web Intervention for Parents of Youth with Genetic Syndromes. This NIH-funded trial is evaluating an adaptation of Functional Behavioral Treatment (FBT), an established challenging behavior intervention, for delivery by mental health professionals in speciality neurogenic clinics. FBT provides a framework for building coping skills while reducing challenging behaviors, addressing clinical and translational clinical trial needs. The presentation will provide an overview of FBT, rationale for adaptations, considerations for study populations, and lessons from early stages of the trial. Q & A will facilitate a discussion of how this work may support the ASXL community and considerations for adaptations in Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome across development.

Wen-Hann Tan, BMBS

Boston Children’s Hospital

ASXL Research Symposium Program Committee

Advisor, ARRE Foundation Medical and Scientific Advisory Board

  • 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.

Audrey Thurm, PhD

Boston Children’s Hospital

  • Dr. Audrey Thurm, Ph.D. received training at DePaul University and Boston Children's Hospital/Harvard Medical School, and conducted a post-doctoral fellowship at Johns Hopkins School of Medicine. She served at at NIMH from 2022-2025, serving in the extramural program until 2006, as chief of both the Autism and Social Behavior Program, and the Compulsive Repetitive Behaviors Program. In 2006 she moved to the intramural program to help launch the autism research program. She has expertise in longitudinal studies and an interest in markers of the early diagnosis of autism as well as genetic conditions associated with neurodevelopmental disorders. She currently works at Boston Children’s Hospital.

Lu Wang, PhD

Northwestern University

Decoding the BAP1 Complex: From Chromatin Regulation to Disease Pathogenesis

  • Lu Wang is an Assistant Professor of Biochemistry and Molecular Genetics at Northwestern University. He obtained his Ph.D. from Nanjing University in China in 2011. He then completed his first postdoctoral training in cancer biology with Dr. Wei Xu at UW Madison, followed by a second postdoctoral training in cancer epigenetics with Dr. Ali Shilatifard. In 2019, he started his independent research career at Northwestern University. His lab focuses on understanding the genetic and epigenetic abnormalities involved in human diseases, identifying potential therapeutic targets, and developing novel therapies for treatment.

  • The BRCA1-associated protein 1 (BAP1) functions as a general transcriptional activator by catalyzing the removal of histone H2AK119 mono-ubiquitination deposited by PRC1. Dysregulation and mutations of the BAP1 gene and its associated factors have been identified as drivers of developmental and metabolic diseases, as well as various human cancers. Here, we will discuss the regulation of the BAP1 complex and explore how its dysfunction contributes to disease development.

Rujuta Wilson, MD

UCLA

Moderator, Workshop: Developing a clinical severity assessment for ASXL-related disorders

  • Dr. Rujuta B. Wilson is a behavioral child neurologist specializing in autism spectrum disorders and related neurodevelopmental disorders (NDDs). Dr. Wilson's clinical care and research also includes individuals with neurogenetic conditions. She is an Assistant Professor in Psychiatry and Pediatric Neurology at the UCLA David Geffen School of Medicine and the UCLA Center for Autism Research and Treatment (CART). Dr. Wilson leads the motor phenotyping core at UCLA CART and is part of the translational clinical core of the UCLA Intellectual and Developmental Disabilities Research Center (IDDRC). Dr. Wilson is also director of research for the UCLA Tarjan (UCEDD) Center. Dr. Wilson's NIH funded research is focused on developing quantitative methods of motor phenotyping in order to improve characterization of motor development in NDDs, better understand how motor impairments can impact cognition and language, and develop more targeted interventions for children with neurodevelopmental disorders. Dr. Wilson’s work also extends to measuring the physical and behavioral benefits of organized physical activity for children with NDDs. Dr. Wilson is an invited member of the United States Tennis Association Adaptive Committee. She is a member and past chair of the Child Neurology Society Leadership, Diversity, Equity, and Inclusion committee. Dr. Wilson has been selected several times as a Los Angeles Times Super Doctor, Southern California Rising Stars and as a Los Angeles Magazine L.A. Top Doctor. 

Mary Wojnaroski, PhD

Nationwide Children’s Hospital

Updates from the Inchstone Project: What are we learning about ASXL-related disorders?

  • Dr. Mary Wojnaroski received her bachelor’s degree in Psychology at Butler University and her master’s and doctoral degree in Clinical Psychology with a specialization in pediatrics at the University of Alabama. Dr. Wojnaroski completed an APA-accredited internship in at the University of Alabama in and a post-doctoral fellowship in Intellectual/Neurodevelopmental Disabilities at Nationwide Children’s Hospital. Mary Wojnaroski, PhD is a licensed clinical psychologist at Nationwide Children's Hospital and an Associate Professor of Pediatrics at The Ohio State University. She provides assessment and treatment of children and young adults with neurodevelopmental disabilities, including autism, ADHD, and cognitive delay. She has further specialization in assessment and treatment of children with neurodevelopmental conditions and epilepsy. Dr. Wojnaroski’s research and clinical interests have focused on early assessment and diagnosis of autism and other neurodevelopmental disabilities in children with epilepsy, developmental and behavioral assessment for children with severe to profound developmental disabilities, providing psychological and behavioral consultation for children with developmental disabilities during hospital admission, and behavioral intervention to increase compliance and comfort of children with neurodevelopmental disabilities in critical medical care.